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 · 634 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Claire Redin, Harrison Brand, Ryan L. Collins et al. · Nature Genetics · 2016 · 354 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Ebba Lohmann, Magali Periquet, Vincenzo Bonifati et al. · Annals of Neurology · 2003 · 295 citations

Life Sciences, Genetics, Neurology +17

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

Life Sciences, Genetics, Neurology +17

Expansion of the genotypic and phenotypic spectrum in patients with <i>KRAS</i> germline mutations

Martin Zenker, Katarina Lehmann, D. Hansmann et al. · Journal of Medical Genetics · 2006 · 203 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16