| Heterozygous TGFBR2 mutations in Marfan syndrome T Mizuguchi, G Collod-Beroud, T Akiyama, M Abifadel, N Harada, ... Nature genetics 36 (8), 855-860, 2004 | 810 | 2004 |
| Haploinsufficiency of NSD1 causes Sotos syndrome N Kurotaki, K Imaizumi, N Harada, M Masuno, T Kondoh, T Nagai, ... Nature genetics 30 (4), 365-366, 2002 | 689 | 2002 |
| De novo mutations in the gene encoding STXBP1 (MUNC18-1) cause early infantile epileptic encephalopathy H Saitsu, M Kato, T Mizuguchi, K Hamada, H Osaka, J Tohyama, K Uruno, ... Nature genetics 40 (6), 782-788, 2008 | 643 | 2008 |
| Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome Y Tsurusaki, N Okamoto, H Ohashi, T Kosho, Y Imai, Y Hibi-Ko, T Kaname, ... Nature genetics 44 (4), 376-378, 2012 | 582 | 2012 |
| Long-read sequencing identifies GGC repeat expansions in NOTCH2NLC associated with neuronal intranuclear inclusion disease J Sone, S Mitsuhashi, A Fujita, T Mizuguchi, K Hamanaka, K Mori, H Koike, ... Nature genetics 51 (8), 1215-1221, 2019 | 442 | 2019 |
| Cohesin-dependent globules and heterochromatin shape 3D genome architecture in S. pombe T Mizuguchi, G Fudenberg, S Mehta, JM Belton, N Taneja, HD Folco, ... Nature 516 (7531), 432-435, 2014 | 321 | 2014 |
| Recent progress in genetics of Marfan syndrome and Marfan-associated disorders T Mizuguchi, N Matsumoto Journal of human genetics 52 (1), 1-12, 2007 | 199 | 2007 |
| Molecular genetics of Marfan syndrome C Boileau, G Jondeau, T Mizuguchi, N Matsumoto Current opinion in cardiology 20 (3), 194-200, 2005 | 195 | 2005 |
| 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 | 183 | 2010 |
| 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 | 182 | 2018 |
| LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density T Mizuguchi, I Furuta, Y Watanabe, K Tsukamoto, H Tomita, M Tsujihata, ... Journal of human genetics 49 (2), 80-86, 2004 | 169 | 2004 |
| Tandem-genotypes: robust detection of tandem repeat expansions from long DNA reads S Mitsuhashi, MC Frith, T Mizuguchi, S Miyatake, T Toyota, H Adachi, ... Genome biology 20, 1-17, 2019 | 135 | 2019 |
| SMOC1 is essential for ocular and limb development in humans and mice I Okada, H Hamanoue, K Terada, T Tohma, A Megarbane, E Chouery, ... The American Journal of Human Genetics 88 (1), 30-41, 2011 | 128 | 2011 |
| Clinical correlations of mutations affecting six components of the SWI/SNF complex: detailed description of 21 patients and a review of the literature T Kosho, N Okamoto, H Ohashi, Y Tsurusaki, Y Imai, Y Hibi‐Ko, ... American journal of medical genetics Part A 161 (6), 1221-1237, 2013 | 119 | 2013 |
| Mutations in genes encoding polycomb repressive complex 2 subunits cause Weaver syndrome E Imagawa, K Higashimoto, Y Sakai, C Numakura, N Okamoto, ... Human mutation 38 (6), 637-648, 2017 | 116 | 2017 |
| GGC Repeat Expansion of NOTCH2NLC in Adult Patients with Leukoencephalopathy M Okubo, H Doi, R Fukai, A Fujita, S Mitsuhashi, S Hashiguchi, H Kishida, ... Annals of neurology 86 (6), 962-968, 2019 | 115 | 2019 |
| Identification of independent APP locus duplication in Japanese patients with early-onset Alzheimer disease K Kasuga, T Shimohata, A Nishimura, A Shiga, T Mizuguchi, J Tokunaga, ... Journal of Neurology, Neurosurgery & Psychiatry 80 (9), 1050-1052, 2009 | 113 | 2009 |
| Asf1/HIRA facilitate global histone deacetylation and associate with HP1 to promote nucleosome occupancy at heterochromatic loci K Yamane, T Mizuguchi, B Cui, M Zofall, K Noma, SIS Grewal Molecular cell 41 (1), 56-66, 2011 | 99 | 2011 |
| Array comparative genomic hybridization analysis in first‐trimester spontaneous abortions with ‘normal’karyotypes O Shimokawa, N Harada, N Miyake, K Satoh, T Mizuguchi, N Niikawa, ... American journal of medical genetics Part A 140 (18), 1931-1935, 2006 | 93 | 2006 |
| Comprehensive genetic analysis of relevant four genes in 49 patients with Marfan syndrome or Marfan‐related phenotypes H Sakai, R Visser, S Ikegawa, E Ito, H Numabe, Y Watanabe, H Mikami, ... American Journal of Medical Genetics Part A 140 (16), 1719-1725, 2006 | 87 | 2006 |
