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De novo hotspot variants in CYFIP2 cause early-onset epileptic encephalopathy.
Nakashima M, Kato M, Aoto K, Shiina M, Belal H, Mukaida S, Kumada S, Sato A, Zerem A, Lerman-Sagie T, Lev D, Leong HY, Tsurusaki Y, Mizuguchi T, Miyatake S, Miyake N, Ogata K, Saitsu H, Matsumoto N. Nakashima M, et al. Among authors: kumada s. Ann Neurol. 2018 Apr;83(4):794-806. doi: 10.1002/ana.25208. Ann Neurol. 2018. PMID: 29534297
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood.
Saitsu H, Nishimura T, Muramatsu K, Kodera H, Kumada S, Sugai K, Kasai-Yoshida E, Sawaura N, Nishida H, Hoshino A, Ryujin F, Yoshioka S, Nishiyama K, Kondo Y, Tsurusaki Y, Nakashima M, Miyake N, Arakawa H, Kato M, Mizushima N, Matsumoto N. Saitsu H, et al. Among authors: kumada s. Nat Genet. 2013 Apr;45(4):445-9, 449e1. doi: 10.1038/ng.2562. Epub 2013 Feb 24. Nat Genet. 2013. PMID: 23435086
Identification of novel SNORD118 mutations in seven patients with leukoencephalopathy with brain calcifications and cysts.
Iwama K, Mizuguchi T, Takanashi JI, Shibayama H, Shichiji M, Ito S, Oguni H, Yamamoto T, Sekine A, Nagamine S, Ikeda Y, Nishida H, Kumada S, Yoshida T, Awaya T, Tanaka R, Chikuchi R, Niwa H, Oka YI, Miyatake S, Nakashima M, Takata A, Miyake N, Ito S, Saitsu H, Matsumoto N. Iwama K, et al. Among authors: kumada s. Clin Genet. 2017 Aug;92(2):180-187. doi: 10.1111/cge.12991. Epub 2017 Mar 30. Clin Genet. 2017. PMID: 28177126
De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.
Gregor A, Sadleir LG, Asadollahi R, Azzarello-Burri S, Battaglia A, Ousager LB, Boonsawat P, Bruel AL, Buchert R, Calpena E, Cogné B, Dallapiccola B, Distelmaier F, Elmslie F, Faivre L, Haack TB, Harrison V, Henderson A, Hunt D, Isidor B, Joset P, Kumada S, Lachmeijer AMA, Lees M, Lynch SA, Martinez F, Matsumoto N, McDougall C, Mefford HC, Miyake N, Myers CT, Moutton S, Nesbitt A, Novelli A, Orellana C, Rauch A, Rosello M, Saida K, Santani AB, Sarkar A, Scheffer IE, Shinawi M, Steindl K, Symonds JD, Zackai EH; University of Washington Center for Mendelian Genomics; DDD Study; Reis A, Sticht H, Zweier C. Gregor A, et al. Among authors: kumada s. Am J Hum Genet. 2018 Aug 2;103(2):305-316. doi: 10.1016/j.ajhg.2018.07.003. Epub 2018 Jul 26. Am J Hum Genet. 2018. PMID: 30057029 Free PMC article.
167 results