Koki Yamada

Mutations in a Human <i>ROBO</i> Gene Disrupt Hindbrain Axon Pathway Crossing and Morphogenesis

Joanna C. Jen, Wai‐Man Chan, Thomas M. Bosley et al. · Science · 2004 · 384 citations · Full text

Life Sciences, Genetics, Neuroscience +16

Duane Radial Ray Syndrome (Okihiro Syndrome) Maps to 20q13 and Results from Mutations in SALL4, a New Member of the SAL Family

Raidah Albaradie, Koki Yamada, Cynthia St. Hilaire et al. · The American Journal of Human Genetics · 2002 · 319 citations · Full text

Life Sciences, Genetics, Molecular Genetics +6

Heterozygous mutations of the kinesin KIF21A in congenital fibrosis of the extraocular muscles type 1 (CFEOM1)

Koki Yamada, Caroline Andrews, Wai‐Man Chan et al. · Nature Genetics · 2003 · 262 citations

Medicine, Genetics, Molecular Genetics +14

Domain-specific mutations in TGFB1 result in Camurati-Engelmann disease

Akira Kinoshita, Takashi Saito, Hiroaki Tomita et al. · Nature Genetics · 2000 · 253 citations

Life Sciences, Genetics, Molecular Genetics +7

Homozygous mutations in ARIX(PHOX2A) result in congenital fibrosis of the extraocular muscles type 2

Motoi Nakano, Koki Yamada, Jennifer Fain et al. · Nature Genetics · 2001 · 221 citations

Medicine, Genetics, Molecular Genetics +12