Sarah M. Nikkel

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

Founder and Recurrent CDH1 Mutations in Families With Hereditary Diffuse Gastric Cancer

Pardeep Kaurah, Andrée MacMillan, Niki Boyd et al. · JAMA · 2007 · 452 citations

Executive function deficits in children with fetal alcohol spectrum disorders (FASD) measured using the Cambridge Neuropsychological Tests Automated Battery (CANTAB)

C.R. Green, Alanna Mihic, Sarah M. Nikkel et al. · Journal of Child Psychology and Psychiatry · 2009 · 237 citations

Coffin-Siris Syndrome and the BAF Complex: Genotype-Phenotype Study in 63 Patients

Gijs W.E. Santen, Emmelien Aten, Anneke T. Vulto‐van Silfhout et al. · Human Mutation · 2013 · 214 citations

Genetics, Genetic Epidemiology, Pathology +20

Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome

Rebecca L. Hood, Matthew A. Lines, Sarah M. Nikkel et al. · The American Journal of Human Genetics · 2012 · 185 citations · Full text

Cause Floating-harbor Syndrome, Molecular Physiology, Signal Transduction +4