A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders
Jacquemont, Sébastien, Coe, Bradley P., Hersch, Micha, Duyzend, Michael H., Krumm, Niklas, Bergmann, Sven, Beckmann, Jacques S., Rosenfeld, Jill A., Eichler, Evan E.
Published in American journal of human genetics (06.03.2014)
Published in American journal of human genetics (06.03.2014)
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Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication
Dennis, Megan Y., Nuttle, Xander, Sudmant, Peter H., Antonacci, Francesca, Graves, Tina A., Nefedov, Mikhail, Rosenfeld, Jill A., Sajjadian, Saba, Malig, Maika, Kotkiewicz, Holland, Curry, Cynthia J., Shafer, Susan, Shaffer, Lisa G., de Jong, Pieter J., Wilson, Richard K., Eichler, Evan E.
Published in Cell (11.05.2012)
Published in Cell (11.05.2012)
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Disruptive CHD8 Mutations Define a Subtype of Autism Early in Development
Bernier, Raphael, Golzio, Christelle, Xiong, Bo, Stessman, Holly A., Coe, Bradley P., Penn, Osnat, Witherspoon, Kali, Gerdts, Jennifer, Baker, Carl, Vulto-van Silfhout, Anneke T., Schuurs-Hoeijmakers, Janneke H., Fichera, Marco, Bosco, Paolo, Buono, Serafino, Alberti, Antonino, Failla, Pinella, Peeters, Hilde, Steyaert, Jean, Vissers, Lisenka E.L.M., Francescatto, Ludmila, Mefford, Heather C., Rosenfeld, Jill A., Bakken, Trygve, O’Roak, Brian J., Pawlus, Matthew, Moon, Randall, Shendure, Jay, Amaral, David G., Lein, Ed, Rankin, Julia, Romano, Corrado, de Vries, Bert B.A., Katsanis, Nicholas, Eichler, Evan E.
Published in Cell (17.07.2014)
Published in Cell (17.07.2014)
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Journal Article
Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation
Posey, Jennifer E, Harel, Tamar, Liu, Pengfei, Rosenfeld, Jill A, James, Regis A, Coban Akdemir, Zeynep H, Walkiewicz, Magdalena, Bi, Weimin, Xiao, Rui, Ding, Yan, Xia, Fan, Beaudet, Arthur L, Muzny, Donna M, Gibbs, Richard A, Boerwinkle, Eric, Eng, Christine M, Sutton, V. Reid, Shaw, Chad A, Plon, Sharon E, Yang, Yaping, Lupski, James R
Published in The New England journal of medicine (05.01.2017)
Published in The New England journal of medicine (05.01.2017)
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USP7 Acts as a Molecular Rheostat to Promote WASH-Dependent Endosomal Protein Recycling and Is Mutated in a Human Neurodevelopmental Disorder
Hao, Yi-Heng, Fountain, Michael D., Fon Tacer, Klementina, Xia, Fan, Bi, Weimin, Kang, Sung-Hae L., Patel, Ankita, Rosenfeld, Jill A., Le Caignec, Cédric, Isidor, Bertrand, Krantz, Ian D., Noon, Sarah E., Pfotenhauer, Jean P., Morgan, Thomas M., Moran, Rocio, Pedersen, Robert C., Saenz, Margarita S., Schaaf, Christian P., Potts, Patrick Ryan
Published in Molecular cell (17.09.2015)
Published in Molecular cell (17.09.2015)
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What Has the Undiagnosed Diseases Network Taught Us About the Clinical Applications of Genomic Testing?
Murdock, David R, Rosenfeld, Jill A, Lee, Brendan
Published in Annual review of medicine (27.01.2022)
Published in Annual review of medicine (27.01.2022)
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Journal Article
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing
Murdock, David R, Dai, Hongzheng, Burrage, Lindsay C, Rosenfeld, Jill A, Ketkar, Shamika, Müller, Michaela F, Yépez, Vicente A, Gagneur, Julien, Liu, Pengfei, Chen, Shan, Jain, Mahim, Zapata, Gladys, Bacino, Carlos A, Chao, Hsiao-Tuan, Moretti, Paolo, Craigen, William J, Hanchard, Neil A, Lee, Brendan
Published in The Journal of clinical investigation (04.01.2021)
Published in The Journal of clinical investigation (04.01.2021)
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Estimates of penetrance for recurrent pathogenic copy-number variations
Rosenfeld, Jill A., Coe, Bradley P., Eichler, Evan E., Cuckle, Howard, Shaffer, Lisa G.
Published in Genetics in medicine (01.06.2013)
Published in Genetics in medicine (01.06.2013)
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Journal Article
Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries
Talkowski, Michael E., Rosenfeld, Jill A., Blumenthal, Ian, Pillalamarri, Vamsee, Chiang, Colby, Heilbut, Adrian, Ernst, Carl, Hanscom, Carrie, Rossin, Elizabeth, Lindgren, Amelia M., Pereira, Shahrin, Ruderfer, Douglas, Kirby, Andrew, Ripke, Stephan, Harris, David J., Lee, Ji-Hyun, Ha, Kyungsoo, Kim, Hyung-Goo, Solomon, Benjamin D., Gropman, Andrea L., Lucente, Diane, Sims, Katherine, Ohsumi, Toshiro K., Borowsky, Mark L., Loranger, Stephanie, Quade, Bradley, Lage, Kasper, Miles, Judith, Wu, Bai-Lin, Shen, Yiping, Neale, Benjamin, Shaffer, Lisa G., Daly, Mark J., Morton, Cynthia C., Gusella, James F.
Published in Cell (27.04.2012)
Published in Cell (27.04.2012)
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Clinically severe CACNA1A alleles affect synaptic function and neurodegeneration differentially
Luo, Xi, Rosenfeld, Jill A, Yamamoto, Shinya, Harel, Tamar, Zuo, Zhongyuan, Hall, Melissa, Wierenga, Klaas J, Pastore, Matthew T, Bartholomew, Dennis, Delgado, Mauricio R, Rotenberg, Joshua, Lewis, Richard Alan, Emrick, Lisa, Bacino, Carlos A, Eldomery, Mohammad K, Coban Akdemir, Zeynep, Xia, Fan, Yang, Yaping, Lalani, Seema R, Lotze, Timothy, Lupski, James R, Lee, Brendan, Bellen, Hugo J, Wangler, Michael F
Published in PLoS genetics (24.07.2017)
Published in PLoS genetics (24.07.2017)
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A copy number variation morbidity map of developmental delay
Hamid, Rizwan, Baker, Carl, McCracken, Elizabeth, Stalker, Heather, Eichler, Evan E, Hummel, Marybeth, Ballif, Blake C, Coe, Bradley P, Bader, Patricia, Girirajan, Santhosh, Kussmann, Jennifer, Rosenfeld, Jill A, Cooper, Gregory M, Shashi, Vandana, Abdel-Hamid, Hoda, Williams, Charles, Leppig, Kathleen, Alexander, Nora, Gorski, Jerome, Niyazov, Dmitriy, Hannig, Vickie, Rehder, Catherine, Shaffer, Lisa G, Johnson, Krys, Thiese, Heidi, Vu, Tiffany H
Published in Nature genetics (01.09.2011)
Published in Nature genetics (01.09.2011)
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SCRIB and PUF60 Are Primary Drivers of the Multisystemic Phenotypes of the 8q24.3 Copy-Number Variant
Dauber, Andrew, Golzio, Christelle, Guenot, Cécile, Jodelka, Francine M., Kibaek, Maria, Kjaergaard, Susanne, Leheup, Bruno, Martinet, Danielle, Nowaczyk, Malgorzata J.M., Rosenfeld, Jill A., Zeesman, Susan, Zunich, Janice, Beckmann, Jacques S., Hirschhorn, Joel N., Hastings, Michelle L., Jacquemont, Sebastien, Katsanis, Nicholas
Published in American journal of human genetics (07.11.2013)
Published in American journal of human genetics (07.11.2013)
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Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue
Sharma, Richa, Sahoo, Sushree S., Honda, Masayoshi, Granger, Sophie L., Goodings, Charnise, Sanchez, Louis, Künstner, Axel, Busch, Hauke, Beier, Fabian, Pruett-Miller, Shondra M., Valentine, Marcus B., Fernandez, Alfonso G., Chang, Ti-Cheng, Géli, Vincent, Churikov, Dmitri, Hirschi, Sandrine, Pastor, Victor B., Boerries, Melanie, Lauten, Melchior, Kelaidi, Charikleia, Cooper, Megan A., Nicholas, Sarah, Rosenfeld, Jill A., Polychronopoulou, Sophia, Kannengiesser, Caroline, Saintomé, Carole, Niemeyer, Charlotte M., Revy, Patrick, Wold, Marc S., Spies, Maria, Erlacher, Miriam, Coulon, Stéphane, Wlodarski, Marcin W.
Published in Blood (17.02.2022)
Published in Blood (17.02.2022)
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Integrative analysis of transcriptome dynamics during human craniofacial development identifies candidate disease genes
Yankee, Tara N., Oh, Sungryong, Winchester, Emma Wentworth, Wilderman, Andrea, Robinson, Kelsey, Gordon, Tia, Rosenfeld, Jill A., VanOudenhove, Jennifer, Scott, Daryl A., Leslie, Elizabeth J., Cotney, Justin
Published in Nature communications (02.08.2023)
Published in Nature communications (02.08.2023)
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Heterozygous Truncating Variants in POMP Escape Nonsense-Mediated Decay and Cause a Unique Immune Dysregulatory Syndrome
Poli, M. Cecilia, Ebstein, Frédéric, Nicholas, Sarah K., de Guzman, Marietta M., Forbes, Lisa R., Chinn, Ivan K., Mace, Emily M., Vogel, Tiphanie P., Carisey, Alexandre F., Benavides, Felipe, Coban-Akdemir, Zeynep H., Gibbs, Richard A., Jhangiani, Shalini N., Muzny, Donna M., Carvalho, Claudia M.B., Schady, Deborah A., Jain, Mahim, Rosenfeld, Jill A., Emrick, Lisa, Lewis, Richard A., Lee, Brendan, Zieba, Barbara A., Küry, Sébastien, Krüger, Elke, Lupski, James R., Bostwick, Bret L., Orange, Jordan S.
Published in American journal of human genetics (07.06.2018)
Published in American journal of human genetics (07.06.2018)
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De Novo Mutations in CHD4, an ATP-Dependent Chromatin Remodeler Gene, Cause an Intellectual Disability Syndrome with Distinctive Dysmorphisms
Weiss, Karin, Terhal, Paulien A., Cohen, Lior, Bruccoleri, Michael, Irving, Melita, Martinez, Ariel F., Rosenfeld, Jill A., Machol, Keren, Yang, Yaping, Liu, Pengfei, Walkiewicz, Magdalena, Beuten, Joke, Gomez-Ospina, Natalia, Haude, Katrina, Fong, Chin-To, Enns, Gregory M., Bernstein, Jonathan A., Fan, Judith, Gotway, Garrett, Ghorbani, Mohammad, van Gassen, Koen, Monroe, Glen R., van Haaften, Gijs, Basel-Vanagaite, Lina, Yang, Xiang-Jiao, Campeau, Philippe M., Muenke, Maximilian
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
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Clinical exome sequencing data reveal high diagnostic yields for congenital diaphragmatic hernia plus (CDH+) and new phenotypic expansions involving CDH
Scott, Tiana M, Campbell, Ian M, Hernandez-Garcia, Andres, Lalani, Seema R, Liu, Pengfei, Shaw, Chad A, Rosenfeld, Jill A, Scott, Daryl A
Published in Journal of medical genetics (01.03.2022)
Published in Journal of medical genetics (01.03.2022)
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BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms
Barish, Scott, Barakat, Tahsin Stefan, Michel, Brittany C., Mashtalir, Nazar, Phillips, Jennifer B., Valencia, Alfredo M., Ugur, Berrak, Wegner, Jeremy, Scott, Tiana M., Bostwick, Brett, Murdock, David R., Dai, Hongzheng, Perenthaler, Elena, Nikoncuk, Anita, van Slegtenhorst, Marjon, Brooks, Alice S., Keren, Boris, Nava, Caroline, Mignot, Cyril, Douglas, Jessica, Rodan, Lance, Nowak, Catherine, Ellard, Sian, Stals, Karen, Lynch, Sally Ann, Faoucher, Marie, Lesca, Gaetan, Edery, Patrick, Engleman, Kendra L., Zhou, Dihong, Thiffault, Isabelle, Herriges, John, Gass, Jennifer, Louie, Raymond J., Stolerman, Elliot, Washington, Camerun, Vetrini, Francesco, Otsubo, Aiko, Pratt, Victoria M., Conboy, Erin, Treat, Kayla, Shannon, Nora, Camacho, Jose, Wakeling, Emma, Yuan, Bo, Chen, Chun-An, Rosenfeld, Jill A., Westerfield, Monte, Wangler, Michael, Yamamoto, Shinya, Kadoch, Cigall, Scott, Daryl A., Bellen, Hugo J.
Published in American journal of human genetics (03.12.2020)
Published in American journal of human genetics (03.12.2020)
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Loss- or Gain-of-Function Mutations in ACOX1 Cause Axonal Loss via Different Mechanisms
Chung, Hyung-lok, Wangler, Michael F., Marcogliese, Paul C., Jo, Juyeon, Ravenscroft, Thomas A., Zuo, Zhongyuan, Duraine, Lita, Sadeghzadeh, Sina, Li-Kroeger, David, Schmidt, Robert E., Pestronk, Alan, Rosenfeld, Jill A., Burrage, Lindsay, Herndon, Mitchell J., Chen, Shan, Shillington, Amelle, Vawter-Lee, Marissa, Hopkin, Robert, Rodriguez-Smith, Jackeline, Henrickson, Michael, Lee, Brendan, Moser, Ann B., Jones, Richard O., Watkins, Paul, Yoo, Taekyeong, Mar, Soe, Choi, Murim, Bucelli, Robert C., Yamamoto, Shinya, Lee, Hyun Kyoung, Prada, Carlos E., Chae, Jong-Hee, Vogel, Tiphanie P., Bellen, Hugo J.
Published in Neuron (Cambridge, Mass.) (20.05.2020)
Published in Neuron (Cambridge, Mass.) (20.05.2020)
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