Dian Donnai

A Clinical Study of Type 2 Neurofibromatosis

D. Gareth Evans, SM Huson, Dian Donnai et al. · QJM · 1992 · 641 citations

Neurological Disorder, Clinical Neurology, Diagnosis +16

BMPR2 Haploinsufficiency as the Inherited Molecular Mechanism for Primary Pulmonary Hypertension

Rajiv D. Machado, Michael W. Pauciulo, Jennifer R. Thomson et al. · The American Journal of Human Genetics · 2001 · 533 citations · Full text

Hypertension, Pulmonary Arterial Hypertension, Pulmonary Circulation +12

A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity.

D. Gareth Evans, Susan Huson, Dian Donnai et al. · Journal of Medical Genetics · 1992 · 466 citations · Full text

Neuro-oncology, Mendelian Disorder, Genetic Disorder +14

Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR

David Ng, Nalin Thakker, Connie M. Corcoran et al. · Nature Genetics · 2004 · 320 citations · Full text

Mendelian Disorder, Lenz Microphthalmia Syndromes, Distinct Classes +8

Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes

Sibel Kantarci, Lihadh Al‐Gazali, R. Sean Hill et al. · Nature Genetics · 2007 · 315 citations · Full text

Glomerulonephritis, Urology, Mendelian Disorder +10