Kazuo Momma

Role of TBX1 in human del22q11.2 syndrome

Hisato Yagi, Yoshiyuki Furutani, Hiromichi Hamada et al. · The Lancet · 2003 · 877 citations

Genetic Disorder, Pathology, Autoimmunity +3

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

Abdur Razzaque, Tsutomu Nishizawa, Yuta Komoike et al. · Nature Genetics · 2007 · 490 citations

Genetic Disorder, Genetics, Pathology +3

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

Probe Do832, Developmental Anomaly, Genetic Disorder +11

Novel Mechanism Associated With an Inherited Cardiac Arrhythmia

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

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