Genetic testing in individuals with cerebral palsy
May, Halie J, Fasheun, Jennifer A, Bain, Jennifer M, Baugh, Evan H, Bier, Louise E, Revah‐Politi, Anya, Roye, David P, Goldstein, David B, Carmel, Jason B, Lippa, Natalie, Vena, Natalie, Kushary, Sulagna, Hyman, Joshua, Hewson, Barbara, Marboe, Charles, Anyane‐Yeboa, Kwame, Aggarwal, Vimla
Published in Developmental medicine and child neurology (01.12.2021)
Published in Developmental medicine and child neurology (01.12.2021)
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Journal Article
Cerebral Palsy Genetics: Who to Test?
May, Halie J., Fasheun, Jennifer A., Bain, Jennifer M., Baugh, Evan H., Bier, Louise E., Revah-Politi, Anya, Roye, David P., Goldstein, David B., Carmel, Jason B.
Published in Developmental medicine and child neurology (10.06.2021)
Published in Developmental medicine and child neurology (10.06.2021)
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Journal Article
De novo TRIM8 variants impair its protein localization to nuclear bodies and cause developmental delay, epilepsy, and focal segmental glomerulosclerosis
Weng, Patricia L., Majmundar, Amar J., Khan, Kamal, Lim, Tze Y., Shril, Shirlee, Jin, Gina, Musgrove, John, Wang, Minxian, Ahram, Dina F., Aggarwal, Vimla S., Bier, Louise E., Heinzen, Erin L., Onuchic-Whitford, Ana C., Mann, Nina, Buerger, Florian, Schneider, Ronen, Deutsch, Konstantin, Kitzler, Thomas M., Klämbt, Verena, Kolb, Amy, Mao, Youying, Moufawad El Achkar, Christelle, Mitrotti, Adele, Martino, Jeremiah, Beck, Bodo B., Altmüller, Janine, Benz, Marcus R., Yano, Shoji, Mikati, Mohamad A., Gunduz, Talha, Cope, Heidi, Shashi, Vandana, Trachtman, Howard, Bodria, Monica, Caridi, Gianluca, Pisani, Isabella, Fiaccadori, Enrico, AbuMaziad, Asmaa S., Martinez-Agosto, Julian A., Yadin, Ora, Zuckerman, Jonathan, Kim, Arang, John-Kroegel, Ulrike, Tyndall, Amanda V., Parboosingh, Jillian S., Innes, A. Micheil, Bierzynska, Agnieszka, Koziell, Ania B., Muorah, Mordi, Saleem, Moin A., Hoefele, Julia, Riedhammer, Korbinian M., Gharavi, Ali G., Jobanputra, Vaidehi, Pierce-Hoffman, Emma, Seaby, Eleanor G., O’Donnell-Luria, Anne, Rehm, Heidi L., Mane, Shrikant, D’Agati, Vivette D., Pollak, Martin R., Ghiggeri, Gian Marco, Lifton, Richard P., Goldstein, David B., Davis, Erica E., Hildebrandt, Friedhelm, Sanna-Cherchi, Simone
Published in American journal of human genetics (04.02.2021)
Published in American journal of human genetics (04.02.2021)
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