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Pena, Loren D.M.; Jiang, Yong-Hui; Schoch, Kelly; Spillmann, Rebecca C.; Walley, Nicole; Stong, Nicholas; Rapisardo Horn, Sarah; Sullivan, Jennifer A.; McConkie-Rosell, Allyn; Kansagra, Sujay; Smith, Edward C.; El-Dairi, Mays; Bellet, Jane; Keels, Martha Ann; Jasien, Joan; Kranz, Peter G.; Noel, Richard; Nagaraj, Shashi K.; Lark, Robert K.; Wechsler, Daniel S.G.; del Gaudio, Daniela; Leung, Marco L.; Hendon, Laura G.; Parker, Collette C.; [...]Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseasesView onlineSchließen
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Published in: Genetics in Medicine
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Wang, Julia; Al-Ouran, Rami; Hu, Yanhui; Kim, Seon-Young; Wan, Ying-Wooi; Wangler, Michael F.; Yamamoto, Shinya; Chao, Hsiao-Tuan; Comjean, Aram; Mohr, Stephanie E.; Perrimon, Norbert; Liu, Zhandong; Bellen, Hugo J.; Adams, Christopher J.; Adams, David R.; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mashid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Barseghyan, Hayk; Beggs, Alan H.; Bellen, Hugo J.; [...]MARRVEL: Integration of Human and Model Organism Genetic Resources to Facilitate Functional Annotation of the Human GenomeView onlineSchließen
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Published in: The American Journal of Human Genetics
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Schoch, Kelly; Meng, Linyan; Szelinger, Szabolcs; Bearden, David R.; Stray-Pedersen, Asbjorg; Busk, Oyvind L.; Stong, Nicholas; Liston, Eriskay; Cohn, Ronald D.; Scaglia, Fernando; Rosenfeld, Jill A.; Tarpinian, Jennifer; Skraban, Cara M.; Deardorff, Matthew A.; Friedman, Jeremy N.; Akdemir, Zeynep Coban; Walley, Nicole; Mikati, Mohamad A.; Kranz, Peter G.; Jasien, Joan; McConkie-Rosell, Allyn; McDonald, Marie; Wechsler, Stephanie Burns; Freemark, Michael; [...]A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental DelayView onlineSchließen
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Published in: The American Journal of Human Genetics
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Chao, Hsiao-Tuan; Davids, Mariska; Burke, Elizabeth; Pappas, John G.; Rosenfeld, Jill A.; McCarty, Alexandra J.; Davis, Taylor; Wolfe, Lynne; Toro, Camilo; Tifft, Cynthia; Xia, Fan; Stong, Nicholas; Johnson, Travis K.; Warr, Coral G.; Yamamoto, Shinya; Adams, David R.; Markello, Thomas C.; Gahl, William A.; Bellen, Hugo J.; Wangler, Michael F.; Malicdan, May Christine V.; Adams, David R.; Adams, Christopher J.; Alejandro, Mercedes E.; [...]A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3View onlineSchließen
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Published in: The American Journal of Human Genetics
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Ramoni, Rachel B.; Mulvihill, John J.; Adams, David R.; Allard, Patrick; Ashley, Euan A.; Bernstein, Jonathan A.; Gahl, William A.; Hamid, Rizwan; Loscalzo, Joseph; McCray, Alexa T.; Shashi, Vandana; Tifft, Cynthia J.; Wise, Anastasia L.; Adams, David R.; Adams, Christopher J.; Alejandro, Mercedes E.; Allard, Patrick; Ashley, Euan A.; Azamian, Mashid S.; Bacino, Carlos A.; Balasubramanyam, Ashok; Barseghyan, Hayk; Beggs, Alan H.; Bellen, Hugo J.; [...]The Undiagnosed Diseases Network: Accelerating Discovery about Health and DiseaseView onlineSchließen
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Published in: The American Journal of Human Genetics
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Shashi, Vandana; Pena, Loren D.M.; Kim, Katherine; Burton, Barbara; Hempel, Maja; Schoch, Kelly; Walkiewicz, Magdalena; McLaughlin, Heather M.; Cho, Megan; Stong, Nicholas; Hickey, Scott E.; Shuss, Christine M.; Freemark, Michael S.; Bellet, Jane S.; Keels, Martha Ann; Bonner, Melanie J.; El-Dairi, Maysantoine; Butler, Megan; Kranz, Peter G.; Stumpel, Constance T.R.M.; Klinkenberg, Sylvia; Oberndorff, Karin; Alawi, Malik; Santer, Rene; [...]De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical PhenotypeView onlineSchließen
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Published in: The American Journal of Human Genetics