| Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1 DJ Klionsky, AK Abdel-Aziz, S Abdelfatah, M Abdellatif, A Abdoli, S Abel, ... autophagy 17 (1), 1-382, 2021 | 11020 | 2021 |
| Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome SB Ng, AW Bigham, KJ Buckingham, MC Hannibal, MJ McMillin, ... Nature genetics 42 (9), 790-793, 2010 | 1666 | 2010 |
| Heterozygous TGFBR2 mutations in Marfan syndrome T Mizuguchi, G Collod-Beroud, T Akiyama, M Abifadel, N Harada, ... Nature genetics 36 (8), 855-860, 2004 | 803 | 2004 |
| Germline KRAS and BRAF mutations in cardio-facio-cutaneous syndrome T Niihori, Y Aoki, Y Narumi, G Neri, H Cavé, A Verloes, N Okamoto, ... Nature genetics 38 (3), 294-296, 2006 | 692 | 2006 |
| 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 | 683 | 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 | 635 | 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 | 567 | 2012 |
| De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood H Saitsu, T Nishimura, K Muramatsu, H Kodera, S Kumada, K Sugai, ... Nature genetics 45 (4), 445-449, 2013 | 488 | 2013 |
| Olfactory receptor–gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements S Giglio, KW Broman, N Matsumoto, V Calvari, G Gimelli, T Neumann, ... The American Journal of Human Genetics 68 (4), 874-883, 2001 | 431 | 2001 |
| 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 | 424 | 2019 |
| LIS1 and XLIS (DCX) mutations cause most classical lissencephaly, but different patterns of malformation DT Pilz, N Matsumoto, S Minnerath, P Mills, JG Gleeson, KM Allen, ... Human molecular genetics 7 (13), 2029-2037, 1998 | 397 | 1998 |
| SAMD9 mutations cause a novel multisystem disorder, MIRAGE syndrome, and are associated with loss of chromosome 7 S Narumi, N Amano, T Ishii, N Katsumata, K Muroya, M Adachi, ... Nature genetics 48 (7), 792-797, 2016 | 349 | 2016 |
| Homozygous c.14576G>A variant of RNF213 predicts early-onset and severe form of moyamoya disease S Miyatake, N Miyake, H Touho, A Nishimura-Tadaki, Y Kondo, I Okada, ... Neurology 78 (11), 803-810, 2012 | 328 | 2012 |
| Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1) K Yamada, C Andrews, WM Chan, CA McKeown, A Magli, ... Nature genetics 35 (4), 318-321, 2003 | 306 | 2003 |
| Human genetic variation database, a reference database of genetic variations in the Japanese population K Higasa, N Miyake, J Yoshimura, K Okamura, T Niihori, H Saitsu, ... Journal of human genetics 61 (6), 547-553, 2016 | 304 | 2016 |
| Kabuki make‐up syndrome: a review N Matsumoto, N Niikawa American Journal of Medical Genetics Part C: Seminars in Medical Genetics …, 2003 | 272 | 2003 |
| Clinical spectrum of early onset epileptic encephalopathies caused by KCNQ2 mutation M Kato, T Yamagata, M Kubota, H Arai, S Yamashita, T Nakagawa, T FujII, ... Epilepsia 54 (7), 1282-1287, 2013 | 269 | 2013 |
| Essential role of the IRF8-KLF4 transcription factor cascade in murine monocyte differentiation D Kurotaki, N Osato, A Nishiyama, M Yamamoto, T Ban, H Sato, ... Blood, The Journal of the American Society of Hematology 121 (10), 1839-1849, 2013 | 266 | 2013 |
| Differences in the gyral pattern distinguish chromosome 17–linked and X-linked lissencephaly WB Dobyns, CL Truwit, ME Ross, N Matsumoto, DT Pilz, DH Ledbetter, ... Neurology 53 (2), 270-270, 1999 | 264 | 1999 |
| Clinical spectrum of SCN2A mutations expanding to Ohtahara syndrome K Nakamura, M Kato, H Osaka, S Yamashita, E Nakagawa, K Haginoya, ... Neurology 81 (11), 992-998, 2013 | 257 | 2013 |
