Kay MacDermot
Wessex Regional Genetics Laboratory(GB)Imperial College London(GB)
Publications by Year
Research Areas
Lysosomal Storage Disorders Research, Congenital heart defects research, Biochemical and Molecular Research, Language Development and Disorders, Genomic variations and chromosomal abnormalities
Most-Cited Works
- → Identification of FOXP2 Truncation as a Novel Cause of Developmental Speech and Language Deficits(2005)415 cited
- → Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome(2012)243 cited
- → Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD(2011)169 cited
- → Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder(2012)72 cited
- → Nicolaides–Baraitser syndrome: Delineation of the phenotype(2009)62 cited
- → Neuropathic pain in Anderson-Fabry disease: pathology and therapeutic options(2001)61 cited
- → Fabry Disease in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors(2002)53 cited
- → Fabry Disease: Fourteenα-Galactosidase A Mutations inUnrelated Families from theUnited Kingdom and OtherEuropean Countries(1996)48 cited
- → Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia(2009)45 cited
- → Radial ray defect and Duane anomaly: Report of a family with autosomal dominant transmission(1987)30 cited