Marjan M. Nezarati

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

Increased LIS1 expression affects human and mouse brain development

Weimin Bi, Tamar Sapir, Oleg A. Shchelochkov et al. · Nature Genetics · 2009 · 219 citations · Full text

Knockout Mouse, Developmental Biology, Molecular Neuroscience +7

Baraitser–Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases

Alain Verloès, Nataliya Di Donato, Julien Masliah‐Planchon et al. · European Journal of Human Genetics · 2014 · 171 citations · Full text

Neurological Disorder, Clinical Neurology, Baraitser–winter Cerebrofrontofacial Syndrome +3

Genotype–phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrum

Santhosh Girirajan, Christopher N. Vlangos, Barbara Szomju et al. · Genetics in Medicine · 2006 · 150 citations

Autoimmune Disease, Genetic Disorder, Multiple Genes +11

A patient with mutations in DNA Ligase IV: Clinical features and overlap with Nijmegen breakage syndrome

Tawfeg I. Ben‐Omran, Karen Cerosaletti, Patrick Concannon et al. · American Journal of Medical Genetics Part A · 2005 · 124 citations · Full text