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Kay MacDermot | Researchclopedia

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Kay MacDermot

Wessex Regional Genetics Laboratory

18

Works

1,768

Citations

14

h-index

15

i10-index

Research Topics

Lysosomal Storage Disorders Research Congenital heart defects research Biochemical and Molecular Research

Affiliations

University of London1998–1998

Centre for Human Genetics2005–2009

Johns Hopkins University1979–1979

London North West Healthcare NHS Trust2009–2009

The Royal Free Hospital1996–1998

Top Works

Identification of FOXP2 Truncation as a Novel Cause of Developmental Speech and Language Deficits

Kay MacDermot,Elena Bonora,et al.

2005415 citations

Language Development and Disorders

Genomic variations and chromosomal abnormalities

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

J. K. J. VAN HOUDT,Beata Nowakowska,et al.

2012243 citations

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD

Marjolijn Renard,Bert Callewaert,et al.

2011170 citations

Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder

Dianne F. Newbury,Francesca Mari,et al.

201272 citations

Nicolaides–Baraitser syndrome: Delineation of the phenotype

Sérgio B. Sousa,Omar Abdul‐Rahman,et al.

200962 citations

Neuropathic pain in Anderson-Fabry disease: pathology and therapeutic options

John MacDermot,Kay MacDermot

200161 citations

Fabry Disease in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors

Robin L. Bennett,P. Morehart,et al.

200253 citations

Fabry Disease: Fourteenα-Galactosidase A Mutations inUnrelated Families from theUnited Kingdom and OtherEuropean Countries

Joanna P. Davies,Christine M. Eng,et al.

199648 citations

Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia

Sonja C. Vernes,Kay MacDermot,et al.

200945 citations