Pieter A. Bolhuis

A novel X-linked gene, G4.5. is responsible for Barth syndrome

Silvia Bione, Patrizia D’Adamo, Elena Maestrini et al. · Nature Genetics · 1996 · 748 citations

Mendelian Disorder, Genetic Disorder, Genetics +6

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a)

Peter Raeymaekers, Vincent Timmerman, Eva Nelis et al. · Neuromuscular Disorders · 1991 · 598 citations

Mendelian Disorder, Genetic Disorder, Genetics +6

Identical point mutations of PMP–22 in Trembler–J mouse and Charcot–Marie–Tooth disease type 1A

Linda J. Valentijn, Frank Baas, Ruud A. Wolterman et al. · Nature Genetics · 1992 · 420 citations

Mendelian Disorder, Genetic Disorder, Genetics +8

The peripheral myelin gene PMP–22/GAS–3 is duplicated in Charcot–Marie–Tooth disease type 1A

Linda J. Valentijn, Pieter A. Bolhuis, Ina Zorn et al. · Nature Genetics · 1992 · 317 citations

Genetics, Experimental Neuropathology, Pathology +5

The X-Linked Gene G4.5 Is Responsible for Different Infantile Dilated Cardiomyopathies

Patrizia D’Adamo, Lucia Fassone, Ági K. Gedeon et al. · The American Journal of Human Genetics · 1997 · 232 citations · Full text

X-linked Gene G4.5, Cardiac Muscle, Cardiomyopathy +9