D Donnai

CHARGE syndrome: the phenotypic spectrum of mutations in the <i>CHD7</i> gene

M.C.J. Jongmans, R.J.C. Admiraal, Kim P. van der Donk et al. · Journal of Medical Genetics · 2005 · 458 citations · Full text

Williams Syndrome: Use of Chromosomal Microdeletions as a Tool to Dissect Cognitive and Physical Phenotypes

Mayada Tassabehji, Kay Metcalfe, Annette Karmiloff‐Smith et al. · The American Journal of Human Genetics · 1999 · 240 citations · Full text

Down Syndrome, Mendelian Disorder, Genetic Disorder +7

Proteus syndrome: An expanded phenotype

Robin D. Clark, D Donnai, John Rogers et al. · American Journal of Medical Genetics · 1987 · 122 citations

Hypomelanosis of Ito: a manifestation of mosaicism or chimerism.

D Donnai, Andrew Read, C McKeown et al. · Journal of Medical Genetics · 1988 · 115 citations · Full text

Chromatin, X Inactivation, Chromosome Dynamics +13

A mutation within exon 14 of the TGFBI (BIGH3) gene on chromosome 5q31 causes an asymmetric, late-onset form of lattice corneal dystrophy

Helen Stewart, Graeme C. Black, D Donnai et al. · Ophthalmology · 1999 · 102 citations

Lattice Corneal Dystrophy, Mendelian Disorder, Ophthalmology +7