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2. Genomic analysis, immunomodulation and deep phenotyping of patients with nodding syndrome.

Author

Soldatos, Ariane, Nutman, Thomas B, Johnson, Tory, Dowell, Scott F, Sejvar, James J, Wilson, Michael R, DeRisi, Joseph L, Inati, Sara K, Groden, Catherine, Evans, Colleen, O'Connell, Elise M, Toliva, Bernard Opar, Aceng, Jane R, Aryek-Kwe, Josephine, Toro, Camilo, Stratakis, Constantine A, Buckler, A Gretchen, Cantilena, Cathy, Palmore, Tara N, Thurm, Audrey, Baker, Eva H, Chang, Richard, Fauni, Harper, Adams, David, Macnamara, Ellen F, Lau, C Christopher, Malicdan, May Christine V, Pusey-Swerdzewski, Barbara, Downing, Robert, Bunga, Sudhir, Thomas, Jerry D, Gahl, William A, and Nath, Avindra

Subjects
Clinical Research, Digestive Diseases, Genetics, Brain Disorders, Rare Diseases, Nutrition, Neurosciences, Human Genome, 2.1 Biological and endogenous factors, Aetiology, Neurological, Good Health and Well Being, United States, Humans, Nodding Syndrome, Cohort Studies, Onchocerciasis, Immunomodulation, Genomics, epilepsy, global health, genetic, autoimmune, infectious, Medical and Health Sciences, Psychology and Cognitive Sciences, Neurology & Neurosurgery
Abstract

The aetiology of nodding syndrome remains unclear, and comprehensive genotyping and phenotyping data from patients remain sparse. Our objectives were to characterize the phenotype of patients with nodding syndrome, investigate potential contributors to disease aetiology, and evaluate response to immunotherapy. This cohort study investigated members of a single-family unit from Lamwo District, Uganda. The participants for this study were selected by the Ugandan Ministry of Health as representative for nodding syndrome and with a conducive family structure for genomic analyses. Of the eight family members who participated in the study at the National Institutes of Health (NIH) Clinical Center, three had nodding syndrome. The three affected patients were extensively evaluated with metagenomic sequencing for infectious pathogens, exome sequencing, spinal fluid immune analyses, neurometabolic and toxicology testing, continuous electroencephalography and neuroimaging. Five unaffected family members underwent a subset of testing for comparison. A distinctive interictal pattern of sleep-activated bursts of generalized and multifocal epileptiform discharges and slowing was observed in two patients. Brain imaging showed two patients had mild generalized cerebral atrophy, and both patients and unaffected family members had excessive metal deposition in the basal ganglia. Trace metal biochemical evaluation was normal. CSF was non-inflammatory and one patient had CSF-restricted oligoclonal bands. Onchocerca volvulus-specific antibodies were present in all patients and skin snips were negative for active onchocerciasis. Metagenomic sequencing of serum and CSF revealed hepatitis B virus in the serum of one patient. Vitamin B6 metabolites were borderline low in all family members and CSF pyridoxine metabolites were normal. Mitochondrial DNA testing was normal. Exome sequencing did not identify potentially causal candidate gene variants. Nodding syndrome is characterized by a distinctive pattern of sleep-activated epileptiform activity. The associated growth stunting may be due to hypothalamic dysfunction. Extensive testing years after disease onset did not clarify a causal aetiology. A trial of immunomodulation (plasmapheresis in two patients and intravenous immunoglobulin in one patient) was given without short-term effect, but longer-term follow-up was not possible to fully assess any benefit of this intervention.

Published
2023

3. 2017-2019 Implementation Evaluation of the National Math and Science Initiative's College Readiness Program

Author

National Center for Research on Evaluation, Standards, and Student Testing (CRESST), Phelan, Julia, Egger, Jeffrey, Kim, Junok, Choi, Kilchan, Keum, Eunhee, Chung, Gregory K. W. K., and Baker, Eva L.

Abstract

The National Math + Science Initiative (NMSI) is a nonprofit organization committed to improving educational outcomes that traces its roots back to the early 1990s. NMSI's College Readiness Program (CRP) is a long-standing program with the goal of promoting STEM education in high schools to improve students' preparation for college. The three-year program provides teacher, student, and school supports to promote high school students' success in English, mathematics, and science Advanced Placement (AP) courses, with a focus on students who are traditionally underrepresented in the targeted AP courses. Through a scale-up grant awarded to NMSI by the Investing in Innovation (i3) program, the CRP was implemented in 27 schools in the 2016-2017 school year (Treatment Schools) and in 21 schools in the 2017-2018 school year (Delayed Treatment Schools), collectively identified as Program Schools. CRESST conducted an independent evaluation of the impact of the CRP on students' AP outcomes using a randomized cluster trial with 48 CRP schools and 48 Comparison Schools in 10 states. The evaluation of the CRP consisted of three parts: (1) measuring the program's impact on selected student AP exam outcomes; (2) determining the impact of the program on school perspectives and culture; and (3) assessing of the fidelity of implementation of the CRP at the school level. AP exam data from 48 Treatment Schools, with a total of 8,778 exams in 2018 and 9,378 in 2019, and 48 matched control schools, with 7,505 exams in 2018 and 2019 in Year 3, were analyzed for this study. Program impact was evaluated using a 2-level hierarchical generalized linear model (HGLM) with students nested within schools. The analyses revealed that in 2018 the probability of a student taking an AP exam in the Program Schools was, on average, 7% higher than the paired Comparison Schools, and the difference was statistically significant. And in 2019 the effect was even greater with the probability of taking an AP exam being significantly higher in Program Schools (18%) than in Comparison Schools (3%). When looking at the probability of an exam yielding a qualifying score, in 2018, the HGLM analyses found no significant difference between the two groups. In 2019, however, exams taken at the Program Schools had a significantly higher overall probability (2%) of receiving a qualifying score than the Comparison Schools (0%). These analyses compared results to the total school population. In the next analyses, we looked only at those students who took AP exams. In 2018, overall, the fitted probability of achieving a qualifying score among the exams taken was 8% in the Program Schools, compared to 22% in the Comparison Schools. In 2019, however, the difference between the Program Schools (7%) and the Comparison Schools (9%) was not statistically significant. Fidelity of implementation was evaluated using a fidelity matrix approach (required as part of the evaluation of the i3 program), which showed that not all elements of the program were implemented with high fidelity. In 2018, results indicated that 43 out of 48 schools (90%) achieved 80% or better implementation fidelity, for an average fidelity score of 89%. Four schools achieved a perfect 100% fidelity score. In 2019, 88% of schools achieved 80% or better implementation fidelity. Ten schools achieved a perfect 100% fidelity score. In 2018 in more than 75% of schools, not all teachers fulfilled their requirements for attending the required teacher training sessions, and so this component was not implemented with fidelity. In 2019, this picture improved a little with 15 schools (31%) meeting the 80% threshold. Teacher stipends, administrator bonuses, and student qualifying score awards were paid as expected. Teacher survey data indicated that teachers found the training and professional development activities provided by the CRP to be the most beneficial program supports. Mentoring was chosen, across all years, as the least effective program component. When prompted for the second most effective CRP component, the same number of teachers selected the funding of classroom and lab supplies as did teacher training. [For "2016-2017 Implementation Evaluation of the National Math and Science Initiative's College Readiness Program," see ED615910.]

Published
2021

4. GM1 gangliosidosis type II: Results of a 10-year prospective study

Author

D’Souza, Precilla, Farmer, Cristan, Johnston, Jean M., Han, Sangwoo T., Adams, David, Hartman, Adam L., Zein, Wadih, Huryn, Laryssa A., Solomon, Beth, King, Kelly, Jordan, Christopher P., Myles, Jennifer, Nicoli, Elena-Raluca, Rothermel, Caroline E., Mojica Algarin, Yoliann, Huang, Reyna, Quimby, Rachel, Zainab, Mosufa, Bowden, Sarah, Crowell, Anna, Buckley, Ashura, Brewer, Carmen, Regier, Debra S., Brooks, Brian P., Acosta, Maria T., Baker, Eva H., Vézina, Gilbert, Thurm, Audrey, and Tifft, Cynthia J.

Published
2024
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6. Clinical application of a scale to assess genomic healthcare empowerment (GEmS): Process and illustrative case examples

Author

McConkie‐Rosell, Allyn, Schoch, Kelly, Sullivan, Jennifer, Spillmann, Rebecca C, Cope, Heidi, Tan, Queenie K‐G, Palmer, Christina GS, Hooper, Stephen R, Shashi, Vandana, Acosta, Maria T, Adam, Margaret, Adams, David R, Agrawal, Pankaj B, Alejandro, Mercedes E, Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak‐Toydemir, Pinar, Beck, Anita, Beggs, Alan H, Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg‐Rood, Beverly, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C, Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Byers, Peter, Byrd, William E, Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao‐Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Coggins, Matthew, Sessions Cole, F, Colley, Heather A, Cooper, Cynthia M, Craigen, William J, Crouse, Andrew B, Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davids, Mariska, Dayal, Jyoti G, Deardorff, Matthew, Dell'Angelica, Esteban C, Dhar, Shweta U, Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douine, Emilie D, Draper, David D, Duncan, Laura, Earl, Dawn, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Esteves, Cecilia, Estwick, Tyra, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Findley, Laurie C, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Fresard, Laure, Gahl, William A, Glass, Ian, and Godfrey, Rena A

Subjects
Pediatric, Biotechnology, Human Genome, Clinical Research, Genetics, Good Health and Well Being, Child, Delivery of Health Care, Family, Genomics, Humans, Parents, Exome Sequencing, exome and genomic sequencing, undiagnosed disorders, healthcare empowerment, genetic counseling, parental perspectives, rare disorders, Undiagnosed Disease Network, Clinical Sciences, Genetics & Heredity
Abstract

The Genome Empowerment Scale (GEmS), developed as a research tool, assesses perspectives of parents of children with undiagnosed disorders about to undergo exome or genome sequencing related to the process of empowerment. We defined genomic healthcare empowerment as follows: perceived ability to understand and seek new information related to the genomic sequencing, manage emotions related to the diagnostic process and outcomes, and utilize genomic sequencing information to the betterment of the individual/child and family. The GEmS consists of four scales, two are primarily emotion-focused (Meaning of a Diagnosis, and Emotional Management of the Process) and two are action-oriented (Seeking Information and Support, and Implications and Planning). The purpose of this research was to provide a strategy for interpreting results from the GEmS and present illustrative cases. These illustrations should serve to facilitate use of the GEmS in the clinical and research arena, particularly with respect to guiding genetic counseling processes for parents of children with undiagnosed conditions.

Published
2022

7. Biallelic CRELD1 variants cause a multisystem syndrome, including neurodevelopmental phenotypes, cardiac dysrhythmias, and frequent infections

Author

Borras, Silvia, Clark, Caroline, Dean, John, Miedzybrodzka, Zosia, Ross, Alison, Tennant, Stephen, Dabir, Tabib, Donnelly, Deirdre, Humphreys, Mervyn, Magee, Alex, McConnell, Vivienne, McKee, Shane, McNerlan, Susan, Morrison, Patrick J., Rea, Gillian, Stewart, Fiona, Cole, Trevor, Cooper, Nicola, Cooper-Charles, Lisa, Cox, Helen, Islam, Lily, Jarvis, Joanna, Keelagher, Rebecca, Lim, Derek, McMullan, Dominic, Morton, Jenny, Naik, Swati, O’Driscoll, Mary, Ong, Kai-Ren, Osio, Deborah, Ragge, Nicola, Turton, Sarah, Vogt, Julie, Williams, Denise, Bodek, Simon, Donaldson, Alan, Hills, Alison, Low, Karen, Newbury-Ecob, Ruth, Norman, Andrew M., Roberts, Eileen, Scurr, Ingrid, Smithson, Sarah, Tooley, Madeleine, Abbs, Steve, Armstrong, Ruth, Dunn, Carolyn, Holden, Simon, Park, Soo-Mi, Paterson, Joan, Raymond, Lucy, Reid, Evan, Sandford, Richard, Simonic, Ingrid, Tischkowitz, Marc, Woods, Geoff, Bradley, Lisa, Comerford, Joanne, Green, Andrew, Lynch, Sally, McQuaid, Shirley, Mullaney, Brendan, Berg, Jonathan, Goudie, David, Mavrak, Eleni, McLean, Joanne, McWilliam, Catherine, Reavey, Eleanor, Azam, Tara, Cleary, Elaine, Jackson, Andrew, Lam, Wayne, Lampe, Anne, Moore, David, Porteous, Mary, Baple, Emma, Baptista, Júlia, Brewer, Carole, Castle, Bruce, Kivuva, Emma, Owens, Martina, Rankin, Julia, Shaw-Smith, Charles, Turner, Claire, Turnpenny, Peter, Tysoe, Carolyn, Bradley, Therese, Davidson, Rosemarie, Gardiner, Carol, Joss, Shelagh, Kinning, Esther, Longman, Cheryl, McGowan, Ruth, Murday, Victoria, Pilz, Daniela, Tobias, Edward, Whiteford, Margo, Williams, Nicola, Barnicoat, Angela, Clement, Emma, Faravelli, Francesca, Hurst, Jane, Jenkins, Lucy, Jones, Wendy, Ajith Kumar, V.K., Lees, Melissa, Loughlin, Sam, Male, Alison, Morrogh, Deborah, Rosser, Elisabeth, Scott, Richard, Wilson, Louise, Beleza, Ana, Deshpande, Charu, Flinter, Frances, Holder, Muriel, Irving, Melita, Izatt, Louise, Josifova, Dragana, Mohammed, Shehla, Molenda, Aneta, Robert, Leema, Roworth, Wendy, Ruddy, Deborah, Ryten, Mina, Yau, Shu, Bennett, Christopher, Blyth, Moira, Campbell, Jennifer, Coates, Andrea, Dobbie, Angus, Hewitt, Sarah, Hobson, Emma, Jackson, Eilidh, Jewell, Rosalyn, Kraus, Alison, Prescott, Katrina, Sheridan, Eamonn, Thomson, Jenny, Bradshaw, Kirsty, Dixit, Abhijit, Eason, Jacqueline, Haines, Rebecca, Harrison, Rachel, Mutch, Stacey, Sarkar, Ajoy, Searle, Claire, Shannon, Nora, Sharif, Abid, Suri, Mohnish, Vasudevan, Pradeep, Canham, Natalie, Ellis, Ian, Greenhalgh, Lynn, Howard, Emma, Stinton, Victoria, Swale, Andrew, Weber, Astrid, Banka, Siddharth, Breen, Catherine, Briggs, Tracy, Burkitt-Wright, Emma, Chandler, Kate, Clayton-Smith, Jill, Donnai, Dian, Douzgou, Sofia, Gaunt, Lorraine, Jones, Elizabeth, Kerr, Bronwyn, Langley, Claire, Metcalfe, Kay, Smith, Audrey, Wright, Ronnie, Bourn, David, Burn, John, Fisher, Richard, Hellens, Steve, Henderson, Alex, Montgomery, Tara, Splitt, Miranda, Straub, Volker, Wright, Michael, Zwolinski, Simon, Allen, Zoe, Bernhard, Birgitta, Brady, Angela, Brooks, Claire, Busby, Louise, Clowes, Virginia, Ghali, Neeti, Holder, Susan, Ibitoye, Rita, Wakeling, Emma, Blair, Edward, Carmichael, Jenny, Cilliers, Deirdre, Clasper, Susan, Gibbons, Richard, Kini, Usha, Lester, Tracy, Nemeth, Andrea, Poulton, Joanna, Price, Sue, Shears, Debbie, Stewart, Helen, Wilkie, Andrew, Albaba, Shadi, Baker, Duncan, Balasubramanian, Meena, Johnson, Diana, Parker, Michael, Quarrell, Oliver, Stewart, Alison, Willoughby, Josh, Crosby, Charlene, Elmslie, Frances, Homfray, Tessa, Jin, Huilin, Lahiri, Nayana, Mansour, Sahar, Marks, Karen, McEntagart, Meriel, Saggar, Anand, Tatton-Brown, Kate, Butler, Rachel, Clarke, Angus, Corrin, Sian, Fry, Andrew, Kamath, Arveen, McCann, Emma, Mugalaasi, Hood, Pottinger, Caroline, Procter, Annie, Sampson, Julian, Sansbury, Francis, Varghese, Vinod, Baralle, Diana, Callaway, Alison, Cassidy, Emma J., Daniels, Stacey, Douglas, Andrew, Foulds, Nicola, Hunt, David, Kharbanda, Mira, Lachlan, Katherine, Mercer, Catherine, Side, Lucy, Temple, I. Karen, Wellesley, Diana, Ambrose, J.C., Arumugam, P., Baple, E.L., Bleda, M., Boardman-Pretty, F., Boissiere, J.M., Boustred, C.R., Caulfield, M.J., Chan, G.C., Craig, C.E.H., Daugherty, L.C., de Burca, A., Devereau, A., Elgar, G., Foulger, R.E., Fowler, T., FurióTarí, P., Hackett, J.M., Halai, D., Hamblin, A., Henderson, S., Holman, J.E., Hubbard, T.J.P., Ibáñez, K., Jackson, R., Jones, L.J., Kasperaviciute, D., Kayikci, M., Lahnstein, L., Lawson, K., Leigh, S.E.A., Leong, I.U.S., Lopez, F.J., MaleadyCrowe, F., Mason, J., McDonagh, E.M., Moutsianas, L., Mueller, M., Murugaesu, N., Need, A.C., Odhams, C.A., Patch, C., Perez-Gil, D., Polychronopoulos, D., Pullinger, J., Rahim, T., Rendon, A., Riesgo-Ferreiro, P., Rogers, T., Ryten, M., Savage, K., Sawant, K., Scott, R.H., Siddiq, A., Sieghart, A., Smedley, D., Smith, K.R., Sosinsky, A., Spooner, W., Stevens, H.E., Stuckey, A., Sultana, R., Thomas, E.R.A., Thompson, S.R., Tucci, A., Walsh, E., Watters, S.A., Welland, M.J., Williams, E., Witkowska, K., Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Peter Chang, Ta Chen, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D'Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davids, Mariska, Dayal, Jyoti G., Deardorff, Matthew, Dell'Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Douine, Emilie D., Draper, David D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Estwick, Tyra, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Findley, Laurie C., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Godfrey, Rena A., Golden-Grant, Katie, Goldman, Alica M., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Gropman, Andrea L., Gutierrez, Irma, Hahn, Sihoun, Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Isasi, Rosario, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Johnston, Jean M., Karaviti, Lefkothea, Kelley, Emily G., Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., Lau, C. Christopher, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Mak, Bryan, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McCormack, Colleen E., McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Nakano-Okuno, Mariko, Nath, Avi, Nelson, Stan F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Papp, Jeanette C., Parker, Neil H., Phillips, John A., Posey, Jennifer E., Potocki, Lorraine, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Raja, Archana N., Rao, Deepak A., Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenwasser, Natalie, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Scott, C. Ron, Schaechter, Judy, Schedl, Timothy, Scott, Daryl A., Sharma, Prashant, Shin, Jimann, Signer, Rebecca, Sillari, Catherine H., Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Stoler, Joan M., Stong, Nicholas, Sullivan, Jennifer A., Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tamburro, Cecelia P., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Wallace, Stephanie, Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-Kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Yamamoto, Shinya, Yang, John, Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zuchner, Stephan, Jeffries, Lauren, Mis, Emily K., McWalter, Kirsty, Donkervoort, Sandra, Brodsky, Nina N., Carpier, Jean-Marie, Ji, Weizhen, Ionita, Cristian, Roy, Bhaskar, Morrow, Jon S., Darbinyan, Armine, Iyer, Krishna, Aul, Ritu B., Chao, Katherine R., Cobbold, Laura, Cohen, Stacey, Custodio, Helena M., Drummond-Borg, Margaret, Finanger, Erika, Hainline, Bryan E., Helbig, Ingo, Hewson, Stacy, Hu, Ying, Jackson, Adam, Konstantino, Monica, Leach, Meganne E., McCormick, David, Nelson, Stanley, Nguyen, Joanne, Nugent, Kimberly, Ortega, Lucy, Goodkin, Howard P., Roeder, Elizabeth, Roy, Sani, Sapp, Katie, Saade, Dimah, Sisodiya, Sanjay M., Stals, Karen, Towner, Shelley, Wilson, William, Khokha, Mustafa K., Bönnemann, Carsten G., Lucas, Carrie L., and Lakhani, Saquib A.

Published
2024
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8. Exploring Career-Readiness Features in High School Test Items through Cognitive Laboratory Interviews. CRESST Report 857

Author

National Center for Research on Evaluation, Standards, and Student Testing (CRESST), Madni, Ayesha, Kao, Jenny C., Rivera, Nichole M., Baker, Eva L., and Cai, Li

Abstract

This report is the first in a series of five reports considering career-readiness features within high school assessments. Utilizing feature analysis and cognitive lab interviews, the primary objective of this study was to verify and validate the existence of specific career-readiness features in select math and English language arts (ELA) test items. Feature analysis is a method to characterize items and tasks by components, so that item design, revision, and instruction may benefit. Seventeen students representing three high schools in Southern California participated. Results from the preliminary feature analysis on four math and two ELA items indicated that each test item contained between eight and 13 career-readiness features. Results from the cognitive labs supported the presence of these features. That is, these features were either part of the problem-solving process, and/or were necessary to solve the problem correctly.

Published
2018

9. 2016-2017 Implementation Evaluation of the National Math and Science Initiative's College Readiness Program

Author

National Center for Research on Evaluation, Standards, and Student Testing (CRESST), National Math and Science Initiative, Phelan, Julia, Egger, Jeffrey, Michiuye, Joanne K., Keum, Eunhee, Choi, Kilchan, Chung, Gregory K. W. K., and Baker, Eva L.

Abstract

The National Math + Science Initiative's (NMSI's) College Readiness Program (CRP) is an established program whose goal is to promote science, technology, engineering, and mathematics education in high schools to improve students' readiness for college. The program provides teacher, student, and school supports to promote high school students' success in mathematics, science, and English Advanced Placement (AP) courses, with a focus on students who are traditionally underrepresented in the targeted AP courses. Through a scale-up grant awarded to NMSI by the Investing in Innovation (i3) program, the CRP was implemented in 28 schools in the 2016-2017 school year. CRESST conducted an independent evaluation of the impact of the CRP on students' AP outcomes using a randomized cluster trial with 28 CRP schools and 24 control schools in 10 states. The evaluation of the CRP consisted of two parts: (1) assessment of the program's impact on selected student AP exam outcomes and (2) assessment of the fidelity of implementation of the CRP. Program impact was evaluated using a 2-level hierarchical generalized linear model (HGLM) with students nested within schools The descriptive statistics showed that a higher percetange of students in the treatment schools took at least one AP course (30.7%) compared to those in the control schools (26.4%) by approximately 4.3%, however the difference was not statistically significant. In addition, students in the treatment schools were not more likely to achieve a score of 3 or higher, when compared to the delayed treatment schools. We further examined the effectiveness of the CRP using the prior year's school-level performance on the AP exam as a covariate. As with the above findings, the results indicated the probability of a student taking at least one AP course or scoring 3 or higher on at least one AP exam is not statistically different between students in the treatment schools and those in the control treatment schools. Fidelity of implementation was evaluated using a fidelity matrix approach (required as part of the evaluation of the i3 program), which showed that not all elements of the program were implemented with high fidelity. Overall results, however, indicated that 23 schools out of 28 treatment schools (82.1%) achieved 80% or better implementation fidelity, for an average fidelity score of 89.5%. Seven schools achieved a perfect 100% fidelity score. Looking at the different indicator groups (school, teacher and student), we found that all school support measures across all schools were implemented with fidelity. In over 80% of schools, not all teachers fulfilled their requirements for attending all training sessions, and so this component was not implemented with fidelity. Stipends and teacher awards were paid as expected as were student award payments. Teacher survey data indicated that teachers found the training and professional development activities provided by the CRP to be the most beneficial program supports relating to helping increase student achievement in AP courses. Teacher incentives were chosen as the least important program component relating to increasing student performance by 16% of teachers and student incentives by 12% of teachers. Teachers did, however, view the student incentives as an important program component to encourage enrollment in AP courses. Likewise, students rated the financial incentives on average as somewhat important in encouraging them to participate in AP courses.

Published
2018

11. De Novo Pathogenic Variants in N-cadherin Cause a Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects

Author

Accogli, Andrea, Calabretta, Sara, St-Onge, Judith, Boudrahem-Addour, Nassima, Dionne-Laporte, Alexandre, Joset, Pascal, Azzarello-Burri, Silvia, Rauch, Anita, Krier, Joel, Fieg, Elizabeth, Pallais, Juan C, Network, Undiagnosed Diseases, Acosta, Maria T, Adams, David R, Agrawal, Pankaj, Alejandro, Mercedes E, Allard, Patrick, Alvey, Justin, Andrews, Ashley, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Barbouth, Deborah, Batzli, Gabriel F, Bayrak-Toydemir, Pinar, Beggs, Alan H, Bejerano, Gill, Bellen, Hugo J, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bick, David P, Birch, Camille L, Bivona, Stephanie, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Botto, Lorenzo, Briere, Lauren C, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chao, Hsiao-Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Cole, F Sessions, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D’Souza, Precilla, Dasari, Surendra, Davids, Mariska, Dayal, Jyoti G, Dell’Angelica, Esteban C, Dhar, Shweta U, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Duncan, Laura, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Fresard, Laure, Gahl, William A, Godfrey, Rena A, Goldman, Alica M, Goldstein, David B, Gourdine, Jean-Philippe F, Grajewski, Alana, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A, and Hayes, Nichole

Subjects
Biochemistry and Cell Biology, Biomedical and Clinical Sciences, Genetics, Biological Sciences, Neurosciences, 2.1 Biological and endogenous factors, Aetiology, Axons, Cadherins, Corpus Callosum, Eye, Frameshift Mutation, Genitalia, Heart Defects, Congenital, Heterozygote, Humans, Neurodevelopmental Disorders, Undiagnosed Diseases Network, ACOG, CDH2, N-cadherin, cardiac defects, cell-cell adhesion, corpus callosum, eye defects, genital defects, intellectual disability, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

Cadherins constitute a family of transmembrane proteins that mediate calcium-dependent cell-cell adhesion. The extracellular domain of cadherins consists of extracellular cadherin (EC) domains, separated by calcium binding sites. The EC interacts with other cadherin molecules in cis and in trans to mechanically hold apposing cell surfaces together. CDH2 encodes N-cadherin, whose essential roles in neural development include neuronal migration and axon pathfinding. However, CDH2 has not yet been linked to a Mendelian neurodevelopmental disorder. Here, we report de novo heterozygous pathogenic variants (seven missense, two frameshift) in CDH2 in nine individuals with a syndromic neurodevelopmental disorder characterized by global developmental delay and/or intellectual disability, variable axon pathfinding defects (corpus callosum agenesis or hypoplasia, mirror movements, Duane anomaly), and ocular, cardiac, and genital anomalies. All seven missense variants (c.1057G>A [p.Asp353Asn]; c.1789G>A [p.Asp597Asn]; c.1789G>T [p.Asp597Tyr]; c.1802A>C [p.Asn601Thr]; c.1839C>G [p.Cys613Trp]; c.1880A>G [p.Asp627Gly]; c.2027A>G [p.Tyr676Cys]) result in substitution of highly conserved residues, and six of seven cluster within EC domains 4 and 5. Four of the substitutions affect the calcium-binding site in the EC4-EC5 interdomain. We show that cells expressing these variants in the EC4-EC5 domains have a defect in cell-cell adhesion; this defect includes impaired binding in trans with N-cadherin-WT expressed on apposing cells. The two frameshift variants (c.2563_2564delCT [p.Leu855Valfs∗4]; c.2564_2567dupTGTT [p.Leu856Phefs∗5]) are predicted to lead to a truncated cytoplasmic domain. Our study demonstrates that de novo heterozygous variants in CDH2 impair the adhesive activity of N-cadherin, resulting in a multisystemic developmental disorder, that could be named ACOG syndrome (agenesis of corpus callosum, axon pathfinding, cardiac, ocular, and genital defects).

Published
2019

12. Heterozygous variants in MYBPC1 are associated with an expanded neuromuscular phenotype beyond arthrogryposis

Author

Shashi, Vandana, Geist, Janelle, Lee, Youngha, Yoo, Yongjin, Shin, Unbeom, Schoch, Kelly, Sullivan, Jennifer, Stong, Nicholas, Smith, Edward, Jasien, Joan, Kranz, Peter, Lee, Yoonsung, Shin, Yong Beom, Wright, Nathan T, Choi, Murim, Kontrogianni‐Konstantopoulos, Aikaterini, Acosta, Maria T, Adams, David R, Aday, Aaron, Alejandro, Mercedes E, Allard, Patrick, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Barbouth, Deborah, Batzli, Gabriel F, Beggs, Alan H, Bellen, Hugo J, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bick, David P, Birch, Camille L, Bivona, Stephanie, Bonnenmann, Carsten, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Briere, Lauren C, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Burrage, Lindsay C, Butte, Manish J, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chao, Hsiao‐Tuan, Clark, Gary D, Coakley, Terra R, Cobban, Laurel A, Cogan, Joy D, Cole, F Sessions, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D'Souza, Precilla, Dasari, Surendra, Davids, Mariska, Davidson, Jean M, Dayal, Jyoti G, Dell'Angelica, Esteban C, Dhar, Shweta U, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Dries, Annika M, Duncan, Laura, Eckstein, David J, Emrick, Lisa T, Eng, Christine M, Enns, Gregory M, Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L, Fisher, Paul G, Fogel, Brent L, Forghani, Irman, Friedman, Noah D, Gahl, William A, Godfrey, Rena A, Goldman, Alica M, Goldstein, David B, Gourdine, Jean‐Philippe F, Grajewski, Alana, Groden, Catherine A, Gropman, Andrea L, Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A, High, Frances, and Holm, Ingrid A

Subjects
Biological Sciences, Medical Physiology, Biomedical and Clinical Sciences, Clinical Research, Rare Diseases, Aetiology, 2.1 Biological and endogenous factors, Musculoskeletal, Adult, Arthrogryposis, Carrier Proteins, Child, Fathers, Female, Humans, Infant, Male, Models, Molecular, Mutation, Neuromuscular Diseases, Pedigree, Phenotype, Protein Conformation, Whole Genome Sequencing, arthrogryposis, hypotonia, MYBPC1, myopathy, myosin binding protein-C, tremor, Undiagnosed Diseases Network, Genetics, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract

Encoding the slow skeletal muscle isoform of myosin binding protein-C, MYBPC1 is associated with autosomal dominant and recessive forms of arthrogryposis. The authors describe a novel association for MYBPC1 in four patients from three independent families with skeletal muscle weakness, myogenic tremors, and hypotonia with gradual clinical improvement. The patients carried one of two de novo heterozygous variants in MYBPC1, with the p.Leu263Arg variant seen in three individuals and the p.Leu259Pro variant in one individual. Both variants are absent from controls, well conserved across vertebrate species, predicted to be damaging, and located in the M-motif. Protein modeling studies suggested that the p.Leu263Arg variant affects the stability of the M-motif, whereas the p.Leu259Pro variant alters its structure. In vitro biochemical and kinetic studies demonstrated that the p.Leu263Arg variant results in decreased binding of the M-motif to myosin, which likely impairs the formation of actomyosin cross-bridges during muscle contraction. Collectively, our data substantiate that damaging variants in MYBPC1 are associated with a new form of an early-onset myopathy with tremor, which is a defining and consistent characteristic in all affected individuals, with no contractures. Recognition of this expanded myopathic phenotype can enable identification of individuals with MYBPC1 variants without arthrogryposis.

Published
2019

13. Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes

Author

Burrage, Lindsay C, Reynolds, John J, Baratang, Nissan Vida, Phillips, Jennifer B, Wegner, Jeremy, McFarquhar, Ashley, Higgs, Martin R, Christiansen, Audrey E, Lanza, Denise G, Seavitt, John R, Jain, Mahim, Li, Xiaohui, Parry, David A, Raman, Vandana, Chitayat, David, Chinn, Ivan K, Bertuch, Alison A, Karaviti, Lefkothea, Schlesinger, Alan E, Earl, Dawn, Bamshad, Michael, Savarirayan, Ravi, Doddapaneni, Harsha, Muzny, Donna, Jhangiani, Shalini N, Eng, Christine M, Gibbs, Richard A, Bi, Weimin, Emrick, Lisa, Rosenfeld, Jill A, Postlethwait, John, Westerfield, Monte, Dickinson, Mary E, Beaudet, Arthur L, Ranza, Emmanuelle, Huber, Celine, Cormier-Daire, Valérie, Shen, Wei, Mao, Rong, Heaney, Jason D, Orange, Jordan S, Genomics, University of Washington Center for Mendelian, Network, Undiagnosed Diseases, Adams, David R, Aday, Aaron, Alejandro, Mercedes E, Allard, Patrick, Ashley, Euan A, Azamian, Mahshid S, Bacino, Carlos A, Baker, Eva, Balasubramanyam, Ashok, Barseghyan, Hayk, Batzli, Gabriel F, Beggs, Alan H, Behnam, Babak, Bellen, Hugo J, Bernstein, Jonathan A, Berry, Gerard T, Bican, Anna, Bick, David P, Birch, Camille L, Bonner, Devon, Boone, Braden E, Bostwick, Bret L, Briere, Lauren C, Brokamp, Elly, Brown, Donna M, Brush, Matthew, Burke, Elizabeth A, Butte, Manish J, Chen, Shan, Clark, Gary D, Coakley, Terra R, Cogan, Joy D, Colley, Heather A, Cooper, Cynthia M, Cope, Heidi, Craigen, William J, D’Souza, Precilla, Davids, Mariska, Davidson, Jean M, Dayal, Jyoti G, Dell’Angelica, Esteban C, Dhar, Shweta U, Dipple, Katrina M, Donnell-Fink, Laurel A, Dorrani, Naghmeh, Dorset, Daniel C, Douine, Emilie D, Draper, David D, Dries, Annika M, Duncan, Laura, Eckstein, David J, Emrick, Lisa T, Enns, Gregory M, Eskin, Ascia, and Esteves, Cecilia

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Clinical Research, Congenital Structural Anomalies, Pediatric, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Alleles, Animals, Cells, Cultured, Child, Child, Preschool, Chromosomal Instability, DNA Damage, Female, Fibroblasts, Genetic Association Studies, Genetic Variation, Humans, Mice, Mice, Knockout, Musculoskeletal Abnormalities, NF-kappa B, Osteochondrodysplasias, Exome Sequencing, Young Adult, Zebrafish, University of Washington Center for Mendelian Genomics, Undiagnosed Diseases Network, DNA repair, DNA replication, SPONASTRIME dysplasia, TONSL, exome sequencing, skeletal dysplasia, Medical and Health Sciences, Genetics & Heredity, Biological sciences, Biomedical and clinical sciences, Health sciences
Abstract

SPONASTRIME dysplasia is an autosomal-recessive spondyloepimetaphyseal dysplasia characterized by spine (spondylar) abnormalities, midface hypoplasia with a depressed nasal bridge, metaphyseal striations, and disproportionate short stature. Scoliosis, coxa vara, childhood cataracts, short dental roots, and hypogammaglobulinemia have also been reported in this disorder. Although an autosomal-recessive inheritance pattern has been hypothesized, pathogenic variants in a specific gene have not been discovered in individuals with SPONASTRIME dysplasia. Here, we identified bi-allelic variants in TONSL, which encodes the Tonsoku-like DNA repair protein, in nine subjects (from eight families) with SPONASTRIME dysplasia, and four subjects (from three families) with short stature of varied severity and spondylometaphyseal dysplasia with or without immunologic and hematologic abnormalities, but no definitive metaphyseal striations at diagnosis. The finding of early embryonic lethality in a Tonsl-/- murine model and the discovery of reduced length, spinal abnormalities, reduced numbers of neutrophils, and early lethality in a tonsl-/- zebrafish model both support the hypomorphic nature of the identified TONSL variants. Moreover, functional studies revealed increased amounts of spontaneous replication fork stalling and chromosomal aberrations, as well as fewer camptothecin (CPT)-induced RAD51 foci in subject-derived cell lines. Importantly, these cellular defects were rescued upon re-expression of wild-type (WT) TONSL; this rescue is consistent with the hypothesis that hypomorphic TONSL variants are pathogenic. Overall, our studies in humans, mice, zebrafish, and subject-derived cell lines confirm that pathogenic variants in TONSL impair DNA replication and homologous recombination-dependent repair processes, and they lead to a spectrum of skeletal dysplasia phenotypes with numerous extra-skeletal manifestations.

Published
2019

14. Towards Individualized Instruction with Technology-Enabled Tools and Methods: An Exploratory Study. CRESST Report 854

Author

National Center for Research on Evaluation, Standards, and Student Testing (CRESST), Chung, Gregory K. W. K., Delacruz, Girlie C., Dionne, Gary B., Baker, Eva L., Lee, John J., and Osmundson, Ellen

Abstract

This report addresses a renewed interest in individualized instruction, driven in part by advances in technology and assessment as well as a persistent desire to increase the access, efficiency, and cost effectiveness of training and education. Using computer-based instruction we delivered extremely efficient instruction targeted to low knowledge learners in sixth-grade algebra readiness classes and eighth-grade Algebra 1A classes. Our research questions were the following: (1) To what extent can very brief exposure to instruction result in learning? and (2) How effective is the instruction compared to no exposure? We found that computer-based "instructional parcels" can be developed to provide very brief instruction that results in learning of mathematics content. The following are appended: (1) Summary of Design Guidelines Implemented in Instruction; (2) Student Background Detail; (3) Student Background Measures; (4) Sample of Pretest Items and (5) Transfer Test Items.

Published
2016

15. Synergy and Tension between Large-Scale and Classroom Assessment: International Trends

Author

Volante, Louis, DeLuca, Christopher, Adie, Lenore, Baker, Eva, Harju-Luukkainen, Heidi, Heritage, Margaret, Schneider, Christoph, Stobart, Gordon, Tan, Kelvin, and Wyatt-Smith, Claire

Abstract

The synergy, or lack thereof, between large-scale and classroom assessment has been fiercely debated in both academic and policy spheres for decades around the world. This paper seeks to explicate how different countries are utilizing large-scale testing and test results at the classroom level. Through country profiles, this paper analyzes contemporary developments on the tensions and synergies between large-scale assessment and classroom teaching, learning, and assessment observed across seven international jurisdictions: United States, Canada, Australia, England, Germany, Finland, and Singapore. The paper concludes with an analysis of international trends leading to a synthesis of root causes contributing to the current limited uptake of large-scale assessment results at classroom levels.

Published
2020
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17. Phenotypic expansion of CACNA1C-associated disorders to include isolated neurological manifestations

Author

Rodan, Lance H., Spillmann, Rebecca C., Kurata, Harley T., Lamothe, Shawn M., Maghera, Jasmine, Jamra, Rami Abou, Alkelai, Anna, Antonarakis, Stylianos E., Atallah, Isis, Bar-Yosef, Omer, Bilan, Frédéric, Bjorgo, Kathrine, Blanc, Xavier, Van Bogaert, Patrick, Bolkier, Yoav, Burrage, Lindsay C., Christ, Björn U., Granadillo, Jorge L., Dickson, Patricia, Donald, Kirsten A., Dubourg, Christèle, Eliyahu, Aviva, Emrick, Lisa, Engleman, Kendra, Gonfiantini, Michaela Veronika, Good, Jean-Marc, Kalser, Judith, Kloeckner, Chiara, Lachmeijer, Guus, Macchiaiolo, Marina, Nicita, Francesco, Odent, Sylvie, O’Heir, Emily, Ortiz-Gonzalez, Xilma, Pacio-Miguez, Marta, Palomares-Bralo, María, Pena, Loren, Platzer, Konrad, Quinodoz, Mathieu, Ranza, Emmanuelle, Rosenfeld, Jill A., Roulet-Perez, Eliane, Santani, Avni, Santos-Simarro, Fernando, Pode-Shakked, Ben, Skraban, Cara, Slaugh, Rachel, Superti-Furga, Andrea, Thiffault, Isabelle, van Jaabrsveld, Richard H., Vincent, Marie, Wang, Hong-Gang, Zacher, Pia, Alejandro, Mercedes E., Azamian, Mahshid S., Bacino, Carlos A., Balasubramanyam, Ashok, Chao, Hsiao-Tuan, Clark, Gary D., Craigen, William J., Dai, Hongzheng, Dhar, Shweta U., Emrick, Lisa T., Goldman, Alica M., Hanchard, Neil A., Jamal, Fariha, Karaviti, Lefkothea, Lalani, Seema R., Lee, Brendan H., Lewis, Richard A., Marom, Ronit, Moretti, Paolo M., Murdock, David R., Nicholas, Sarah K., Orengo, James P., Posey, Jennifer E., Potocki, Lorraine, Samson, Susan L., Scott, Daryl A., Tran, Alyssa A., Vogel, Tiphanie P., Wangler, Michael F., Yamamoto, Shinya, Eng, Christine M., Liu, Pengfei, Ward, Patricia A., Behrens, Edward, Deardorff, Matthew, Falk, Marni, Hassey, Kelly, Sullivan, Kathleen, Vanderver, Adeline, Goldstein, David B., Cope, Heidi, McConkie-Rosell, Allyn, Schoch, Kelly, Shashi, Vandana, Smith, Edward C., Sullivan, Jennifer A., Tan, Queenie K.-G., Walley, Nicole M., Agrawal, Pankaj B., Beggs, Alan H., Berry, Gerard T., Briere, Lauren C., Cobban, Laurel A., Coggins, Matthew, Cooper, Cynthia M., Fieg, Elizabeth L., High, Frances, Holm, Ingrid A., Korrick, Susan, Krier, Joel B., Lincoln, Sharyn A., Loscalzo, Joseph, Maas, Richard L., MacRae, Calum A., Pallais, J. Carl, Rao, Deepak A., Silverman, Edwin K., Stoler, Joan M., Sweetser, David A., Walker, Melissa, Walsh, Chris A., Esteves, Cecilia, Kelley, Emily G., Kohane, Isaac S., LeBlanc, Kimberly, McCray, Alexa T., Nagy, Anna, Dasari, Surendra, Lanpher, Brendan C., Lanza, Ian R., Morava, Eva, Oglesbee, Devin, Bademci, Guney, Barbouth, Deborah, Bivona, Stephanie, Carrasquillo, Olveen, Chang, Ta Chen Peter, Forghani, Irman, Grajewski, Alana, Isasi, Rosario, Lam, Byron, Levitt, Roy, Liu, Xue Zhong, McCauley, Jacob, Sacco, Ralph, Saporta, Mario, Schaechter, Judy, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Zuchner, Stephan, Colley, Heather A., Dayal, Jyoti G., Eckstein, David J., Findley, Laurie C., Krasnewich, Donna M., Mamounas, Laura A., Manolio, Teri A., Mulvihill, John J., LaMoure, Grace L., Goldrich, Madison P., Urv, Tiina K., Doss, Argenia L., Acosta, Maria T., Bonnenmann, Carsten, D’Souza, Precilla, Draper, David D., Ferreira, Carlos, Godfrey, Rena A., Groden, Catherine A., Macnamara, Ellen F., Maduro, Valerie V., Markello, Thomas C., Nath, Avi, Novacic, Donna, Pusey, Barbara N., Toro, Camilo, Wahl, Colleen E., Baker, Eva, Burke, Elizabeth A., Adams, David R., Gahl, William A., Malicdan, May Christine V., Tifft, Cynthia J., Wolfe, Lynne A., Yang, John, Power, Bradley, Gochuico, Bernadette, Huryn, Laryssa, Latham, Lea, Davis, Joie, Mosbrook-Davis, Deborah, Rossignol, Francis, Ben Solomon, MacDowall, John, Thurm, Audrey, Zein, Wadih, Yousef, Muhammad, Adam, Margaret, Amendola, Laura, Bamshad, Michael, Beck, Anita, Bennett, Jimmy, Berg-Rood, Beverly, Blue, Elizabeth, Boyd, Brenna, Byers, Peter, Chanprasert, Sirisak, Cunningham, Michael, Dipple, Katrina, Doherty, Daniel, Earl, Dawn, Glass, Ian, Golden-Grant, Katie, Hahn, Sihoun, Hing, Anne, Hisama, Fuki M., Horike-Pyne, Martha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Lam, Christina, Maravilla, Kenneth, Mefford, Heather, Merritt, J. Lawrence, Mirzaa, Ghayda, Nickerson, Deborah, Raskind, Wendy, Rosenwasser, Natalie, Scott, C. Ron, Sun, Angela, Sybert, Virginia, Wallace, Stephanie, Wener, Mark, Wenger, Tara, Ashley, Euan A., Bejerano, Gill, Bernstein, Jonathan A., Bonner, Devon, Coakley, Terra R., Fernandez, Liliana, Fisher, Paul G., Fresard, Laure, Hom, Jason, Huang, Yong, Kohler, Jennefer N., Kravets, Elijah, Majcherska, Marta M., Martin, Beth A., Marwaha, Shruti, McCormack, Colleen E., Raja, Archana N., Reuter, Chloe M., Ruzhnikov, Maura, Sampson, Jacinda B., Smith, Kevin S., Sutton, Shirley, Tabor, Holly K., Tucker, Brianna M., Wheeler, Matthew T., Zastrow, Diane B., Zhao, Chunli, Byrd, William E., Crouse, Andrew B., Might, Matthew, Nakano-Okuno, Mariko, Whitlock, Jordan, Brown, Gabrielle, Butte, Manish J., Dell’Angelica, Esteban C., Dorrani, Naghmeh, Douine, Emilie D., Fogel, Brent L., Gutierrez, Irma, Huang, Alden, Krakow, Deborah, Lee, Hane, Loo, Sandra K., Mak, Bryan C., Martin, Martin G., Martínez-Agosto, Julian A., McGee, Elisabeth, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Palmer, Christina G.S., Papp, Jeanette C., Parker, Neil H., Renteria, Genecee, Signer, Rebecca H., Sinsheimer, Janet S., Wan, Jijun, Wang, Lee-kai, Perry, Katherine Wesseling, Woods, Jeremy D., Alvey, Justin, Andrews, Ashley, Bale, Jim, Bohnsack, John, Botto, Lorenzo, Carey, John, Pace, Laura, Longo, Nicola, Marth, Gabor, Moretti, Paolo, Quinlan, Aaron, Velinder, Matt, Viskochil, Dave, Bayrak-Toydemir, Pinar, Mao, Rong, Westerfield, Monte, Bican, Anna, Brokamp, Elly, Duncan, Laura, Hamid, Rizwan, Kennedy, Jennifer, Kozuira, Mary, Newman, John H., PhillipsIII, John A., Rives, Lynette, Robertson, Amy K., Solem, Emily, Cogan, Joy D., Cole, F. Sessions, Hayes, Nichole, Kiley, Dana, Sisco, Kathy, Wambach, Jennifer, Wegner, Daniel, Baldridge, Dustin, Pak, Stephen, Schedl, Timothy, Shin, Jimann, Solnica-Krezel, Lilianna, Rush, Eric, Pitt, Geoffrey S., and Au, Ping Yee Billie

Published
2021
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18. Heterozygous loss-of-function variants significantly expand the phenotypes associated with loss of GDF11

Author

Ravenscroft, Thomas A., Phillips, Jennifer B., Fieg, Elizabeth, Bajikar, Sameer S., Peirce, Judy, Wegner, Jeremy, Luna, Alia A., Fox, Eric J., Yan, Yi-Lin, Rosenfeld, Jill A., Zirin, Jonathan, Kanca, Oguz, Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanya, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bennet, Jimmy, Berg-Rood, Beverly, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonnenmann, Carsten, Bonner, Devon, Botto, Lorenzo, Boyd, Brenna, Briere, Lauren C., Brokamp, Elly, Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Deardorff, Matthew, Dell’Angelica, Esteban C., Dhar, Shweta U., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Draper, David D., Duncan, Laura, Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Esteves, Cecilia, Falk, Marni, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Findley, Laurie C., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fresard, Laure, Gahl, William A., Glass, Ian, Gochuico, Bernadette, Godfrey, Rena A., Golden-Grant, Katie, Goldman, Alica M., Goldrich, Madison P., Goldstein, David B., Grajewski, Alana, Groden, Catherine A., Gutierrez, Irma, Hahn, Sihoun, Hamid, Rizwan, Hanchard, Neil A., Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yong, Huryn, Laryssa, Isasi, Rosario, Jamal, Fariha, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Karaviti, Lefkothea, Kennedy, Jennifer, Kiley, Dana, Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Korrick, Susan, Koziura, Mary, Krier, Joel B., Lalani, Seema R., Lam, Byron, Lam, Christina, LaMoure, Grace L., Lanpher, Brendan C., Lanza, Ian R., Latham, Lea, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Longo, Nicola, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., MacDowall, John, Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Mak, Bryan C., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Maravilla, Kenneth, Markello, Thomas C., Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., McGee, Elisabeth, Mefford, Heather, Merritt, J. Lawrence, Might, Matthew, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Moretti, Paolo M., Mosbrook-Davis, Deborah, Mulvihill, John J., Murdock, David R., Nagy, Anna, Nakano-Okuno, Mariko, Nath, Avi, Nelson, Stan F., Newman, John H., Nicholas, Sarah K., Nickerson, Deborah, Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Palmer, Christina GS., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Power, Bradley, Pusey, Barbara N., Quinlan, Aaron, Raskind, Wendy, Raja, Archana N., Rao, Deepak A., Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenwasser, Natalie, Rossignol, Francis, Ruzhnikov, Maura, Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Scott, C. Ron, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Shashi, Vandana, Shin, Jimann, Signer, Rebecca, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solem, Emily, Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stoler, Joan M., Sullivan, Jennifer A., Sullivan, Kathleen, Sun, Angela, Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Amelia L.M., Tan, Queenie K.-G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Thurm, Audrey, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Tucker, Brianna M., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Wallace, Stephanie, Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Wener, Mark, Wenger, Tara, Perry, Katherine Wesseling, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Woods, Jeremy D., Yamamoto, Shinya, Yang, John, Yousef, Muhammad, Zastrow, Diane B., Zein, Wadih, Zhao, Chunli, Zuchner, Stephan, Benke, Paul J., Cameron, Eric S., Strehlow, Vincent, Platzer, Konrad, Jamra, Rami Abou, Klöckner, Chiara, Osmond, Matthew, Licata, Thomas, Rojas, Samantha, Dyment, David, Chong, Josephine S.C., Lincoln, Sharyn, Postlethwait, John H., Krier, Joel, and Bellen, Hugo J.

Published
2021
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20. Prospective phenotyping of NGLY1-CDDG, the first congenital disorder of deglycosylation

Author

Lam, Christina, Ferreira, Carlos, Krasnewich, Donna, Toro, Camilo, Latham, Lea, Zein, Wadih M, Lehky, Tanya, Brewer, Carmen, Baker, Eva H, Thurm, Audrey, Farmer, Cristan A, Rosenzweig, Sergio D, Lyons, Jonathan J, Schreiber, John M, Gropman, Andrea, Lingala, Shilpa, Ghany, Marc G, Solomon, Beth, Macnamara, Ellen, Davids, Mariska, Stratakis, Constantine A, Kimonis, Virginia, Gahl, William A, and Wolfe, Lynne

Subjects
Biological Sciences, Genetics, Neurosciences, Eye Disease and Disorders of Vision, Clinical Research, Clinical Trials and Supportive Activities, Adolescent, Adult, Albumins, Cerebrospinal Fluid Proteins, Child, Child, Preschool, Developmental Disabilities, Female, Glycoproteins, Glycosylation, Humans, Male, Mutation, Peptide-N4-(N-acetyl-beta-glucosaminyl) Asparagine Amidase, Phenotype, Young Adult, deglycosylation, glycosylation, natural history, NGLY1, NGLY1-CDDG, Clinical Sciences, Genetics & Heredity
Abstract

PurposeThe cytosolic enzyme N-glycanase 1, encoded by NGLY1, catalyzes cleavage of the β-aspartyl glycosylamine bond of N-linked glycoproteins, releasing intact N-glycans from proteins bound for degradation. In this study, we describe the clinical spectrum of NGLY1 deficiency (NGLY1-CDDG).MethodsProspective natural history protocol.ResultsIn 12 individuals ages 2 to 21 years with confirmed, biallelic, pathogenic NGLY1 mutations, we identified previously unreported clinical features, including optic atrophy and retinal pigmentary changes/cone dystrophy, delayed bone age, joint hypermobility, and lower than predicted resting energy expenditure. Novel laboratory findings include low cerebral spinal fluid (CSF) total protein and albumin and unusually high antibody titers toward rubella and/or rubeola following vaccination. We also confirmed and further quantified previously reported findings noting that decreased tear production, transient transaminitis, small feet, a complex hyperkinetic movement disorder, and varying degrees of global developmental delay with relatively preserved socialization are the most consistent features.ConclusionOur prospective phenotyping expands the clinical spectrum of NGLY1-CDDG, offers prognostic information, and provides baseline data for evaluating therapeutic interventions.Genet Med 19 2, 160-168.

Published
2017

21. The Effects of Math Video Games on Learning: A Randomized Evaluation Study with Innovative Impact Estimation Techniques. CRESST Report 841

Author

National Center for Research on Evaluation, Standards, and Student Testing, Chung, Gregory K. W. K., Choi, Kilchan, Baker, Eva L., and Cai, Li

Abstract

A large-scale randomized controlled trial tested the effects of researcher-developed learning games on a transfer measure of fractions knowledge. The measure contained items similar to standardized assessments. Thirty treatment and 29 control classrooms (~1500 students, 9 districts, 26 schools) participated in the study. Students in treatment classrooms played fractions games and students in the control classrooms played solving equations games. Multilevel multidimensional item response theory modeling of the outcome measure produced scaled scores that were more sensitive to the instructional treatment than standard measurement approaches. Hierarchical linear modeling of the scaled scores showed that the treatment condition performed significantly higher on the outcome measure than the control condition. The effect (d = 0.58) was medium to large (Cohen, 1992). Two appendices are included: (1) Descriptive Statistics of Pretest and Posttest Scores by Schools and Conditions; and (2) Summary of Efficacy Trial Procedures.

Published
2014

23. EFEMP1 haploinsufficiency causes a Marfan‐like hereditary connective tissue disorder.

Author

Forghani, Irman, Lang, Steven H., Rodier, Matthew J., Bivona, Stephanie A., Acosta, Maria T., Adam, Margaret, Adams, David R., Agrawal, Pankaj B., Alejandro, Mercedes E., Alvey, Justin, Amendola, Laura, Andrews, Ashley, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, and Bale, Jim

Abstract

Phenotypic features of a hereditary connective tissue disorder, including craniofacial characteristics, hyperextensible skin, joint laxity, kyphoscoliosis, arachnodactyly, inguinal hernia, and diverticulosis associated with biallelic pathogenic variants in EFEMP1 have been previously described in four patients. Genome sequencing on a proband and her mother with comparable phenotypic features revealed that both patients were heterozygous for a stop‐gain variant c.1084C>T (p.Arg362*). Complementary RNA‐seq on fibroblasts revealed significantly reduced levels of mutant EFEMP1 transcript. Considering the absence of other molecular explanations, we extrapolated that EFEMP1 could be the cause of the patient's phenotypes. Furthermore, nonsense‐mediated decay was demonstrated for the mutant allele as the principal mechanism for decreased levels of EFEMP1 mRNA. We provide strong clinical and genetic evidence for the haploinsufficiency of EFEMP1 due to nonsense‐medicated decay to cause severe kyphoscoliosis, generalized hypermobility of joints, high and narrow arched palate, and potentially severe diverticulosis. To the best of our knowledge, this is the first report of an autosomal dominant EFEMP1‐associated hereditary connective tissue disorder and therefore expands the phenotypic spectrum of EFEMP1 related disorders. [ABSTRACT FROM AUTHOR]

Published
2024
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24. Partial Loss of USP9X Function Leads to a Male Neurodevelopmental and Behavioral Disorder Converging on Transforming Growth Factor β Signaling

Author

Pena, Loren, Shashi, Vandana, Schoch, Kelly, Sullivan, Jennifer A., Acosta, Maria T., Adams, David R., Aday, Aaron, Alejandro, Mercedes E., Allard, Patrick, Ashley, Euan A., Azamian, Mahshid S., Bacino, Carlos A., Bademci, Guney, Baker, Eva, Balasubramanyam, Ashok, Baldridge, Dustin, Barbouth, Deborah, Batzli, Gabriel F., Beggs, Alan H., Bellen, Hugo J., Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bick, David P., Birch, Camille L., Bivona, Stephanie, Bonnenmann, Carsten, Bonner, Devon, Boone, Braden E., Bostwick, Bret L., Briere, Lauren C., Brokamp, Elly, Brown, Donna M., Brush, Matthew, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Carrasquillo, Olveen, Peter Chang, Ta Chen, Chao, Hsiao-Tuan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Cole, F. Sessions, Colley, Heather A., Cooper, Cynthia M., Cope, Heidi, Craigen, William J., D'Souza, Precilla, Dasari, Surendra, Davids, Mariska, Davidson, Jean M., Dayal, Jyoti G., Dell'Angelica, Esteban C., Dhar, Shweta U., Dorrani, Naghmeh, Dorset, Daniel C., Douine, Emilie D., Draper, David D., Dries, Annika M., Duncan, Laura, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Enns, Gregory M., Esteves, Cecilia, Estwick, Tyra, Fernandez, Liliana, Ferreira, Carlos, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Friedman, Noah D., Gahl, William A., Godfrey, Rena A., Goldman, Alica M., Goldstein, David B., Gourdine, Jean-Philippe F., Grajewski, Alana, Groden, Catherine A., Gropman, Andrea L., Haendel, Melissa, Hamid, Rizwan, Hanchard, Neil A., High, Frances, Holm, Ingrid A., Hom, Jason, Huang, Alden, Huang, Yong, Isasi, Rosario, Jamal, Fariha, Jiang, Yong-hui, Johnston, Jean M., Jones, Angela L., Karaviti, Lefkothea, Kelley, Emily G., Koeller, David M., Kohane, Isaac S., Kohler, Jennefer N., Krakow, Deborah, Krasnewich, Donna M., Korrick, Susan, Koziura, Mary, Krier, Joel B., Kyle, Jennifer E., Lalani, Seema R., Lam, Byron, Lanpher, Brendan C., Lanza, Ian R., Lau, C. Christopher, Lazar, Jozef, LeBlanc, Kimberly, Lee, Brendan H., Lee, Hane, Levitt, Roy, Levy, Shawn E., Lewis, Richard A., Lincoln, Sharyn A., Liu, Pengfei, Liu, Xue Zhong, Loo, Sandra K., Loscalzo, Joseph, Maas, Richard L., Macnamara, Ellen F., MacRae, Calum A., Maduro, Valerie V., Majcherska, Marta M., Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Markello, Thomas C., Marom, Ronit, Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, May, Thomas, McCauley, Jacob, McConkie-Rosell, Allyn, McCormack, Colleen E., McCray, Alexa T., Merker, Jason D., Metz, Thomas O., Might, Matthew, Morava-Kozicz, Eva, Moretti, Paolo M., Morimoto, Marie, Mulvihill, John J., Murdock, David R., Nath, Avi, Nelson, Stan F., Newberry, J. Scott, Newman, John H., Nicholas, Sarah K., Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pak, Stephen, Pallais, J. Carl, Palmer, Christina GS., Papp, Jeanette C., Parker, Neil H., Phillips, John A., III, Posey, Jennifer E., Postlethwait, John H., Potocki, Lorraine, Pusey, Barbara N., Renteri, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rowley, Robb K., Sacco, Ralph, Sampson, Jacinda B., Samson, Susan L., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Scott, Daryl A., Shakachite, Lisa, Sharma, Prashant, Shields, Kathleen, Shin, Jimann, Signer, Rebecca, Sillari, Catherine H., Silverman, Edwin K., Sinsheimer, Janet S., Smith, Kevin S., Solnica-Krezel, Lilianna, Spillmann, Rebecca C., Stoler, Joan M., Stong, Nicholas, Sweetser, David A., Tamburro, Cecelia P., Tan, Queenie K.-G., Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Urv, Tiina K., Vogel, Tiphanie P., Waggott, Daryl M., Wahl, Colleen E., Walley, Nicole M., Walsh, Chris A., Walker, Melissa, Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Waters, Katrina M., Webb-Robertson, Bobbie-Jo M., Wegner, Daniel, Westerfield, Monte, Wheeler, Matthew T., Wise, Anastasia L., Wolfe, Lynne A., Woods, Jeremy D., Worthey, Elizabeth A., Yamamoto, Shinya, Yang, John, Yoon, Amanda J., Yu, Guoyun, Zastrow, Diane B., Zhao, Chunli, Zuchner, Stephan, Gahl, William, Johnson, Brett V., Kumar, Raman, Oishi, Sabrina, Alexander, Suzy, Kasherman, Maria, Vega, Michelle Sanchez, Ivancevic, Atma, Gardner, Alison, Domingo, Deepti, Corbett, Mark, Parnell, Euan, Yoon, Sehyoun, Oh, Tracey, Lines, Matthew, Lefroy, Henrietta, Kini, Usha, Van Allen, Margot, Grønborg, Sabine, Mercier, Sandra, Küry, Sébastien, Bézieau, Stéphane, Pasquier, Laurent, Raynaud, Martine, Afenjar, Alexandra, Billette de Villemeur, Thierry, Keren, Boris, Désir, Julie, Van Maldergem, Lionel, Marangoni, Martina, Dikow, Nicola, Koolen, David A., VanHasselt, Peter M., Weiss, Marjan, Zwijnenburg, Petra, Sa, Joaquim, Reis, Claudia Falcao, López-Otín, Carlos, Santiago-Fernández, Olaya, Fernández-Jaén, Alberto, Rauch, Anita, Steindl, Katharina, Joset, Pascal, Goldstein, Amy, Madan-Khetarpal, Suneeta, Infante, Elena, Zackai, Elaine, Mcdougall, Carey, Narayanan, Vinodh, Ramsey, Keri, Mercimek-Andrews, Saadet, Pinto e Vairo, Filippo, Pichurin, Pavel N., Ewing, Sarah A., Barnett, Sarah S., Klee, Eric W., Perry, M. Scott, Koenig, Mary Kay, Keegan, Catherine E., Schuette, Jane L., Asher, Stephanie, Perilla-Young, Yezmin, Smith, Laurie D., Bhoj, Elizabeth, Kaplan, Paige, Li, Dong, Oegema, Renske, van Binsbergen, Ellen, van der Zwaag, Bert, Smeland, Marie Falkenberg, Cutcutache, Ioana, Page, Matthew, Armstrong, Martin, Lin, Angela E., Steeves, Marcie A., Hollander, Nicolette den, Hoffer, Mariëtte J.V., Reijnders, Margot R.F., Demirdas, Serwet, Koboldt, Daniel C., Bartholomew, Dennis, Mosher, Theresa Mihalic, Hickey, Scott E., Shieh, Christine, Sanchez-Lara, Pedro A., Graham, John M., Jr., Tezcan, Kamer, Schaefer, G.B., Danylchuk, Noelle R., Asamoah, Alexander, Jackson, Kelly E., Yachelevich, Naomi, Au, Margaret, Pérez-Jurado, Luis A., Kleefstra, Tjitske, Penzes, Peter, Wood, Stephen A., Burne, Thomas, Pierson, Tyler Mark, Piper, Michael, Gécz, Jozef, and Jolly, Lachlan A.

Published
2020
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25. GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study

Author

D’Souza, Precilla, primary, Farmer, Cristan, additional, Johnston, Jean, additional, Han, Sangwoo T, additional, Adams, David, additional, Hartman, Adam L., additional, Zein, Wadih, additional, Huryn, Laryssa A., additional, Solomon, Beth, additional, King, Kelly, additional, Jordan, Christopher, additional, Myles, Jennifer, additional, Nicoli, Elena-Raluca, additional, Rothermel, Caroline E, additional, Mojica Algarin, Yoliann, additional, Huang, Reyna, additional, Quimby, Rachel, additional, Zainab, Mosufa, additional, Bowden, Sarah, additional, Crowell, Anna, additional, Buckley, Ashura, additional, Brewer, Carmen, additional, Regier, Deborah, additional, Brooks, Brian, additional, Baker, Eva, additional, Vézina, Gilbert, additional, Thurm, Audrey, additional, and Tifft, Cynthia J, additional

Published
2024
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28. Progress Report Year 4: National Center for Research on Evaluation, Standards, and Student Testing (CRESST). The Development and Impact of POWERSOURCE[C]. CRESST Report 795

Author

National Center for Research on Evaluation, Standards, and Student Testing and Baker, Eva L.

Abstract

The POWERSOURCE[C] intervention is intended as a generalizable and powerful formative assessment strategy that can be integrated with any on-going mathematics curriculum to improve teachers' knowledge and practice and, in turn, student learning. Combining theory and research in cognition, assessment and learning (for both adults and students) with design elements to support the transformation of practice within existing constraints, POWERSOURCE[C] includes both a system of learning-based assessments and an infrastructure to support teachers' use of those assessments to improve student learning. The current study focuses on middle school mathematics, starting in grade 6, and on helping to assure that students possess key understandings they need for success in Algebra I. Such a focus is motivated by ample research showing the frequency and price of failure for subsequent academic performance, including high school graduation, college entry and preparation (e.g., Brown & Niemi, 2007). The author and her colleagues' primary research objectives are based on their hypotheses that as a result of POWERSOURCE[C], teachers will become more proficient in their subject matter knowledge, more skilled in their formative use of assessment, and better focus their instruction on key ideas, and, as a result, will be more effective in helping students to improve their understanding, as shown by measures of student learning. Ultimately, they expect the improvements in student understanding to drive better performance on No Child Left Behind (NCLB) mandated state tests, transfer measures, and future coursework. This report summarizes some of the key trends found across this qualitative data set. The findings provided some useful information and insights as the implementation continues to move into other schools or districts. (Contains 7 figures and 9 tables.)

Published
2011

29. The Effects of Practicing with a Virtual Ultrasound Trainer on FAST Window Identification, Acquisition, and Diagnosis. CRESST Report 787

Author

National Center for Research on Evaluation, Standards, and Student Testing, Chung, Gregory K. W. K., Gyllenhammer, Ruth G., and Baker, Eva L.

Abstract

In this study, we compared the effects of simulator-based virtual ultrasound scanning practice to classroom-based hands-on ultrasound scanning practice on participants' knowledge of FAST window quadrants and interpretation, and on participants' performance on live patient FAST exams. Twenty-five novice participants were randomly assigned to the simulation-practice condition and 24 participants to the classroom-practice condition. Participants were mostly medical school students, with some nursing students. Participants who received simulation-based practice scored significantly higher on interpreting static images of FAST windows. On live patient exams where participants scanned the RUQ, LUQ, and suprapubic quadrant of a normal patient and an ascites positive patient (6 quadrants total), there were no statistical differences between the two conditions on scan time, window acquisition, and window interpretation except for the following: the classroom-practice condition had shorter scan time for the LUQ, and a higher number of participants attaining high window quality on the RUQ (normal patient only) and suprapubic quadrant (positive patient only) and correct window interpretation on the LUQ (normal patient only). Performance was statistically similar on all other window quality and window interpretation measures on the other quadrants. Overall, classroom-based practice appeared to promote physical acquisition skills (e.g., acquiring a window) and simulator-based practice appeared to promote window interpretation skills. The simulator used (SonoSimulator[TM]) was well received by participants and appears promising as a training tool not only to increase probe time, but also to increase exposure to FAST windows reflecting various anatomy and disease states. Appendices include: (1) Posttest Form (Knowledge of Ultrasound and Background Survey); (2) Prior Knowledge of Anatomy Items; (3) Participant Feedback Form; (4) Participant Comments; (5) Picture of a Classroom Practice Session; (6) Picture of the Lab Setup; (7) Classroom Practice Observation Form; (8) Performance test Observation Form; (9) Picture of the Simulation Setup; (10) Simulation User Interface Screenshots; (11) Simulation Condition Directions; (12) Ultrasound Simulation Report; and (13) Sonographer Feedback Form. (Contains 11 tables, 3 figures and 3 footnotes.)

Published
2011

32. Problems with the Use of Student Test Scores to Evaluate Teachers. EPI Briefing Paper #278

Author

Economic Policy Institute, Baker, Eva L., Barton, Paul E., and Darling-Hammond, Linda

Abstract

Every classroom should have a well-educated, professional teacher, and school systems should recruit, prepare, and retain teachers who are qualified to do the job. Yet in practice, American public schools generally do a poor job of systematically developing and evaluating teachers. Many policy makers have recently come to believe that this failure can be remedied by calculating the improvement in students' scores on standardized tests in mathematics and reading, and then relying heavily on these calculations to evaluate, reward, and remove the teachers of these tested students. While there are good reasons for concern about the current system of teacher evaluation, there are also good reasons to be concerned about claims that measuring teachers' effectiveness largely by student test scores will lead to improved student achievement. If new laws or policies specifically require that teachers be fired if their students' test scores do not rise by a certain amount, then more teachers might well be terminated than is now the case. But there is not strong evidence to indicate either that the departing teachers would actually be the weakest teachers, or that the departing teachers would be replaced by more effective ones. There is also little or no evidence for the claim that teachers will be more motivated to improve student learning if teachers are evaluated or monetarily rewarded for student test score gains. A review of the technical evidence leads the authors to conclude that, although standardized test scores of students are one piece of information for school leaders to use to make judgments about teacher effectiveness, such scores should be only a part of an overall comprehensive evaluation. Some states are now considering plans that would give as much as 50% of the weight in teacher evaluation and compensation decisions to scores on existing tests of basic skills in math and reading. Based on the evidence, they consider this unwise. Any sound evaluation will necessarily involve a balancing of many factors that provide a more accurate view of what teachers in fact do in the classroom and how that contributes to student learning. (Contains 1 table and 64 endnotes.)

Published
2010

33. What Probably Works in Alternative Assessment. CRESST Report 772

Author

National Center for Research on Evaluation, Standards, and Student Testing and Baker, Eva L.

Abstract

This report provides an overview of what was known about alternative assessment at the time that the article was written in 1991. Topics include beliefs about assessment reform, overview of alternative assessment including research knowledge, evidence of assessment impact, and critical features of alternative assessment. The author notes that in the short term, alternative assessment will generate negative news about student learning and will require massive support to make it a successful reform strategy. (Contains 5 tables and 3 footnotes.)

Published
2010

34. Validity Evidence for Games as Assessment Environments. CRESST Report 773

Author

National Center for Research on Evaluation, Standards, and Student Testing, Delacruz, Girlie C., Chung, Gregory K. W. K., and Baker, Eva L.

Abstract

This study provides empirical evidence of a highly specific use of games in education--the assessment of the learner. Linear regressions were used to examine the predictive and convergent validity of a math game as assessment of mathematical understanding. Results indicate that prior knowledge significantly predicts game performance. Results also indicate that game performance significantly predicts posttest scores, even when controlling for prior knowledge. These results provide evidence that game performance taps into mathematical understanding. (Contains 2 figures.)

Published
2010

36. Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors

Author

Lam, Christina, Golas, Gretchen A, Davids, Mariska, Huizing, Marjan, Kane, Megan S, Krasnewich, Donna M, Malicdan, May Christine V, Adams, David R, Markello, Thomas C, Zein, Wadih M, Gropman, Andrea L, Lodish, Maya B, Stratakis, Constantine A, Maric, Irina, Rosenzweig, Sergio D, Baker, Eva H, Ferreira, Carlos R, Danylchuk, Noelle R, Kahler, Stephen, Garnica, Adolfo D, Schaefer, G Bradley, Boerkoel, Cornelius F, Gahl, William A, and Wolfe, Lynne A

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Congenital Structural Anomalies, Clinical Research, Brain Disorders, Intellectual and Developmental Disabilities (IDD), Pediatric, 2.1 Biological and endogenous factors, Aetiology, Congenital, Acyltransferases, Child, Developmental Disabilities, Fibroblasts, Frameshift Mutation, Glycosylphosphatidylinositols, Heterozygote, Humans, Muscle Hypotonia, Mutation, Missense, Skin, PIGT-CDG, Congenital disorder of glycosylation, Glycosylphosphatidylinositol anchor, Phenotype, Flow cytometry, Exome, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract

PIGT-CDG, an autosomal recessive syndromic intellectual disability disorder of glycosylphosphatidylinositol (GPI) anchors, was recently described in two independent kindreds [Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 (OMIM, #615398)]. PIGT encodes phosphatidylinositol-glycan biosynthesis class T, a subunit of the heteropentameric transamidase complex that facilitates the transfer of GPI to proteins. GPI facilitates attachment (anchoring) of proteins to cell membranes. We describe, at ages 7 and 6 years, two children of non-consanguineous parents; they had hypotonia, severe global developmental delay, and intractable seizures along with endocrine, ophthalmologic, skeletal, hearing, and cardiac anomalies. Exome sequencing revealed that both siblings had compound heterozygous variants in PIGT (NM_015937.5), i.e., c.918dupC, a novel duplication leading to a frameshift, and c.1342C > T encoding a previously described missense variant. Flow cytometry studies showed decreased surface expression of GPI-anchored proteins on granulocytes, consistent with findings in previous cases. These siblings further delineate the clinical spectrum of PIGT-CDG, reemphasize the neuro-ophthalmologic presentation, clarify the endocrine features, and add hypermobility, low CSF albumin quotient, and hearing loss to the phenotypic spectrum. Our results emphasize that GPI anchor-related congenital disorders of glycosylation (CDGs) should be considered in subjects with early onset severe seizure disorders and dysmorphic facial features, even in the presence of a normal carbohydrate-deficient transferrin pattern and N-glycan profiling. Currently available screening for CDGs will not reliably detect this family of disorders, and our case reaffirms that the use of flow cytometry and genetic testing is essential for diagnosis in this group of disorders.

Published
2015

37. Brain and behavior in 48, XXYY syndrome

Author

Hanley, Alli P, Blumenthal, Jonathan D, Lee, Nancy Raitano, Baker, Eva H, Clasen, Liv S, and Giedd, Jay N

Subjects
Biological Psychology, Biomedical and Clinical Sciences, Psychology, Neurosciences, Basic Behavioral and Social Science, Pediatric, Brain Disorders, Biomedical Imaging, Behavioral and Social Science, Mental Health, Rare Diseases, Mental health, Adolescent, Adult, Brain, Child, Child, Preschool, Cognition Disorders, Humans, Intelligence, Klinefelter Syndrome, Magnetic Resonance Imaging, Male, Problem Behavior, Social Skills, White Matter, Young Adult, Sex chromosomes aneuploidy, 48, XXYY, Brain anatomy, White matter lesions, 48, XXYY, Biological psychology, Clinical and health psychology
Abstract

The phenotype of 48, XXYY syndrome (referred to as XXYY) is associated with characteristic but variable developmental, cognitive, behavioral and physical abnormalities. To discern the neuroanatomical phenotype of the syndrome, we conducted quantitative and qualitative analyses on MRI brain scans from 25 males with XXYY and 92 age and SES matched typically developing XY males. Quantitatively, males in the XXYY group had smaller gray and white matter volumes of the frontal and temporal lobes. Conversely, both gray and white matter volumes of the parietal lobe as well as lateral ventricular volume were larger in the XXYY group. Qualitatively, males in the XXYY group had a higher incidence of colpocephaly (84% vs. 34%, p ≤ 0.001), white matter lesions (25% vs. 5%, p = 0.007), and thin posterior body of the corpus callosum (28% vs. 3%, p = 0.001). The specificity of these findings may shed light on the role of the X and Y chromosomes in typical and atypical brain development and help provide direction for future studies of brain-behavior relationships in males with XXYY syndrome.

Published
2015

38. The Effects of POWERSOURCE[C] Intervention on Student Understanding of Basic Mathematical Principles. CRESST Report 763

Author

National Center for Research on Evaluation, Standards, and Student Testing, Phelan, Julia, Choi, Kilchan, Vendlinski, Terry, Baker, Eva L., and Herman, Joan L.

Abstract

This report describes results from field-testing of POWERSOURCE[C] formative assessment alongside professional development and instructional resources. The researchers at the National Center for Research, on Evaluation, Standards, & Student Testing (CRESST) employed a randomized, controlled design to address the following question: Does the use of POWERSOURCE[C] strategies improve 6th-grade student performance on assessments of the key mathematical ideas relative to the performance of a comparison group? Sixth-grade teachers were recruited from 7 districts and 25 middle schools. A total of 49 POWERSOURCE[C] and 36 comparison group teachers and their students (2,338 POWERSOURCE[C], 1,753 comparison group students) were included in the study analyses. All students took a pretest of prerequisite knowledge and a transfer measure of tasks drawn from international tests at the end of the study year. Students in the POWERSOURCE[C] group used sets of formative assessment tasks. POWERSOURCE[C] teachers had exposure to professional development and instructional resources. Results indicated that students with higher pretest scores tended to benefit more from the treatment as compared to students with lower pretest scores. In addition, students in the POWERSOURCE[C] group significantly outperformed control group students on distributive property items and the effect was larger as pretest scores increased. Results, limitations and future directions are discussed. Four appendices are included: (1) Item Analysis Results of POWERSOURCE[C] pretest; (2) POWERSOURCE[C] Pretest questionnaire; (3) POWERSOURCE[C] Pretest questionnaire; and (4) Descriptive Statistics of Posttest scores by District and Treatment, School, Teacher in Between-School Design and Teacher in within-School (W-S) Design. (Contains 12 figures and 29 tables.)

Published
2009

39. Standards, Assessments, and Accountability. Education Policy White Paper

Author

National Academy of Education, Shepard, Lorrie, Hannaway, Jane, and Baker, Eva

Abstract

Standards-based education reform has a more than 20-year history. A standards-based vision was enacted in federal law under the Clinton administration with the 1994 reauthorization of the Elementary and Secondary Education Act (ESEA) and carried forward under the Bush administration with the No Child Left Behind Act (NCLB) of 2001. In a recent survey of policy makers, standards were acknowledged as the central framework guiding state education policy. Yet, despite this apparent unanimity about the intuitively appealing idea of standards, there is great confusion about its "operational" meaning: exactly what should the standards be, how should they be set and by whom, and how should they be applied to ensure rigorous and high-quality education for American students are the central questions that challenge policy makers and educators. For example, "content" standards (subject-matter descriptions of what students should know and be able to do) are often confused with "performance" standards (which are more like passing scores on a test), and very different theories of action are used to explain how standards-based reforms are expected to work. Ambitious rhetoric has called for systemic reform and profound changes in curriculum and assessments to enable higher levels of learning. In reality, however, implementation of standards has frequently resulted in a much more familiar policy of test-based accountability, whereby test items often become crude proxies for the standards. This disconnect between rhetoric and reality is one of the reasons for the failure of prior reforms. Standards-based education is still the core idea guiding education policy and education reform. But the foregoing issues need to be addressed if the promises of standards-based education are to be kept. As yet, neither state content standards nor state tests reflect the ambitions of standards-based reform rhetoric, and the link between high expectations for all students and capacity building has been almost forgotten. The intentions of standards-based education--to focus greater attention on student learning, to ensure the participation and success of all students, and to provide guidance for educational improvement--are in the best interest of the country. This paper offers the following recommendations: (1) The federal government should encourage the redesign and clear connection of content and performance standards--and the curricula, teacher training, and high-quality assessments to go with them--with the goal of developing clearly articulated statements of the expected progression of learning. Efforts to develop these components may involve partnerships among states, universities, groups of teachers, scholars, and the private sector; (2) The federal government should support research on accountability system indicators to reflect both the status and growth of students. Performance standards should set ambitious but realistic targets for teaching and learning, and they should communicate to the public, parents, educators, and students themselves what is to be learned. Assessment results should be reported in ways that recognize progress all along the achievement continuum; (3) The federal government should support the redesign and ongoing evaluation of accountability systems to ensure that they contribute to school improvement. Less than satisfactory school performance should trigger closer investigation of school operations before remedies or sanctions are applied, and stellar performances should also be verified. Different investigative approaches, including audit assessments, data-driven analyses, or expert constituted inspectorates, should be considered; and (4) The federal government should support an intensive program of research and development to create the next generation of performance assessments explicitly linked to well-designed content standards and curricula. (Contains 77 notes.)

Published
2009

40. Using Data and Big Ideas: Teaching Distribution as an Instance of Repeated Addition. CRESST Report 734

Author

National Center for Research on Evaluation, Standards, and Student Testing, Vendlinski, Terry P., Howard, Keith E., Hemberg, Bryan C., Vinyard, Laura, Martel, Annabel, Kyriacou, Elizabeth, Casper, Jennifer, Chai, Yourim, Phelan, Julia C., and Baker, Eva L.

Abstract

The inability of students to become proficient in algebra seems to be widespread in American schools. One of the reasons often cited for this inability is that instruction seldom builds on prior knowledge. Research suggests that teacher effectiveness is the most critical controllable variable in improving student achievement. This report details a process of formative assessment and professional development (called PowerSource), which is designed to improve teacher effectiveness and student achievement. We describe the process we used to develop a model of distribution over addition and subtraction, one of three big ideas developed during the year, and the interactions we had with teachers about teaching distribution in various ways. As a consequence of these interactions, we were able to test whether teaching distribution using the notion of multiplication as repeated addition (a concept which students had learned previously), using array or area models, or teaching it procedurally had the greatest effects on student learning. We found that the repeated addition model was not only less likely to create certain student misconceptions, but also found that students taught using the repeated addition model were more likely to correctly answer questions involving distribution than were their counterparts taught using either of the other methods. Teachers subsequently reported that they preferred teaching distribution as an instance of repeated addition than teaching it using other available methods. (Contains 12 tables, 2 figures, and 1 footnote.)

Published
2008

41. Templates and Objects in Authoring Problem-Solving Assessments. CRESST Report 735

Author

National Center for Research on Evaluation, Standards, and Student Testing, Vendlinski, Terry P., Baker, Eva L., and Niemi, David

Abstract

Assessing whether students can both re-present a corpus of learned knowledge and also demonstrate that they can apply that knowledge to solve problems is key to assessing student understanding. This notion, in turn, impacts our thinking about what we assess, how we author such assessments, and how we interpret assessment results. The diffusion of technology into venues of learning offers new opportunities in the area of student assessment. Specifically, computer-based simulations seem to provide sufficiently rich environments and the tools necessary to allow us to infer accurately how well a student's individual mental model of the world can accommodate, integrate, and be used to exploit concepts from a domain of interest. In this paper then, we first identify the characteristics of simulations that our experience suggests are necessary to make them appropriate for pedagogical and assessment purposes. Next, we discuss the models and frameworks (templates) we have used to ensure these characteristics are considered. Finally, we describe two computerized instantiations (objects) of these frameworks and implications for the follow-on design of simulations. (Contains 3 footnotes.) [The work reported in this document was supported by the Inter-agency Educational Research Initiative. This report was first printed as chapter 16 of "Assessments of Problem Solving Using Simulations" (Vendlinski, Baker, & Niemi, 2008).]

Published
2008

42. Towards Individualized Instruction with Technology-Enabled Tools and Methods

Author

Chung, Gregory K. W. K., Delacruz, Girlie C., Dionne, Gary B., Baker, Eva L., Lee, John, and Osmundson, Ellen

Abstract

In this study we explored the effectiveness of individualizing instruction using a system that diagnosed students' knowledge gaps in pre-algebra and provided individualized instruction and practice. One hundred middle school students participated, and received either no instruction or individualized computer-based instruction. Diagnosis of individual student knowledge gaps was based on a rapid 90-item pretest that mapped to a Bayesian network of presumed knowledge dependencies among various pre-algebra concepts. Given a diagnosis, a student received computer-based direct instruction. Instruction was generally less than 5 minutes followed by practice opportunities and its design was based on empirically supported features. In 4 out of 6 posttest scales, compared to students receiving no instruction, students who were diagnosed as low-knowledge on a concept and received instruction on that concept performed higher on the posttest scale for that concept with effect sizes ranging from .76 to .91. This finding held only for students who were engaged in the task (i.e., compliant as measured by participants' clickstream). This finding provides support for the idea that very brief instruction can be developed for pre-algebra concepts, be matched to an individual, and be effective. Implications are discussed for the development of "dumb" instructional and assessment systems (vs. "smart" systems such as intelligent tutoring systems), empirically guided instructional design, instructional efficiency using technology-enabled techniques, and the importance of gathering process data to measure degree of implementation. (Contains 7 tables. The following are appended: (1) Summary of Design Guidelines Implemented in Instruction; (2) Student Background Detail; (3) Student Background Measures; (4) Sample of Pretest Items; and (5) Transfer Test Items.)

Published
2007

43. Moving to the Next Generation System Design: Integrating Cognition, Assessment, and Learning. CSE Report 706

Author

National Center for Research on Evaluation, Standards, and Student Testing, Los Angeles, CA. and Baker, Eva L.

Abstract

This paper will describe the relationships between research on learning and its application in assessment models and operational systems. These have been topics of research at the National Center for Research on Evaluation, Standards, and Student Testing (CRESST) for more than 20 years and form a significant part of the intellectual foundation of our present research Center supported by the Institute of Education Sciences. This description serves as the context for the presentation of CRESST efforts in building the POWERSOURCE[C] assessment system as described in subsequent papers delivered at Session N2 of the 2006 annual meeting of the National Council on Measurement in Education. (Contains 3 figures, 1 table, and 1 footnote.)

Published
2007

44. Automated Assessment of Domain Knowledge with Online Knowledge Mapping. CSE Technical Report 692

Author

National Center for Research on Evaluation, Standards, and Student Testing, Los Angeles, CA., Chung, Gregory K. W. K., Baker, Eva L., and Brill, David G.

Abstract

A critical first step in developing training systems is gathering quality information about a trainee's competency in a skill or knowledge domain. Such information includes an estimate of what the trainee knows prior to training, how much has been learned from training, how well the trainee may perform in future task situations, and whether to recommend remediation to bolster the trainee's knowledge. This paper describes the design, development, testing, and application of a Web-based tool designed to assess a trainee's understanding of a content domain in a distributed learning environment. The tool, called the CRESST Human Performance Knowledge Mapping Tool (HPKMT), enables trainees to express their understanding of a content area by creating graphical, network representations of concepts and links that define the relationships of concepts. Knowledge mappers have been used for several years, almost always as an aid for organizing information in support of problem solving or in instructional applications. To use knowledge maps as assessments there must be a reliable scoring method and there must be evidence for the validity of scores produced by the method. Further, to be practical in a distributed learning environment, the scoring should be automated. The HPKMT provides automated, reliable, and valid scoring, and its functionality and scoring method have been built from a base of empirical research. We review and evaluate alternative knowledge mapping scoring methods and online mapping systems. We then describe the overall design approach, functionality, scoring method, usability testing, and authoring capabilities of the CRESST HPKMT. The paper ends with descriptions of applications of the HPKMT to military training, limitations of the system, and next steps. (Contains 2 tables and 3 figures.)

Published
2006

45. Evaluation of Seeds of Science/Roots of Reading Project: 'Shoreline Science' and 'Terrarium Investigations.' CSE Technical Report 676

Author

National Center for Research on Evaluation, Standards, and Student Testing, University of California, Los Angeles, Center for the Study of Evaluation, Wang, Jia, and Baker, Eva L.

Abstract

This project was initiated in order to evaluate two literacy and science integrated instruction units, "Shoreline Science" and "Terrarium Investigations," designed by the Lawrence Hall of Science "Seeds of Science/Roots of Reading" Project ("Seeds/Roots"). We examined how the integrated units affect student interest, motivation, and learning, as well as evaluating the units' quality, usability, and utility using both quantitative and qualitative approaches. Through analyses of student performance and teacher interviews, we found "Shoreline Science" and "Terrarium Investigations" beneficial to both students and teachers. Teachers were highly motivated to use the materials, and "Shoreline Science" and "Terrarium Investigations" students learned significantly more than the control group students in all science and literacy measures on which the differences were expected. The following are appended: (1) Terrarium Investigations Results on Four Groups; (2) Teacher Interview Protocol; (3) Shoreline Science Teacher Profiles; (4) Shoreline Science Coding Summary; (5) Terrarium Investigations Teacher Profiles; and (6) Terrarium Investigations Coding Summary. (Contains 16 footnotes and 23 tables.)

Published
2006

46. Improving Accountability Models by Using Technology-Enabled Knowledge Systems (TEKS). CSE Report 656

Author

California Univ., Los Angeles. Center for the Study of Evaluation. and Baker, Eva L.

Abstract

This paper addresses accountability and the role emerging technologies can play in improving education. The connection between accountability and technology can be best summarized in one term: feedback. Technological supports provide ways of designing, collecting and sharing information in order to provide the basis for the improvement of systems and outcomes. Because technological options are so varied and the future of their development unpredictable, the paper argues that the first screen for the review of technology is one addressing core functions that technology serves. Technologies can provide greater efficiency in managing information or serve to improve the quality of the information used to guide the system. At this point, these functions are frequently mutually exclusive, but in the future, wise selection of technology should involve a consideration of how the technology adds value by increasing quality and efficiency in the enterprise. Quality is added when more knowledge is available to the user. For choices that need to be made about investments, a set of criteria is provided to guide decision logic. Criteria include validity, accuracy, and utility, with an emphasis on users directly involved in learning (students and teachers). In addition, criteria are reviewed related to software/hardware operation, including security, backup, compatibility, resilience, and transparency. The assumption is that systematic application of criteria will influence the market to drive development of more useful systems for education at a cost that can be withstood. Throughout, examples of technology uses now and soon to be available are discussed. The paper concludes with two extended educational scenarios constructed to show elements of design and technology in practice in two very different settings.

Published
2005

47. Aligning Curriculum, Standards, and Assessments: Fulfilling the Promise of School Reform. CSE Report 645

Author

California Univ., Los Angeles. Center for the Study of Evaluation. and Baker, Eva L.

Abstract

Throughout the last 40 years, educational policymakers have designed educational interventions for the purpose of improving the learning of disadvantaged students and of children with special needs, beginning with the Elementary and Secondary Education Act of 1965 (ESEA). More than 20 years ago, with the publication of "A Nation at Risk" (National Commission on Excellence in Education, 1983), American educational policy widened its focus to include the learning and achievement of all children, in part as a reaction to U.S. students' mediocre performance rank in international achievement comparisons. In the current climate, educational improvement is no less important an end. The most recent and expansive legislation, the renewal of the ESEA, articulated in the language and policies supporting the No Child Left Behind Act of 2001 (NCLB, 2002), emphasizes the importance of the measured achievement of all students. In a framework that emphasizes accountability as the path to growth, NCLB archetypically demands a system where responsibility for outcomes is located and sanctions (or rewards) are assigned. This article refers to this amalgamated set of strategies Results-Based Reform (RBR). The focus of this piece is alignment. Alignment is the ether in which float the component parts of RBR. The logic of actions, the accuracy of inferences, and at the core, any reason at all to believe that systematic action will achieve positive results in an RBR framework depend on alignment. The article concludes alignment should be treated as a goal rather than as a bureaucratic requirement to be checked off. In addition, more powerful conceptual analyses and tools to achieve reform ends are needed. Finding the centripetal elements that hold systems together--cognitive demands that can be taught, learned, measured, and transferred--and the social capital that motivates and energizes effort--or identifiable shared experience is important. Only a system that is held together from the inside can stimulate the deep and useful learning of all children.

Published
2004

48. Principles for Scaling Up: Choosing, Measuring Effects, and Promoting the Widespread Use of Educational Innovation. CSE Report 634

Author

California Univ., Los Angeles. Center for the Study of Evaluation. and Baker, Eva L.

Abstract

The goal of scaling up of educational innovation is to produce robust, effective, replicable outcomes. This report addresses requirements to support scale-up of scientifically vetted innovation (or new ideas that are built on the findings of quality research and development). In this report, a number of issues are considered: the context of evidence of effectiveness, definitions of scaling up, how to measure implementation and effects, and areas in need of continuing work, from the research point of view. The analyses grow in part from long-ago research training and in part recent R&D efforts. Recommendations are compressed into principles to guide action, elaborated with rationale and discussion, and then illustrated by a running example of CRESST's Model-Based Assessment program. The principles are: Principle 1: Understand the Appropriateness of the Evidence for the Innovation; Principle 2: Document the Scientific Evidence in Support of the Design of the Intervention; Principle 3: Embrace Design and Development; Principle 4: Measure a Broad Range of Variables in Formative Evaluation; Principle 5: Design the Best Study Possible; Principle 6: Support Flexibility and Local Innovation. The ultimate goal is the articulation of usable principles for scaling up and a contribution to the definition of the slippery concept of scaling up; Principle 7: Minimums for Scalability and Sustainability.

Published
2004

49. Accountability Systems in Support of Students Learning: Moving to the Next Generation. CRESST Line, Spring 2004

Author

Center for Research on Evaluation, Standards, and Student Testing, Los Angeles, CA., Herman, Joan L., Baker, Eva L., and Linn, Robert L.

Abstract

This focus of this newsletter asserts that if one accepts that accountability systems are intended to serve both symbolic and technical functions, one can ask how well they are operating symbolically to motivate action and how well they are doing in providing adequate technical information to support intended inferences. In this column, it is argued that while accountability may be accomplishing its motivational goals, current systems may be technically inadequate for serving ultimate goals of improving student learning. While the federal government recently has offered states new flexibility in counting students for AYP purposes, important issues remain in optimizing the learning value of accountability assessments. Unless and until they seriously incorporate local and/or classroom assessment (performance assessment), accountability systems cannot assure adequate reliability and validity for individual decision-making purposes and cannot provide necessary information to support student learning. One idea for system design is presented by the authors here.

Published
2004

50. From Usable to Useful Assessment Knowledge: A Design Problem. CSE Report.

Author

National Center for Research on Evaluation, Standards, and Student Testing, Los Angeles, CA., California Univ., Los Angeles. Center for the Study of Evaluation., and Baker, Eva L.

Abstract

Policymakers are fond of saying that we have enough research knowledge; however, one problem is that nobody is applying the knowledge we already have. This paper offers a discussion of the kinds of knowledge needed to improve students learning, what to do about this in the assessment and testing arena, and where assessment falls short. Types of knowledge are discussed, including research knowledge, which must be both usable and useful. Distinctions are made between usable and useful knowledge, and a case is made for how we might ultimately design our systems and our own actions to help us act with greater intelligence. (Author)

Published
2003

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