Publications by authors named "David R Fitzpatrick"

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Whole Genome Sequencing of "Mutation-Negative" Individuals With Cornelia de Lange Syndrome.
Morad Ansari, Mihail Halachev, David Parry, Jose L Campos, Elston N D'Souza, David R FitzPatrick

Hum Mutat· July 2025

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-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, David R Fitzpatrick

ArXiv· February 2025

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A human embryonic limb cell atlas resolved in space and time.
Bao Zhang, Peng He, John E G Lawrence, Shuaiyu Wang, Elizabeth Tuck, David R FitzPatrick

Nature· November 2024

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Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants.
Alexander F McDonnell, Marcin Plech, Benjamin J Livesey, Lukas Gerasimavicius, Liusaidh J Owen, David R FitzPatrick

Mol Syst Biol· July 2024

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Heterozygous loss-of-function SMC3 variants are associated with variable growth and developmental features.
Morad Ansari, Kamli N W Faour, Akiko Shimamura, Graeme Grimes, Emeline M Kao, David R FitzPatrick

HGG Adv· April 2024

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Single-cell analyses reveal transient retinal progenitor cells in the ciliary margin of developing human retina.
Birthe Dorgau, Joseph Collin, Agata Rozanska, Darin Zerti, Adrienne Unsworth, David R FitzPatrick

Nat Commun· April 2024

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Short-read whole genome sequencing identifies causative variants in most individuals with previously unexplained aniridia.
Hildegard Nikki Hall, David Parry, Mihail Halachev, Kathleen A Williamson, Kevin Donnelly, David R FitzPatrick

J Med Genet· February 2024

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Heterozygous loss-of-function variants are associated with variable and incompletely penetrant growth and developmental features.
Morad Ansari, Kamli N W Faour, Akiko Shimamura, Graeme Grimes, Emeline M Kao, David R FitzPatrick

medRxiv· September 2023

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EyeG2P: an automated variant filtering approach improves efficiency of diagnostic genomic testing for inherited ophthalmic disorders.
Eva Lenassi, Ana Carvalho, Anja Thormann, Liam Abrahams, Gavin Arno, David R Fitzpatrick

J Med Genet· August 2023

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Characterization of an eye field-like state during optic vesicle organoid development.
Liusaidh J Owen, Jacqueline Rainger, Hemant Bengani, Fiona Kilanowski, David R FitzPatrick

Development· August 2023

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Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland.
Caroline F Wright, Patrick Campbell, Ruth Y Eberhardt, Stuart Aitken, Daniel Perrett, David R FitzPatrick

N Engl J Med· April 2023

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Importance of adopting standardized MANE transcripts in clinical reporting.
Caroline F Wright, David R FitzPatrick, James S Ware, Heidi L Rehm, Helen V Firth

Genet Med· February 2023

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IMPROVE-DD: Integrating multiple phenotype resources optimizes variant evaluation in genetically determined developmental disorders.
Stuart Aitken, Helen V Firth, Caroline F Wright, Matthew E Hurles, David R FitzPatrick

HGG Adv· January 2023

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Detection of mosaic chromosomal alterations in children with severe developmental disorders recruited to the DDD study.
Ruth Y Eberhardt, Caroline F Wright, David R FitzPatrick, Matthew E Hurles, Helen V Firth

Genet Med Open· January 2023

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Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia.
Hildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, Giuseppe Damante, Morad Ansari, David R FitzPatrick

PLoS One· November 2022

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Robust Genetic Analysis of the X-Linked Anophthalmic () Mouse.
Brianda A Hernandez-Moran, Andrew S Papanastasiou, David Parry, Alison Meynert, Philippe Gautier, David R FitzPatrick

Genes (Basel)· October 2022

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The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources.
Marina T DiStefano, Scott Goehringer, Lawrence Babb, Fowzan S Alkuraya, Joanna Amberger, David R Fitzpatrick

Genet Med· August 2022

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Recommendations for clinical interpretation of variants found in non-coding regions of the genome.
Jamie M Ellingford, Joo Wook Ahn, Richard D Bagnall, Diana Baralle, Stephanie Barton, David R FitzPatrick

Genome Med· July 2022

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Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability.
Hemant Bengani, Detelina Grozeva, Lambert Moyon, Shipra Bhatia, Susana R Louros, David R FitzPatrick

PLoS One· December 2021

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Mutational bias in spermatogonia impacts the anatomy of regulatory sites in the human genome.
Vera B Kaiser, Lana Talmane, Yatendra Kumar, Fiona Semple, Marie MacLennan, David R FitzPatrick

Genome Res· November 2021

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Detecting cryptic clinically relevant structural variation in exome-sequencing data increases diagnostic yield for developmental disorders.
Eugene J Gardner, Alejandro Sifrim, Sarah J Lindsay, Elena Prigmore, Diana Rajan, David R FitzPatrick

Am J Hum Genet· November 2021

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Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect.
Gabrielle Olley, Madapura M Pradeepa, Graeme R Grimes, Sandra Piquet, Sophie E Polo, David R FitzPatrick

Nat Commun· May 2021

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TAOK1 is associated with neurodevelopmental disorder and essential for neuronal maturation and cortical development.
Geeske M van Woerden, Melanie Bos, Charlotte de Konink, Ben Distel, Rossella Avagliano Trezza, David R Fitzpatrick

Hum Mutat· April 2021

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The contribution of X-linked coding variation to severe developmental disorders.
Hilary C Martin, Eugene J Gardner, Kaitlin E Samocha, Joanna Kaplanis, Nadia Akawi, David R FitzPatrick

Nat Commun· January 2021

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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Laura Cif, Diane Demailly, Jean-Pierre Lin, Katy E Barwick, Mario Sa, David R Fitzpatrick

Brain· December 2020

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