1,361 results on '"Cohen, Julie"'
Search Results
2. The Promises and Pitfalls of Using Language Models to Measure Instruction Quality in Education
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Xu, Paiheng, Liu, Jing, Jones, Nathan, Cohen, Julie, and Ai, Wei
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Computer Science - Computation and Language ,Computer Science - Artificial Intelligence - Abstract
Assessing instruction quality is a fundamental component of any improvement efforts in the education system. However, traditional manual assessments are expensive, subjective, and heavily dependent on observers' expertise and idiosyncratic factors, preventing teachers from getting timely and frequent feedback. Different from prior research that mostly focuses on low-inference instructional practices on a singular basis, this paper presents the first study that leverages Natural Language Processing (NLP) techniques to assess multiple high-inference instructional practices in two distinct educational settings: in-person K-12 classrooms and simulated performance tasks for pre-service teachers. This is also the first study that applies NLP to measure a teaching practice that is widely acknowledged to be particularly effective for students with special needs. We confront two challenges inherent in NLP-based instructional analysis, including noisy and long input data and highly skewed distributions of human ratings. Our results suggest that pretrained Language Models (PLMs) demonstrate performances comparable to the agreement level of human raters for variables that are more discrete and require lower inference, but their efficacy diminishes with more complex teaching practices. Interestingly, using only teachers' utterances as input yields strong results for student-centered variables, alleviating common concerns over the difficulty of collecting and transcribing high-quality student speech data in in-person teaching settings. Our findings highlight both the potential and the limitations of current NLP techniques in the education domain, opening avenues for further exploration., Comment: NAACL 2024
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- 2024
3. Recurring homozygous ACTN2 variant (p.Arg506Gly) causes a recessive myopathy.
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Donkervoort, Sandra, Mohassel, Payam, OLeary, Melanie, Bonner, Devon, Hartley, Taila, Acquaye, Nicole, Brull, Astrid, Saporta, Mario, Dyment, David, Sampson, Jacinda, Pajusalu, Sander, Austin-Tse, Christina, Hurth, Kyle, Cohen, Julie, McWalter, Kirsty, Warman-Chardon, Jodi, Crunk, Amy, Foley, A, Mammen, Andrew, Wheeler, Matthew, ODonnell-Luria, Anne, Bönnemann, Carsten, and Mozaffar, Tahseen
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Adult ,Humans ,Muscular Diseases ,Muscle ,Skeletal ,Actinin ,Phenotype ,Cardiomyopathies - Abstract
OBJECTIVE: ACTN2, encoding alpha-actinin-2, is essential for cardiac and skeletal muscle sarcomeric function. ACTN2 variants are a known cause of cardiomyopathy without skeletal muscle involvement. Recently, specific dominant monoallelic variants were reported as a rare cause of core myopathy of variable clinical onset, although the pathomechanism remains to be elucidated. The possibility of a recessively inherited ACTN2-myopathy has also been proposed in a single series. METHODS: We provide clinical, imaging, and histological characterization of a series of patients with a novel biallelic ACTN2 variant. RESULTS: We report seven patients from five families with a recurring biallelic variant in ACTN2: c.1516A>G (p.Arg506Gly), all manifesting with a consistent phenotype of asymmetric, progressive, proximal, and distal lower extremity predominant muscle weakness. None of the patients have cardiomyopathy or respiratory insufficiency. Notably, all patients report Palestinian ethnicity, suggesting a possible founder ACTN2 variant, which was confirmed through haplotype analysis in two families. Muscle biopsies reveal an underlying myopathic process with disruption of the intermyofibrillar architecture, Type I fiber predominance and atrophy. MRI of the lower extremities demonstrate a distinct pattern of asymmetric muscle involvement with selective involvement of the hamstrings and adductors in the thigh, and anterior tibial group and soleus in the lower leg. Using an in vitro splicing assay, we show that c.1516A>G ACTN2 does not impair normal splicing. INTERPRETATION: This series further establishes ACTN2 as a muscle disease gene, now also including variants with a recessive inheritance mode, and expands the clinical spectrum of actinopathies to adult-onset progressive muscle disease.
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- 2024
4. The Inverse Relationship between Secrecy and Privacy
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Cohen, Julie E.
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- 2014
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5. Aorta Without Coronary Arteries: Anatomic Variants of a Rare Malformation
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Karila-Cohen, Julie, Laux, Daniela, Houyel, Lucile, and Bonnet, Damien
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- 2024
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6. Measuring Conversational Uptake: A Case Study on Student-Teacher Interactions. EdWorkingPaper No. 21-424
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Annenberg Institute for School Reform at Brown University, Demszky, Dorottya, Liu, Jing, Mancenido, Zid, Cohen, Julie, Hill, Heather C., Jurafsky, Dan, and Hashimoto, Tatsunori
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In conversation, "uptake" happens when a speaker builds on the contribution of their interlocutor by, for example, acknowledging, repeating or reformulating what they have said. In education, teachers' uptake of student contributions has been linked to higher student achievement. Yet measuring and improving teachers' uptake at scale is challenging, as existing methods require expensive annotation by experts. We propose a framework for computationally measuring uptake, by (1) releasing a dataset of student-teacher exchanges extracted from US math classroom transcripts annotated for uptake by experts; (2) formalizing uptake as pointwise Jensen-Shannon Divergence (pJSD), estimated via next utterance classification; (3) conducting a linguistically-motivated comparison of different unsupervised measures and (4) correlating these measures with educational outcomes. We find that although repetition captures a significant part of uptake, pJSD outperforms repetition-based baselines, as it is capable of identifying a wider range of uptake phenomena like question answering and reformulation. We apply our uptake measure to three different educational datasets with outcome indicators. Unlike baseline measures, pJSD correlates significantly with instruction quality in all three, providing evidence for its generalizability and for its potential to serve as an automated professional development tool for teachers.
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- 2021
7. Dominantly acting variants in ATP6V1C1 and ATP6V1B2 cause a multisystem phenotypic spectrum by altering lysosomal and/or autophagosome function
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Carpentieri, Giovanna, Cecchetti, Serena, Bocchinfuso, Gianfranco, Radio, Francesca Clementina, Leoni, Chiara, Onesimo, Roberta, Calligari, Paolo, Pietrantoni, Agostina, Ciolfi, Andrea, Ferilli, Marco, Calderan, Cristina, Cappuccio, Gerarda, Martinelli, Simone, Messina, Elena, Caputo, Viviana, Hüffmeier, Ulrike, Mignot, Cyril, Auvin, Stéphane, Capri, Yline, Lourenco, Charles Marques, Russell, Bianca E., Neustad, Ahna, Brunetti Pierri, Nicola, Keren, Boris, Reis, André, Cohen, Julie S., Heidlebaugh, Alexis, Smith, Clay, Thiel, Christian T., Salviati, Leonardo, Zampino, Giuseppe, Campeau, Philippe M., Stella, Lorenzo, Tartaglia, Marco, and Flex, Elisabetta
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- 2024
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8. Policy Implementation, Principal Agency, and Strategic Action: Improving Teaching Effectiveness in New York City Middle Schools
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Cohen, Julie, Loeb, Susanna, Miller, Luke C., and Wyckoff, James H.
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Ten years ago, the reform of teacher evaluation was touted as a mechanism to improve teacher effectiveness. In response, virtually every state redesigned its teacher evaluation system. Recently, a growing narrative suggests these reforms failed and should be abandoned. This response may be overly simplistic. We explore the variability of New York City principals' implementation of policies intended to promote teaching effectiveness. Drawing on survey, interview, and administrative data, we analyze whether principals believe they can use teacher evaluation and tenure policies to improve teaching effectiveness and how such perceptions influence policy implementation. We find that principals with greater perceived agency are more likely to strategically use tenure and evaluation policies. Results have important implications for principal training and policy implementation.
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- 2020
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9. The Convergence of Emotionally Supportive Learning Environments and College and Career Ready Mathematical Engagement in Upper Elementary Classrooms
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Berlin, Rebekah and Cohen, Julie
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Research focused on emotionally supportive teaching has typically run in parallel to the study of rigorous, standards-aligned mathematics teaching. However, recent work theorizes that positive and warm classroom environments may be necessary to help students meet the ambitious goals outlined in newer mathematics standards. We analyze the relationship between facets of classroom environments and the prevalence of standards-aligned mathematics instruction across more than 400 mathematics lessons in Washington, D.C., classrooms. We find no evidence of consistent standards-aligned mathematical engagement absent an engaging, emotionally supportive learning environment. These findings suggest that efforts to help teachers make the instructional shifts outlined in college and career ready standards might also need to support the provision of productive, warm, and nurturing learning environments.
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- 2020
10. Supporting Professional Learning at Scale: Evidence from the District of Columbia Public Schools
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Cohen, Julie and Wiseman, Emily
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Background/Context: Professional development (PD) programs have been the primary tool school districts have used to improve teachers' knowledge and skills, though the evidence is mixed on the degree to which these investments translate into improved outcomes for teachers and their students. Further, most research has tracked researcher-designed and researcher-implemented programs, meaning we know far less about the outcomes of PD designed and implemented by districts. Given that implementation and associated outcomes may look different without tight research parameters, we need more systematic research about district-designed and implemented PD. During early years of PD implementation, it is more likely to observe changes in more proximal outcomes, including an increased sense of trust and collaboration with colleagues, which could, in turn, support teacher retention. Any intervention, but especially those that necessitate substantial changes in instructional activities, likely takes time to promote changes to downstream outcomes like highstakes assessments of teaching and student achievement. Purpose/Objective/Research Question/Focus of Study: We analyze the relationship between the design and implementation of an ambitious PD/professional learning (PL) program, called Learning Together to Advance Our Practice (LEAP), and a range of outcomes across 3,000 teachers in the District of Columbia Public Schools (DCPS). We examine the extent to which teacher-reported frequency of participation in two specific PD structures--one-on-one coaching and team seminars--are each associated with improved outcomes of interest. Proximal outcomes include teacher perceptions of the PL program and peer culture at their school, as well as school- and district-wide retention. More distal measures include teacher classroom practice and student achievement. Research Design: We capitalize on researcher-designed and district-administered survey questions, along with rich administrative data, to understand the relationship between this at-scale, intensive PL program and a range of outcomes over two years, from 2016 to 2018. DCPS implemented LEAP simultaneously in every school at the beginning of the 2016--2017 school year. As a result, our ability to identify how our outcome variables would have changed in the absence of LEAP is limited. We address this issue by measuring differential implementation because the frequency of teacher participation in LEAP varied within schools, within LEAP teams within a year, or within a teacher across a two-year period. We hypothesize that more exposure to LEAP yields greater improvements in outcomes. In separate models, we attempt to limit competing explanations by controlling for: (1) observable attributes of teachers and time, and unobservable, time-invariant attributes of schools; (2) unobservable, time-invariant attributes of LEAP teams; and (3) unobservable, timeinvariant attributes of teachers. Conclusions/Recommendations: We find that greater reported engagement with LEAP is associated with improved teacher perceptions of LEAP and the peer culture at their school, as well as improved teacher retention, especially at the school level. This suggests that PL programs that center within-school connections and supports for teachers--in this case, vertically structured LEAP teams led by schoolbased LEAP leaders--may support positive school-level outcomes. However, we find little evidence of improved teacher skills and teacher contributions to student achievement, at least in the first two years of LEAP implementation. It will take more time and research to understand the degree to which and ways in which the district's investment in LEAP is associated with the range of desired outcomes.
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- 2022
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11. Clinical and functional consequences of GRIA variants in patients with neurological diseases
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XiangWei, Wenshu, Perszyk, Riley E., Liu, Nana, Xu, Yuchen, Bhattacharya, Subhrajit, Shaulsky, Gil H., Smith-Hicks, Constance, Fatemi, Ali, Fry, Andrew E., Chandler, Kate, Wang, Tao, Vogt, Julie, Cohen, Julie S., Paciorkowski, Alex R., Poduri, Annapurna, Zhang, Yuehua, Wang, Shuang, Wang, Yuping, Zhai, Qiongxiang, Fang, Fang, Leng, Jie, Garber, Kathryn, Myers, Scott J., Jauss, Robin-Tobias, Park, Kristen L., Benke, Timothy A., Lemke, Johannes R., Yuan, Hongjie, Jiang, Yuwu, and Traynelis, Stephen F.
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- 2023
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12. Measuring Conversational Uptake: A Case Study on Student-Teacher Interactions
- Author
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Demszky, Dorottya, Liu, Jing, Mancenido, Zid, Cohen, Julie, Hill, Heather, Jurafsky, Dan, and Hashimoto, Tatsunori
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Computer Science - Computation and Language - Abstract
In conversation, uptake happens when a speaker builds on the contribution of their interlocutor by, for example, acknowledging, repeating or reformulating what they have said. In education, teachers' uptake of student contributions has been linked to higher student achievement. Yet measuring and improving teachers' uptake at scale is challenging, as existing methods require expensive annotation by experts. We propose a framework for computationally measuring uptake, by (1) releasing a dataset of student-teacher exchanges extracted from US math classroom transcripts annotated for uptake by experts; (2) formalizing uptake as pointwise Jensen-Shannon Divergence (pJSD), estimated via next utterance classification; (3) conducting a linguistically-motivated comparison of different unsupervised measures and (4) correlating these measures with educational outcomes. We find that although repetition captures a significant part of uptake, pJSD outperforms repetition-based baselines, as it is capable of identifying a wider range of uptake phenomena like question answering and reformulation. We apply our uptake measure to three different educational datasets with outcome indicators. Unlike baseline measures, pJSD correlates significantly with instruction quality in all three, providing evidence for its generalizability and for its potential to serve as an automated professional development tool for teachers., Comment: ACL 2021
- Published
- 2021
13. The Change We Cannot See: Instructional Quality and Classroom Observation in the Era of Common Core
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Cohen, Julie, Hutt, Ethan, Berlin, Rebekah, and Wiseman, Emily
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The adoption of "College and Career Ready" standards--including Common Core State Standards--aims to raise academic expectations for students nationwide. Meeting these outcomes requires shifts in teaching, which, in turn, requires developing measures for the observation, assessment, and support of new kinds of instruction. This essay focuses on our efforts to develop such measures in a research project conducted in the District of Columbia Public Schools, which raised fundamental questions about whether existing measures can meet this challenge. By emphasizing observable elements of individual lessons, current measures produce a restricted view of instructional quality, omitting crucial elements of instruction called forth by new standards. Having identified this disconnect, we offer suggestions for developing multi-measure systems to capture a fuller picture of standards aligned teaching.
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- 2022
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14. De novo variants in DENND5B cause a neurodevelopmental disorder
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Acosta, Maria T., Adams, David R., Alvarez, Raquel L., Alvey, Justin, Allworth, Aimee, Andrews, Ashley, Ashley, Euan A., Afzali, Ben, Bacino, Carlos A., Bademci, Guney, Balasubramanyam, Ashok, Baldridge, Dustin, Bale, Jim, Bamshad, Michael, Barbouth, Deborah, Bayrak-Toydemir, Pinar, Beck, Anita, Beggs, Alan H., Behrens, Edward, Bejerano, Gill, Bellen, Hugo J., Bennett, Jimmy, Bernstein, Jonathan A., Berry, Gerard T., Bican, Anna, Bivona, Stephanie, Blue, Elizabeth, Bohnsack, John, Bonner, Devon, Botto, Lorenzo, Briere, Lauren C., Brown, Gabrielle, Burke, Elizabeth A., Burrage, Lindsay C., Butte, Manish J., Byers, Peter, Byrd, William E., Carey, John, Carrasquillo, Olveen, Cassini, Thomas, Chang, Ta Chen Peter, Chanprasert, Sirisak, Chao, HsiaoTuan, Chinn, Ivan, Clark, Gary D., Coakley, Terra R., Cobban, Laurel A., Cogan, Joy D., Coggins, Matthew, Cole, F. Sessions, Colley, Heather A., Cope, Heidi, Corona, Rosario, Craigen, William J., Crouse, Andrew B., Cunningham, Michael, D’Souza, Precilla, Dai, Hongzheng, Dasari, Surendra, Davis, Joie, Dayal, Jyoti G., Delgado, Margaret, Dell'Angelica, Esteban C., Dipple, Katrina, Doherty, Daniel, Dorrani, Naghmeh, Doss, Argenia L., Douine, Emilie D., Earl, Dawn, Eckstein, David J., Emrick, Lisa T., Eng, Christine M., Falk, Marni, Fieg, Elizabeth L., Fisher, Paul G., Fogel, Brent L., Forghani, Irman, Fu, Jiayu, Gahl, William A., Glass, Ian, Goddard, Page C., Godfrey, Rena A., Grajewski, Alana, Gropman, Andrea, Halley, Meghan C., Hamid, Rizwan, Hanchard, Neal, Hassey, Kelly, Hayes, Nichole, High, Frances, Hing, Anne, Hisama, Fuki M., Holm, Ingrid A., Hom, Jason, Horike-Pyne, Martha, Huang, Alden, Huang, Yan, Hutchison, Sarah, Introne, Wendy, Isasi, Rosario, Izumi, Kosuke, Jarvik, Gail P., Jarvik, Jeffrey, Jayadev, Suman, Jean-Marie, Orpa, Jobanputra, Vaidehi, Kaitryn, Emerald, Ketkar, Shamika, Kiley, Dana, Kilich, Gonench, Kobren, Shilpa N., Kohane, Isaac S., Kohler, Jennefer N., Korrick, Susan, Krakow, Deborah, Krasnewich, Donna M., Kravets, Elijah, Lalani, Seema R., Lam, Byron, Lam, Christina, Lanpher, Brendan C., Lanza, Ian R., LeBlanc, Kimberly, Lee, Brendan H., Levitt, Roy, Lewis, Richard 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., Maghiro, AudreyStephannie, Mahoney, Rachel, Malicdan, May Christine V., Mamounas, Laura A., Manolio, Teri A., Mao, Rong, Marom, Ronit, Marth, Gabor, Martin, Beth A., Martin, Martin G., Martínez-Agosto, Julian A., Marwaha, Shruti, McCauley, Jacob, McConkie-Rosell, Allyn, McCray, Alexa T., McGee, Elisabeth, Might, Matthew, Miller, Danny, Mirzaa, Ghayda, Morava, Eva, Moretti, Paolo, Morimoto, Marie, Mulvihill, John J., Nakano-Okuno, Mariko, Nelson, Stanley F., Nieves-Rodriguez, Shirley, Novacic, Donna, Oglesbee, Devin, Orengo, James P., Pace, Laura, Pak, Stephen, Pallais, J. Carl, Papp, Jeanette C., Parker, Neil H., Petcharet, Leoyklang, Phillips, John A., III, Posey, Jennifer E., Potocki, Lorraine, Swerdzewski, Barbara N. Pusey, Quinlan, Aaron, Rao, Deepak A., Raper, Anna, Raskind, Wendy, Renteria, Genecee, Reuter, Chloe M., Rives, Lynette, Robertson, Amy K., Rodan, Lance H., Rosenfeld, Jill A., Rosenthal, Elizabeth, Rossignol, Francis, Ruzhnikov, Maura, Sabaii, Marla, Sacco, Ralph, Sampson, Jacinda B., Saporta, Mario, Schaechter, Judy, Schedl, Timothy, Schoch, Kelly, Scott, Daryl A., Seto, Elaine, Sharma, Prashant, Shashi, Vandana, Shelkowitz, Emily, Sheppeard, Sam, Shin, Jimann, Silverman, Edwin K., Sinsheimer, Janet S., Sisco, Kathy, Smith, Edward C., Smith, Kevin S., Solnica-Krezel, Lilianna, Solomon, Ben, Spillmann, Rebecca C., Stergachis, Andrew, Stoler, Joan M., Sullivan, Kathleen, Sullivan, Jennifer A., Sutton, Shirley, Sweetser, David A., Sybert, Virginia, Tabor, Holly K., Tan, Queenie K.-G., Tan, Amelia L.M., Tarakad, Arjun, Taylor, Herman, Tekin, Mustafa, Telischi, Fred, Thorson, Willa, Tifft, Cynthia J., Toro, Camilo, Tran, Alyssa A., Ungar, Rachel A., Urv, Tiina K., Vanderver, Adeline, Velinder, Matt, Viskochil, Dave, Vogel, Tiphanie P., Wahl, Colleen E., Walker, Melissa, Walley, Nicole M., Wambach, Jennifer, Wan, Jijun, Wang, Lee-kai, Wangler, Michael F., Ward, Patricia A., Wegner, Daniel, Weisz Hubshman, Monika, Wener, Mark, Wenger, Tara, Westerfield, Monte, Wheeler, Matthew T., Whitlock, Jordan, Wolfe, Lynne A., Worley, Kim, Yamamoto, Shinya, Zhang, Zhe, Zuchner, Stephan, Scala, Marcello, Tomati, Valeria, Ferla, Matteo, Lena, Mariateresa, Cohen, Julie S., Fatemi, Ali, Brokamp, Elly, Koziura, Mary E., Nicouleau, Michael, Rio, Marlene, Siquier, Karine, Boddaert, Nathalie, Musante, Ilaria, Tamburro, Serena, Baldassari, Simona, Iacomino, Michele, Scudieri, Paolo, Bellus, Gary, Reed, Sara, Al Saif, Hind, Russo, Rossana Sanchez, Walsh, Matthew B., Cantagrel, Vincent, Crunk, Amy, Gustincich, Stefano, Ruggiero, Sarah M., Fitzgerald, Mark P., Helbig, Ingo, Striano, Pasquale, Severino, Mariasavina, Salpietro, Vincenzo, Pedemonte, Nicoletta, and Zara, Federico
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- 2024
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15. Novel variants in KAT6B spectrum of disorders expand our knowledge of clinical manifestations and molecular mechanisms
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Yabumoto, Megan, Kianmahd, Jessica, Singh, Meghna, Palafox, Maria F, Wei, Angela, Elliott, Kathryn, Goodloe, Dana H, Dean, S Joy, Gooch, Catherine, Murray, Brianna K, Swartz, Erin, Vergano, Samantha A Schrier, Towne, Meghan C, Nugent, Kimberly, Roeder, Elizabeth R, Kresge, Christina, Pletcher, Beth A, Grand, Katheryn, Graham, John M, Gates, Ryan, Gomez‐Ospina, Natalia, Ramanathan, Subhadra, Clark, Robin Dawn, Glaser, Kimberly, Benke, Paul J, Cohen, Julie S, Fatemi, Ali, Mu, Weiyi, Baranano, Kristin W, Madden, Jill A, Gubbels, Cynthia S, Yu, Timothy W, Agrawal, Pankaj B, Chambers, Mary‐Kathryn, Phornphutkul, Chanika, Pugh, John A, Tauber, Kate A, Azova, Svetlana, Smith, Jessica R, O’Donnell‐Luria, Anne, Medsker, Hannah, Srivastava, Siddharth, Krakow, Deborah, Schweitzer, Daniela N, and Arboleda, Valerie A
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Biological Sciences ,Genetics ,Brain Disorders ,Congenital Structural Anomalies ,Clinical Research ,Pediatric ,Intellectual and Developmental Disabilities (IDD) ,Rare Diseases ,Genetic Testing ,Aetiology ,2.1 Biological and endogenous factors ,Congenital ,Abnormalities ,Multiple ,Alleles ,Blepharophimosis ,Cohort Studies ,Congenital Hypothyroidism ,Craniofacial Abnormalities ,Facies ,Genetic Association Studies ,Genetic Counseling ,Genetic Loci ,Genetic Predisposition to Disease ,Genotype ,Heart Defects ,Congenital ,Histone Acetyltransferases ,Humans ,Intellectual Disability ,Joint Instability ,Kidney ,Male ,Mutation ,Patella ,Phenotype ,Psychomotor Disorders ,Scrotum ,Urogenital Abnormalities ,CRISPR ,Genitopatellar syndrome ,KAT6B-related disorders ,phenotypic spectrum ,Say-Barber-Biesecker-Young-Simpson syndrome ,variable expressivity ,rare genetic diagnosis ,variable expressivity ,rare genetic diagnosis ,Medicinal and Biomolecular Chemistry ,Clinical Sciences ,Medicinal and biomolecular chemistry - Abstract
The phenotypic variability associated with pathogenic variants in Lysine Acetyltransferase 6B (KAT6B, a.k.a. MORF, MYST4) results in several interrelated syndromes including Say-Barber-Biesecker-Young-Simpson Syndrome and Genitopatellar Syndrome. Here we present 20 new cases representing 10 novel KAT6B variants. These patients exhibit a range of clinical phenotypes including intellectual disability, mobility and language difficulties, craniofacial dysmorphology, and skeletal anomalies. Given the range of features previously described for KAT6B-related syndromes, we have identified additional phenotypes including concern for keratoconus, sensitivity to light or noise, recurring infections, and fractures in greater numbers than previously reported. We surveyed clinicians to qualitatively assess the ways families engage with genetic counselors upon diagnosis. We found that 56% (10/18) of individuals receive diagnoses before the age of 2 years (median age = 1.96 years), making it challenging to address future complications with limited accessible information and vast phenotypic severity. We used CRISPR to introduce truncating variants into the KAT6B gene in model cell lines and performed chromatin accessibility and transcriptome sequencing to identify key dysregulated pathways. This study expands the clinical spectrum and addresses the challenges to management and genetic counseling for patients with KAT6B-related disorders.
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- 2021
16. Expanding the genotypic and phenotypic spectrum in a diverse cohort of 104 individuals with Wiedemann‐Steiner syndrome
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Sheppard, Sarah E, Campbell, Ian M, Harr, Margaret H, Gold, Nina, Li, Dong, Bjornsson, Hans T, Cohen, Julie S, Fahrner, Jill A, Fatemi, Ali, Harris, Jacqueline R, Nowak, Catherine, Stevens, Cathy A, Grand, Katheryn, Au, Margaret, Graham, John M, Sanchez‐Lara, Pedro A, Del Campo, Miguel, Jones, Marilyn C, Abdul‐Rahman, Omar, Alkuraya, Fowzan S, Bassetti, Jennifer A, Bergstrom, Katherine, Bhoj, Elizabeth, Dugan, Sarah, Kaplan, Julie D, Derar, Nada, Gripp, Karen W, Hauser, Natalie, Innes, A Micheil, Keena, Beth, Kodra, Neslida, Miller, Rebecca, Nelson, Beverly, Nowaczyk, Malgorzata J, Rahbeeni, Zuhair, Ben‐Shachar, Shay, Shieh, Joseph T, Slavotinek, Anne, Sobering, Andrew K, Abbott, Mary‐Alice, Allain, Dawn C, Amlie‐Wolf, Louise, Au, Ping Yee Billie, Bedoukian, Emma, Beek, Geoffrey, Barry, James, Berg, Janet, Bernstein, Jonathan A, Cytrynbaum, Cheryl, Chung, Brian Hon‐Yin, Donoghue, Sarah, Dorrani, Naghmeh, Eaton, Alison, Flores‐Daboub, Josue A, Dubbs, Holly, Felix, Carolyn A, Fong, Chin‐To, Fung, Jasmine Lee Fong, Gangaram, Balram, Goldstein, Amy, Greenberg, Rotem, Ha, Thoa K, Hersh, Joseph, Izumi, Kosuke, Kallish, Staci, Kravets, Elijah, Kwok, Pui‐Yan, Jobling, Rebekah K, Johnson, Amy E Knight, Kushner, Jessica, Lee, Bo Hoon, Levin, Brooke, Lindstrom, Kristin, Manickam, Kandamurugu, Mardach, Rebecca, McCormick, Elizabeth, McLeod, D Ross, Mentch, Frank D, Minks, Kelly, Muraresku, Colleen, Nelson, Stanley F, Porazzi, Patrizia, Pichurin, Pavel N, Powell‐Hamilton, Nina N, Powis, Zoe, Ritter, Alyssa, Rogers, Caleb, Rohena, Luis, Ronspies, Carey, Schroeder, Audrey, Stark, Zornitza, Starr, Lois, Stoler, Joan, Suwannarat, Pim, Velinov, Milen, Weksberg, Rosanna, Wilnai, Yael, Zadeh, Neda, Zand, Dina J, and Falk, Marni J
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Congenital Structural Anomalies ,Clinical Research ,Brain Disorders ,Rare Diseases ,Pediatric ,Aetiology ,2.1 Biological and endogenous factors ,Black People ,Constipation ,Failure to Thrive ,Genetic Association Studies ,Genetic Predisposition to Disease ,Growth Disorders ,Histone-Lysine N-Methyltransferase ,Humans ,Hypertrichosis ,Intellectual Disability ,Loss of Function Mutation ,Myeloid-Lymphoid Leukemia Protein ,Retrospective Studies ,White People ,hypertrichosis ,KMT2A ,MLL1 ,syndromic intellectual disability ,syndromic short stature ,Wiedemann‐ ,Steiner syndrome ,Wiedemann-Steiner syndrome ,Genetics ,Clinical Sciences - Abstract
Wiedemann-Steiner syndrome (WSS) is an autosomal dominant disorder caused by monoallelic variants in KMT2A and characterized by intellectual disability and hypertrichosis. We performed a retrospective, multicenter, observational study of 104 individuals with WSS from five continents to characterize the clinical and molecular spectrum of WSS in diverse populations, to identify physical features that may be more prevalent in White versus Black Indigenous People of Color individuals, to delineate genotype-phenotype correlations, to define developmental milestones, to describe the syndrome through adulthood, and to examine clinicians' differential diagnoses. Sixty-nine of the 82 variants (84%) observed in the study were not previously reported in the literature. Common clinical features identified in the cohort included: developmental delay or intellectual disability (97%), constipation (63.8%), failure to thrive (67.7%), feeding difficulties (66.3%), hypertrichosis cubiti (57%), short stature (57.8%), and vertebral anomalies (46.9%). The median ages at walking and first words were 20 months and 18 months, respectively. Hypotonia was associated with loss of function (LoF) variants, and seizures were associated with non-LoF variants. This study identifies genotype-phenotype correlations as well as race-facial feature associations in an ethnically diverse cohort, and accurately defines developmental trajectories, medical comorbidities, and long-term outcomes in individuals with WSS.
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- 2021
17. INTRODUCTION: FRAMING REGULATORY MANAGERIALISM AS AN OBJECT OF STUDY AND STRATEGIC DISPLACEMENT
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Cohen, Julie E. and Waldman, Ari Ezra
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Management ,Law - Abstract
The regulatory state's entanglement with managerial governance is undertheorized and poorly understood, with consequences that are increasingly dire. A quarter century ago, scholars of administrative law and regulatory theory identified [...]
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- 2023
18. A Qualitative Investigation of the Factors That Enhance, Impede, and Require Attention for the School Success and Engagement of At-Risk Newcomer Students
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Elia, Julien, Cohen, Julie, Kassan, Anusha, Ngo, Hieu, Stevens, Kelli, and Marulanda, David
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Little is known about best practices to support newcomer students with a history of emotional, behavioral, or learning challenges in their pursuit of school success and engagement. The Enhanced Critical Incident Technique was employed to explore the helping, hindering, and desired practices among nine teachers who have successfully supported at-risk newcomer youth in their educational pursuits in Canada. Results revealed 64 helping and 43 hindering factors as well as 27 wish list items related to participants' experiences of supporting newcomer students in their school success and engagement. Recommendations are made at three levels: individual, curricula, and systemic.
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- 2022
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19. Measuring Teaching Practices at Scale: A Novel Application of Text-as-Data Methods
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Liu, Jing and Cohen, Julie
- Abstract
Valid and reliable measurements of teaching quality facilitate school-level decision-making and policies pertaining to teachers. Using nearly 1,000 word-to-word transcriptions of fourth- and fifth-grade English language arts classes, we apply novel text-as-data methods to develop automated measures of teaching to complement classroom observations traditionally done by human raters. This approach is free of rater bias and enables the detection of three instructional factors that are well aligned with commonly used observation protocols: classroom management, interactive instruction, and teacher-centered instruction. The teacher-centered instruction factor is a consistent negative predictor of value-added scores, even after controlling for teachers' average classroom observation scores. The interactive instruction factor predicts positive value-added scores. Our results suggest that the text-as-data approach has the potential to enhance existing classroom observation systems through collecting far more data on teaching with a lower cost, higher speed, and the detection of multifaceted classroom practices.
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- 2021
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20. Does Teaching Quality Cross Subjects? Exploring Consistency in Elementary Teacher Practice across Subjects
- Author
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Cohen, Julie, Ruzek, Erik, and Sandilos, Lia
- Abstract
Teacher evaluation systems treat instructional quality as generic. Principals often observe elementary teachers in one subject and generalize assessments to all subjects. However, there is little empirical work to justify these decisions. This study provides needed evidence about whether elementary teachers engage in comparable instruction across the school day. We draw on data from the Measures of Effective Teaching (MET) project, including student survey and classroom observational data from more than 500 elementary teachers. Findings indicate that there is moderate within-teacher, cross-subject consistency on the Tripod and Classroom Observation Scoring System (CLASS). Cross-subject correlations are higher on the Tripod scales (r values from 0.55 to 0.73) than the CLASS dimensions and domains (r values from 0.25 to 0.55). These findings suggest that teaching quality is not a uniform construct across subjects, even though current teaching evaluation systems largely treat it as such. Implications for elementary teacher preparation, professional development, and evaluation are discussed.
- Published
- 2018
21. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism
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Sacoto, Maria J Guillen, Tchasovnikarova, Iva A, Torti, Erin, Forster, Cara, Andrew, E Hallie, Anselm, Irina, Baranano, Kristin W, Briere, Lauren C, Cohen, Julie S, Craigen, William J, Cytrynbaum, Cheryl, Ekhilevitch, Nina, Elrick, Matthew J, Fatemi, Ali, Fraser, Jamie L, Gallagher, Renata C, Guerin, Andrea, Haynes, Devon, High, Frances A, Inglese, Cara N, Kiss, Courtney, Koenig, Mary Kay, Krier, Joel, Lindstrom, Kristin, Marble, Michael, Meddaugh, Hannah, Moran, Ellen S, Morel, Chantal F, Mu, Weiyi, Muller, Eric A, Nance, Jessica, Natowicz, Marvin R, Numis, Adam L, Ostrem, Bridget, Pappas, John, Stafstrom, Carl E, Streff, Haley, Sweetser, David A, Szybowska, Marta, Network, Undiagnosed Diseases, Walker, Melissa A, Wang, Wei, Weiss, Karin, Weksberg, Rosanna, Wheeler, Patricia G, Yoon, Grace, Kingston, Robert E, and Juusola, Jane
- Subjects
Neurodegenerative ,Rare Diseases ,Pediatric ,Genetics ,Brain Disorders ,Intellectual and Developmental Disabilities (IDD) ,Neurosciences ,Congenital Structural Anomalies ,Clinical Research ,Dental/Oral and Craniofacial Disease ,Aetiology ,2.1 Biological and endogenous factors ,Neurological ,Adenosine Triphosphatases ,Adolescent ,Adult ,Child ,Child ,Preschool ,Craniofacial Abnormalities ,Female ,Genetic Diseases ,Inborn ,Growth Disorders ,Heterozygote ,Humans ,Infant ,Intellectual Disability ,Male ,Microcephaly ,Middle Aged ,Mutation ,Neurodevelopmental Disorders ,Phenotype ,Transcription Factors ,Young Adult ,Undiagnosed Diseases Network ,CMT2Z ,Leigh-like disease ,MORC2 ,developmental delay ,intellectual disability ,microcephaly ,Biological Sciences ,Medical and Health Sciences ,Genetics & Heredity - Abstract
MORC2 encodes an ATPase that plays a role in chromatin remodeling, DNA repair, and transcriptional regulation. Heterozygous variants in MORC2 have been reported in individuals with autosomal-dominant Charcot-Marie-Tooth disease type 2Z and spinal muscular atrophy, and the onset of symptoms ranges from infancy to the second decade of life. Here, we present a cohort of 20 individuals referred for exome sequencing who harbor pathogenic variants in the ATPase module of MORC2. Individuals presented with a similar phenotype consisting of developmental delay, intellectual disability, growth retardation, microcephaly, and variable craniofacial dysmorphism. Weakness, hyporeflexia, and electrophysiologic abnormalities suggestive of neuropathy were frequently observed but were not the predominant feature. Five of 18 individuals for whom brain imaging was available had lesions reminiscent of those observed in Leigh syndrome, and five of six individuals who had dilated eye exams had retinal pigmentary abnormalities. Functional assays revealed that these MORC2 variants result in hyperactivation of epigenetic silencing by the HUSH complex, supporting their pathogenicity. The described set of morphological, growth, developmental, and neurological findings and medical concerns expands the spectrum of genetic disorders resulting from pathogenic variants in MORC2.
- Published
- 2020
22. How Elementary Teaching Candidates' Learning Opportunities Are Associated with Their Knowledge, Self-Efficacy, and Beliefs
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Berlin, Rebekah, Youngs, Peter, and Cohen, Julie
- Abstract
Background/Context: Many elementary teacher education programs seek to prepare candidates to enact ambitious mathematics instruction that supports students in engaging in rigorous, conceptually rich mathematics tasks. Extant literature suggests that preparedness to engage in ambitious elementary mathematics instruction is multifaceted and includes teaching candidates' mathematical knowledge for teaching (MKT), self-efficacy with regard to teaching mathematics, and pedagogical beliefs about mathematics. Prior research has produced findings that provide discrete, and at times conflicting, information about teacher preparation. Purpose/Objective/Research Question/Focus of Study: This study examined how elementary candidates' learning opportunities in mathematics content courses, mathematics methods courses, and student teaching were moderated by their reports about the quality of their experiences in courses and field placements to seem to affect their MKT, self-efficacy, and beliefs. Population/Participants/Subjects: The study participants were 220 elementary teaching candidates who were in their final year of teacher preparation at four universities in three states. Research Design: We employed multivariate path analysis, an approach that is purposefully designed to probe heterogeneity in teaching candidates' experiences in courses and clinical placements. Data Collection and Analysis: We administered two surveys to each study participant: an elementary teaching candidate survey, which included measures of mathematics teaching self-efficacy and pedagogical beliefs about mathematics, and an MKT survey. Findings/Results: The number of mathematics content courses that elementary candidates took was positively associated with their MKT and mathematics teaching self-efficacy only when they also reported having positive experiences learning mathematics. When candidates reported increased opportunities to engage with representations, decompositions, and approximations of mathematics teaching practices in mathematics methods courses, this was associated with higher MKT scores and pedagogical beliefs about mathematics. When candidates reported that their cooperating teacher was a high-quality mentor, increased opportunities to observe, attempt, and receive feedback on mathematics teaching practices during their field experience were associated with mathematics teaching self-efficacy and pedagogical beliefs about mathematics. Conclusions/Recommendations: The findings from this multivariate path analysis, which account for both the reported quantity and the perceived quality of elementary teaching candidate experiences, may shed light on conflicting findings in prior literature. There is little agreement in extant literature about associations between facets of teacher preparation and candidate knowledge, self-efficacy, or beliefs. Explaining the positive associations in some samples and lack of associations in others may have more to do with the quality of teaching candidate experiences than with whether a candidate was exposed to a particular opportunity to learn.
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- 2021
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23. De Novo Variants in WDR37 Are Associated with Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia.
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Kanca, Oguz, Andrews, Jonathan C, Lee, Pei-Tseng, Patel, Chirag, Braddock, Stephen R, Slavotinek, Anne M, Cohen, Julie S, Gubbels, Cynthia S, Aldinger, Kimberly A, Williams, Judy, Indaram, Maanasa, Fatemi, Ali, Yu, Timothy W, Agrawal, Pankaj B, Vezina, Gilbert, Simons, Cas, Crawford, Joanna, Lau, C Christopher, Undiagnosed Diseases Network, Chung, Wendy K, Markello, Thomas C, Dobyns, William B, Adams, David R, Gahl, William A, Wangler, Michael F, Yamamoto, Shinya, Bellen, Hugo J, and Malicdan, May Christine V
- Subjects
Undiagnosed Diseases Network ,Cerebellum ,Animals ,Humans ,Drosophila melanogaster ,Epilepsy ,Nervous System Malformations ,Coloboma ,Microfilament Proteins ,Developmental Disabilities ,Amino Acid Sequence ,Sequence Homology ,Phenotype ,Mutation ,Adult ,Child ,Infant ,Infant ,Newborn ,Female ,Male ,Young Adult ,Body Dysmorphic Disorders ,Intellectual Disability ,WD40 Repeats ,CG12333 ,Drosophila ,WD40 repeats ,WDR37 domains ,bang sensitivity ,wdr37 ,Genetics ,Pediatric ,Rare Diseases ,Congenital Structural Anomalies ,Neurodegenerative ,Neurosciences ,Brain Disorders ,Intellectual and Developmental Disabilities (IDD) ,Aetiology ,2.1 Biological and endogenous factors ,Neurological ,Biological Sciences ,Medical and Health Sciences ,Genetics & Heredity - Abstract
WD40 repeat-containing proteins form a large family of proteins present in all eukaryotes. Here, we identified five pediatric probands with de novo variants in WDR37, which encodes a member of the WD40 repeat protein family. Two probands shared one variant and the others have variants in nearby amino acids outside the WD40 repeats. The probands exhibited shared phenotypes of epilepsy, colobomas, facial dysmorphology reminiscent of CHARGE syndrome, developmental delay and intellectual disability, and cerebellar hypoplasia. The WDR37 protein is highly conserved in vertebrate and invertebrate model organisms and is currently not associated with a human disease. We generated a null allele of the single Drosophila ortholog to gain functional insights and replaced the coding region of the fly gene CG12333/wdr37 with GAL4. These flies are homozygous viable but display severe bang sensitivity, a phenotype associated with seizures in flies. Additionally, the mutant flies fall when climbing the walls of the vials, suggesting a defect in grip strength, and repeat the cycle of climbing and falling. Similar to wall clinging defect, mutant males often lose grip of the female abdomen during copulation. These phenotypes are rescued by using the GAL4 in the CG12333/wdr37 locus to drive the UAS-human reference WDR37 cDNA. The two variants found in three human subjects failed to rescue these phenotypes, suggesting that these alleles severely affect the function of this protein. Taken together, our data suggest that variants in WDR37 underlie a novel syndromic neurological disorder.
- Published
- 2019
24. SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals
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Ng, Bobby G, Sosicka, Paulina, Agadi, Satish, Almannai, Mohammed, Bacino, Carlos A, Barone, Rita, Botto, Lorenzo D, Burton, Jennifer E, Carlston, Colleen, Chung, Brian Hon‐Yin, Cohen, Julie S, Coman, David, Dipple, Katrina M, Dorrani, Naghmeh, Dobyns, William B, Elias, Abdallah F, Epstein, Leon, Gahl, William A, Garozzo, Domenico, Hammer, Trine Bjørg, Haven, Jaclyn, Héron, Delphine, Herzog, Matthew, Hoganson, George E, Hunter, Jesse M, Jain, Mahim, Juusola, Jane, Lakhani, Shenela, Lee, Hane, Lee, Joy, Lewis, Katherine, Longo, Nicola, Lourenço, Charles Marques, Mak, Christopher CY, McKnight, Dianalee, Mendelsohn, Bryce A, Mignot, Cyril, Mirzaa, Ghayda, Mitchell, Wendy, Muhle, Hiltrud, Nelson, Stanley F, Olczak, Mariusz, Palmer, Christina GS, Partikian, Arthur, Patterson, Marc C, Pierson, Tyler M, Quinonez, Shane C, Regan, Brigid M, Ross, M Elizabeth, Sacoto, Maria J Guillen, Scaglia, Fernando, Scheffer, Ingrid E, Segal, Devorah, Singhal, Nilika Shah, Striano, Pasquale, Sturiale, Luisa, Symonds, Joseph D, Tang, Sha, Vilain, Eric, Willis, Mary, Wolfe, Lynne A, Yang, Hui, Yano, Shoji, Powis, Zöe, Suchy, Sharon F, Rosenfeld, Jill A, Edmondson, Andrew C, Grunewald, Stephanie, and Freeze, Hudson H
- Subjects
Clinical Research ,Pediatric ,Genetics ,Aetiology ,2.1 Biological and endogenous factors ,Animals ,Biopsy ,CHO Cells ,Cells ,Cultured ,Congenital Disorders of Glycosylation ,Cricetulus ,Female ,Humans ,Male ,Monosaccharide Transport Proteins ,Mutation ,Uridine Diphosphate Galactose ,congenital disorders of glycosylation ,glycoside ,nucleotide sugar transporter ,UDP-galactose ,Clinical Sciences ,Genetics & Heredity - Abstract
Pathogenic de novo variants in the X-linked gene SLC35A2 encoding the major Golgi-localized UDP-galactose transporter required for proper protein and lipid glycosylation cause a rare type of congenital disorder of glycosylation known as SLC35A2-congenital disorders of glycosylation (CDG; formerly CDG-IIm). To date, 29 unique de novo variants from 32 unrelated individuals have been described in the literature. The majority of affected individuals are primarily characterized by varying degrees of neurological impairments with or without skeletal abnormalities. Surprisingly, most affected individuals do not show abnormalities in serum transferrin N-glycosylation, a common biomarker for most types of CDG. Here we present data characterizing 30 individuals and add 26 new variants, the single largest study involving SLC35A2-CDG. The great majority of these individuals had normal transferrin glycosylation. In addition, expanding the molecular and clinical spectrum of this rare disorder, we developed a robust and reliable biochemical assay to assess SLC35A2-dependent UDP-galactose transport activity in primary fibroblasts. Finally, we show that transport activity is directly correlated to the ratio of wild-type to mutant alleles in fibroblasts from affected individuals.
- Published
- 2019
25. Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability.
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Cogné, Benjamin, Ehresmann, Sophie, Beauregard-Lacroix, Eliane, Rousseau, Justine, Besnard, Thomas, Garcia, Thomas, Petrovski, Slavé, Avni, Shiri, McWalter, Kirsty, Blackburn, Patrick R, Sanders, Stephan J, Uguen, Kévin, Harris, Jacqueline, Cohen, Julie S, Blyth, Moira, Lehman, Anna, Berg, Jonathan, Li, Mindy H, Kini, Usha, Joss, Shelagh, von der Lippe, Charlotte, Gordon, Christopher T, Humberson, Jennifer B, Robak, Laurie, Scott, Daryl A, Sutton, Vernon R, Skraban, Cara M, Johnston, Jennifer J, Poduri, Annapurna, Nordenskjöld, Magnus, Shashi, Vandana, Gerkes, Erica H, Bongers, Ernie MHF, Gilissen, Christian, Zarate, Yuri A, Kvarnung, Malin, Lally, Kevin P, Kulch, Peggy A, Daniels, Brina, Hernandez-Garcia, Andres, Stong, Nicholas, McGaughran, Julie, Retterer, Kyle, Tveten, Kristian, Sullivan, Jennifer, Geisheker, Madeleine R, Stray-Pedersen, Asbjorg, Tarpinian, Jennifer M, Klee, Eric W, Sapp, Julie C, Zyskind, Jacob, Holla, Øystein L, Bedoukian, Emma, Filippini, Francesca, Guimier, Anne, Picard, Arnaud, Busk, Øyvind L, Punetha, Jaya, Pfundt, Rolph, Lindstrand, Anna, Nordgren, Ann, Kalb, Fayth, Desai, Megha, Ebanks, Ashley Harmon, Jhangiani, Shalini N, Dewan, Tammie, Coban Akdemir, Zeynep H, Telegrafi, Aida, Zackai, Elaine H, Begtrup, Amber, Song, Xiaofei, Toutain, Annick, Wentzensen, Ingrid M, Odent, Sylvie, Bonneau, Dominique, Latypova, Xénia, Deb, Wallid, CAUSES Study, Redon, Sylvia, Bilan, Frédéric, Legendre, Marine, Troyer, Caitlin, Whitlock, Kerri, Caluseriu, Oana, Murphree, Marine I, Pichurin, Pavel N, Agre, Katherine, Gavrilova, Ralitza, Rinne, Tuula, Park, Meredith, Shain, Catherine, Heinzen, Erin L, Xiao, Rui, Amiel, Jeanne, Lyonnet, Stanislas, Isidor, Bertrand, Biesecker, Leslie G, Lowenstein, Dan, Posey, Jennifer E, and Denommé-Pichon, Anne-Sophie
- Subjects
CAUSES Study ,Deciphering Developmental Disorders study ,Humans ,Syndrome ,Adaptor Proteins ,Signal Transducing ,Nuclear Proteins ,Prognosis ,Autistic Disorder ,Amino Acid Sequence ,Sequence Homology ,Mutation ,Missense ,Adolescent ,Adult ,Child ,Child ,Preschool ,Infant ,Female ,Male ,Young Adult ,Genetic Association Studies ,Intellectual Disability ,TRRAP ,autism spectrum disorder ,congenital malformations ,de novo variants ,histone acetylation ,intellectual disability ,neurodevelopmental disorders ,Intellectual and Developmental Disabilities (IDD) ,Pediatric ,Genetics ,Brain Disorders ,Neurosciences ,Mental Health ,Autism ,Rare Diseases ,2.1 Biological and endogenous factors ,Aetiology ,Mental health ,Biological Sciences ,Medical and Health Sciences ,Genetics & Heredity - Abstract
Acetylation of the lysine residues in histones and other DNA-binding proteins plays a major role in regulation of eukaryotic gene expression. This process is controlled by histone acetyltransferases (HATs/KATs) found in multiprotein complexes that are recruited to chromatin by the scaffolding subunit transformation/transcription domain-associated protein (TRRAP). TRRAP is evolutionarily conserved and is among the top five genes intolerant to missense variation. Through an international collaboration, 17 distinct de novo or apparently de novo variants were identified in TRRAP in 24 individuals. A strong genotype-phenotype correlation was observed with two distinct clinical spectra. The first is a complex, multi-systemic syndrome associated with various malformations of the brain, heart, kidneys, and genitourinary system and characterized by a wide range of intellectual functioning; a number of affected individuals have intellectual disability (ID) and markedly impaired basic life functions. Individuals with this phenotype had missense variants clustering around the c.3127G>A p.(Ala1043Thr) variant identified in five individuals. The second spectrum manifested with autism spectrum disorder (ASD) and/or ID and epilepsy. Facial dysmorphism was seen in both groups and included upslanted palpebral fissures, epicanthus, telecanthus, a wide nasal bridge and ridge, a broad and smooth philtrum, and a thin upper lip. RNA sequencing analysis of skin fibroblasts derived from affected individuals skin fibroblasts showed significant changes in the expression of several genes implicated in neuronal function and ion transport. Thus, we describe here the clinical spectrum associated with TRRAP pathogenic missense variants, and we suggest a genotype-phenotype correlation useful for clinical evaluation of the pathogenicity of the variants.
- Published
- 2019
26. De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy
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Wojcik, Monica H, Okada, Kyoko, Prabhu, Sanjay P, Nowakowski, Dan W, Ramsey, Keri, Balak, Chris, Rangasamy, Sampath, Brownstein, Catherine A, Schmitz‐Abe, Klaus, Cohen, Julie S, Fatemi, Ali, Shi, Jiahai, Grant, Ellen P, Narayanan, Vinodh, Ho, Hsin‐Yi Henry, and Agrawal, Pankaj B
- Subjects
Biochemistry and Cell Biology ,Bioinformatics and Computational Biology ,Biological Sciences ,Brain Disorders ,Neurosciences ,Genetics ,Pediatric ,Clinical Research ,Rare Diseases ,2.1 Biological and endogenous factors ,Aetiology ,Neurological ,Amino Acid Sequence ,Animals ,Brain ,Cell Adhesion ,Disease Models ,Animal ,Gene Expression ,Humans ,Kinesins ,Magnetic Resonance Imaging ,Mice ,Models ,Molecular ,Olivopontocerebellar Atrophies ,Protein Conformation ,Spinal Muscular Atrophies of Childhood ,Exome Sequencing ,arthrogryposis ,KIF26B ,kinesin ,microcephaly ,pontocerebellar hypoplasia ,Clinical Sciences ,Clinical sciences - Abstract
KIF26B is a member of the kinesin superfamily with evolutionarily conserved functions in controlling aspects of embryogenesis, including the development of the nervous system, though its function is incompletely understood. We describe an infant with progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis secondary to the involvement of anterior horn cells and ventral (motor) nerves. We performed whole exome sequencing on the trio and identified a de novo KIF26B missense variant, p.Gly546Ser, in the proband. This variant alters a highly conserved amino acid residue that is part of the phosphate-binding loop motif and motor-like domain and is deemed pathogenic by several in silico methods. Functional analysis of the variant protein in cultured cells revealed a reduction in the KIF26B protein's ability to promote cell adhesion, a defect that potentially contributes to its pathogenicity. Overall, KIF26B may play a critical role in the brain development and, when mutated, cause pontocerebellar hypoplasia with arthrogryposis.
- Published
- 2018
27. Integrating DC:0-5 into State Policy and Systems: 5 Years of Progress
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Cohen, Julie and Andujar, Paola
- Abstract
States need a policy and systems infrastructure that creates a robust continuum of mental health supports and services for infants, young children, and families. One critical element of this continuum is developmentally appropriate diagnosis. "DC:0-5[TM]: Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood" (DC:0-5) is a system for classification of mental health and developmental disorders of infants and young children and is the recommended practice for the clinical conceptualization and diagnosis of children (birth through 5 years old). Over the past 5 years, states have pursued a variety of strategies to integrate DC:0-5 in state policy and systems.
- Published
- 2021
28. The development of ambitious instruction: How beginning elementary teachers’ preparation experiences are associated with their mathematics and English language arts instructional practices
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Youngs, Peter, Elreda, Lauren Molloy, Anagnostopoulos, Dorothea, Cohen, Julie, Drake, Corey, and Konstantopoulos, Spyros
- Published
- 2022
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29. Measuring Text-Focused Reading Instruction.
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Cohen, Julie, Miller, Luke C., Chung, Rosalie, Wiseman, Emily, and Ruzek, Erik
- Abstract
Helping students engage with complex texts has been a longstanding challenge, though teachers have received little guidance about practices that help students in engaging with texts. This paper provides a range of empirical evidence about a tool designed to provide formative insight into text-focused teaching, which we used to reliably score more than 500 reading lessons in a large district. We describe the structure of the tool, its relationship to other measures of teaching, teacher and school attributes, and student outcomes. We then provide guidance to practitioners and researchers seeking to employ such a tool for teacher development. [ABSTRACT FROM AUTHOR]
- Published
- 2024
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30. Developing data literacy: Investigating the effects of a pre-service data use intervention
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Miller-Bains, Katherine L., Cohen, Julie, and Wong, Vivian C.
- Published
- 2022
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31. Teacher Coaching in a Simulated Environment
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Cohen, Julie, Wong, Vivian, Krishnamachari, Anandita, and Berlin, Rebekah
- Abstract
This article evaluates whether providing coaching between practice sessions in teacher education courses leads to more rapid development of skills and changes in teachers' beliefs about student behavior, using mixed-reality simulations as a practice space and standardized assessment platform. We randomly assigned 105 prospective teachers to different coaching conditions between simulation sessions integrated into a teacher preparation program. Coached candidates had significant and large improvements on skills relative to those who only reflected on their teaching. We also observe significant coaching effects on candidates' perceptions of student behavior and ideas about next steps for addressing perceived behavioral issues. Findings suggest that skills with which novices struggle can improve with coaching and do not have to be learned "on the job."
- Published
- 2020
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32. Advancing Infant and Early Childhood Mental Health Policy in States: Stories from the Field, Part Two
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Cohen, Julie and Stark, Deborah Roderick
- Abstract
This article describes some of the extraordinary accomplishments of the second cohort of states to participate in the Infant and Early Childhood Mental Health Financing Policy Project (IECMH-FPP). The purpose of the IECMHFPP is to support states' advancement of IECMH assessment, diagnosis, and treatment policies that will contribute to the healthy development of young children. The policy stories are meant to inspire and offer lessons learned for other states interested in advancing IECMH policy. And they demonstrate that state leaders working across early childhood systems can drive meaningful change. [For the first part, see EJ1244138.]
- Published
- 2020
33. Sense Making and Professional Identity in the Implementation of edTPA
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Cohen, Julie, Hutt, Ethan, Berlin, Rebekah L., Mathews, Hannah M., McGraw, Jillian P., and Gottlieb, Jessica
- Abstract
edTPA is designed to strengthen teacher professionalization and provide a framework for program redesign. However, using a national assessment to shift the content of local programs is challenging because of their inherent organizational complexity. In this article, we focus on this complexity, using a systems lens to analyze edTPA implementation at a large, public university. Employing a mixed-methods case study design, we survey 250 teacher educators and candidates to understand how they interpret the demands of edTPA and how their varied perspectives impact each other. We interview a stratified, purposive subset of participants to explore mechanisms underlying quantitative findings. We find substantial internal variation in edTPA implementation that translates into differential support for candidates. This variation could not be explained by duration of implementation of edTPA. Varied perspectives may stem from distinct perceptions of teacher educators' professional roles and the role they see edTPA playing in teacher professionalization.
- Published
- 2020
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34. What Constitutes an 'Opportunity to Learn' in Teacher Preparation?
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Cohen, Julie and Berlin, Rebekah
- Abstract
Teacher education research is in still in the process of developing a robust set of tools that can measure the key features of coursework and fieldwork. This article focuses on the design of measures of "opportunities to learn" (OTLs) in content method courses that can be used across large populations of candidates at diverse preparation programs. We draw on the survey and interview data from a broader, longitudinal study of teacher preparation across four programs in the United States (n = 455 candidates). Variance decomposition suggests far greater within-program variation than between-program variation in reported OTL. More nuanced analyses at a single university indicate significant associations between individual characteristics and reports of OTL, suggesting that self-reports of OTL may tell us more about the candidates who complete a survey than the programs that prepare them. Discussion focuses on implications for teacher education research and next steps for studying OTL in methods coursework.
- Published
- 2020
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35. Advancing Infant and Early Childhood Mental Health Policy in States: Stories from the Field
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Cohen, Julie, Stark, Deborah Roderick, and Colvard, Jamie
- Abstract
This article describes some of the remarkable accomplishments of the states that have participated in the Infant and Early Childhood Mental Health Financing Policy Project (IECMH-FPP). The purpose of the IECMH-FPP is to support states' advancement of IECMH assessment, diagnosis, and treatment policies that will contribute to the healthy development of young children. The policy stories are meant to inspire and offer lessons learned for other states interested in advancing IECMH policy. These stories demonstrate that, despite funding constraints and the challenging political landscape, there are always opportunities to take action to increase access to high-quality mental health services for pregnant women, young children, and families.
- Published
- 2019
36. Excerpt from Privacy, Visibility, Transparency, and Exposure *
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Cohen, Julie E., primary
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- 2022
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37. De novo variants in DENND5B cause a neurodevelopmental disorder
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Scala, Marcello, primary, Tomati, Valeria, additional, Ferla, Matteo, additional, Lena, Mariateresa, additional, Cohen, Julie S., additional, Fatemi, Ali, additional, Brokamp, Elly, additional, Bican, Anna, additional, Phillips, John A., additional, Koziura, Mary E., additional, Nicouleau, Michael, additional, Rio, Marlene, additional, Siquier, Karine, additional, Boddaert, Nathalie, additional, Musante, Ilaria, additional, Tamburro, Serena, additional, Baldassari, Simona, additional, Iacomino, Michele, additional, Scudieri, Paolo, additional, Rosenfeld, Jill A., additional, Bellus, Gary, additional, Reed, Sara, additional, Al Saif, Hind, additional, Russo, Rossana Sanchez, additional, Walsh, Matthew B., additional, Cantagrel, Vincent, additional, Crunk, Amy, additional, Gustincich, Stefano, additional, Ruggiero, Sarah M., additional, Fitzgerald, Mark P., additional, Helbig, Ingo, additional, Striano, Pasquale, additional, Severino, Mariasavina, additional, Salpietro, Vincenzo, additional, Pedemonte, Nicoletta, additional, Zara, Federico, additional, Acosta, Maria T., additional, Adams, David R., additional, Alvarez, Raquel L., additional, Alvey, Justin, additional, Allworth, Aimee, additional, Andrews, Ashley, additional, Ashley, Euan A., additional, Afzali, Ben, additional, Bacino, Carlos A., additional, Bademci, Guney, additional, Balasubramanyam, Ashok, additional, Baldridge, Dustin, additional, Bale, Jim, additional, Bamshad, Michael, additional, Barbouth, Deborah, additional, Bayrak-Toydemir, Pinar, additional, Beck, Anita, additional, Beggs, Alan H., additional, Behrens, Edward, additional, Bejerano, Gill, additional, Bellen, Hugo J., additional, Bennett, Jimmy, additional, Bernstein, Jonathan A., additional, Berry, Gerard T., additional, Bivona, Stephanie, additional, Blue, Elizabeth, additional, Bohnsack, John, additional, Bonner, Devon, additional, Botto, Lorenzo, additional, Briere, Lauren C., additional, Brown, Gabrielle, additional, Burke, Elizabeth A., additional, Burrage, Lindsay C., additional, Butte, Manish J., additional, Byers, Peter, additional, Byrd, William E., additional, Carey, John, additional, Carrasquillo, Olveen, additional, Cassini, Thomas, additional, Chang, Ta Chen Peter, additional, Chanprasert, Sirisak, additional, Chao, HsiaoTuan, additional, Chinn, Ivan, additional, Clark, Gary D., additional, Coakley, Terra R., additional, Cobban, Laurel A., additional, Cogan, Joy D., additional, Coggins, Matthew, additional, Cole, F. Sessions, additional, Colley, Heather A., additional, Cope, Heidi, additional, Corona, Rosario, additional, Craigen, William J., additional, Crouse, Andrew B., additional, Cunningham, Michael, additional, D’Souza, Precilla, additional, Dai, Hongzheng, additional, Dasari, Surendra, additional, Davis, Joie, additional, Dayal, Jyoti G., additional, Delgado, Margaret, additional, Dell'Angelica, Esteban C., additional, Dipple, Katrina, additional, Doherty, Daniel, additional, Dorrani, Naghmeh, additional, Doss, Argenia L., additional, Douine, Emilie D., additional, Earl, Dawn, additional, Eckstein, David J., additional, Emrick, Lisa T., additional, Eng, Christine M., additional, Falk, Marni, additional, Fieg, Elizabeth L., additional, Fisher, Paul G., additional, Fogel, Brent L., additional, Forghani, Irman, additional, Fu, Jiayu, additional, Gahl, William A., additional, Glass, Ian, additional, Goddard, Page C., additional, Godfrey, Rena A., additional, Grajewski, Alana, additional, Gropman, Andrea, additional, Halley, Meghan C., additional, Hamid, Rizwan, additional, Hanchard, Neal, additional, Hassey, Kelly, additional, Hayes, Nichole, additional, High, Frances, additional, Hing, Anne, additional, Hisama, Fuki M., additional, Holm, Ingrid A., additional, Hom, Jason, additional, Horike-Pyne, Martha, additional, Huang, Alden, additional, Huang, Yan, additional, Hutchison, Sarah, additional, Introne, Wendy, additional, Isasi, Rosario, additional, Izumi, Kosuke, additional, Jarvik, Gail P., additional, Jarvik, Jeffrey, additional, Jayadev, Suman, additional, Jean-Marie, Orpa, additional, Jobanputra, Vaidehi, additional, Kaitryn, Emerald, additional, Ketkar, Shamika, additional, Kiley, Dana, additional, Kilich, Gonench, additional, Kobren, Shilpa N., additional, Kohane, Isaac S., additional, Kohler, Jennefer N., additional, Korrick, Susan, additional, Krakow, Deborah, additional, Krasnewich, Donna M., additional, Kravets, Elijah, additional, Lalani, Seema R., additional, Lam, Byron, additional, Lam, Christina, additional, Lanpher, Brendan C., additional, Lanza, Ian R., additional, LeBlanc, Kimberly, additional, Lee, Brendan H., additional, Levitt, Roy, additional, Lewis, Richard A., additional, Liu, Pengfei, additional, Liu, Xue Zhong, additional, Longo, Nicola, additional, Loo, Sandra K., additional, Loscalzo, Joseph, additional, Maas, Richard L., additional, Macnamara, Ellen F., additional, MacRae, Calum A., additional, Maduro, Valerie V., additional, Maghiro, AudreyStephannie, additional, Mahoney, Rachel, additional, Malicdan, May Christine V., additional, Mamounas, Laura A., additional, Manolio, Teri A., additional, Mao, Rong, additional, Marom, Ronit, additional, Marth, Gabor, additional, Martin, Beth A., additional, Martin, Martin G., additional, Martínez-Agosto, Julian A., additional, Marwaha, Shruti, additional, McCauley, Jacob, additional, McConkie-Rosell, Allyn, additional, McCray, Alexa T., additional, McGee, Elisabeth, additional, Might, Matthew, additional, Miller, Danny, additional, Mirzaa, Ghayda, additional, Morava, Eva, additional, Moretti, Paolo, additional, Morimoto, Marie, additional, Mulvihill, John J., additional, Nakano-Okuno, Mariko, additional, Nelson, Stanley F., additional, Nieves-Rodriguez, Shirley, additional, Novacic, Donna, additional, Oglesbee, Devin, additional, Orengo, James P., additional, Pace, Laura, additional, Pak, Stephen, additional, Pallais, J. Carl, additional, Papp, Jeanette C., additional, Parker, Neil H., additional, Petcharet, Leoyklang, additional, Posey, Jennifer E., additional, Potocki, Lorraine, additional, Swerdzewski, Barbara N. Pusey, additional, Quinlan, Aaron, additional, Rao, Deepak A., additional, Raper, Anna, additional, Raskind, Wendy, additional, Renteria, Genecee, additional, Reuter, Chloe M., additional, Rives, Lynette, additional, Robertson, Amy K., additional, Rodan, Lance H., additional, Rosenthal, Elizabeth, additional, Rossignol, Francis, additional, Ruzhnikov, Maura, additional, Sabaii, Marla, additional, Sacco, Ralph, additional, Sampson, Jacinda B., additional, Saporta, Mario, additional, Schaechter, Judy, additional, Schedl, Timothy, additional, Schoch, Kelly, additional, Scott, Daryl A., additional, Seto, Elaine, additional, Sharma, Prashant, additional, Shashi, Vandana, additional, Shelkowitz, Emily, additional, Sheppeard, Sam, additional, Shin, Jimann, additional, Silverman, Edwin K., additional, Sinsheimer, Janet S., additional, Sisco, Kathy, additional, Smith, Edward C., additional, Smith, Kevin S., additional, Solnica-Krezel, Lilianna, additional, Solomon, Ben, additional, Spillmann, Rebecca C., additional, Stergachis, Andrew, additional, Stoler, Joan M., additional, Sullivan, Kathleen, additional, Sullivan, Jennifer A., additional, Sutton, Shirley, additional, Sweetser, David A., additional, Sybert, Virginia, additional, Tabor, Holly K., additional, Tan, Queenie K.-G., additional, Tan, Amelia L.M., additional, Tarakad, Arjun, additional, Taylor, Herman, additional, Tekin, Mustafa, additional, Telischi, Fred, additional, Thorson, Willa, additional, Tifft, Cynthia J., additional, Toro, Camilo, additional, Tran, Alyssa A., additional, Ungar, Rachel A., additional, Urv, Tiina K., additional, Vanderver, Adeline, additional, Velinder, Matt, additional, Viskochil, Dave, additional, Vogel, Tiphanie P., additional, Wahl, Colleen E., additional, Walker, Melissa, additional, Walley, Nicole M., additional, Wambach, Jennifer, additional, Wan, Jijun, additional, Wang, Lee-kai, additional, Wangler, Michael F., additional, Ward, Patricia A., additional, Wegner, Daniel, additional, Weisz Hubshman, Monika, additional, Wener, Mark, additional, Wenger, Tara, additional, Westerfield, Monte, additional, Wheeler, Matthew T., additional, Whitlock, Jordan, additional, Wolfe, Lynne A., additional, Worley, Kim, additional, Yamamoto, Shinya, additional, Zhang, Zhe, additional, and Zuchner, Stephan, additional
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- 2024
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38. PIGG variant pathogenicity assessment reveals characteristic features within 19 families
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Tremblay-Laganière, Camille, Maroofian, Reza, Nguyen, Thi Tuyet Mai, Karimiani, Ehsan Ghayoor, Kirmani, Salman, Akbar, Fizza, Ibrahim, Shahnaz, Afroze, Bushra, Doosti, Mohammad, Ashrafzadeh, Farah, Babaei, Meisam, Efthymiou, Stephanie, Christoforou, Marilena, Sultan, Tipu, Ladda, Roger L., McLaughlin, Heather M., Truty, Rebecca, Mahida, Sonal, Cohen, Julie S., Baranano, Kristin, Ismail, Fatima Y., Patel, Millan S., Lehman, Anna, Edmondson, Andrew C., Nagy, Amanda, Walker, Melissa A., Mercimek-Andrews, Saadet, Maki, Yuta, Sachdev, Rani, Macintosh, Rebecca, Palmer, Elizabeth E., Mancini, Grazia M.S., Barakat, Tahsin Stefan, Steinfeld, Robert, Rüsch, Christina T., Stettner, Georg M., Wagner, Matias, Wortmann, Saskia B., Kini, Usha, Brady, Angela F., Stals, Karen L., Ismayilova, Naila, Ellard, Sian, Bernardo, Danilo, Nugent, Kimberly, McLean, Scott D., Antonarakis, Stylianos E., Houlden, Henry, Kinoshita, Taroh, Campeau, Philippe M., and Murakami, Yoshiko
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- 2021
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39. Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders
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May, Halie J., Jeong, Jaehoon, Revah-Politi, Anya, Cohen, Julie S., Chassevent, Anna, Baptista, Julia, Baugh, Evan H., Bier, Louise, Bottani, Armand, Te Carminho A. Rodrigues, Maria resa, Conlon, Charles, Fluss, Joel, Guipponi, Michel, Kim, Chong Ae, Matsumoto, Naomichi, Person, Richard, Primiano, Michelle, Rankin, Julia, Shinawi, Marwan, Smith-Hicks, Constance, Telegrafi, Aida, Toy, Samantha, Uchiyama, Yuri, Aggarwal, Vimla, Goldstein, David B., Roche, Katherine W., and Anyane-Yeboa, Kwame
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- 2021
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40. Policy Implementation, Principal Agency, and Strategic Action: Improving Teaching Effectiveness in New York City Middle Schools
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Cohen, Julie, Loeb, Susanna, Miller, Luke C., and Wyckoff, James H.
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- 2020
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41. DNM1 encephalopathy
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von Spiczak, Sarah, Helbig, Katherine L, Shinde, Deepali N, Huether, Robert, Pendziwiat, Manuela, Lourenço, Charles, Nunes, Mark E, Sarco, Dean P, Kaplan, Richard A, Dlugos, Dennis J, Kirsch, Heidi, Slavotinek, Anne, Cilio, Maria R, Cervenka, Mackenzie C, Cohen, Julie S, McClellan, Rebecca, Fatemi, Ali, Yuen, Amy, Sagawa, Yoshimi, Littlejohn, Rebecca, McLean, Scott D, Hernandez-Hernandez, Laura, Maher, Bridget, Møller, Rikke S, Palmer, Elizabeth, Lawson, John A, Campbell, Colleen A, Joshi, Charuta N, Kolbe, Diana L, Hollingsworth, Georgie, Neubauer, Bernd A, Muhle, Hiltrud, Stephani, Ulrich, Scheffer, Ingrid E, Pena, Sérgio DJ, Sisodiya, Sanjay M, and Helbig, Ingo
- Subjects
Neurosciences ,Intellectual and Developmental Disabilities (IDD) ,Genetics ,Clinical Research ,Brain Disorders ,Epilepsy ,Pediatric ,Neurodegenerative ,Aetiology ,2.1 Biological and endogenous factors ,Adolescent ,Brain Diseases ,Child ,Child ,Preschool ,Cohort Studies ,DNA Mutational Analysis ,Dynamins ,Female ,GTP Phosphohydrolases ,Homeodomain Proteins ,Humans ,Infant ,Male ,Microtubule-Associated Proteins ,Mitochondrial Proteins ,Models ,Molecular ,Mutation ,Phenotype ,Short Stature Homeobox Protein ,Siblings ,Synaptic Vesicles ,Young Adult ,Epi4K Consortium ,EuroEPINOMICS-RES NLES Working Group ,Clinical Sciences ,Cognitive Sciences ,Neurology & Neurosurgery - Abstract
ObjectiveTo evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling.MethodsWe reviewed phenotypic data of 21 patients (7 previously published) with DNM1 mutations. We compared mutation data to known functional data and undertook biomolecular modeling to assess the effect of the mutations on protein function.ResultsWe identified 19 patients with de novo mutations in DNM1 and a sibling pair who had an inherited mutation from a mosaic parent. Seven patients (33.3%) carried the recurrent p.Arg237Trp mutation. A common phenotype emerged that included severe to profound intellectual disability and muscular hypotonia in all patients and an epilepsy characterized by infantile spasms in 16 of 21 patients, frequently evolving into Lennox-Gastaut syndrome. Two patients had profound global developmental delay without seizures. In addition, we describe a single patient with normal development before the onset of a catastrophic epilepsy, consistent with febrile infection-related epilepsy syndrome at 4 years. All mutations cluster within the GTPase or middle domains, and structural modeling and existing functional data suggest a dominant-negative effect on DMN1 function.ConclusionsThe phenotypic spectrum of DNM1-related encephalopathy is relatively homogeneous, in contrast to many other genetic epilepsies. Up to one-third of patients carry the recurrent p.Arg237Trp variant, which is now one of the most common recurrent variants in epileptic encephalopathies identified to date. Given the predicted dominant-negative mechanism of this mutation, this variant presents a prime target for therapeutic intervention.
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- 2017
42. DNM1 encephalopathy: A new disease of vesicle fission.
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von Spiczak, Sarah, Helbig, Katherine L, Shinde, Deepali N, Huether, Robert, Pendziwiat, Manuela, Lourenço, Charles, Nunes, Mark E, Sarco, Dean P, Kaplan, Richard A, Dlugos, Dennis J, Kirsch, Heidi, Slavotinek, Anne, Cilio, Maria R, Cervenka, Mackenzie C, Cohen, Julie S, McClellan, Rebecca, Fatemi, Ali, Yuen, Amy, Sagawa, Yoshimi, Littlejohn, Rebecca, McLean, Scott D, Hernandez-Hernandez, Laura, Maher, Bridget, Møller, Rikke S, Palmer, Elizabeth, Lawson, John A, Campbell, Colleen A, Joshi, Charuta N, Kolbe, Diana L, Hollingsworth, Georgie, Neubauer, Bernd A, Muhle, Hiltrud, Stephani, Ulrich, Scheffer, Ingrid E, Pena, Sérgio DJ, Sisodiya, Sanjay M, Helbig, Ingo, Epi4K Consortium, and EuroEPINOMICS-RES NLES Working Group
- Subjects
Epi4K Consortium ,EuroEPINOMICS-RES NLES Working Group ,Synaptic Vesicles ,Humans ,Brain Diseases ,GTP Phosphohydrolases ,Microtubule-Associated Proteins ,Homeodomain Proteins ,Mitochondrial Proteins ,Cohort Studies ,DNA Mutational Analysis ,Siblings ,Phenotype ,Mutation ,Models ,Molecular ,Adolescent ,Child ,Child ,Preschool ,Infant ,Female ,Male ,Young Adult ,Short Stature Homeobox Protein ,Dynamins ,Models ,Molecular ,Preschool ,Clinical Sciences ,Neurosciences ,Cognitive Sciences ,Neurology & Neurosurgery - Abstract
ObjectiveTo evaluate the phenotypic spectrum caused by mutations in dynamin 1 (DNM1), encoding the presynaptic protein DNM1, and to investigate possible genotype-phenotype correlations and predicted functional consequences based on structural modeling.MethodsWe reviewed phenotypic data of 21 patients (7 previously published) with DNM1 mutations. We compared mutation data to known functional data and undertook biomolecular modeling to assess the effect of the mutations on protein function.ResultsWe identified 19 patients with de novo mutations in DNM1 and a sibling pair who had an inherited mutation from a mosaic parent. Seven patients (33.3%) carried the recurrent p.Arg237Trp mutation. A common phenotype emerged that included severe to profound intellectual disability and muscular hypotonia in all patients and an epilepsy characterized by infantile spasms in 16 of 21 patients, frequently evolving into Lennox-Gastaut syndrome. Two patients had profound global developmental delay without seizures. In addition, we describe a single patient with normal development before the onset of a catastrophic epilepsy, consistent with febrile infection-related epilepsy syndrome at 4 years. All mutations cluster within the GTPase or middle domains, and structural modeling and existing functional data suggest a dominant-negative effect on DMN1 function.ConclusionsThe phenotypic spectrum of DNM1-related encephalopathy is relatively homogeneous, in contrast to many other genetic epilepsies. Up to one-third of patients carry the recurrent p.Arg237Trp variant, which is now one of the most common recurrent variants in epileptic encephalopathies identified to date. Given the predicted dominant-negative mechanism of this mutation, this variant presents a prime target for therapeutic intervention.
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- 2017
43. Advancing Infant and Early Childhood Mental Health: The Integration of DC:0-5™ into State Policy and Systems
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Szekely, Amanda, Ahlers, Therese, Cohen, Julie, and Oser, Cindy
- Abstract
This article discusses why and how states are integrating "DC:0-5™: Diagnostic Classification of Mental Health and Developmental Disorders of Infancy and Early Childhood" (DC:0-5) into state policy and systems; provides state examples to highlight some of the strategies that states have used to allow, promote, or require the use of DC:0-5; and provides recommendations for further improvements in state infant and early childhood mental health policy and practice. The article provides a point-in-time overview of how DC:0-5 is being integrated into state systems and policies and is a sample of the innovative work going on across the United States. The article is adapted from a paper of the same name published in 2018 by the ZERO TO THREE Policy Center.
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- 2018
44. Clinical descriptive and long‐term outcome of melanocytic uveal lesions in young dogs: 40 cases (45 eyes) including 13 cases of sector iridectomy.
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Dufour, Valerie Liliane, Cohen, Julie A., Assenmacher, Charles‐Antoine, Holle, Dolores M., Durham, Amy C., Aguirre, Gustavo D., and Miyadera, Keiko
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- *
UVEA , *GERMAN shepherd dog , *DOGS , *IRIS (Eye) , *GOLDEN retriever , *LABRADOR retriever , *SURGICAL excision , *OPERATIVE surgery - Abstract
Purpose Methods Results Conclusion To describe the clinical features surgical technique, early and long‐term outcome with or without surgery, and histopathological findings of melanocytic anterior uveal lesions in young dogs.Medical records of dogs at a guide dog facility removed from training due to a pigmented iris lesion were reviewed from 2014 to 2021. Selected dogs had surgical iridectomies performed.Iridal melanocytic lesions were characterized as well‐delineated, pigmented, and flat (nevus) or raised (mass) lesions of the iris. Forty dogs (18 Labrador retrievers, 18 German shepherd dogs, 1 Golden retriever, 3 Labrador/Golden mixes) ranging from 0.5 to 3.1 years of age were affected unilaterally (n = 35) or bilaterally (n = 5). Sector iridectomy was performed in 13 dogs with prominent and well‐isolated mass lesion and enucleation was carried out in 2 dogs with extensive lesions, while all other cases were monitored without surgical intervention. Postoperative complications included dyscoria (13/13), focal posterior synechia (9/13) and focal nonprogressive cataract (8/13). All eyes remained visual and comfortable up to 6.2 years post‐iridectomy with no clinically identifiable local recurrence. Histopathology was consistent with uveal melanocytoma in all samples obtained surgically. All cases that did not undergo surgery remained free of complications up to 4.5 year post diagnosis.Melanocytic anterior uveal lesions may be overrepresented in certain lineages of breeds and be present at a young age. While none of the eyes developed complications when monitored without surgery, early surgical excision of the mass by sector iridectomy yields noteworthy functional outcome and retention of a comfortable globe. [ABSTRACT FROM AUTHOR]
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- 2024
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45. Core Requirements, Structured Flexibility, and Local Judgment: Balancing Adherence and Adaptation in the Design and Implementation of District-Wide Professional Development
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Cohen, Julie, primary, Boguslav, Arielle, additional, Wyckoff, James, additional, Katz, Veronica, additional, Sadowski, Katherine, additional, and Wiseman, Emily A., additional
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- 2023
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46. Implications of a Community-Based Learning Faculty Fellows Program to Facilitate Teaching and Learning in the Jesuit Tradition
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Fetherman, Debra, primary, Schumacher Cohen, Julie, additional, Cocieru, Ovidiu, additional, Dumancas, Gerard, additional, Snee, Brian, additional, and Wisniewski, Patricia, additional
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- 2023
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47. In‐vivo Braak Stage Distribution of Screened and Randomized Participants from Auτonomy, a Phase 2 Anti‐p‐tau Monoclonal Antibody Trial in Early Symptomatic Alzheimer’s Disease
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Saad, Ziad S., primary, Cohen, Julie S, additional, Fedgchin, Maggie M, additional, Quiceno, Mary Ellen, additional, Henley, David, additional, and Kolb, Hartmuth C., additional
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- 2023
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48. Aorta Without Coronary Arteries: Anatomic Variants of a Rare Malformation
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Karila-Cohen, Julie, primary, Laux, Daniela, additional, Houyel, Lucile, additional, and Bonnet, Damien, additional
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- 2023
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49. Elp2 mutations perturb the epitranscriptome and lead to a complex neurodevelopmental phenotype
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Kojic, Marija, Gawda, Tomasz, Gaik, Monika, Begg, Alexander, Salerno-Kochan, Anna, Kurniawan, Nyoman D., Jones, Alun, Drożdżyk, Katarzyna, Kościelniak, Anna, Chramiec-Głąbik, Andrzej, Hediyeh-Zadeh, Soroor, Kasherman, Maria, Shim, Woo Jun, Sinniah, Enakshi, Genovesi, Laura A., Abrahamsen, Rannvá K., Fenger, Christina D., Madsen, Camilla G., Cohen, Julie S., Fatemi, Ali, Stark, Zornitza, Lunke, Sebastian, Lee, Joy, Hansen, Jonas K., Boxill, Martin F., Keren, Boris, Marey, Isabelle, Saenz, Margarita S., Brown, Kathleen, Alexander, Suzanne A., Mureev, Sergey, Batzilla, Alina, Davis, Melissa J., Piper, Michael, Bodén, Mikael, Burne, Thomas H. J., Palpant, Nathan J., Møller, Rikke S., Glatt, Sebastian, and Wainwright, Brandon J.
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- 2021
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50. What Constitutes an 'Opportunity to Learn' in Teacher Preparation?
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Cohen, Julie and Berlin, Rebekah
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Teachers -- Surveys ,Instructional materials -- Analysis -- Surveys ,Education - Abstract
Teacher education research is in still in the process of developing a robust set of tools that can measure the key features of coursework and fieldwork. This article focuses on the design of measures of 'opportunities to learn' (OTLs) in content method courses that can be used across large populations of candidates at diverse preparation programs. We draw on the survey and interview data from a broader, longitudinal study of teacher preparation across four programs in the United States (n = 455 candidates). Variance decomposition suggests far greater within-program variation than between-program variation in reported OTL. More nuanced analyses at a single university indicate significant associations between individual characteristics and reports of OTL, suggesting that self-reports of OTL may tell us more about the candidates who complete a survey than the programs that prepare them. Discussion focuses on implications for teacher education research and next steps for studying OTL in methods coursework. Keywords elementary teacher education, practice-based teacher education, teacher education research methodology, Introduction Measuring what happens during teacher preparation has been a long-standing puzzle for the teaching field. Teacher education research is still developing a robust set of tools that can be [...]
- Published
- 2020
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