Sahar Mansour

Research interests

Publications

• Guidelines for the diagnosis and management of adult aplastic anaemia: A British Society for Haematology Guideline

  British Journal of Haematology · 2024 · https://doi.org/10.1111/bjh.19236

• De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

  Nature · 2024 · https://doi.org/10.1038/s41586-024-07773-7

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

  Journal of Clinical Investigation · 2018 · https://doi.org/10.1172/jci98589

• Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management

  Genetics in Medicine · 2018 · https://doi.org/10.1038/gim.2018.30

• EPHB4 kinase–inactivating mutations cause autosomal dominant lymphatic-related hydrops fetalis

  Journal of Clinical Investigation · 2016 · https://doi.org/10.1172/jci85794

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

  Nature Communications · 2015 · https://doi.org/10.1038/ncomms9085

• Novel mutations expand the clinical spectrum of DYNC1H1 -associated spinal muscular atrophy

  Neurology · 2015 · https://doi.org/10.1212/wnl.0000000000001269

• Mutations in NLRP5 are associated with reproductive wastage and multilocus imprinting disorders in humans

  Nature Communications · 2015 · https://doi.org/10.1038/ncomms9086

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

  Clinical Genetics · 2013 · https://doi.org/10.1111/cge.12173

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

  Nature Genetics · 2013 · https://doi.org/10.1038/ng.2765

• 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

  Circulation Research · 2013 · https://doi.org/10.1161/circresaha.113.300350

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

  The American Journal of Human Genetics · 2012 · https://doi.org/10.1016/j.ajhg.2011.12.018

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

  Nature Genetics · 2011 · https://doi.org/10.1038/ng.923

• Rapid identification of mutations in GJC2 in primary lymphoedema using whole exome sequencing combined with linkage analysis with delineation of the phenotype

  Journal of Medical Genetics · 2011 · 10.1136/jmg.2010.085563

• Prenatal diagnosis of non‐immune hydrops fetalis: what do we tell the parents?

  Prenatal Diagnosis · 2011 · 10.1002/pd.2677

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

  Nature Genetics · 2008 · https://doi.org/10.1038/ng.93

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

  Nature Genetics · 2008 · https://doi.org/10.1038/ng.270

• Yellow nail syndrome: not a genetic disorder? Eleven new cases and a review of the literature

  British Journal of Dermatology · 2007 · https://doi.org/10.1111/j.1365-2133.2007.07894.x

• Carbimazole embryopathy: An emerging phenotype

  American Journal of Medical Genetics Part A · 2004 · 10.1002/ajmg.a.30418

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

  Journal of Medical Genetics · 2002 · https://doi.org/10.1136/jmg.39.7.478

• The phenotype of survivors of campomelic dysplasia

  Journal of Medical Genetics · 2002 · https://doi.org/10.1136/jmg.39.8.597

• Analysis of lymphoedema-distichiasis families forFOXC2 mutations reveals small insertions and deletions throughout the gene

  Human Genetics · 2001 · https://doi.org/10.1007/s004390100528

• Functional and Structural Studies of Wild Type SOX9 and Mutations Causing Campomelic Dysplasia

  Journal of Biological Chemistry · 1999 · 10.1074/jbc.274.34.24023

• Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal.

  PubMed · 1995

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

  Nature · 1994 · https://doi.org/10.1038/372525a0

Current projects

No projects listed.