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Kay D. MacDermot

Observed names: K D MacDermot, K D Macdermot, K MacDermot, K Macdermot, K. D. MacDermot, K. D. Macdermot, K. MACDERMOT, K. MacDermot, K.D macDermot, K.D. MACDERMOT, K.D. MacDermot, KAY MACDERMOT, KD MacDermot, Kay D MacDermot, Kay D. Macdermot, Kay MacDermot, KayD. MacDermot, Kd MacDermot, MacDermot KD, MacDermot, K
Observed institutions: University of London, Guy's Hospital, National Institutes of Health, Centre for Human Genetics, Johns Hopkins University, University of Leicester, Royal Free London NHS Foundation Trust, University of Cambridge, Johns Hopkins Medicine, Leicester Royal Infirmary, London North West Healthcare NHS Trust, The Royal Free Hospital, Northwick Park Hospital, University of Oxford, St Mary's Hospital, Birmingham Children's Hospital, Eunice Kennedy Shriver National Institute of Child Health and Human Development, Addenbrooke's Hospital, St Mark's Hospital, University College London, Imperial College London, University of Birmingham, Medical Research Council
OpenAlex ID: A5110157645
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 60 obligate carrier females
2001 · K D MacDermot, A Holmes, et al. · Journal of Medical Genetics · 674
Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males
2001 · K D MacDermot, A Holmes, et al. · Journal of Medical Genetics · 667
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A new highly penetrant form of obesity due to deletions on chromosome 16p11.2
2010 · R. G. Walters, S. Jacquemont, et al. · Nature · 532
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus
2011 · Sébastien Jacquemont, Alexandre Reymond, et al. · Nature · 457
Identification of FOXP2 Truncation as a Novel Cause of Developmental Speech and Language Deficits
2005 · Kay D. MacDermot, Elena Bonora, et al. · The American Journal of Human Genetics · 406
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Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome
2012 · Jeroen K J Van Houdt, Beata Anna Nowakowska, et al. · Nature Genetics · 239
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD
2011 · Marjolijn Renard, Bert Callewaert, et al. · International Journal of Cardiology · 171
The reliability of immunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) – Results of an international collaborative study
2001 · Wolfram Müller, Lawrence J. Burgart, et al. · Familial Cancer · 103
Natural history of Fabry disease in affected males and obligate carrier females
2001 · K. D. MacDermot, A. Holmes, et al. · Journal of Inherited Metabolic Disease · 99
Investigation of three patients with the ?ring syndrome?, including familial transmission of ring 5, and estimation of reproductive risks
1990 · K.D. MacDermot, E. Jack, et al. · Human Genetics · 96
Prenatal diagnosis of autosomal dominant polycystic kidney disease (PKD1) presenting in utero and prognosis for very early onset disease.
1998 · K D MacDermot, A K Saggar-Malik, et al. · Journal of Medical Genetics · 93
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Gross rearrangements of the MECP2 gene are found in both classical and atypical Rett syndrome patients
2005 · H L Archer, S D Whatley, et al. · Journal of Medical Genetics · 86
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Assessment of health-related quality-of-life in males with Anderson Fabry Disease before therapeutic intervention
2002 · A.H. Miners, A. Holmes, et al. · Quality of Life Research · 72
Dual copy number variants involving 16p11 and 6q22 in a case of childhood apraxia of speech and pervasive developmental disorder
2012 · Dianne F Newbury, Francesca Mari, et al. · European Journal of Human Genetics · 70
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Periventricular Heterotopia in Common Microdeletion Syndromes
2010 · M. van Kogelenberg, S. Ghedia, et al. · Molecular Syndromology · 66
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Modification of the blood-brain barrier: increased concentration and fate of enzymes entering the brain.
1979 · J A Barranger, S I Rapoport, et al. · Proceedings of the National Academy of Sciences · 66
Nicolaides–Baraitser syndrome: Delineation of the phenotype
2009 · Sérgio B. Sousa, Omar A. Abdul‐Rahman, et al. · American Journal of Medical Genetics Part A · 63
Neuropathic pain in Anderson-Fabry disease: pathology and therapeutic options
2001 · John MacDermot, Kay D MacDermot · European Journal of Pharmacology · 62
Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
2011 · Slimane Allali, Carine Le Goff, et al. · Journal of Medical Genetics · 60
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Oculofacialbulbar palsy in mother and son: review of 26 reports of familial transmission within the 'Möbius spectrum of defects'.
1991 · K D MacDermot, R M Winter, et al. · Journal of Medical Genetics · 59
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Punctate palmoplantar keratoderma and malignancy in a four-generation family
1996 · H.P. STEVENS, D.P. KELSKLL, et al. · British Journal of Dermatology · 52
Fabry Disease in Genetic Counseling Practice: Recommendations of the National Society of Genetic Counselors
2002 · Robin L. Bennett, Kimberly A. Hart, et al. · Journal of Genetic Counseling · 50
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Fabry Disease: Fourteen α-Galactosidase A Mutations in Unrelated Families from the United Kingdom and Other European Countries
1996 · Joanna P. Davies, Christine M. Eng, et al. · European Journal of Human Genetics · 45
Assessing the impact of FOXP1 mutations on developmental verbal dyspraxia
2009 · Sonja C Vernes, Kay D MacDermot, et al. · European Journal of Human Genetics · 44
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Hearing improvement in patients with Fabry disease treated with agalsidase alfa
2003 · Hajioff D, Goodwin S, et al. · Acta Paediatrica · 37
Works count: 64
Citation count: 4,921
H-index: 30
I10-index: 47
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