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ACMG STATEMENT Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) Matalon, Dena R.; Zepeda-Mendoza, Cinthya J.; Aarabi, Mahmoud; Brown, Kaitlyn; Fullerton, Stephanie M.; Kaur, Shagun; Quintero-Rivera, Fabiola; Vatta, Matteo Share Save
DNA methylation episignature for Witteveen-Kolk syndrome due to SIN3A haploinsufficiency Spek, Jet Coenen-van der; Relator, Raissa; Kerkhof, Jennifer; McConkey, Haley; Levy, Michael A.; Tedder, Matthew L.; Louie, Raymond J.; Fletcher, Robin S.; Moore, Hannah W.; Childers, Anna; Farrelly, Ellyn R.; Champaigne, Neena L.; Lyons, Michael J.; Everman, David B.; Rogers, R. Curtis; Skinner, Steven A.; Renck, Alicia; Matalon, Dena R.; Dills, Shelley K.; Monteleone, Berrin; Demirdas, Serwet; Dingemans, Alexander J. M.; Kaat, Laura Donker; Kolk, Sharon M.; Pfundt, Rolph; Rump, Patrick; Sadikovic, Bekim; Kleefstra, Tjitske; Butler, Kameryn M. Share Save
Loss-of-function variants in SRRM2 cause a neurodevelopmental disorder Cuinat, Silvestre; Nizon, Mathilde; Isidor, Bertrand; Stegmann, Alexander; van Jaarsveld, Richard H.; van Gassen, Koen L.; van der Smagt, Jasper J.; Volker-Touw, Catharina M. L.; Holwerda, Sjoerd J. B.; Terhal, Paulien A.; Schuhmann, Sarah; Vasileiou, Georgia; Khalifa, Mohamed; Nugud, Alaa A.; Yasaei, Hemad; Ousager, Lilian Bomme; Brasch-Andersen, Charlotte; Deb, Wallid; Besnard, Thomas; Simon, Marleen E. H.; Huijsdens-van Amsterdam, Karin; Verbeek, Nienke E.; Matalon, Dena; Dykzeul, Natalie; White, Shana; Spiteri, Elizabeth; Devriendt, Koen; Boogaerts, Anneleen; Willemsen, Marjolein; Brunner, Han G.; Sinnema, Margje; De Vries, Bert B. A.; Gerkes, Erica H.; Pfundt, Rolph; Izumi, Kosuke; Krantz, Ian D.; Xu, Zhou L.; Murrell, Jill R.; Valenzuela, Irene; Cusco, Ivon; Rovira-Moreno, Eulalia; Yang, Yaping; Bizaoui, Varoona; Patat, Olivier; Faivre, Laurence; Tran-Mau-Them, Frederic; Vitobello, Antonio; Denomme-Pichon, Anne-Sophie; Philippe, Christophe; Bezieau, Stephane; Cogne, Benjamin Share Save
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Progression of vertebral bone disease in mucopolysaccharidosis VII dogs from birth to skeletal maturity Peck, Sun H.; Lau, Yian Khai; Kang, Jennifer L.; Lin, Megan; Arginteanu, Toren; Matalon, Dena R.; Bendigo, Justin R.; O'Donnell, Patricia; Haskins, Mark E.; Casal, Margret L.; Smith, Lachlan J. Share Save
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De novo variants in SUPT16H cause neurodevelopmental disorders associated with corpus callosum abnormalities Bina, Roya; Matalon, Dena; Fregeau, Brieana; Tarsitano, Jacqueline Joani; Aukrust, Ingvild; Houge, Gunnar; Bend, Renee; Warren, Hannah; Stevenson, Roger E.; Stuurman, Kyra Eva; Barkovich, A. James; Sherr, Elliott H. Share Save
ClinPhen extracts and prioritizes patient phenotypes directly from medical records to expedite genetic disease diagnosis Deisseroth, Cole A.; Birgmeier, Johannes; Bodle, Ethan E.; Kohler, Jennefer N.; Matalon, Dena R.; Nazarenko, Yelena; Genetti, Casie A.; Brownstein, Catherine A.; Schmitz-Abe, Klaus; Schoch, Kelly; Cope, Heidi; Signer, Rebecca; Network, Undiagnosed Dis; Martinez-Agosto, Julian A.; Shashi, Vandana; Beggs, Alan H.; Wheeler, Matthew T.; Bernstein, Jonathan A.; Bejerano, Gill Share Save
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SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss Buchert, Rebecca; Nesbitt, Addie I.; Tawamie, Hasan; Krantz, Ian D.; Medne, Livija; Helbig, Ingo; Matalon, Dena R.; Reis, Andre; Santani, Avni; Sticht, Heinrich; Abou Jamra, Rami Share Save
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