Kazuo Momma

Role of TBX1 in human del22q11.2 syndrome

Hisato Yagi, Yoshiyuki Furutani, Hiromichi Hamada et al. · The Lancet · 2003 · 880 citations

Life Sciences, Genetics, Molecular Genetics +3

Germline gain-of-function mutations in RAF1 cause Noonan syndrome

Abdur Razzaque, Tsutomu Nishizawa, Yuta Komoike et al. · Nature Genetics · 2007 · 499 citations

Life Sciences, Genetics, Molecular Genetics +14

Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11.

John Burn, Atsuyoshi Takao, David I. Wilson et al. · Journal of Medical Genetics · 1993 · 269 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Novel Mechanism Associated With an Inherited Cardiac Arrhythmia

Michiko Furutani, Matthew C. Trudeau, Nobuhisa Hagiwara et al. · Circulation · 1999 · 192 citations

Medicine, Cardiology, Genetics +17

Confirmation that the conotruncal anomaly face syndrome is associated with a deletion within 22q11.2

Rumiko Matsuoka, Atsuyoshi Takao, Misa Kimura et al. · American Journal of Medical Genetics · 1994 · 157 citations

Life Sciences, Cardiology, Genetics +17