K D MacDermot

Anderson-Fabry disease: clinical manifestations and impact of disease in a cohort of 98 hemizygous males

K D MacDermot · Journal of Medical Genetics · 2001 · 683 citations · Full text

Medicine, Neurology, Pharmacotherapy +9

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2

Robin Walters, Sébastien Jacquemont, Armand Valsesia et al. · Nature · 2010 · 560 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

The reliability of immunohistochemistry as a prescreening method for the diagnosis of hereditary nonpolyposis colorectal cancer (HNPCC) – Results of an international collaborative study

Wolfram Müller, Lawrence J. Burgart, Ruth Krause‐Paulus et al. · Familial Cancer · 2001 · 106 citations · Full text

Medicine, Oncology, Pathology +15

Natural history of Fabry disease in affected males and obligate carrier females

K D MacDermot, Alexander J. Holmes, Alec Miners · Journal of Inherited Metabolic Disease · 2001 · 100 citations

Life Sciences, Genetics, Molecular Genetics +9

Investigation of three patients with the ?ring syndrome?, including familial transmission of ring 5, and estimation of reproductive risks

K D MacDermot, Elspeth M. Jack, Alexander Cooke et al. · Human Genetics · 1990 · 96 citations

Life Sciences, Genetics, Obstetrics +14