Familial ptotic lid elevation during ipsilateral abduction

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

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

Localization of a Gene for Duane Retraction Syndrome to Chromosome 2q31

Binoy Appukuttan, Elizabeth M. Gillanders, Suh‐Hang Hank Juo et al. · The American Journal of Human Genetics · 1999 · 121 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

CFEOM3: a new extraocular congenital fibrosis syndrome that maps to 16q24.2-q24.3.

E J Doherty, Margaret E. Macy, S.M. Wang et al. · PubMed · 1999 · 104 citations

Life Sciences, Genetics, Ophthalmology +15