Meriel McEntagart
St George's, University of London(GB)Wellcome Centre for Cell-Matrix Research(GB)St George’s University Hospitals NHS Foundation Trust(GB)
Publications by Year
Research Areas
Hereditary Neurological Disorders, Genetic Neurodegenerative Diseases, Genomics and Rare Diseases, Cancer Genomics and Diagnostics, Neurogenetic and Muscular Disorders Research
Most-Cited Works
- → Parental Somatic Mosaicism Is Underrecognized and Influences Recurrence Risk of Genomic Disorders(2014)279 cited
- → Substitution mutational signatures in whole-genome–sequenced cancers in the UK population(2022)273 cited
- → Alterations in the ankyrin domain of TRPV4 cause congenital distal SMA, scapuloperoneal SMA and HMSN2C(2009)267 cited
- → Mutations in KIF11 Cause Autosomal-Dominant Microcephaly Variably Associated with Congenital Lymphedema and Chorioretinopathy(2012)188 cited
- → Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patients(2010)150 cited
- → Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria(2010)143 cited