Margo L. Whiteford
Wessex Regional Genetics Laboratory(GB)
Publications by Year
Research Areas
Prenatal Screening and Diagnostics, Genomic variations and chromosomal abnormalities, Congenital limb and hand anomalies, Genetic Syndromes and Imprinting, Orthopedic Surgery and Rehabilitation
Most-Cited Works
- → Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities(2012)626 cited
- → Heterogeneity among patients with tumor necrosis factor receptor–associated periodic syndrome phenotypes(2003)194 cited
- → Mutations in SRCAP, Encoding SNF2-Related CREBBP Activator Protein, Cause Floating-Harbor Syndrome(2012)186 cited
- → Mutation Analysis of Patients with Hermansky-Pudlak Syndrome: A Frameshift Hot Spot in the HPS Gene and Apparent Locus Heterogeneity(1998)161 cited
- → Aetiopathology and genetic basis of neonatal diabetes: Table 1(1997)137 cited
- → Outcome of Burkholderia (Pseudomonas) cepacia colonisation in children with cystic fibrosis following a hospital outbreak.(1995)129 cited
- → The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP(2013)83 cited
- → A child with bisatellited, dicentric chromosome 15 arising from a maternal paracentric inversion of chromosome 15q(2000)81 cited
- → SALL1 mutation analysis in Townes-Brocks syndrome: twelve novel mutations and expansion of the phenotype(2005)69 cited
- → Genotype–phenotype analysis of the branchio‐oculo‐facial syndrome(2010)67 cited