Sahar Mansour

Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene

Jamie W. Foster, M. Dominguez-Steglich, Silvana Guioli et al. · Nature · 1994 · 1.6K citations

Life Sciences, Genetics, Molecular Genetics +13

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

Andrew J. Sharp, Heather C. Mefford, Kelly Li et al. · Nature Genetics · 2008 · 591 citations

Medicine, Genetics, Pediatrics +14

Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome)

Pia Østergaard, Michael A. Simpson, Fiona Connell et al. · Nature Genetics · 2011 · 503 citations

Life Sciences, Genetics, Molecular Genetics +10

Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis

Elisavet Fotiou, Silvia Martin‐Almedina, Michael A. Simpson et al. · Nature Communications · 2015 · 325 citations · Full text

Life Sciences, Genetics, Molecular Genetics +13

Mutations in genes encoding the cadherin receptor-ligand pair DCHS1 and FAT4 disrupt cerebral cortical development

Silvia Cappello, Mary Jane Gray, Caroline Badouel et al. · Nature Genetics · 2013 · 287 citations

Life Sciences, Developmental Biology, Molecular Genetics +8