Ping Fang

De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome

Toshinobu Matsuura, James S. Sutcliffe, Ping Fang et al. · Nature Genetics · 1997 · 875 citations

Life Sciences, Genetics, Molecular Genetics +13

Specific mutations in <i>Methyl-CpG-Binding Protein 2</i> confer different severity in Rett syndrome

Jeffrey L. Neul, Ping Fang, James P. Barrish et al. · Neurology · 2008 · 501 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Autism and other neuropsychiatric symptoms are prevalent in individuals with <i>MeCP2</i> duplication syndrome

Melissa B. Ramocki, Sarika U. Peters, Y. Jane Tavyev et al. · Annals of Neurology · 2009 · 301 citations · Full text

Life Sciences, Genetics, Pediatrics +17

Mutations in X-linked PORCN, a putative regulator of Wnt signaling, cause focal dermal hypoplasia

Xiaoling Wang, V. Reid Sutton, J Omar Peraza-Llanes et al. · Nature Genetics · 2007 · 280 citations

Life Sciences, Genetics, Molecular Genetics +14

Diagnostic Testing for Rett Syndrome by DHPLC and Direct Sequencing Analysis of the MECP2 Gene: Identification of Several Novel Mutations and Polymorphisms

I. Buyse, Ping Fang, Katherine T. Hoon et al. · The American Journal of Human Genetics · 2000 · 169 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11