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Yasunari Sakai - Publications

Affiliations: 
Baylor College of Medicine, Houston, TX 
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27 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2021 Sakai Y, Okuzono S, Schaaf CP, Ohga S. Translational pediatrics: clinical perspective for Phelan-McDermid syndrome and autism research. Pediatric Research. PMID 34702975 DOI: 10.1038/s41390-021-01806-x  0.505
2020 Nishiyama K, Kurokawa M, Torio M, Sakai Y, Arima M, Tsukamoto S, Obata S, Minamikawa S, Nozu K, Kaku N, Maehara Y, Sonoda KH, Taguchi T, Ohga S. Gastrointestinal symptoms as an extended clinical feature of Pierson syndrome: a case report and review of the literature. Bmc Medical Genetics. 21: 80. PMID 32295525 DOI: 10.1186/S12881-020-01019-9  0.323
2019 Takata A, Nakashima M, Saitsu H, Mizuguchi T, Mitsuhashi S, Takahashi Y, Okamoto N, Osaka H, Nakamura K, Tohyama J, Haginoya K, Takeshita S, Kuki I, Okanishi T, Goto T, ... ... Sakai Y, et al. Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy. Nature Communications. 10: 2506. PMID 31175295 DOI: 10.1038/S41467-019-10482-9  0.327
2018 Okuzono S, Fukai R, Noda M, Miyake N, Lee S, Kaku N, Sanefuji M, Akamine S, Kanno S, Ishizaki Y, Torisu H, Kira R, Matsumoto N, Sakai Y, Ohga S. An acute encephalopathy with reduced diffusion in BRAF-associated cardio-facio-cutaneous syndrome. Brain & Development. PMID 30414707 DOI: 10.1016/J.Braindev.2018.10.012  0.357
2018 Chong PF, Saitsu H, Sakai Y, Imagi T, Nakamura R, Matsukura M, Matsumoto N, Kira R. Deletions of SCN2A and SCN3A genes in a patient with West syndrome and autistic spectrum disorder. Seizure. 60: 91-93. PMID 29929112 DOI: 10.1016/J.Seizure.2018.06.012  0.38
2018 Hirofuji S, Hirofuji Y, Kato H, Masuda K, Yamaza H, Sato H, Takayama F, Torio M, Sakai Y, Ohga S, Taguchi T, Nonaka K. Mitochondrial dysfunction in dopaminergic neurons differentiated from exfoliated deciduous tooth-derived pulp stem cells of a child with Rett syndrome. Biochemical and Biophysical Research Communications. PMID 29534967 DOI: 10.1016/J.Bbrc.2018.03.077  0.321
2018 Akamine S, Ishizaki Y, Sakai Y, Torisu H, Fukai R, Miyake N, Ohkubo K, Koga H, Sanefuji M, Sakata A, Kimura M, Yamaguchi S, Sakamoto O, Hara T, Saitsu H, et al. A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia. European Journal of Medical Genetics. PMID 29510241 DOI: 10.1016/J.Ejmg.2018.03.003  0.351
2018 Teranishi H, Koga Y, Nakashima K, Morihana E, Ishii K, Sakai Y, Taguchi T, Oda Y, Miyake N, Matsumoto N, Ohga S. Cancer Management in Kabuki Syndrome: The First Case of Wilms Tumor and a Literature Review. Journal of Pediatric Hematology/Oncology. PMID 29489735 DOI: 10.1097/Mph.0000000000001111  0.329
2018 Sonoda M, Ishimura M, Ichimiya Y, Terashi E, Eguchi K, Sakai Y, Takada H, Hama A, Kanno H, Toki T, Ito E, Ohga S. Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia. International Journal of Hematology. PMID 29476317 DOI: 10.1007/S12185-018-2424-4  0.327
2018 Takata A, Miyake N, Tsurusaki Y, Fukai R, Miyatake S, Koshimizu E, Kushima I, Okada T, Morikawa M, Uno Y, Ishizuka K, Nakamura K, Tsujii M, Yoshikawa T, Toyota T, ... ... Sakai Y, et al. Integrative Analyses of De Novo Mutations Provide Deeper Biological Insights into Autism Spectrum Disorder. Cell Reports. 22: 734-747. PMID 29346770 DOI: 10.1016/J.Celrep.2017.12.074  0.322
2017 Takada Y, Sakai Y, Matsushita Y, Ohkubo K, Koga Y, Akamine S, Torio M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Kagami M, Hara T, Ohga S. Sustained endocrine profiles of a girl with WAGR syndrome. Bmc Medical Genetics. 18: 117. PMID 29061165 DOI: 10.1186/S12881-017-0477-5  0.329
2017 Imagawa E, Higashimoto K, Sakai Y, Numakura C, Okamoto N, Matsunaga S, Ryo A, Sato Y, Sanefuji M, Ihara K, Takada Y, Nishimura G, Saitsu H, Mizuguchi T, Miyatake S, et al. Mutations in Genes Encoding Polycomb Repressive Complex 2 Subunits Cause Weaver Syndrome. Human Mutation. PMID 28229514 DOI: 10.1002/Humu.23200  0.322
2016 Kanemasa H, Fukai R, Sakai Y, Torio M, Miyake N, Lee S, Ono H, Akamine S, Nishiyama K, Sanefuji M, Ishizaki Y, Torisu H, Saitsu H, Matsumoto N, Hara T. De novo p.Arg756Cys mutation of ATP1A3 causes an atypical form of alternating hemiplegia of childhood with prolonged paralysis and choreoathetosis. Bmc Neurology. 16: 174. PMID 27634470 DOI: 10.1186/S12883-016-0680-6  0.337
2016 Suzuki T, Miyake N, Tsurusaki Y, Okamoto N, Alkindy A, Inaba A, Sato M, Ito S, Muramatsu K, Kimura S, Ieda D, Saitoh S, Hiyane M, Suzumura H, Yagyu K, ... ... Sakai Y, et al. Molecular genetic analysis of 30 families with Joubert syndrome. Clinical Genetics. PMID 27434533 DOI: 10.1111/Cge.12836  0.339
2016 Sakai Y, Fukai R, Matsushita Y, Miyake N, Saitsu H, Akamine S, Torio M, Sasazuki M, Ishizaki Y, Sanefuji M, Torisu H, Shaw CA, Matsumoto N, Hara T. De Novo Truncating Mutation of TRIM8 Causes Early-Onset Epileptic Encephalopathy. Annals of Human Genetics. 80: 235-40. PMID 27346735 DOI: 10.1111/Ahg.12157  0.336
2016 Fukai R, Saitsu H, Tsurusaki Y, Sakai Y, Haginoya K, Takahashi K, Hubshman MW, Okamoto N, Nakashima M, Tanaka F, Miyake N, Matsumoto N. De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures. Journal of Human Genetics. PMID 26818738 DOI: 10.1038/Jhg.2016.1  0.329
2015 Saitsu H, Fukai R, Ben-Zeev B, Sakai Y, Mimaki M, Okamoto N, Suzuki Y, Monden Y, Saito H, Tziperman B, Torio M, Akamine S, Takahashi N, Osaka H, Yamagata T, et al. Phenotypic spectrum of GNAO1 variants: epileptic encephalopathy to involuntary movements with severe developmental delay. European Journal of Human Genetics : Ejhg. PMID 25966631 DOI: 10.1038/Ejhg.2015.92  0.323
2015 Isobe N, Sakai Y, Kira R, Sanefuji M, Ishizaki Y, Sakata A, Sasazuki M, Torio M, Akamine S, Torisu H, Hara T. Periodic Epileptiform Discharges in Children With Advanced Stages of Progressive Myoclonic Epilepsy. Clinical Eeg and Neuroscience. PMID 25828483 DOI: 10.1177/1550059415579767  0.322
2015 Chong PF, Haraguchi K, Torio M, Kirino M, Ogata R, Matsukura M, Sakai Y, Ishizaki Y, Yamamoto T, Kira R. A case of pontine tegmental cap dysplasia with comorbidity of oculoauriculovertebral spectrum. Brain & Development. 37: 171-4. PMID 24650581 DOI: 10.1016/J.Braindev.2014.02.007  0.311
2014 Sakai Y, Souzaki R, Yamamoto H, Matsushita Y, Nagata H, Ishizaki Y, Torisu H, Oda Y, Taguchi T, Shaw CA, Hara T. Testicular sex cord-stromal tumor in a boy with 2q37 deletion syndrome. Bmc Medical Genomics. 7: 19. PMID 24755370 DOI: 10.1186/1755-8794-7-19  0.317
2014 Torisu H, Watanabe K, Shimojima K, Sugawara M, Sanefuji M, Ishizaki Y, Sakai Y, Yamashita H, Yamamoto T, Hara T. Girl with a PRRT2 mutation and infantile focal epilepsy with bilateral spikes. Brain & Development. 36: 342-5. PMID 23768507 DOI: 10.1016/J.Braindev.2013.05.009  0.303
2013 Uike K, Matsushita Y, Sakai Y, Togao O, Nagao M, Ishizaki Y, Nagata H, Yamamura K, Torisu H, Hara T. Systemic vascular phenotypes of Loeys-Dietz syndrome in a child carrying a de novo R381P mutation in TGFBR2: a case report. Bmc Research Notes. 6: 456. PMID 24220024 DOI: 10.1186/1756-0500-6-456  0.346
2013 Sakai Y, Ohkubo K, Matsushita Y, Akamine S, Ishizaki Y, Torisu H, Ihara K, Sanefuji M, Kim MS, Lee KU, Shaw CA, Lim J, Nakabeppu Y, Hara T. Neuroendocrine phenotypes in a boy with 5q14 deletion syndrome implicate the regulatory roles of myocyte-specific enhancer factor 2C in the postnatal hypothalamus. European Journal of Medical Genetics. 56: 475-83. PMID 23832106 DOI: 10.1016/J.Ejmg.2013.06.009  0.666
2011 Sakai Y, Shaw CA, Dawson BC, Dugas DV, Al-Mohtaseb Z, Hill DE, Zoghbi HY. Protein interactome reveals converging molecular pathways among autism disorders. Science Translational Medicine. 3: 86ra49. PMID 21653829 DOI: 10.1126/Scitranslmed.3002166  0.503
2011 Schaaf CP, Sabo A, Sakai Y, Crosby J, Muzny D, Hawes A, Lewis L, Akbar H, Varghese R, Boerwinkle E, Gibbs RA, Zoghbi HY. Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders. Human Molecular Genetics. 20: 3366-75. PMID 21624971 DOI: 10.1093/Hmg/Ddr243  0.617
2010 Kira R, Ishizaki Y, Torisu H, Sanefuji M, Takemoto M, Sakamoto K, Matsumoto S, Yamaguchi Y, Yukaya N, Sakai Y, Gondo K, Hara T. Genetic susceptibility to febrile seizures: case-control association studies. Brain & Development. 32: 57-63. PMID 19854014 DOI: 10.1016/J.Braindev.2009.09.018  0.306
2006 Torisu H, Kira R, Kanazawa N, Takemoto M, Sanefuji M, Sakai Y, Tsujino S, Hara T. A novel R275X mutation of the SLC25A15 gene in a Japanese patient with the HHH syndrome. Brain & Development. 28: 332-5. PMID 16376511 DOI: 10.1016/J.Braindev.2005.10.002  0.366
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