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Genetics

D-Index
90
Citations
27437
World Ranking
1077
National Ranking
150

Research.com Recognitions

  • 2019 - Fellow of the Royal Society of Edinburgh

Overview

David R. FitzPatrick is affiliated with the University of Edinburgh in the United Kingdom. Their research primarily falls within the field of Biochemistry, Genetics, and Molecular Biology, with significant contributions in subfields such as Molecular Biology, Genetics, Cell Biology, Ophthalmology, and Plant Science.

Their research output reflects a focus on genomics and rare diseases, genomic variations and chromosomal abnormalities, and genetics related to neurodevelopmental disorders. Additional topics include genomics and chromatin dynamics, congenital heart defects research, RNA research and splicing, and retinal development and disorders.

Frequent venues for publication include bioRxiv (Cold Spring Harbor Laboratory), where they have published 17 works, alongside Genetics in Medicine with 6 publications, Nature Communications with 3, Brain and Human Mutation with 2 publications each.

David R. FitzPatrick has collaborated extensively with several researchers throughout their career. Notable frequent co-authors include Helen V. Firth, Caroline F. Wright, Matthew E. Hurles, Ruth Y. Eberhardt, and Graeme R. Grimes.

Some recent papers by FitzPatrick and collaborators include:

  • Recommendations for clinical interpretation of variants found in non-coding regions of the genome, 2022, Genome Medicine
  • Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland, 2023, New England Journal of Medicine
  • The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources, 2022, Genetics in Medicine
  • A human embryonic limb cell atlas resolved in space and time, 2023, Nature
  • KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation, 2020, Brain

In recognition of scientific contributions, they were awarded the title of Fellow of the Royal Society of Edinburgh in 2019.

Best Publications

  • The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data

    Sebastian Köhler;Sandra C. Doelken;Christopher J. Mungall;Sebastian Bauer

  • Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

    Caroline F Wright;Tomas W Fitzgerald;Wendy D Jones;Stephen Clayton

  • Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

    Sandra Hanks;Kim Coleman;Sarah Reid;Alberto Plaja

  • Mutations in SOX2 cause anophthalmia

    Judy Fantes;Nicola K Ragge;Nicola K Ragge;Sally-Ann Lynch;Niolette I McGill

  • Disruption of an AP-2 alpha binding site in an IRF6 enhancer is associated with cleft lip

    Fedik Rahimov;Mary L Marazita;Axel Visel;Margaret E Cooper

  • Mutations in the Small GTP-ase Late Endosomal Protein RAB7 Cause Charcot-Marie-Tooth Type 2B Neuropathy

    Kristien Verhoeven;Peter De Jonghe;Katrien Coen;Nathalie Verpoorten

  • Paediatric genomics: diagnosing rare disease in children.

    Caroline F. Wright;David R. FitzPatrick;Helen V. Firth

  • Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing

    Alejandro Sifrim;Marc-Phillip Hitz;Anna Wilsdon;Jeroen Breckpot

  • Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence.

    Sabina Benko;Judy A. Fantes;Jeanne Amiel;Dirk Jan Kleinjan

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

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

  • High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies

    Fadi F. Hamdan;Candace T. Myers;Patrick Cossette;Philippe Lemay

  • Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia, and mental retardation

    Francesca Pasutto;Heinrich Sticht;Gerhard Hammersen;Gabriele Gillessen-Kaesbach

  • The UK10K project identifies rare variants in health and disease

    Klaudia Walter;Josine L. Min;Jie Huang;Lucy Crooks

  • Human-specific gain of function in a developmental enhancer.

    Shyam Prabhakar;Axel Visel;Jennifer A. Akiyama;Malak Shoukry

  • Anophthalmia and microphthalmia

    Amit S Verma;David R FitzPatrick

  • Mutations that Cause Osteoglophonic Dysplasia Define Novel Roles for FGFR1 in Bone Elongation

    Kenneth E. White;Jose M. Cabral;Siobhan I. Davis;Tonya Fishburn

  • Mutations in the 3β-Hydroxysterol Δ24-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis

    Hans R. Waterham;Janet Koster;Gerrit Jan Romeijn;Raoul C.M. Hennekam

  • Heterozygous mutations of OTX2 cause severe ocular malformations.

    Nicola K. Ragge;Nicola K. Ragge;Nicola K. Ragge;Alison G. Brown;Charlotte M. Poloschek;Birgit Lorenz

  • Cornelia de Lange syndrome: Clinical review, diagnostic and scoring systems, and anticipatory guidance

    Antonie D. Kline;Ian D. Krantz;Annemarie Sommer;Mark Kliewer

  • National study of microphthalmia, anophthalmia, and coloboma (MAC) in Scotland: investigation of genetic aetiology

    D Morrison;D FitzPatrick;I Hanson;K Williamson

Frequent Co-Authors

Helen V. Firth
Helen V. Firth University of Cambridge
Matthew E. Hurles
Matthew E. Hurles Wellcome Sanger Institute
Caroline F. Wright
Caroline F. Wright Wellcome Sanger Institute
Veronica van Heyningen
Veronica van Heyningen University College London
Jill Clayton-Smith
Jill Clayton-Smith University of Manchester
I. Karen Temple
I. Karen Temple University of Southampton
Michael Parker
Michael Parker University of Oxford
Raoul C.M. Hennekam
Raoul C.M. Hennekam University of Amsterdam
Sally Ann Lynch
Sally Ann Lynch University College Dublin
Graeme C.M. Black
Graeme C.M. Black University of Manchester

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