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Naomichi Matsumoto

Olfactory Receptor–Gene Clusters, Genomic-Inversion Polymorphisms, and Common Chromosome Rearrangements
2001 · Sabrina Giglio, Karl W. Broman, et al. · The American Journal of Human Genetics · 402
Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)
2003 · Koki Yamada, Caroline Andrews, et al. · Nature Genetics · 265
LRP5, low-density-lipoprotein-receptor-related protein 5, is a determinant for bone mineral density
2004 · Takeshi Mizuguchi, Itsuko Furuta, et al. · Journal of Human Genetics · 126
Postnatal overgrowth by 15q‐trisomy and intrauterine growth retardation by 15q‐monosomy due to familial translocation t(13;15): Dosage effect of IGF1R?
2002 · Toshiro Nagai, Osamu Shimokawa, et al. · American Journal of Medical Genetics · 114
Complex low-copy repeats associated with a common polymorphic inversion at human chromosome 8p23
2003 · Hirobumi Sugawara, Naoki Harada, et al. · Genomics · 81
Inv dup del(4)(:p14 → p16.3::p16.3 → qter) with manifestations of partial duplication 4p and Wolf‐Hirschhorn syndrome
2003 · Yuki Kondoh, Takaya Toma, et al. · American Journal of Medical Genetics Part A · 70
Novel tumorigenic rearrangement, Δrfp/ret, in a papillary thyroid carcinoma from externally irradiated patient
2003 · Vladimir Saenko, Tatiana Rogounovitch, et al. · Mutation research. Fundamental and molecular mechanisms of mutagenesis · 55
Subtelomere specific microarray based comparative genomic hybridisation: a rapid detection system for cryptic rearrangements in idiopathic mental retardation
2004 · N Harada, E Hatchwell, et al. · Journal of Medical Genetics · 53
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9q34.3 deletion syndrome in three unrelated children
2004 · Mie Iwakoshi, Nobuhiko Okamoto, et al. · American Journal of Medical Genetics Part A · 50
CFEOM1, the classic familial form of congenital fibrosis of the extraocular muscles, is genetically heterogeneous but does not result from mutations in ARIX
2002 · Elizabeth C Engle, Nathalie McIntosh, et al. · BMC Genetics · 45
A 1-Mb critical region in six patients with 9q34.3 terminal deletion syndrome
2004 · Naoki Harada, Remco Visser, et al. · Journal of Human Genetics · 41
Genomic Structure, Chromosomal Mapping, and Expression Pattern of HumanDCAMKL1(KIAA0369), a Homologue ofDCX(XLIS)
1999 · Naomichi Matsumoto, Daniela T. Pilz, et al. · Genomics · 37
Confirmation of genetic homogeneity of nonsyndromic low-frequency sensorineural hearing loss by linkage analysis and a DFNA6/14 mutation in a Japanese family
2002 · K. Komatsu, N. Nakamura, et al. · Journal of Human Genetics · 35
A novel gene is disrupted at a 14q13 breakpoint of t(2;14) in a patient with mirror-image polydactyly of hands and feet
2002 · S. Kondoh, H. Sugawara, et al. · Journal of Human Genetics · 31
The IHPK1 gene is disrupted at the 3p21.31 breakpoint of t(3;9) in a family with type 2 diabetes mellitus
2004 · Junichi Kamimura, Keiko Wakui, et al. · Journal of Human Genetics · 30
Duplication of 8p23.2: A benign cytogenetic variant?
2002 · Naoki Harada, Jun Takano, et al. · American Journal of Medical Genetics · 29
A 1.2-Megabase BAC/PAC Contig Spanning the 14q13 Breakpoint of t(2;14) in a Mirror-Image Polydactyly Patient
1997 · Naomichi Matsumoto, Eiichi Soeda, et al. · Genomics · 23
A girl with 1p36 deletion syndrome and congenital fiber type disproportion myopathy
2002 · N. Okamoto, Y. Toribe, et al. · Journal of Human Genetics · 20
Maternal isodisomy for 14q21‐q24 in a man with diabetes mellitus
2002 · Tomohiko Kayashima, Masahito Katahira, et al. · American Journal of Medical Genetics · 19
Congenital glaucoma and Silver-Russell phenotype associated with partial trisomy 7q and monosomy 15q
2001 · Rumiko Kato, Jun Kishibayashi, et al. · American Journal of Medical Genetics · 18
Two Nonsense Mutations of PAX6 in Two Japanese Aniridia Families: Case Report and Review of the Literature
2000 · A. Kondo-Saitoh, N. Matsumoto, et al. · European Journal of Ophthalmology · 17
Molecular mapping of a translocation breakpoint at 14q13 in a patient with mirror-image polydactyly of hands and feet
1997 · N. Matsumoto, Hirofumi Ohashi, et al. · Human Genetics · 17
Loss of heterozygosity on chromosome 9q22.3 in microdissected basal cell carcinomas around the Semipalatinsk Nuclear Testing Site, Kazakhstan
2004 · Kenji Iwata, Noboru Takamura, et al. · Human Pathology · 13
Functional disomy for Xq22‐q23 in a girl with complex rearrangements of chromosomes 3 and X
2003 · Tomoko Ida, Norio Miharu, et al. · American Journal of Medical Genetics Part A · 12
Diagnosis of four chromosome abnormalities of unknown origin by chromosome microdissection and subsequent reverse and forward painting
1996 · Katia-Édni F. de Albuquerque Coêlho, Masayuki Egashira, et al. · American Journal of Medical Genetics · 9
Works count: 31
Citation count: 1,635
H-index: 19
I10-index: 24
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