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387 results on '"Kruszka, Paul"'

2. A systematic framework for selecting gene-condition pairs for inclusion in newborn sequencing panels: Early Check implementation

Author

Cope, Heidi L., Milko, Laura V., Jalazo, Elizabeth R., Crissman, Blythe G., Foreman, Ann Katherine M., Powell, Bradford C., deJong, Neal A., Hunter, Jessica Ezzell, Boyea, Beth Lincoln, Forsythe, Ana N., Wheeler, Anne C., Zimmerman, Rebekah S., Suchy, Sharon F., Begtrup, Amber, Langley, Katherine G., Monaghan, Kristin G., Kraczkowski, Christina, Hruska, Kathleen S., Kruszka, Paul, Kucera, Katerina S., Berg, Jonathan S., Powell, Cynthia M., and Peay, Holly L.

Published
2024
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3. The human Y and inactive X chromosomes similarly modulate autosomal gene expression

Author

San Roman, Adrianna K., Skaletsky, Helen, Godfrey, Alexander K., Bokil, Neha V., Teitz, Levi, Singh, Isani, Blanton, Laura V., Bellott, Daniel W., Pyntikova, Tatyana, Lange, Julian, Koutseva, Natalia, Hughes, Jennifer F., Brown, Laura, Phou, Sidaly, Buscetta, Ashley, Kruszka, Paul, Banks, Nicole, Dutra, Amalia, Pak, Evgenia, Lasutschinkow, Patricia C., Keen, Colleen, Davis, Shanlee M., Lin, Angela E., Tartaglia, Nicole R., Samango-Sprouse, Carole, Muenke, Maximilian, and Page, David C.

Published
2024
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4. The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Author

Marshall, Christian, Meng, Linyan, Jobanputra, Vaidehi, Taft, Ryan, Ashley, Euan, Nakouzi, Ghunwa, Shen, Wei, Kingsmore, Stephen, Rehm, Heidi, Rehm, Heidi L., Alaimo, Joseph T., Aradhya, Swaroop, Bayrak-Toydemir, Pinar, Best, Hunter, Brandon, Rhonda, Buchan, Jillian G., Chao, Elizabeth C., Chen, Elaine, Clifford, Jacob, Cohen, Ana S.A., Conlin, Laura K., Das, Soma, Davis, Kyle W., del Gaudio, Daniela, Del Viso, Florencia, DiVincenzo, Christina, Eisenberg, Marcia, Guidugli, Lucia, Hammer, Monia B., Harrison, Steven M., Hatchell, Kathryn E., Dyer, Lindsay Havens, Hoang, Lily U., Holt, James M., Karbassi, Izabela D., Kearney, Hutton M., Kelly, Melissa A., Kelly, Jacob M., Kluge, Michelle L., Komala, Timothy, Kruszka, Paul, Lau, Lynette, Lebo, Matthew S., Marshall, Christian R., McKnight, Dianalee, McWalter, Kirsty, Meng, Yan, Nagan, Narasimhan, Neckelmann, Christian S., Neerman, Nir, Niu, Zhiyv, Paolillo, Vitoria K., Paolucci, Sarah A., Perry, Denise, Pesaran, Tina, Radtke, Kelly, Rasmussen, Kristen J., Retterer, Kyle, Saunders, Carol J., Spiteri, Elizabeth, Stanley, Christine, Szuto, Anna, Taft, Ryan J., Thiffault, Isabelle, Thomas, Brittany C., Thomas-Wilson, Amanda, Thorpe, Erin, Tidwell, Timothy J., Towne, Meghan C., and Zouk, Hana

Published
2023
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5. Loss-of-Function Variants in PPP1R12A: From Isolated Sex Reversal to Holoprosencephaly Spectrum and Urogenital Malformations.

Author

Hughes, Joel, Alkhunaizi, Ebba, Kruszka, Paul, Pyle, Louise, Grange, Dorothy, Berger, Seth, Payne, Katelyn, Masser-Frye, Diane, Hu, Tommy, Christie, Michelle, Clegg, Nancy, Everson, Joshua, Martinez, Ariel, Walsh, Laurence, Bedoukian, Emma, Jones, Marilyn, Harris, Catharine, Riedhammer, Korbinian, Choukair, Daniela, Fechner, Patricia, Rutter, Meilan, Hufnagel, Sophia, Roifman, Maian, Kletter, Gad, Delot, Emmanuele, Vilain, Eric, Lipinski, Robert, Vezina, Chad, Muenke, Maximilian, and Chitayat, David

Subjects
MYPT1, PPP1R12A, disorders of sex development, embryogenesis, encephalocele, facial dysmorphism, forebrain, holoprosencephaly, hypospadias, omphalocele, Abnormalities, Multiple, Adolescent, Child, Child, Preschool, Disorders of Sex Development, Female, Gestational Age, Holoprosencephaly, Humans, Male, Mutation, Myosin-Light-Chain Phosphatase, Phenotype, Pregnancy, Urogenital Abnormalities
Abstract

In two independent ongoing next-generation sequencing projects for individuals with holoprosencephaly and individuals with disorders of sex development, and through international research collaboration, we identified twelve individuals with de novo loss-of-function (LoF) variants in protein phosphatase 1, regulatory subunit 12a (PPP1R12A), an important developmental gene involved in cell migration, adhesion, and morphogenesis. This gene has not been previously reported in association with human disease, and it has intolerance to LoF as illustrated by a very low observed-to-expected ratio of LoF variants in gnomAD. Of the twelve individuals, midline brain malformations were found in five, urogenital anomalies in nine, and a combination of both phenotypes in two. Other congenital anomalies identified included omphalocele, jejunal, and ileal atresia with aberrant mesenteric blood supply, and syndactyly. Six individuals had stop gain variants, five had a deletion or duplication resulting in a frameshift, and one had a canonical splice acceptor site loss. Murine and human in situ hybridization and immunostaining revealed PPP1R12A expression in the prosencephalic neural folds and protein localization in the lower urinary tract at critical periods for forebrain division and urogenital development. Based on these clinical and molecular findings, we propose the association of PPP1R12A pathogenic variants with a congenital malformations syndrome affecting the embryogenesis of the brain and genitourinary systems and including disorders of sex development.

Published
2020

6. De novo variants implicate chromatin modification, transcriptional regulation, and retinoic acid signaling in syndromic craniosynostosis

Author

Timberlake, Andrew T., McGee, Stephen, Allington, Garrett, Kiziltug, Emre, Wolfe, Erin M., Stiegler, Amy L., Boggon, Titus J., Sanyoura, May, Morrow, Michelle, Wenger, Tara L., Fernandes, Erica M., Caluseriu, Oana, Persing, John A., Jin, Sheng Chih, Lifton, Richard P., Kahle, Kristopher T., and Kruszka, Paul

Published
2023
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7. The human inactive X chromosome modulates expression of the active X chromosome

Author

San Roman, Adrianna K., Godfrey, Alexander K., Skaletsky, Helen, Bellott, Daniel W., Groff, Abigail F., Harris, Hannah L., Blanton, Laura V., Hughes, Jennifer F., Brown, Laura, Phou, Sidaly, Buscetta, Ashley, Kruszka, Paul, Banks, Nicole, Dutra, Amalia, Pak, Evgenia, Lasutschinkow, Patricia C., Keen, Colleen, Davis, Shanlee M., Tartaglia, Nicole R., Samango-Sprouse, Carole, Muenke, Maximilian, and Page, David C.

Published
2023
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8. Cornelia de Lange syndrome in diverse populations

Author

Dowsett, Leah, Porras, Antonio R, Kruszka, Paul, Davis, Brandon, Hu, Tommy, Honey, Engela, Badoe, Eben, Thong, Meow‐Keong, Leon, Eyby, Girisha, Katta M, Shukla, Anju, Nayak, Shalini S, Shotelersuk, Vorasuk, Megarbane, Andre, Phadke, Shubha, Sirisena, Nirmala D, Dissanayake, Vajira HW, Ferreira, Carlos R, Kisling, Monisha S, Tanpaiboon, Pranoot, Uwineza, Annette, Mutesa, Leon, Tekendo‐Ngongang, Cedrik, Wonkam, Ambroise, Fieggen, Karen, Batista, Leticia Cassimiro, Moretti‐Ferreira, Danilo, Stevenson, Roger E, Prijoles, Eloise J, Everman, David, Clarkson, Kate, Worthington, Jessica, Kimonis, Virginia, Hisama, Fuki, Crowe, Carol, Wong, Paul, Johnson, Kisha, Clark, Robin D, Bird, Lynne, Masser‐Frye, Diane, McDonald, Marie, Willems, Patrick, Roeder, Elizabeth, Saitta, Sulgana, Anyane‐Yeoba, Kwame, Demmer, Laurie, Hamajima, Naoki, Stark, Zornitza, Gillies, Greta, Hudgins, Louanne, Dave, Usha, Shalev, Stavit, Siu, Victoria, Gupta, Neerja, Kabra, Madhulika, Ades, Ann, Dubbs, Holly, Raible, Sarah, Kaur, Maninder, Salzano, Emanuela, Jackson, Laird, Deardorff, Matthew, Kline, Antonie, Summar, Marshall, Muenke, Maximilian, Linguraru, Marius George, and Krantz, Ian D

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Brain Disorders, Rare Diseases, Clinical Research, Intellectual and Developmental Disabilities (IDD), Pediatric, Neurosciences, Congenital, Abnormalities, Multiple, Adolescent, Adult, Cell Cycle Proteins, Child, Child, Preschool, Chondroitin Sulfate Proteoglycans, Chromosomal Proteins, Non-Histone, De Lange Syndrome, Face, Female, Humans, Image Processing, Computer-Assisted, Infant, Infant, Newborn, Intellectual Disability, Male, Mutation, Phenotype, Racial Groups, Young Adult, CdLS, Cornelia de Lange syndrome, diverse populations, facial analysis technology, NIPBL, underrepresented minorities, Clinical Sciences, Clinical sciences
Abstract

Cornelia de Lange syndrome (CdLS) is a dominant multisystemic malformation syndrome due to mutations in five genes-NIPBL, SMC1A, HDAC8, SMC3, and RAD21. The characteristic facial dysmorphisms include microcephaly, arched eyebrows, synophrys, short nose with depressed bridge and anteverted nares, long philtrum, thin lips, micrognathia, and hypertrichosis. Most affected individuals have intellectual disability, growth deficiency, and upper limb anomalies. This study looked at individuals from diverse populations with both clinical and molecularly confirmed diagnoses of CdLS by facial analysis technology. Clinical data and images from 246 individuals with CdLS were obtained from 15 countries. This cohort included 49% female patients and ages ranged from infancy to 37 years. Individuals were grouped into ancestry categories of African descent, Asian, Latin American, Middle Eastern, and Caucasian. Across these populations, 14 features showed a statistically significant difference. The most common facial features found in all ancestry groups included synophrys, short nose with anteverted nares, and a long philtrum with thin vermillion of the upper lip. Using facial analysis technology we compared 246 individuals with CdLS to 246 gender/age matched controls and found that sensitivity was equal or greater than 95% for all groups. Specificity was equal or greater than 91%. In conclusion, we present consistent clinical findings from global populations with CdLS while demonstrating how facial analysis technology can be a tool to support accurate diagnoses in the clinical setting. This work, along with prior studies in this arena, will assist in earlier detection, recognition, and treatment of CdLS worldwide.

Published
2019

9. Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot

Author

Škorić-Milosavljević, Doris, Lahrouchi, Najim, Bosada, Fernanda M., Dombrowsky, Gregor, Williams, Simon G., Lesurf, Robert, Tjong, Fleur V.Y., Walsh, Roddy, El Bouchikhi, Ihssane, Breckpot, Jeroen, Audain, Enrique, Ilgun, Aho, Beekman, Leander, Ratbi, Ilham, Strong, Alanna, Muenke, Maximilian, Heide, Solveig, Muir, Alison M., Hababa, Mariam, Cross, Laura, Zhou, Dihong, Pastinen, Tomi, Hitz, Marc-Phillip, Abdul-Khaliq, Hashim, Berger, Felix, Dähnert, Ingo, Dittrich, Sven, Uebing, Anselm, Stiller, Brigitte, Zackai, Elaine, Atmani, Samir, Ouldim, Karim, Adadi, Najlae, Steindl, Katharina, Rauch, Anita, Brook, David, Wilsdon, Anna, Kuipers, Irene, Blom, Nico A., Mulder, Barbara J., Mefford, Heather C., Keren, Boris, Joset, Pascal, Kruszka, Paul, Thiffault, Isabelle, Sheppard, Sarah E., Roberts, Amy, Lodder, Elisabeth M., Keavney, Bernard D., Clur, Sally-Ann B., Mital, Seema, Hitz, Marc-Philip, Christoffels, Vincent M., Postma, Alex V., and Bezzina, Connie R.

Published
2021
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10. Sex differences in neutrophil biology modulate response to type I interferons and immunometabolism

Author

Gupta, Sarthak, Nakabo, Shuichiro, Blanco, Luz P., O’Neil, Liam J., Wigerblad, Gustaf, Goel, Rishi R., Mistry, Pragnesh, Jiang, Kan, Carmona-Rivera, Carmelo, Chan, Diana W., Wang, Xinghao, Pedersen, Hege L., Gadkari, Manasi, Howe, Katherine N., Naz, Faiza, Dell’Orso, Stefania, Hasni, Sarfaraz A., Dempsey, Caeden, Buscetta, Ashley, Frischmeyer-Guerrerio, Pamela A., Kruszka, Paul, Muenke, Maximilian, Franco, Luis M., Sun, Hong-Wei, and Kaplan, Mariana J.

Published
2020

12. Haploinsufficiency of ZNF462 is associated with craniofacial anomalies, corpus callosum dysgenesis, ptosis, and developmental delay

Author

Weiss, Karin, Wigby, Kristen, Fannemel, Madeleine, Henderson, Lindsay B, Beck, Natalie, Ghali, Neeti, Study, DDD, Anderlid, Britt-Marie, Lundin, Johanna, Hamosh, Ada, Jones, Marilyn C, Ghedia, Sondhya, Muenke, Maximilian, and Kruszka, Paul

Subjects
Pediatric, Congenital Structural Anomalies, Clinical Research, Human Genome, Genetics, Rare Diseases, Dental/Oral and Craniofacial Disease, Aetiology, 2.1 Biological and endogenous factors, Adult, Agenesis of Corpus Callosum, Blepharoptosis, Child, Child, Preschool, Craniofacial Abnormalities, DNA-Binding Proteins, Developmental Disabilities, Female, Haploinsufficiency, Humans, Infant, Male, Nerve Tissue Proteins, Syndrome, Transcription Factors, Clinical Sciences, Genetics & Heredity
Abstract

The introduction of whole-exome sequencing into the Pediatric Genetics clinic has increased the identification of novel genes associated with neurodevelopmental disorders and congenital anomalies. This agnostic approach has shed light on multiple proteins and pathways not previously known to be associated with disease. Here we report eight subjects from six families with predicted loss of function variants in ZNF462, a zinc-finger protein of unknown function. These individuals have overlapping phenotypes that include ptosis, metopic ridging, craniosynostosis, dysgenesis of the corpus callosum, and developmental delay. We propose that ZNF462 plays an important role in embryonic development, and is associated with craniofacial and neurodevelopmental abnormalities.

Published
2017

13. A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants

Author

Genetica, Genetica Klinische Genetica, Child Health, Borroto, Maria Carla, Michaud, Coralie, Hudon, Chloé, Agrawal, Pankaj B., Agre, Katherine, Applegate, Carolyn D., Beggs, Alan H., Bjornsson, Hans T., Callewaert, Bert, Chen, Mei Jan, Curry, Cynthia, Devinsky, Orrin, Dudding-Byth, Tracy, Fagan, Kelly, Finnila, Candice R., Gavrilova, Ralitza, Genetti, Casie A., Hiatt, Susan M., Hildebrandt, Friedhelm, Wojcik, Monica H., Kleefstra, Tjitske, Kolvenbach, Caroline M., Korf, Bruce R., Kruszka, Paul, Li, Hong, Litwin, Jessica, Marcadier, Julien, Platzer, Konrad, Blackburn, Patrick R., Reijnders, Margot R.F., Reutter, Heiko, Schanze, Ina, Shieh, Joseph T., Stevens, Cathy A., Valivullah, Zaheer, van den Boogaard, Marie José, Klee, Eric W., Campeau, Philippe M., Genetica, Genetica Klinische Genetica, Child Health, Borroto, Maria Carla, Michaud, Coralie, Hudon, Chloé, Agrawal, Pankaj B., Agre, Katherine, Applegate, Carolyn D., Beggs, Alan H., Bjornsson, Hans T., Callewaert, Bert, Chen, Mei Jan, Curry, Cynthia, Devinsky, Orrin, Dudding-Byth, Tracy, Fagan, Kelly, Finnila, Candice R., Gavrilova, Ralitza, Genetti, Casie A., Hiatt, Susan M., Hildebrandt, Friedhelm, Wojcik, Monica H., Kleefstra, Tjitske, Kolvenbach, Caroline M., Korf, Bruce R., Kruszka, Paul, Li, Hong, Litwin, Jessica, Marcadier, Julien, Platzer, Konrad, Blackburn, Patrick R., Reijnders, Margot R.F., Reutter, Heiko, Schanze, Ina, Shieh, Joseph T., Stevens, Cathy A., Valivullah, Zaheer, van den Boogaard, Marie José, Klee, Eric W., and Campeau, Philippe M.

Published
2024

14. A novel SMARCC1 BAFopathy implicates neural progenitor epigenetic dysregulation in human hydrocephalus

Author

Singh, Amrita K, primary, Allington, Garrett, additional, Viviano, Stephen, additional, McGee, Stephen, additional, Kiziltug, Emre, additional, Ma, Shaojie, additional, Zhao, Shujuan, additional, Mekbib, Kedous Y, additional, Shohfi, John P, additional, Duy, Phan Q, additional, DeSpenza, Tyrone, additional, Furey, Charuta G, additional, Reeves, Benjamin C, additional, Smith, Hannah, additional, Sousa, André M M, additional, Cherskov, Adriana, additional, Allocco, August, additional, Nelson-Williams, Carol, additional, Haider, Shozeb, additional, Rizvi, Syed R A, additional, Alper, Seth L, additional, Sestan, Nenad, additional, Shimelis, Hermela, additional, Walsh, Lauren K, additional, Lifton, Richard P, additional, Moreno-De-Luca, Andres, additional, Jin, Sheng Chih, additional, Kruszka, Paul, additional, Deniz, Engin, additional, and Kahle, Kristopher T, additional

Published
2023
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15. Proceedings from the Turner Resource Network symposium: The crossroads of health care research and health care delivery

Author

Backeljauw, Philippe F, Bondy, Carolyn, Chernausek, Steven D, Cernich, Joseph T, Cole, David A, Fasciano, Laura P, Foodim, Joan, Hawley, Scott, Hong, David S, Knickmeyer, Rebecca C, Kruszka, Paul, Lin, Angela E, Lippe, Barbara M, Lorigan, Gary A, Maslen, Cheryl L, Mauras, Nelly, Page, David C, Pemberton, Victoria L, Prakash, Siddharth K, Quigley, Charmian A, Ranallo, Kelly C, Reiss, Allan L, Sandberg, David E, Scurlock, Cindy, and Silberbach, Michael

Subjects
Biological Sciences, Biomedical and Clinical Sciences, Genetics, Rare Diseases, Pediatric, 7.1 Individual care needs, Management of diseases and conditions, Congenital, Good Health and Well Being, Delivery of Health Care, Female, Genetic Research, Health Services Research, Humans, Registries, Sex Chromosomes, Turner Syndrome, monosomy X, Turner syndrome, women, congenital heart disease, genetics, neurodevelopment, chromosome, sex chromosomes, women's health, quality of life, Clinical Sciences, Clinical sciences
Abstract

Turner syndrome, a congenital condition that affects ∼1/2,500 births, results from absence or structural alteration of the second sex chromosome. There has been substantial effort by numerous clinical and genetic research groups to delineate the clinical, pathophysiological, cytogenetic, and molecular features of this multisystem condition. Questions about the molecular-genetic and biological basis of many of the clinical features remain unanswered, and health care providers and families seek improved care for affected individuals. The inaugural "Turner Resource Network (TRN) Symposium" brought together individuals with Turner syndrome and their families, advocacy group leaders, clinicians, basic scientists, physician-scientists, trainees and other stakeholders with interest in the well-being of individuals and families living with the condition. The goal of this symposium was to establish a structure for a TRN that will be a patient-powered organization involving those living with Turner syndrome, their families, clinicians, and scientists. The TRN will identify basic and clinical questions that might be answered with registries, clinical trials, or through bench research to promote and advocate for best practices and improved care for individuals with Turner syndrome. The symposium concluded with the consensus that two rationales justify the creation of a TRN: inadequate attention has been paid to the health and psychosocial issues facing girls and women who live with Turner syndrome; investigations into the susceptibility to common disorders such as cardiovascular or autoimmune diseases caused by sex chromosome deficiencies will increase understanding of disease susceptibilities in the general population.

Published
2015

16. Turner Syndrome

Author

Backeljauw, Philippe, primary, Chernausek, Steven D., additional, Gravholt, Claus Højbjerg, additional, and Kruszka, Paul, additional

Published
2021
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17. Contributors

Author

Aungst, Heide, primary, Backeljauw, Philippe, additional, Baron, Jeffrey, additional, Battelino, Tadej, additional, Bauer, Andrew J., additional, Breault, David T., additional, Chan, Yee-Ming, additional, Chernausek, Steven D., additional, Cooke, David W., additional, Couch, Sarah C., additional, Daniels, Stephen R., additional, Dattani, Mehul T., additional, De Leon, Diva D., additional, Deladoey, Johnny, additional, Dunkel, Leo, additional, Feldman, Brian J., additional, Fishbein, Lauren, additional, Flück, Christa E., additional, Gravholt, Claus Højbjerg, additional, Greeley, Siri Atma W., additional, Grimberg, Adda, additional, Haller, Michael J., additional, Han, Joan C., additional, Jones, Helen N., additional, Jorge, Alexander A.L., additional, Kruszka, Paul, additional, Kublaoui, Bassil, additional, Lee, Peter A., additional, Levine, Michael A., additional, Maahs, David, additional, Majzoub, Joseph A., additional, Malhotra, Tani, additional, McCauley, Mary K., additional, Menon, Ram K., additional, Mesiano, Sam, additional, Miller, Walter L., additional, Muglia, Louis J., additional, Nakamoto, Jon, additional, Nambam, Bimota, additional, Palmert, Mark R., additional, Philipson, Louis H., additional, Phillip, Moshe, additional, Radovick, Sally, additional, Rivkees, Scott, additional, Root, Allen W., additional, Rosenfield, Robert L., additional, Rosenthal, Stephen M., additional, Schatz, Desmond, additional, Sperling, Mark A., additional, Srivatsa, Abhinash, additional, Stanley, Charles A., additional, Stratakis, Constantine A., additional, Tamborlane, William V., additional, Thornton, Paul, additional, Trucco, Massimo, additional, Van Vliet, Guy, additional, von Oettingen, Julia Elisabeth, additional, Waguespack, Steven G., additional, Weiss, Ram, additional, Winter, William E., additional, Wisniewski, Amy B., additional, Witchel, Selma Feldman, additional, and Wolfsdorf, Joseph I., additional

Published
2021
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18. The 8th International RASopathies Symposium: Expanding research and care practice through global collaboration and advocacy

Author

Pierpont, Elizabeth I., primary, Bennett, Anton M., additional, Schoyer, Lisa, additional, Stronach, Beth, additional, Anschutz, April, additional, Borrie, Sarah C., additional, Briggs, Benjamin, additional, Burkitt‐Wright, Emma, additional, Castel, Pau, additional, Cirstea, Ion C., additional, Draaisma, Fieke, additional, Ellis, Michelle, additional, Fear, Vanessa S., additional, Frone, Megan N., additional, Flex, Elisabetta, additional, Gelb, Bruce D., additional, Green, Tamar, additional, Gripp, Karen W., additional, Khoshkhoo, Sattar, additional, Kieran, Mark W., additional, Kleemann, Karolin, additional, Klein‐Tasman, Bonita P., additional, Kontaridis, Maria I., additional, Kruszka, Paul, additional, Leoni, Chiara, additional, Liu, Clifford Z., additional, Merchant, Nadia, additional, Magoulas, Pilar L., additional, Moertel, Christopher, additional, Prada, Carlos E., additional, Rauen, Katherine A., additional, Roelofs, Renée, additional, Rossignol, Rodrigue, additional, Sevilla, Christine, additional, Sevilla, Gigi, additional, Sheedy, Ryan, additional, Stieglitz, Elliot, additional, Sun, Daochun, additional, Tiemens, Dagmar, additional, White, Forest, additional, Wingbermühle, Ellen, additional, Wolf, Cordula, additional, Zenker, Martin, additional, and Andelfinger, Gregor, additional

Published
2023
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21. The human Y and inactive X chromosomes similarly modulate autosomal gene expression

Author

San Roman, Adrianna K., primary, Skaletsky, Helen, additional, Godfrey, Alexander K., additional, Bokil, Neha V., additional, Teitz, Levi, additional, Singh, Isani, additional, Blanton, Laura V., additional, Bellott, Daniel W., additional, Pyntikova, Tatyana, additional, Lange, Julian, additional, Koutseva, Natalia, additional, Hughes, Jennifer F., additional, Brown, Laura, additional, Phou, Sidaly, additional, Buscetta, Ashley, additional, Kruszka, Paul, additional, Banks, Nicole, additional, Dutra, Amalia, additional, Pak, Evgenia, additional, Lasutschinkow, Patricia C., additional, Keen, Colleen, additional, Davis, Shanlee M., additional, Lin, Angela E., additional, Tartaglia, Nicole R., additional, Samango-Sprouse, Carole, additional, Muenke, Maximilian, additional, and Page, David C., additional

Published
2023
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24. O35: Feasibility of expanded newborn screening using genome sequencing for early actionable conditions in a diverse city

Author

Chung, Wendy, Ziegler, Alban, Koval-Burt, Carrie, Kay, Denise, Suchy, Sharon, Bergtrup, Amber, Langley, Katherine, Amendola, Laura, Boyd, Brenna, Bradley, Jennifer, Brandt, Tracy, Cohen, Lilian, Coffey, Alison, Devaney, Joseph, Dygulska, Beata, Friedman, Bethany, Fuleihan, Ramsey, Gyimah, Awura, Hernan, Rebecca, Hofherr, Sean, Hruska, Kathleen, Hu, Zhanzhi, Jeanne, Mederic, Jin, Guanjun, Johnson, Aaron, Kavus, Haluk, Leibel, Rudolph, McWalter, Kirsty, Monaghan, Kristin, Soler, Nicole Pimentel, Quevedo, Yeyson, Ratner, Samantha, Retterer, Kyle, Shapiro, Natasha, Sicko, Robert, Storm, Samuel, Torene, Rebecca, Williams, Olatundun, Wynn, Julia, Taft, Ryan, Kruszka, Paul, and Caggana, Michele

Published
2024
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26. P214: SeqFirst DDi: Early whole genome sequencing improves access to early precise genetic diagnosis for children with developmental differences

Author

Dipple, Katrina, Doherty, Daniel, Anderson, Kailyn, Sommers, Olivia, Wenger, Tara, MacDuffie, Kate, Keefe, Alexandra, Scott, Abbey, Kruidenier, Lukas, Love-Nichols, Jamie, Gildersleeve, Heidi, Davis, Chayna, Buckingham, Kati, Chong, Jessica, Veenstra, David, Miller, Danny, Copenheaver, Deborah, Juusola, Jane, Retterer, Kyle, McWalter, Kirsty, Kruszka, Paul, Yu, Joon-Ho, and Bamshad, Michael

Published
2024
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27. P194: SeqFirst mitigates race-based disparities in access to a precise genetic diagnosis in hospitalized neonates

Author

Wenger, Tara, Keefe, Alexandra, Kruidenier, Lukas, Sikes, Megan, Scott, Abbey, Yu, Joon-Ho, MacDuffie, Kate, Anderson, Kailyn, Sommers, Olivia, Gildersleeve, Heidi, Buckingham, Kati, Chong, Jessica, Dipple, Katrina, Veenstra, David, Doherty, Dan, Miller, Daniel, Copenheaver, Deborah, Juusola, Jane, Snook, Amy, Davis, Chayna, McWalter, Kirsty, Kruszka, Paul, and Bamshad, Michael

Published
2024
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31. A novel SMARCC1-mutant BAFopathy implicates epigenetic dysregulation of neural progenitors in hydrocephalus

Author

Singh, Amrita, primary, Viviano, Stephen, additional, Allington, Garrett, additional, McGee, Stephen, additional, Kiziltug, Emre, additional, Mekbib, Kedous, additional, Shohfi, John, additional, Duy, Phan, additional, DeSpenza, Tyrone, additional, Furey, Charuta, additional, Reeves, Benjamin, additional, Smith, Hannah, additional, Ma, Shaojie, additional, Sousa, Andre M. M., additional, Cherskov, Adriana, additional, Allocco, August, additional, Nelson-Williams, Carol, additional, Haider, Shozeb, additional, Rizvi, Syed R. A., additional, Alper, Seth, additional, Sestan, Nenad, additional, Shimelis, Hermela, additional, Walsh, Lauren K., additional, Lifton, Richard P., additional, Moreno-De-Luca, Andres, additional, Jin, Sheng Chih, additional, Kruszka, Paul, additional, Deniz, Engin, additional, and Kahle, Kristopher, additional

Published
2023
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32. Ambiguous genitalia, giant congenital melanocytic nevus and subpulmonic outlet ventricular septal defect in an African child with Neurofibromatosis 1.

Author

Ekure, Ekanem N., Musa, Kareem O., Ulonnam, Ngozi, Kruszka, Paul, Muenke, Maximilian, and Adeyemo, Adebowale A.

Abstract

Neurofibromatosis type 1 is an autosomal dominant multisystemic disease caused by mutation of the neurofibromin (NF1) gene located on chromosome 17q11. We report a case of Neurofibromatosis 1 with ambiguous genitalia, giant congenital melanocytic nevus, and associated subpulmonic outlet ventricular septal defect, hitherto unreported in sub‐Saharan Africa. In addition, a literature review of congenital heart diseases associated with Neurofibromatosis 1 is presented. [ABSTRACT FROM AUTHOR]

Published
2023
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33. P414: SeqFirst: Parental perspectives on receiving results from neonatal rapid whole genome sequencing

Author

Wenger, Tara, primary, Keefe, Alexandra, additional, Sikes, Megan, additional, Kruidenier, Luke, additional, Yu, Joon-Ho, additional, McDuffie, Kate, additional, Sommers, Olivia, additional, Gildersleeve, Heidi, additional, Scott, Abbey, additional, Davis, Chayna, additional, Kruszka, Paul, additional, Buckingham, Kati, additional, Chong, Jessica, additional, Retterer, Kyle, additional, McWalter, Kirsty, additional, Snook, Amy, additional, Juusola, Jane, additional, Copenheaver, Deborah, additional, Veenstra, David, additional, Miller, Danny, additional, Dipple, Katrina, additional, and Bamshad, Michael, additional

Published
2023
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34. P453: Diagnostic yield of copy number variants by exome sequencing vs chromosomal microarray

Author

Douglas, Ganka, primary, Meck, Jeanne, additional, Dyer, Lindsay Havens, additional, Brandon, Rhonda, additional, Dyer, Lisa, additional, Ferri, Patricia Fernandez, additional, Liao, Mingjuan, additional, Liu, Shuxi, additional, Matyakhina, Ludmila, additional, Rajcan-Separovic, Evica, additional, Sack, Laura, additional, Sanyoura, May, additional, Wang, Wei, additional, and Kruszka, Paul, additional

Published
2023
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36. P208: SeqFirst: Impact of a precise genetic diagnosis on end-of-life decision making in the NICU*

Author

Keefe, Alexandra, primary, Wenger, Tara, additional, Yu, Joon-Ho, additional, Sikes, Megan, additional, Kruidenier, Luke, additional, Scott, Abbey, additional, McDuffie, Kate, additional, Sommers, Olivia, additional, Gildersleeve, Heidi, additional, Davis, Chayna, additional, Kruszka, Paul, additional, Buckingham, Kati, additional, Chong, Jessica, additional, Veenstra, David, additional, Retterer, Kyle, additional, McWalter, Kirsty, additional, Snook, Amy, additional, Juusola, Jane, additional, Copenheaver, Deborah, additional, Miller, Danny, additional, Dipple, Katrina, additional, Brothers, Kyle, additional, and Bamshad, Michael, additional

Published
2023
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40. The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change

Author

Rehm, Heidi L, primary, Alaimo, Joseph T, additional, Aradhya, Swaroop, additional, Bayrak-Toydemir, Pinar, additional, Best, Hunter, additional, Brandon, Rhonda, additional, Buchan, Jillian G, additional, Chao, Elizabeth C, additional, Chen, Elaine, additional, Clifford, Jacob, additional, Cohen, Ana S, additional, Conlin, Laura K, additional, Das, Soma, additional, Davis, Kyle W, additional, Gaudio, Daniela del, additional, Viso, Florencia Del, additional, DiVincenzo, Christina, additional, Eisenberg, Marcia, additional, Guidugli, Lucia, additional, Hammer, Monia B, additional, Harrison, Steven M, additional, Hatchell, Kathryn E, additional, Dyer, Lindsay Havens, additional, Hoang, Lily U, additional, Holt, James M, additional, Jobanputra, Vaidehi, additional, Karbassi, Izabela D, additional, Kearney, Hutton M, additional, Kelly, Melissa A, additional, Kelly, Jacob M, additional, Kluge, Michelle L, additional, Komala, Timothy, additional, Kruszka, Paul, additional, Lau, Lynette, additional, Lebo, Matthew S, additional, Marshall, Christian R, additional, McKnight, Dianalee, additional, McWalter, Kirsty, additional, Meng, Yan, additional, Nagan, Narasimhan, additional, Neckelmann, Christian S, additional, Neerman, Nir, additional, Niu, Zhiyv, additional, Paolillo, Vitoria K, additional, Paolucci, Sarah A, additional, Perry, Denise, additional, Pesaran, Tina, additional, Radtke, Kelly, additional, Rasmussen, Kristen J, additional, Retterer, Kyle, additional, Saunders, Carol J, additional, Spiteri, Elizabeth, additional, Stanley, Christine M, additional, Szuto, Anna, additional, Taft, Ryan J, additional, Thiffault, Isabelle, additional, Thomas, Brittany C, additional, Thomas-Wilson, Amanda, additional, Thorpe, Erin, additional, Tidwell, Timothy J, additional, Towne, Meghan C, additional, and Zouk, Hana, additional

Published
2022
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42. Loss of function in ROBO1 is associated with tetralogy of Fallot and septal defects

Author

Kruszka, Paul, Tanpaiboon, Pranoot, Neas, Katherine, Crosby, Kathleen, Berger, Seth I, Martinez, Ariel F, Addissie, Yonit A, Pongprot, Yupada, Sittiwangkul, Rekwan, Silvilairat, Suchaya, Makonkawkeyoon, Krit, Yu, Lan, Wynn, Julia, Bennett, James T, Mefford, Heather C, Reynolds, William T, Liu, Xiaoqin, Mommersteeg, Mathilda T M, Chung, Wendy K, Lo, Cecilia W, and Muenke, Maximilian

Published
2017
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44. Noonan syndrome in diverse populations

Author

Kruszka, Paul, Porras, Antonio R., Addissie, Yonit A., Moresco, Angélica, Medrano, Sofia, Mok, Gary T. K., Leung, Gordon K. C., Tekendo‐Ngongang, Cedrik, Uwineza, Annette, Thong, Meow‐Keong, Muthukumarasamy, Premala, Honey, Engela, Ekure, Ekanem N., Sokunbi, Ogochukwu J., Kalu, Nnenna, Jones, Kelly L., Kaplan, Julie D., Abdul‐Rahman, Omar A., Vincent, Lisa M., Love, Amber, Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Shukla, Anju, Girisha, Katta M., Patil, Siddaramappa J., Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Mishra, Rupesh, Klein‐Zighelboim, Eva, Gallardo Jugo, Bertha E., Chávez Pastor, Miguel, Abarca‐Barriga, Hugo H., Skinner, Steven A., Prijoles, Eloise J., Badoe, Eben, Gill, Ashleigh D., Shotelersuk, Vorasuk, Smpokou, Patroula, Kisling, Monisha S., Ferreira, Carlos R., Mutesa, Leon, Megarbane, Andre, Kline, Antonie D., Kimball, Amy, Okello, Emmy, Lwabi, Peter, Aliku, Twalib, Tenywa, Emmanuel, Boonchooduang, Nonglak, Tanpaiboon, Pranoot, Richieri‐Costa, Antonio, Wonkam, Ambroise, Chung, Brian H. Y., Stevenson, Roger E., Summar, Marshall, Mandal, Kausik, Phadke, Shubha R., Obregon, María G., Linguraru, Marius G., and Muenke, Maximilian

Published
2017
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45. Cover Image, Volume 173A, Number 9, September 2017

Author

Kruszka, Paul, Porras, Antonio R., Addissie, Yonit A., Moresco, Angélica, Medrano, Sofia, Mok, Gary T. K., Leung, Gordon K. C., Tekendo‐Ngongang, Cedrik, Uwineza, Annette, Thong, Meow‐Keong, Muthukumarasamy, Premala, Honey, Engela, Ekure, Ekanem N., Sokunbi, Ogochukwu J., Kalu, Nnenna, Jones, Kelly L., Kaplan, Julie D., Abdul‐Rahman, Omar A., Vincent, Lisa M., Love, Amber, Belhassan, Khadija, Ouldim, Karim, El Bouchikhi, Ihssane, Shukla, Anju, Girisha, Katta M., Patil, Siddaramappa J., Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, C. Sampath, Mishra, Rupesh, Klein‐Zighelboim, Eva, Gallardo Jugo, Bertha E., Chávez Pastor, Miguel, Abarca‐Barriga, Hugo H., Skinner, Steven A., Prijoles, Eloise J., Badoe, Eben, Gill, Ashleigh D., Shotelersuk, Vorasuk, Smpokou, Patroula, Kisling, Monisha S., Ferreira, Carlos R., Mutesa, Leon, Megarbane, Andre, Kline, Antonie D., Kimball, Amy, Okello, Emmy, Lwabi, Peter, Aliku, Twalib, Tenywa, Emmanuel, Boonchooduang, Nonglak, Tanpaiboon, Pranoot, Richieri‐Costa, Antonio, Wonkam, Ambroise, Chung, Brian H. Y., Stevenson, Roger E., Summar, Marshall, Mandal, Kausik, Phadke, Shubha R., Obregon, María G., Linguraru, Marius G., and Muenke, Maximilian

Published
2017
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46. Down syndrome in diverse populations

Author

Kruszka, Paul, Porras, Antonio R., Sobering, Andrew K., Ikolo, Felicia A., La Qua, Samantha, Shotelersuk, Vorasuk, Chung, Brian H. Y., Mok, Gary T. K., Uwineza, Annette, Mutesa, Leon, Moresco, Angélica, Obregon, María Gabriela, Sokunbi, Ogochukwu Jidechukwu, Kalu, Nnenna, Joseph, Daniel Akinsanya, Ikebudu, Desmond, Ugwu, Christopher Emeka, Okoromah, Christy A. N., Addissie, Yonit A., Pardo, Katherine L., Brough, Joseph J., Lee, Ni-Chung, Girisha, Katta M., Patil, Siddaramappa Jagdish, Ng, Ivy S. L., Min, Breana Cham Wen, Jamuar, Saumya S., Tibrewal, Shailja, Wallang, Batriti, Ganesh, Suma, Sirisena, Nirmala D., Dissanayake, Vajira H. W., Paththinige, Sampath C., Prabodha, Lahiru L. B., Richieri-Costa, Antonio, Muthukumarasamy, Premala, Thong, Meow-Keong, Jones, Kelly L., Abdul-Rahman, Omar A., Ekure, Ekanem Nsikak, Adeyemo, Adebowale A., Summar, Marshall, Linguraru, Marius George, and Muenke, Maximilian

Published
2017
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49. Correction to: Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot (Genetics in Medicine, (2021), 23, 10, (1952-1960), 10.1038/s41436-021-01212-y)

Author

Škorić-Milosavljević, Doris, Lahrouchi, Najim, Bosada, Fernanda M., Dombrowsky, Gregor, Williams, Simon G., Lesurf, Robert, Tjong, Fleur V. Y., Walsh, Roddy, el Bouchikhi, Ihssane, Breckpot, Jeroen, Audain, Enrique, Ilgun, Aho, Beekman, Leander, Ratbi, Ilham, Strong, Alanna, Muenke, Maximilian, Heide, Solveig, Muir, Alison M., Hababa, Mariam, Cross, Laura, Zhou, Dihong, Pastinen, Tomi, Hitz, Marc-Phillip, Abdul-Khaliq, Hashim, Berger, Felix, Dähnert, Ingo, Dittrich, Sven, Uebing, Anselm, Stiller, Brigitte, Zackai, Elaine, Atmani, Samir, Ouldim, Karim, Adadi, Najlae, Steindl, Katharina, Rauch, Anita, Brook, David, Wilsdon, Anna, Kuipers, Irene, Blom, Nico A., Mulder, Barbara J., Mefford, Heather C., Keren, Boris, Joset, Pascal, Kruszka, Paul, Thiffault, Isabelle, Lodder, Elisabeth M., Clur, Sally-Ann B., Christoffels, Vincent M., Postma, Alex V., Bezzina, Connie R., Cardiology, ACS - Heart failure & arrhythmias, Medical Biology, Amsterdam Cardiovascular Sciences, Paediatric Cardiology, APH - Methodology, APH - Quality of Care, APH - Aging & Later Life, APH - Personalized Medicine, Human Genetics, Amsterdam Reproduction & Development (AR&D), and ACS - Pulmonary hypertension & thrombosis

Abstract

Due to a processing error the author’s Doris Škorić-Milosavljević, Najim Lahrouchi, Alex V. Postma, Connie R. Bezzina were assigned to affiliation 38. However, affiliation 38 does not exist. In addition, the affiliations of Najim Lahrouchi, Elisabeth M. Lodder, and Connie R. Bezzina should be number 1 instead of number 2. The correct affiliation is Department of Clinical and Experimental Cardiology, Amsterdam University Medical Center, Amsterdam, The Netherlands. The original article has been corrected.

Published
2021

50. Muenke syndrome: An international multicenter natural history study

Author

Kruszka, Paul, Addissie, Yonit A., Yarnell, Colin M. P., Hadley, Donald W., Guillen Sacoto, Maria J., Platte, Petra, Paelecke, Yvonne, Collmann, Hartmut, Snow, Nicole, Schweitzer, Tilmann, Boyadjiev, Simeon A., Aravidis, Christos, Hall, Samantha E., Mulliken, John B., Roscioli, Tony, and Muenke, Maximilian

Published
2016
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