Dian Donnai - Concepedia

Author

Dian Donnai

Also Known As

Alan Donaldson, Bronwyn Kerr, C. Depienne, D DONNAI, D Donnai, D. DONNAI, D. Donnai, DIAN DONNAI, Deirdre Donnelly, Dhavendra Kumar

293

Publications

16.5K

Citations

H-Index

190

Concepts

All Affiliations

St Mary's Hospital St. Mary's Hospital University of Manchester St. Mary’s Hospital Manchester Academic Health Science Centre

About

Dian Donnai is an author at St Mary's Hospital specializing in medicine, pathology, and genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	46	87	8.1K
2	Health Sciences	2	2	28
3	Education	1	1	27
4	Engineering	1	1	16
5	Natural Sciences	1	1	81

Dian Donnai

151

Publications

12.4K

Citations

H-Index

Page 1

	Year	Citations
A Clinical Study of Type 2 Neurofibromatosis D. Gareth Evans, SM Huson, Dian Donnai, QJM Neurological DisorderClinical NeurologyDiagnosisPathologyClinical Features	1992	641
BMPR2 Haploinsufficiency as the Inherited Molecular Mechanism for Primary Pulmonary Hypertension Rajiv D. Machado, Michael W. Pauciulo, Jennifer R. Thomson, The American Journal of Human Genetics HypertensionPulmonary Arterial HypertensionPulmonary CirculationPrimary Pulmonary HypertensionInherited Molecular Mechanism	2001	533
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, Journal of Medical Genetics Neuro-oncologyMendelian DisorderGenetic DisorderVestibular SchwannomaClinical Genetics	1992	466
Oculofaciocardiodental and Lenz microphthalmia syndromes result from distinct classes of mutations in BCOR David Ng, Nalin Thakker, Connie M. Corcoran, Nature Genetics Mendelian DisorderLenz Microphthalmia SyndromesDistinct ClassesGeneticsPhysiology	2004	320
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, Nature Genetics GlomerulonephritisUrologyMendelian DisorderMultiligand Receptor MegalinKidney Research	2007	315
3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome Lionel Willatt, James J. Cox, John Barber, The American Journal of Human Genetics Molecular CharacterizationGene Deletion DataGenetic DisorderGeneticsPathogenesis	2005	295
RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity Dagan Jenkins, Dominik Seelow, Fernanda Sarquis Jehee, The American Journal of Human Genetics Knockout MouseDevelopmental AnomalyDevelopmental BiologyHedgehog SignalingGenetic Disorder	2007	269
Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype. A K Ryan, K. Bartlett, Peter T. Clayton, Journal of Medical Genetics Clinical DisordersSmith-lemli-opitz SyndromeMendelian DisorderSerum 7-DehydrocholesterolGenetic Disorder	1998	234
The mutational spectrum in Waardenburg syndrome Mayada Tassabehji, Valerie Newton, X.-Z. Liu, Human Molecular Genetics Developmental AnomalyType 1Mendelian DisorderGenetic DisorderMedicine	1995	223
Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract Frances R. Goodman, Stefan Mundlos, Yasuteru Muragaki, Proceedings of the National Academy of Sciences	1997	212

Page 1