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Dian Donnai
Dian Donnai
Professor of medical genetics University of Manchester
Verified email at cmft.nhs.uk
Title
Cited by
Cited by
Year
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
8662017
Genomic rearrangement in NEMO impairs NF-κB activation and is a cause of incontinentia pigmenti.
A Smahi, G Courtois, P Vabres, S Yamaoka, S Heuertz, A Munnich, ...
Nature 405 (6785), 466-473, 2000
8662000
A clinical study of type 2 neurofibromatosis
DGR Evans, SM Huson, D Donnai, W Neary, V Blair, V Newton, R Harris
QJM: An International Journal of Medicine 84 (1), 603-618, 1992
8001992
BMPR2 haploinsufficiency as the inherited molecular mechanism for primary pulmonary hypertension
RD Machado, MW Pauciulo, JR Thomson, KB Lane, NV Morgan, ...
The American Journal of Human Genetics 68 (1), 92-102, 2001
6522001
A genetic study of type 2 neurofibromatosis in the United Kingdom. I. Prevalence, mutation rate, fitness, and confirmation of maternal transmission effect on severity.
DG Evans, SM Huson, D Donnai, W Neary, V Blair, D Teare, V Newton, ...
Journal of medical genetics 29 (12), 841-846, 1992
5821992
Incontinentia pigmenti (Bloch-Sulzberger syndrome).
SJ Landy, D Donnai
Journal of medical genetics 30 (1), 53, 1993
5561993
CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene
MCJ Jongmans, RJ Admiraal, KP Van Der Donk, L Vissers, AF Baas, ...
Journal of medical genetics 43 (4), 306-314, 2006
4802006
Williams syndrome: From genotype through to the cognitive phenotype
D Donnai, A Karmiloff‐Smith
American journal of medical genetics 97 (2), 164-171, 2000
4652000
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR
D Ng, N Thakker, CM Corcoran, D Donnai, R Perveen, A Schneider, ...
Nature genetics 36 (4), 411-416, 2004
3282004
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
S Kantarci, L Al-Gazali, RS Hill, D Donnai, GCM Black, E Bieth, ...
Nature genetics 39 (8), 957-959, 2007
3252007
Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes
S Kantarci, L Al-Gazali, RS Hill, D Donnai, GCM Black, E Bieth, ...
Nature genetics 39 (8), 957-959, 2007
3252007
Williams syndrome: use of chromosomal microdeletions as a tool to dissect cognitive and physical phenotypes
M Tassabehji, K Metcalfe, A Karmiloff-Smith, MJ Carette, J Grant, ...
The American Journal of Human Genetics 64 (1), 118-125, 1999
3241999
Domain disruption and mutation of the bZIP transcription factor, MAF,associated with cataract, ocular anterior segment dysgenesis and coloboma
RV Jamieson, R Perveen, B Kerr, M Carette, J Yardley, E Heon, MG Wirth, ...
Human molecular genetics 11 (1), 33-42, 2002
3102002
Mutations in CDMP1 cause autosomal dominant brachydactyly type C
A Polinkovsky, NH Robin, JT Thomas, M Irons, A Lynn, FR Goodman, ...
Nature genetics 17 (1), 18-19, 1997
2961997
RAB23 mutations in Carpenter syndrome imply an unexpected role for hedgehog signaling in cranial-suture development and obesity
D Jenkins, D Seelow, FS Jehee, CA Perlyn, LG Alonso, DF Bueno, ...
The American Journal of Human Genetics 80 (6), 1162-1170, 2007
2872007
The mutational spectrum in Waardenburg syndrome
M Tassabehji, VE Newton, XZ Liu, A Brady, D Donnai, ...
Human molecular genetics 4 (11), 2131-2137, 1995
2771995
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.
AK Ryan, K Bartlett, P Clayton, S Eaton, L Mills, D Donnai, RM Winter, ...
Journal of medical genetics 35 (7), 558-565, 1998
2671998
3q29 microdeletion syndrome: clinical and molecular characterization of a new syndrome
L Willatt, J Cox, J Barber, ED Cabanas, A Collins, D Donnai, ...
The American Journal of Human Genetics 77 (1), 154-160, 2005
2652005
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract
FR Goodman, S Mundlos, Y Muragaki, D Donnai, ML Giovannucci-Uzielli, ...
Proceedings of the National Academy of Sciences 94 (14), 7458-7463, 1997
2601997
Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases
B Kerr, MA Delrue, S Sigaudy, R Perveen, M Marche, I Burgelin, M Stef, ...
Journal of medical genetics 43 (5), 401-405, 2006
2552006
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