Kenjiro Kosaki

GA4GH: International policies and standards for data sharing across genomic research and healthcare

Heidi L. Rehm, Angela Page, Lindsay Smith et al. · Cell Genomics · 2021 · 273 citations · Full text

Holoprosencephaly in RSH/Smith-Lemli-Opitz syndrome: Does abnormal cholesterol metabolism affect the function ofsonic hedgehog?

Richard I. Kelley, Erich Roessler, Raoul C. M. Hennekam et al. · American Journal of Medical Genetics · 1996 · 217 citations

Characterization and Mutation Analysis of Human LEFTY A and LEFTY B, Homologues of Murine Genes Implicated in Left-Right Axis Development

Kenjiro Kosaki, Rika Kosaki, Maria Teresa Bassi et al. · The American Journal of Human Genetics · 1999 · 208 citations · Full text

Murine Genes Implicated, Developmental Biology, Genetic Disorder +9

Left-right axis malformations associated with mutations inACVR2B, the gene for human activin receptor type IIB

Rika Kosaki, Marinella Gebbia, Kenjiro Kosaki et al. · American Journal of Medical Genetics · 1999 · 202 citations

Phenotypic spectrum of CHARGE syndrome with CHD7 mutations

Michihiko Aramaki, Toru Udaka, Rika Kosaki et al. · The Journal of Pediatrics · 2006 · 165 citations

Mendelian Disorder, Genetic Disorder, Genetics +5