Inherited microdeletions in the Angelman and Prader–Willi syndromes define an imprinting centre on human chromosome 15 K Buiting, S Saitoh, S Gross, B Dittrich, S Schwartz, RD Nicholls, ... Nature genetics 9 (4), 395-400, 1995 | 703 | 1995 |
Imprinting in Prader–Willi and Angelman syndromes RD Nicholls, S Saitoh, B Horsthemke Trends in Genetics 14 (5), 194-200, 1998 | 532 | 1998 |
Imprinting-mutation mechanisms in Prader-Willi syndrome T Ohta, TA Gray, PK Rogan, K Buiting, JM Gabriel, S Saitoh, B Muralidhar, ... The American Journal of Human Genetics 64 (2), 397-413, 1999 | 348 | 1999 |
Imprint switching on human chromosome 15 may involve alternative transcripts of the SNRPN gene B Dittrich, K Buiting, B Korn, S Rickard, J Buxton, S Saitoh, RD Nicholls, ... Nature genetics 14 (2), 163-170, 1996 | 306 | 1996 |
Clinicopathological features of genetically confirmed Danon disease K Sugie, A Yamamoto, K Murayama, SJ Oh, M Takahashi, M Mora, ... Neurology 58 (12), 1773-1778, 2002 | 286 | 2002 |
Gene structure, DNA methylation, and imprinted expression of the human SNRPN gene. CC Glenn, S Saitoh, MT Jong, MM Filbrandt, U Surti, DJ Driscoll, ... American journal of human genetics 58 (2), 335, 1996 | 284 | 1996 |
A novel imprinted gene, encoding a RING zinc-finger protein, and overlapping antisense transcript in the Prader-Willi syndrome critical region MTC Jong, TA Gray, Y Ji, CC Glenn, S Saitoh, DJ Driscoll, RD Nicholls Human molecular genetics 8 (5), 783-793, 1999 | 277 | 1999 |
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy L Gueneau, AT Bertrand, JP Jais, MA Salih, T Stojkovic, M Wehnert, ... The American Journal of Human Genetics 85 (3), 338-353, 2009 | 245 | 2009 |
An imprinted, mammalian bicistronic transcript encodes two independent proteins TA Gray, S Saitoh, RD Nicholls Proceedings of the National Academy of Sciences 96 (10), 5616-5621, 1999 | 216 | 1999 |
A longer polyalanine expansion mutation in the ARX gene causes early infantile epileptic encephalopathy with suppression-burst pattern (Ohtahara syndrome) M Kato, S Saitoh, A Kamei, H Shiraishi, Y Ueda, M Akasaka, J Tohyama, ... The American Journal of Human Genetics 81 (2), 361-366, 2007 | 210 | 2007 |
Minimal definition of the imprinting center and fixation of chromosome 15q11-q13 epigenotype by imprinting mutations. S Saitoh, K Buiting, PK Rogan, JL Buxton, DJ Driscoll, J Arnemann, ... Proceedings of the National Academy of Sciences 93 (15), 7811-7815, 1996 | 201 | 1996 |
Molecular dissection of the Prader-Willi/Angelman syndrome region (15q11–13) by YAC cloning and FISH analysis A Kuwano, A Mutirangura, B Dittrich, B Horsthemke, S Saitoh, N Nikawa, ... Human Molecular Genetics 1 (6), 417-425, 1992 | 198 | 1992 |
A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome M Meguro, A Kashiwagi, K Mitsuya, M Nakao, I Kondo, S Saitoh, ... Nature genetics 28 (1), 19-20, 2001 | 184 | 2001 |
Dominant-negative mutations in α-II spectrin cause West syndrome with severe cerebral hypomyelination, spastic quadriplegia, and developmental delay H Saitsu, J Tohyama, T Kumada, K Egawa, K Hamada, I Okada, ... The American Journal of Human Genetics 86 (6), 881-891, 2010 | 176 | 2010 |
Phenotypic Spectrum of COL4A1 Mutations: Porencephaly to Schizencephaly Y Yoneda, K Haginoya, M Kato, H Osaka, K Yokochi, H Arai, A Kakita, ... Annals of neurology 73 (1), 48-57, 2013 | 174 | 2013 |
Integrative analyses of de novo mutations provide deeper biological insights into autism spectrum disorder A Takata, N Miyake, Y Tsurusaki, R Fukai, S Miyatake, E Koshimizu, ... Cell reports 22 (3), 734-747, 2018 | 160 | 2018 |
Decreased tonic inhibition in cerebellar granule cells causes motor dysfunction in a mouse model of Angelman syndrome K Egawa, K Kitagawa, K Inoue, M Takayama, C Takayama, S Saitoh, ... Science translational medicine 4 (163), 163ra157-163ra157, 2012 | 130 | 2012 |
Clinical spectrum and molecular diagnosis of Angelman and Prader‐Willi syndrome patients with an imprinting mutation S Saitoh, K Buiting, SB Cassidy, JM Conroy, DJ Driscoll, JM Gabriel, ... American journal of medical genetics 68 (2), 195-206, 1997 | 127 | 1997 |
Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor β3-subunit gene S Saitoh, T Kubota, T Ohta, Y Jinno, N Niikawa, T Sugimoto, J Wagstaff, ... The Lancet 339 (8789), 366-367, 1992 | 120 | 1992 |
Temple syndrome: comprehensive molecular and clinical findings in 32 Japanese patients M Kagami, K Nagasaki, R Kosaki, R Horikawa, Y Naiki, S Saitoh, T Tajima, ... Genetics in Medicine 19 (12), 1356-1366, 2017 | 112 | 2017 |