Sahar Mansour

Sahar Mansour publication distribution in Genetics in 2026

The chart shows the distribution of publications by all Research.com ranked scientists in the field of Genetics in 2026. The highlighted bar marks where Sahar Mansour sits on this spectrum.

Sahar Mansour D-index placement in Genetics in 2026

The chart shows the D-index (discipline H-index) distribution of Genetics scientists ranked by Research.com in 2026. The highlighted bar marks where Sahar Mansour sits on this spectrum.

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