K Imaizumi

The Mutational Spectrum of the Sonic Hedgehog Gene in Holoprosencephaly: SHH Mutations Cause a Significant Proportion of Autosomal Dominant Holoprosencephaly

Luisa Nanni, Jeffrey E. Ming, Maureen Bocian et al. · Human Molecular Genetics · 1999 · 359 citations · Full text

Rubinstein-Taybi syndrome caused by submicroscopic deletions within 16p13.3.

M.H. Breuning, Hans G. Dauwerse, G Fugazza et al. · PubMed · 1993 · 122 citations

Human peroxisome assembly factor-2 (PAF-2): a gene responsible for group C peroxisome biogenesis disorder in humans.

Seiji Fukuda, Nobuyuki Shimozawa, Yasuyuki Suzuki et al. · PubMed · 1996 · 105 citations

Molecular mechanisms responsible for aberrant splicing of SERCA1 in myotonic dystrophy type 1

Shin‐ichiro Hino, Shinichi Kondo, Hiroshi Sekiya et al. · Human Molecular Genetics · 2007 · 100 citations · Full text

Deletion mapping of 22q11 in CATCH22 syndrome: identification of a second critical region.

Hiroki Kurahashi, Takahiro Nakayama, Yuko Osugi et al. · PubMed · 1996 · 89 citations · Full text