A Syndromic Intellectual Disability Disorder Caused by Variants in TELO2, a Gene Encoding a Component of the TTT Complex
You, Jing, Sobreira, Nara L., Gable, Dustin L., Jurgens, Julie, Grange, Dorothy K., Belnap, Newell, Siniard, Ashley, Szelinger, Szabolcs, Schrauwen, Isabelle, Richholt, Ryan F., Vallee, Stephanie E., Dinulos, Mary Beth P., Valle, David, Armanios, Mary, Hoover-Fong, Julie
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
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Associations of MAP2K3 Gene Variants With Superior Memory in SuperAgers
Huentelman, Matthew J, Piras, Ignazio S, Siniard, Ashley L, De Both, Matthew D, Richholt, Ryan F, Balak, Chris D, Jamshidi, Pouya, Bigio, Eileen H, Weintraub, Sandra, Loyer, Emmaleigh T, Mesulam, M-Marsel, Geula, Changiz, Rogalski, Emily J
Published in Frontiers in aging neuroscience (29.05.2018)
Published in Frontiers in aging neuroscience (29.05.2018)
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Analytic validation and clinical utilization of the comprehensive genomic profiling test, GEM ExTra
White, Tracey, Szelinger, Szabolcs, LoBello, Janine, King, Amy, Aldrich, Jessica, Garinger, Nathan, Halbert, Matthew, Richholt, Ryan F, Mastrian, Stephen D, Babb, Cody, Ozols, Audrey A, Goodman, Laurie J, Basu, Gargi D, Royce, Thomas
Published in Oncotarget (13.04.2021)
Published in Oncotarget (13.04.2021)
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Exploring genome-wide DNA methylation patterns in Aicardi syndrome
Piras, Ignazio S, Mills, Gabrielle, Llaci, Lorida, Naymik, Marcus, Ramsey, Keri, Belnap, Newell, Balak, Chris D, Jepsen, Wayne M, Szelinger, Szabolcs, Siniard, Ashley L, Lewis, Candace R, LaFleur, Madison, Richholt, Ryan F, De Both, Matt D, Avela, Kristiina, Rangasamy, Sampathkumar, Craig, David W, Narayanan, Vinodh, Järvelä, Irma, Huentelman, Matthew J, Schrauwen, Isabelle
Published in Epigenomics (01.11.2017)
Published in Epigenomics (01.11.2017)
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A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia
Moskowitz, Abby M, Belnap, Newell, Siniard, Ashley L, Szelinger, Szabolcs, Claasen, Ana M, Richholt, Ryan F, De Both, Matt, Corneveaux, Jason J, Balak, Chris, Piras, Ignazio S, Russell, Megan, Courtright, Amanda L, Rangasamy, Sampath, Ramsey, Keri, Craig, David W, Narayanan, Vinodh, Huentelman, Matt J, Schrauwen, Isabelle
Published in Cold Spring Harbor molecular case studies (01.09.2016)
Published in Cold Spring Harbor molecular case studies (01.09.2016)
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