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Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort (vol 24, pg 1753, 2022) van der Sluijs, Pleuntje J.; Joosten, Marieke; Alby, Caroline; Attie-Bitach, Tania; Gilmore, Kelly; Dubourg, Christele; Fradin, Melanie; Wang, Tianyun; Kurtz-Nelson, Evangeline C.; Ahlers, Kaitlyn P.; Arts, Peer; Barnett, Christopher P.; Ashfaq, Myla; Baban, Anwar; van den Born, Myrthe; Borrie, Sarah; Busa, Tiffany; Byrne, Alicia; Carriero, Miriam; Cesario, Claudia; Chong, Karen; Cueto-Gonzalez, Anna Maria; Dempsey, Jennifer C.; Diderich, Karin E. M.; Doherty, Dan; Farholt, Stense; Gerkes, Erica H.; Gorokhova, Svetlana; Govaerts, Lutgarde C. P.; Gregersen, Pernille A.; Hickey, Scott E.; Lefebvre, Mathilde; Mari, Francesca; Martinovic, Jelena; Northrup, Hope; O'Leary, Melanie; Parbhoo, Kareesma; Patrier, Sophie; Popp, Bernt; Santos-Simarro, Fernando; Stoltenburg, Corinna; Thauvin-Robinet, Christel; Thompson, Elisabeth; Vulto-van Silfhout, Anneke T.; Zahir, Farah R.; Scott, Hamish S.; Earl, Rachel K.; Eichler, Evan E.; Vora, Neeta L.; Wilnai, Yael; Giordano, Jessica L.; Wapner, Ronald J.; Rosenfeld, Jill A.; Haak, Monique C.; Santen, Gijs W. E. Share Save
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MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis Mak, Christopher C. Y.; Doherty, Dan; Lin, Angela E.; Vegas, Nancy; Cho, Megan T.; Viot, Geraldine; Dimartino, Clemantine; Weisfeld-Adams, James D.; Lessel, Davor; Joss, Shelagh; Li, Chumei; Gonzaga-Jauregui, Claudia; Zarate, Yuri A.; Ehmke, Nadja; Horn, Denise; Troyer, Caitlin; Kant, Sarina G.; Lee, Youngha; Ishak, Gisele E.; Leung, Gordon; Pritchard, Amanda Barone; Yang, Sandra; Bend, Eric G.; Filippini, Francesca; Roadhouse, Chelsea; Lebrun, Nicolas; Mehaffey, Michele G.; Martin, Pierre-Marie; Apple, Benjamin; Millan, Francisca; Puk, Oliver; Hoffer, Mariette J. V.; Henderson, Lindsay B.; McGowan, Ruth; Wentzensen, Ingrid M.; Pei, Steven; Zahir, Farah R.; Yu, Mullin; Gibson, William T.; Seman, Ann; Steeves, Marcie; Murrell, Jill R.; Luettgen, Sabine; Francisco, Elizabeth; Strom, Tim M.; Amlie-Wolf, Louise; Kaindl, Angela M.; Wilson, William G.; Halbach, Sara; Basel-Salmon, Lina; Lev-El, Noa; Denecke, Jonas; Vissers, Lisenka E. L. M.; Radtke, Kelly; Chelly, Jamel; Zackai, Elaine; Friedman, Jan M.; Bamshad, Michael J.; Nickerson, Deborah A.; Reid, Russell R.; Devriendt, Koenraad; Chae, Jong-Hee; Stolerman, Elliot; McDougall, Carey; Powis, Zoe; Bienvenu, Thierry; Tan, Tiong Y.; Orenstein, Naama; Dobyns, William B.; Shieh, Joseph T.; Choi, Murim; Waggoner, Darrel; Gripp, Karen W.; Parker, Michael J.; Stoler, Joan; Lyonnet, Stanislas; Cormier-Daire, Valerie; Viskochil, David; Hoffman, Trevor L.; Amiel, Jeanne; Chung, Brian H. Y.; Gordon, Christopher T. Share Save
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder Cuvertino, Sara; Stuart, Helen M.; Chandler, Kate E.; Roberts, Neil A.; Armstrong, Ruth; Bernardini, Laura; Bhaskar, Sanjeev; Callewaert, Bert; Clayton-Smith, Jill; Hernando Davalillo, Cristina; Deshpande, Charu; Devriendt, Koenraad; Digilio, Maria C.; Dixit, Abhijit; Edwards, Matthew; Friedman, Jan M.; Gonzalez-Meneses, Antonio; Joss, Shelagh; Kerr, Bronwyn; Lampe, Anne Katrin; Langlois, Sylvie; Lennon, Rachel; Loget, Philippe; Ma, David Y. T.; McGowan, Ruth; Des Medt, Maryse; O'Sullivan, James; Odent, Sylvie; Parker, Michael J.; Pebrel-Richard, Celine; Petit, Florence; Stark, Zornitza; Stockler-Ipsiroglu, Sylvia; Tinschert, Sigrid; Vasudevan, Pradeep; Villa, Olaya; White, Susan M.; Zahir, Farah R.; Woolf, Adrian S.; Banka, Siddharth Share Save
Comprehensive whole genome sequence analyses yields novel genetic and structural insights for Intellectual Disability Zahir, Farah R.; Mwenifumbo, Jill C.; Chun, Hye-Jung E.; Lim, Emilia L.; Van Karnebeek, Clara D. M.; Couse, Madeline; Mungall, Karen L.; Lee, Leora; Makela, Nancy; Armstrong, Linlea; Boerkoel, Cornelius F.; Langlois, Sylvie L.; McGillivray, Barbara M.; Jones, Steven J. M.; Friedman, Jan M.; Marra, Marco A. Share Save
Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway Enns, Gregory M.; Shashi, Vandana; Bainbridge, Matthew; Gambello, Michael J.; Zahir, Farah R.; Bast, Thomas; Crimian, Rebecca; Schoch, Kelly; Platt, Julia; Cox, Rachel; Bernstein, Jonathan A.; Scavina, Mena; Walter, Rhonda S.; Bibb, Audrey; Jones, Melanie; Hegde, Madhuri; Graham, Brett H.; Need, Anna C.; Oviedo, Angelica; Schaaf, Christian P.; Boyle, Sean; Butte, Atul J.; Chen, Rong; Clark, Michael J.; Haraksingh, Rajini; Cowan, Tina M.; He, Ping; Langlois, Svlvie; Zoghbi, Huda Y.; Snyder, Michael; Gibbs, Richard A.; Freeze, Hudson H.; Goldstein, David B. Share Save
Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes Tucker, Tracy; Zahir, Farah R.; Griffith, Malachi; Delaney, Allen; Chai, David; Tsang, Erica; Lemyre, Emmanuelle; Dobrzeniecka, Sylvia; Marra, Marco; Eydoux, Patrice; Langlois, Sylvie; Hamdan, Fadi F.; Michaud, Jacques L.; Friedman, Jan M. Share Save
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Duplications of the critical Rubinstein-Taybi deletion region on chromosome 16p13.3 cause a novel recognisable syndrome Thienpont, Bernard; Bena, Frederique; Breckpot, Jeroen; Philip, Nicole; Menten, Bjorn; Van Esch, Hilde; Scalais, Emmanuel; Salamone, Jessica M.; Fong, Chin-To; Kussmann, Jennifer L.; Grange, Dorothy K.; Gorski, Jerome L.; Zahir, Farah; Yong, Siu Li; Morris, Michael M.; Gimelli, Stefania; Fryns, Jean-Pierre; Mortier, Geert; Friedman, Jan M.; Villard, Laurent; Bottani, Armand; Vermeesch, Joris R.; Cheung, Sau Wai; Devriendt, Koen Share Save
Detection of pathogenic copy number variants in children with idiopathic intellectual disability using 500 K SNP array genomic hybridization Friedman, J. M.; Adam, Shelin; Arbour, Laura; Armstrong, Linlea; Baross, Agnes; Birch, Patricia; Boerkoel, Cornelius; Chan, Susanna; Chai, David; Delaney, Allen D.; Flibotte, Stephane; Gibson, William T.; Langlois, Sylvie; Lemyre, Emmanuelle; Li, H. Irene; MacLeod, Patrick; Mathers, Joan; Michaud, Jacques L.; McGillivray, Barbara C.; Patel, Millan S.; Qian, Hong; Rouleau, Guy A.; Van Allen, Margot I.; Yong, Siu-Li; Zahir, Farah R.; Eydoux, Patrice; Marra, Marco A. Share Save
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Novel deletions of 14q11.2 associated with developmental delay, cognitive impairment and similar minor anomalies in three children Zahir, Farah; Firth, Helen V.; Baross, Agnes; Delaney, Allen D.; Eydoux, Patrice; Gibson, William T.; Langlois, Sylvie; Martin, Howard; Willatt, Lionel; Marra, Marco A.; Friedman, Jan M. Share Save
Osteopoikilosis, short stature and mental retardation as key features of a new microdeletion syndrome on 12q14 Menten, Bjorn; Buysse, Karen; Zahir, Farah; Hellemans, Jan; Hamilton, Sara J.; Costa, Teresa; Fagerstrom, Carrie; Anadiotis, George; Kingsbury, Daniel; McGillivray, Barbara C.; Marra, Marco A.; Friedman, Jan M.; Speleman, Frank; Mortier, Geert Share Save
Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation Friedman, J. M.; Baross, Agnes; Delaney, Allen D.; Ally, Adrian; Arbour, Laura; Asano, Jennifer; Bailey, Dione K.; Barber, Sarah; Birch, Patricia; Brown-John, Mabel; Cao, Manqiu; Chan, Susanna; Charest, David L.; Farnoud, Noushin; Fernandes, Nicole; Flibotte, Stephane; Go, Anne; Gibson, William T.; Holt, Robert A.; Jones, Steven J. M.; Kennedy, Giulia C.; Krzywinski, Martin; Langlois, Sylvie; Li, Haiyan I.; McGillivray, Barbara C.; Nayar, Tarun; Pugh, Trevor J.; Rajcan-Separovic, Evica; Schein, Jacqueline E.; Schnerch, Angelique; Siddiqui, Asim; Van Allen, Margot I.; Wilson, Gary; Yong, Siu-Li; Zahir, Farah; Eydoux, Patrice; Marra, Marco A. Share Save
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