World's Best Scientists 2026 revealed!

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Genetics

D-Index
79
Citations
20524
World Ranking
1645
National Ranking
215

Medicine

D-Index
81
Citations
22991
World Ranking
16700
National Ranking
1522

Overview

Dian Donnai is affiliated with the University of Manchester in the United Kingdom and has contributed extensively to the fields of Biochemistry, Genetics, and Molecular Biology. Their research portfolio spans 22 publications primarily focusing on molecular biology, genetics, cell biology, and pathology.

The scientist's work addresses a range of topics including cancer-related gene regulation, genomics and rare diseases, genetics and neurodevelopmental disorders, epigenetics and DNA methylation, genomics and chromatin dynamics, ubiquitin and proteasome pathways, and Wnt/β-catenin signaling in development and cancer.

Frequent publication venues for Dian Donnai include:

  • The American Journal of Human Genetics
  • Human Genetics and Genomics Advances
  • Frontiers in Molecular Neuroscience
  • European Journal of Human Genetics
  • bioRxiv (Cold Spring Harbor Laboratory)

Notable recent papers authored or co-authored by Dian Donnai are:

  • "Mutation-specific pathophysiological mechanisms define different neurodevelopmental disorders associated with SATB1 dysfunction," 2021, The American Journal of Human Genetics
  • "Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy," 2021, The American Journal of Human Genetics
  • "Novel pathogenic variants and quantitative phenotypic analyses of Robinow syndrome: WNT signaling perturbation and phenotypic variability," 2021, Human Genetics and Genomics Advances
  • "Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor," 2020, Frontiers in Molecular Neuroscience
  • "The rise of point-of-care genetics: how the SARS-CoV-2 pandemic will accelerate adoption of genetic testing in the acute setting," 2021, European Journal of Human Genetics

Dian Donnai has collaborated frequently with several researchers including Siddharth Banka, Elke de Boer, Norine Voisin, Alexander J.M. Dingemans, and Nicolas Guex.

Best Publications

  • A Clinical Study of Type 2 Neurofibromatosis

    D. G R Evans;S. M. Huson;D. Donnai;W. Neary

  • BMPR2 Haploinsufficiency as the Inherited Molecular Mechanism for Primary Pulmonary Hypertension

    Rajiv D Machado;Michael W. Pauciulo;Jennifer R. Thomson;Kirk B. Lane

  • 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

  • Incontinentia pigmenti (Bloch-Sulzberger syndrome).

    S J Landy;D Donnai

  • 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

  • Evidence for 28 genetic disorders discovered by combining healthcare and research data

    J Kaplanis;K E Samocha;L Wiel;Z Zhang

  • Williams syndrome: from genotype through to the cognitive phenotype.

    Dian Donnai;Annette Karmiloff-Smith

  • 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

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

    David Ng;Nalin Thakker;Connie M Corcoran;Dian Donnai

  • 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

  • Domain disruption and mutation of the bZIP transcription factor, MAF, associated with cataract, ocular anterior segment dysgenesis and coloboma

    Robyn V. Jamieson;Rahat Perveen;Bronwyn Kerr;Martin Carette

  • Mutations in CDMP1 cause autosomal dominant brachydactyly type C

    A. Polinkovsky;N.H. Robin;J.T. Thomas;M. Irons

  • RAB23 Mutations in Carpenter Syndrome Imply an Unexpected Role for Hedgehog Signaling in Cranial-Suture Development and Obesity

    Dagan Jenkins;Dagan Jenkins;Dominik Seelow;Fernanda Sarquis Jehee;Fernanda Sarquis Jehee;Chad A. Perlyn

  • 3q29 Microdeletion Syndrome: Clinical and Molecular Characterization of a New Syndrome

    Lionel Willatt;James Cox;John Barber;Elisabet Dachs Cabanas

  • The mutational spectrum in Waardenburg syndrome

    Mayada Tassabehji;Valerie E. Newton;Xue Zhong Liu;Xue Zhong Liu;Angela Brady

  • Synpolydactyly phenotypes correlate with size of expansions in HOXD13 polyalanine tract

    F. R. Goodman;S. Mundlos;Y. Muragaki;D. Donnai

  • Smith-Lemli-Opitz syndrome: a variable clinical and biochemical phenotype.

    A K Ryan;K Bartlett;P Clayton;S Eaton

  • Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

    B. Kerr;M. A. Delrue;S. Sigaudy;R. Perveen

  • GTF2IRD1 in Craniofacial Development of Humans and Mice

    May Tassabehji;Peter Hammond;Annette Karmiloff-Smith;Pamela Thompson

  • A clinical study of type 1 neurofibromatosis in north west England

    J M McGaughran;D I Harris;D Donnai;D Teare

Frequent Co-Authors

Jill Clayton-Smith
Jill Clayton-Smith University of Manchester
Graeme C.M. Black
Graeme C.M. Black University of Manchester
Han G. Brunner
Han G. Brunner Radboud University
Linda Davies
Linda Davies University of Manchester
Bronwyn Kerr
Bronwyn Kerr University of Manchester
Raoul C.M. Hennekam
Raoul C.M. Hennekam University of Amsterdam
Robin M. Winter
Robin M. Winter Northwick Park Hospital
William G. Newman
William G. Newman University of Manchester
Peter E. Clayton
Peter E. Clayton University of Manchester

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