Anand Saggar

De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes

Jean-Baptiste Rivière, Ghayda Mirzaa, Brian J. O’Roak et al. · Nature Genetics · 2012 · 737 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +11

<i>DICER1</i> syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

I. Slade, Chiara Bacchelli, H. Davies et al. · Journal of Medical Genetics · 2011 · 361 citations · Full text

De Novo Mutations in MLL Cause Wiedemann-Steiner Syndrome

Wendy D. Jones, Dimitra Dafou, Meriel McEntagart et al. · The American Journal of Human Genetics · 2012 · 276 citations · Full text

Mendelian Disorder, Genetic Disorder, Medicine +6

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly

Diana Alcantara, Andrew E. Timms, Karen W. Gripp et al. · Brain · 2017 · 110 citations · Full text

Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin A

Eyal Reinstein, Sophia Frentz, Tim Morgan et al. · European Journal of Human Genetics · 2012 · 109 citations · Full text

Developmental Biology, Mendelian Disorder, X-linked Periventricular Heterotopia +6