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 · 294 citations · Full text

Life Sciences, Bioinformatics, Molecular Genetics +17

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 · 218 citations

Life Sciences, Biochemistry, Molecular Genetics +17

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 · 209 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Medicine, Genetics, Molecular Genetics +17

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

Michele Gabriele, Anneke T. Vulto‐van Silfhout, Pierre‐Luc Germain et al. · The American Journal of Human Genetics · 2017 · 170 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17