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Academic Journal
Soldatos, Ariane; Nutman, Thomas B; Johnson, Tory; Dowell, Scott F; Sejvar, James J; Wilson, Michael R; DeRisi, Joseph L; Inati, Sara K; Groden, Catherine; Evans, Colleen; O'Connell, Elise M; Toliva, Bernard Opar; Aceng, Jane R; Aryek-Kwe, Josephine; Toro, Camilo; Stratakis, Constantine A; Buckler, A Gretchen; Cantilena, Cathy; Palmore, Tara N; Thurm, Audrey; Baker, Eva H; Chang, Richard; Fauni, Harper; Adams, David; Macnamara, Ellen F; Lau, C Christopher; Malicdan, May Christine V; Pusey-Swerdzewski, Barbara; Downing, Robert; Bunga, Sudhir; Thomas, Jerry D; Gahl, William A; Nath, Avindra
Brain. 146(3)
Academic Journal
Morimoto, Marie; Bhambhani, Vikas; Gazzaz, Nour; Davids, Mariska; Sathiyaseelan, Paalini; Macnamara, Ellen F; Lange, Jennifer; Lehman, Anna; Zerfas, Patricia M; Murphy, Jennifer L; Acosta, Maria T; Wang, Camille; Alderman, Emily; Reichert, Sara; Thurm, Audrey; Adams, David R; Introne, Wendy J; Gorski, Sharon M; Boerkoel, Cornelius F; Gahl, William A; Tifft, Cynthia J; Malicdan, May Christine V
npj Genomic Medicine. 8(1)
Academic Journal
Ferdinandusse, Sacha; McWalter, Kirsty; Te Brinke, Heleen; IJlst, Lodewijk; Mooijer, Petra M; Ruiter, Jos PN; van Lint, Alida EM; Pras-Raves, Mia; Wever, Eric; Millan, Francisca; Guillen Sacoto, Maria J; Begtrup, Amber; Tarnopolsky, Mark; Brady, Lauren; Ladda, Roger L; Sell, Susan L; Nowak, Catherine B; Douglas, Jessica; Tian, Cuixia; Ulm, Elizabeth; Perlman, Seth; Drack, Arlene V; Chong, Karen; Martin, Nicole; Brault, Jennifer; Brokamp, Elly; Toro, Camilo; Gahl, William A; Macnamara, Ellen F; Wolfe, Lynne; Undiagnosed Diseases Network; Waisfisz, Quinten; Zwijnenburg, Petra JG; Ziegler, Alban; Barth, Magalie; Smith, Rosemarie; Ellingwood, Sara; Gaebler-Spira, Deborah; Bakhtiari, Somayeh; Kruer, Michael C; van Kampen, Antoine HC; Wanders, Ronald JA; Waterham, Hans R; Cassiman, David; Vaz, Frédéric M
Genetics in medicine : official journal of the American College of Medical Genetics. 23(4)
Kilquist syndrome: A novel syndromic hearing loss disorder caused by homozygous deletion of SLC12A2.
Academic Journal
Macnamara, Ellen F; Koehler, Alanna E; D'Souza, Precilla; Estwick, Tyra; Lee, Paul; Vezina, Gilbert; Undiagnosed Diseases Network; Fauni, Harper; Braddock, Stephen R; Torti, Erin; Holt, James Matthew; Sharma, Prashant; Malicdan, May Christine V; Tifft, Cynthia J
Human mutation. 40(5)
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[AR] Macnamara, Ellen F
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