D-Index & Metrics Best Publications

Dian Donnai

University of Manchester
United Kingdom

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

Discipline name Citations Publications World Ranking National Ranking

Medicine D-index 73 Citations 17,010 245 World Ranking 15916 National Ranking 1441

Genetics D-index 73 Citations 16,710 226 World Ranking 1367 National Ranking 187

Best Publications

A Clinical Study of Type 2 Neurofibromatosis

D. G R Evans;S. M. Huson;D. Donnai;W. Neary.
QJM: An International Journal of Medicine (1992)

736 Citations

BMPR2 Haploinsufficiency as the Inherited Molecular Mechanism for Primary Pulmonary Hypertension

Rajiv D Machado;Michael W. Pauciulo;Jennifer R. Thomson;Kirk B. Lane.
American Journal of Human Genetics (2001)

625 Citations

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. G. R. Evans;S. M. Huson;D. Donnai;W. Neary.
Journal of Medical Genetics (1992)

541 Citations

Incontinentia pigmenti (Bloch-Sulzberger syndrome).

S J Landy;D Donnai.
Journal of Medical Genetics (1993)

535 Citations

Williams syndrome: from genotype through to the cognitive phenotype.

Dian Donnai;Annette Karmiloff-Smith.
American Journal of Medical Genetics (2000)

452 Citations

CHARGE syndrome: the phenotypic spectrum of mutations in the CHD7 gene

M C J Jongmans;R J Admiraal;K P van der Donk;L E L M Vissers.
Journal of Medical Genetics (2005)

446 Citations

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

Mayada Tassabehji;Kay Metcalfe;Annette Karmiloff-Smith;Martin J. Carette.
American Journal of Human Genetics (1999)

324 Citations

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

David Ng;Nalin Thakker;Connie M Corcoran;Dian Donnai.
Nature Genetics (2004)

317 Citations

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;R Sean Hill;Dian Donnai.
Nature Genetics (2007)

301 Citations

Mutations in CDMP1 cause autosomal dominant brachydactyly type C

A. Polinkovsky;N.H. Robin;J.T. Thomas;M. Irons.
Nature Genetics (1997)

286 Citations

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Dian Donnai

D-Index & Metrics D-index (Discipline H-index) only includes papers and citation values for an examined discipline in contrast to General H-index which accounts for publications across all disciplines.

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