Truncating variants in the SHANK1 gene are associated with a spectrum of neurodevelopmental disorders
May, Halie J., Jeong, Jaehoon, Revah-Politi, Anya, Cohen, Julie S., Chassevent, Anna, Baptista, Julia, Baugh, Evan H., Bier, Louise, Bottani, Armand, Te Carminho A. Rodrigues, Maria resa, Conlon, Charles, Fluss, Joel, Guipponi, Michel, Kim, Chong Ae, Matsumoto, Naomichi, Person, Richard, Primiano, Michelle, Rankin, Julia, Shinawi, Marwan, Smith-Hicks, Constance, Telegrafi, Aida, Toy, Samantha, Uchiyama, Yuri, Aggarwal, Vimla, Goldstein, David B., Roche, Katherine W., Anyane-Yeboa, Kwame
Published in Genetics in medicine (01.10.2021)
Published in Genetics in medicine (01.10.2021)
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Journal Article
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
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy
Mattison, Kari A, Tossing, Gilles, Mulroe, Fred, Simmons, Callum, Butler, Kameryn M, Schreiber, Alison, Alsadah, Adnan, Neilson, Derek E, Naess, Karin, Wedell, Anna, Wredenberg, Anna, Sorlin, Arthur, McCann, Emma, Burghel, George J, Menendez, Beatriz, Hoganson, George E, Botto, Lorenzo D, Filloux, Francis M, Aledo-Serrano, Ángel, Gil-Nagel, Antonio, Tatton-Brown, Katrina, Verbeek, Nienke E, van der Zwaag, Bert, Aleck, Kyrieckos A, Fazenbaker, Andrew C, Balciuniene, Jorune, Dubbs, Holly A, Marsh, Eric D, Garber, Kathryn, Ek, Jakob, Duno, Morten, Hoei-Hansen, Christina E, Deardorff, Matthew A, Raca, Gordana, Quindipan, Catherine, van Hirtum-Das, Michele, Breckpot, Jeroen, Hammer, Trine Bjørg, Møller, Rikke S, Whitney, Andrea, Douglas, Andrew G L, Kharbanda, Mira, Brunetti-Pierri, Nicola, Morleo, Manuela, Nigro, Vincenzo, May, Halie J, Tao, James X, Argilli, Emanuela, Sherr, Elliot H, Dobyns, William B, Baines, Richard A, Warwicker, Jim, Parker, J Alex, Banka, Siddharth, Campeau, Philippe M, Escayg, Andrew
Published in Brain (London, England : 1878) (19.04.2023)
Published in Brain (London, England : 1878) (19.04.2023)
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Journal Article
Clinical Real-Time Genome Sequencing to Solve the Complex and Confounded Presentation of a Child With Focal Segmental Glomerulosclerosis and Multiple Malignancies
Jain, Namrata G., Ahram, Dina F., Marasa, Maddalena, Rehman, Ateeq U., May, Halie J., Zacharoulis, Stergios, Revah-Politi, Anya, Florido, Michelle E., Whittemore, Gregory B., Aggarwal, Vimla S., Hargus, Gunnar, Anyane-Yeboa, Kwame, D’Agati, Vivette D., Lin, Fangming, Jobanputra, Vaidehi, Sanna-Cherchi, Simone
Published in Kidney international reports (01.10.2022)
Published in Kidney international reports (01.10.2022)
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Journal Article
Clinical Real-Time Genome Sequencing to Solve the Complex and Confounded Presentation of a Child With Focal Segmental Glomerulosclerosis and Multiple Malignancies
Jain, Namrata G, Ahram, Dina F, Marasa, Maddalena, Rehman, Ateeq U, May, Halie J, Zacharoulis, Stergios, Revah-Politi, Anya, Florido, Michelle E, Whittemore, Gregory B, Aggarwal, Vimla S, Hargus, Gunnar, Anyane-Yeboa, Kwame, D'Agati, Vivette D, Lin, Fangming, Jobanputra, Vaidehi, Sanna-Cherchi, Simone
Published in Kidney international reports (01.10.2022)
Published in Kidney international reports (01.10.2022)
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