Sahar Mansour

Overview

Best Publications

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

  J W Foster;M A Dominguez-Steglich;S Guioli;C Kwok

  1843
  Citations

• The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

  Sebastian Köhler;Sandra C. Doelken;Christopher J. Mungall;Sebastian Bauer

  923
  Citations

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

  Andrew J Sharp;Heather C Mefford;Kelly Li;Carl Baker

  651
  Citations

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

  Pia Ostergaard;Michael A Simpson;Fiona C Connell;Colin G Steward

  582
  Citations

• Evidence for 28 genetic disorders discovered by combining healthcare and research data

  J Kaplanis;K E Samocha;L Wiel;Z Zhang

  473
  Citations

• Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

  Michael A Simpson;Melita D Irving;Melita D Irving;Esra Asilmaz;Mary J Gray

  345
  Citations

• Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24

  G Brice;S Mansour;R Bell;J R O Collin

  343
  Citations

• Dominant mutations in ROR2, encoding an orphan receptor tyrosine kinase, cause brachydactyly type B.

  Michael Oldridge;Ana M Fortuna;Monika Maringa;Peter Propping

  303
  Citations

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

  Elisavet Fotiou;Silvia Martin-Almedina;Michael A. Simpson;Shin Lin

  294
  Citations

• Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

  Víctor Faundes;Víctor Faundes;William G. Newman;Laura Bernardini;Natalie Canham

  274
  Citations

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

  Silvia Cappello;Mary J Gray;Caroline Badouel;Caroline Badouel;Simona Lange

  259
  Citations

• Whole-Exome-Sequencing Identifies Mutations in Histone Acetyltransferase Gene KAT6B in Individuals with the Say-Barber-Biesecker Variant of Ohdo Syndrome

  Jill Clayton-Smith;James O'Sullivan;Sarah Daly;Sanjeev Bhaskar

  230
  Citations

• Milroy disease and the VEGFR-3 mutation phenotype

  G Brice;A H Child;A Evans;R Bell

  217
  Citations

• Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis

  Zandra A Jenkins;Margriet van Kogelenberg;Tim Morgan;Aaron Jeffs

  207
  Citations

• Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy

  Pia Ostergaard;Michael A Simpson;Antonella Mendola;Pradeep Vasudevan

  189
  Citations

• Mutation in Vascular Endothelial Growth Factor-C, a Ligand for Vascular Endothelial Growth Factor Receptor-3, Is Associated With Autosomal Dominant Milroy-Like Primary Lymphedema

  Kristiana Gordon;Dörte Schulte;Glen Brice;Michael A. Simpson

  185
  Citations

• The classification and diagnostic algorithm for primary lymphatic dysplasia: an update from 2010 to include molecular findings.

  FC Connell;K Gordon;G Brice;V Keeley

  183
  Citations

• Mutations in PIK3R1 Cause SHORT Syndrome

  David A. Dyment;Amanda C. Smith;Diana Alcantara;Jeremy A. Schwartzentruber

  182
  Citations

• Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

  Morad Ansari;Gemma Poke;Quentin Ferry;Kathleen Williamson

  180
  Citations

• 755 Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy

  S. Polubothu;L. Al-Olabi;K. Dowsett;K. Andrews

  6
  Citations