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David Fitzpatrick | Researchclopedia

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David Fitzpatrick

York University ORCID

569

Works

39,406

Citations

101

h-index

303

i10-index

Research Topics

Genomics and Rare Diseases Genomic variations and chromosomal abnormalities Genetics and Neurodevelopmental Disorders

Affiliations

Boston University1996–1996

Royal Historical Society1996–1996

Montreal Neurological Institute and Hospital1980–1981

National Institutes of Health2008–2008

European Bioinformatics Institute2015–2022

Top Works

A Critical Role for Dnmt1 and DNA Methylation in T Cell Development, Function, and Survival

Peggy P. Lee,David Fitzpatrick,et al.

20011,268 citations

Ocular Disorders and Treatments

Genomics and Chromatin Dynamics

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

Sebastian Köhler,Sandra C. Doelken,et al.

2013837 citations

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

Caroline F. Wright,Tomas Fitzgerald,et al.

2014787 citations

Paediatric genomics: diagnosing rare disease in children

Caroline F. Wright,David Fitzpatrick,et al.

2018622 citations

Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B

Sandra Hanks,Kim Coleman,et al.

2004606 citations

Mutations in SOX2 cause anophthalmia

Judy Fantes,Nicola Ragge,et al.

2003539 citations

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

the INTERVAL Study,Alejandro Sifrim,et al.

2016464 citations

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

Kristien Verhoeven,Peter De Jonghe,et al.

2003452 citations

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

Fadi F. Hamdan,Candace T. Myers,et al.

2017451 citations