David Fitzpatrick

York University — Canada

Biochemistry, Genetics and Molecular Biology · Life Sciences

101h-index41.4kcitations571works10.02yr avg
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Research Topics

Genomics and Rare Diseases(83), Genomic variations and chromosomal abnormalities(77), Genetics and Neurodevelopmental Disorders(48), Ocular Disorders and Treatments(43), Genomics and Chromatin Dynamics(41)

Publications545 total

Can Shifting Beliefs About Planned Sex Lead to Engaging in More Frequent Sex and Higher Desire and Satisfaction? An Experimental Study of Parents with Young Children
The Journal of Sex Research·2025
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
PubMed·2025· 9 citedOpen Access
Whole Genome Sequencing of “Mutation‐Negative” Individuals With Cornelia de Lange Syndrome
Human Mutation·2025· 1 citedOpen Access
Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants
Molecular Systems Biology·2024· 14 citedOpen Access
Single-cell analyses reveal transient retinal progenitor cells in the ciliary margin of developing human retina
Nature Communications·2024· 33 citedOpen Access
Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features
Human Genetics and Genomics Advances·2024· 3 citedOpen Access
A human embryonic limb cell atlas resolved in space and time
Nature·2023· 108 citedOpen Access
Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia
Journal of Medical Genetics·2023· 5 citedOpen Access
The VC-Dimension and Point Configurations in $${\mathbb F}_q^2$$
Discrete & Computational Geometry·2023· 1 cited
Heterozygous loss-of-function <i>SMC3</i> variants are associated with variable and incompletely penetrant growth and developmental features
2023Open Access
Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants
2023· 3 citedOpen Access
Spatiotemporal single cell analyses reveal a transient population of retinal progenitor cells in the ciliary margin of developing human retina
2023· 3 citedOpen Access
Characterization of an eye field-like state during optic vesicle organoid development
Development·2023· 4 citedOpen Access
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland
New England Journal of Medicine·2023· 204 citedOpen Access
EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders
Journal of Medical Genetics·2023· 8 citedOpen Access
Expanding the neurodevelopmental phenotype associated with HK1 de novo heterozygous missense variants
European Journal of Medical Genetics·2023· 5 cited
Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study
Genetics in Medicine Open·2023· 2 citedOpen Access
P451: The Gene Curation Coalition works to resolve discrepancies in gene-disease validity assertions
Genetics in Medicine Open·2023Open Access
Clustered variants in the 5′ coding region of TRA2B cause a distinctive neurodevelopmental syndrome
Genetics in Medicine·2022· 6 citedOpen Access
Genome sequencing with gene panel-based analysis for rare inherited conditions in a publicly funded healthcare system: implications for future testing
European Journal of Human Genetics·2022· 11 citedOpen Access
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Frequent Co-authors

Helen V. Firth(10), Caroline F. Wright(10), Matthew E. Hurles(9), Jeffrey C. Barrett(7), Jeremy F. McRae(6), Michael Parker(5), Elena Prigmore(4), Alejandro Sifrim(4), Veronica van Heyningen(4), Jamie Bentham(4), Shoumo Bhattacharya(4), Catherine Cosgrove(4), Giuseppe Gallone(4), Hilary C. Martin(4), Kathleen A. Williamson(4), Jane A. Hurst(3), Sanjay M. Sisodiya(3), Bert B.A. de Vries(3), Tomas Fitzgerald(3), Diana Rajan(3)