Kay MacDermot

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey et al. · Nature · 2011 · 474 citations · Full text

Gene Dosage, Genetics, Human Polymorphism +8

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

Kay MacDermot, Elena Bonora, Nuala Sykes et al. · The American Journal of Human Genetics · 2005 · 414 citations · Full text

Neurolinguistics, Language Development, Atypical Language Development +16

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome

J. K. J. VAN HOUDT, Beata Nowakowska, Sérgio B. Sousa et al. · Nature Genetics · 2012 · 243 citations

Mendelian Disorder, Genetic Disorder, Medicine +5

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

Marjolijn Renard, Bert Callewaert, Machteld Baetens et al. · International Journal of Cardiology · 2011 · 166 citations · Full text

Acta2 Mutations, Molecular Physiology, Signal Transduction +9

Nicolaides–Baraitser syndrome: Delineation of the phenotype

Sérgio B. Sousa, Omar Abdul‐Rahman, Armand Bottani et al. · American Journal of Medical Genetics Part A · 2009 · 62 citations · Full text

Nicolaides-baraitser Syndrome, Severe Mental Retardation, Mendelian Disorder +14