Salmo Raskin

Phenotypic Heterogeneity of Genomic Disorders and Rare Copy-Number Variants

Santhosh Girirajan, Jill A. Rosenfeld, Bradley P. Coe et al. · New England Journal of Medicine · 2012 · 620 citations · Full text

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 346 citations · Full text

Human Congenital Anomalies, Developmental Anomaly, Developmental Biology +8

How much phenotypic variation can be attributed to <i>parkin</i> genotype?

Ebba Lohmann, Magali Periquet, Vincenzo Bonifati et al. · Annals of Neurology · 2003 · 294 citations

Parkin mutations are frequent in patients with isolated early‐onset parkinsonism

Magali Periquet, Morwena Latouche, Ebba Lohmann et al. · Brain · 2003 · 287 citations · Full text

Parkin Gene, Neurodegenerative Diseases, Parkin Mutations +15

De novo<i>SCN1A</i>mutations are a major cause of severe myoclonic epilepsy of infancy

Lieve Claes, Berten Ceulemans, Dominique Audenaert et al. · Human Mutation · 2003 · 202 citations

Scn1a Mutations, Rare Diseases, Major Cause +15