David R FitzPatrick

Scopus Author ID Scopus Author ID Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2018-2024
Publications (10 Years): 18

Top Venues

Molecular systems biology

Nature communications

PloS one

The New England journal of medicine

University of Edinburgh

This page only lists publications with an associated author ORCID identifier.

Affiliation History

University of Edinburgh Nov 01 2011

United Kingdom

Professor :: MRC Human Genetics Unit

MRC Human Genetics Unit Mar 06 2000

United Kingdom

Publications

Birthe Dorgau, Joseph Collin, Agata Rozanska, Darin Zerti, Adrienne Unsworth, Moira Crosier, Rafiqul Hussain, Jonathan Coxhead, Tamil Dhanaseelan, Aara Patel, Jane C Sowden, David R FitzPatrick, Rachel Queen, Majlinda Lako
Single-cell analyses reveal transient retinal progenitor cells in the ciliary margin of developing human retina. Nature communications 15 (1) (2024)
Alexander F McDonnell, Marcin Plech, Benjamin J Livesey, Lukas Gerasimavicius, Liusaidh J Owen, Hildegard Nikki Hall, David R FitzPatrick, Joseph A Marsh, Grzegorz Kudla
Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants. Molecular systems biology 20 (7) (2024)
Birthe Dorgau, Joseph Collin, Agata Rozanska, Darin Zerti, Adrienne Unsworth, Moira Crosier, Rafiqul Hussain, Jonathan Coxhead, Tamil Dhanaseelan, Aara Patel, Jane C Sowden, David R FitzPatrick, Rachel Queen, Majlinda Lako
Single-cell analyses reveal transient retinal progenitor cells in the ciliary margin of developing human retina. Nature communications 15 (1) (2024)
Alexander F McDonnell, Marcin Plech, Benjamin J Livesey, Lukas Gerasimavicius, Liusaidh J Owen, Hildegard Nikki Hall, David R FitzPatrick, Joseph A Marsh, Grzegorz Kudla
Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants. Molecular systems biology 20 (7) (2024)
Alexander F McDonnell, Marcin Plech, Benjamin J Livesey, Lukas Gerasimavicius, Liusaidh J Owen, Hildegard Nikki Hall, David R FitzPatrick, Joseph A Marsh, Grzegorz Kudla
Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants. Molecular systems biology (2024)
Birthe Dorgau, Joseph Collin, Agata Rozanska, Darin Zerti, Adrienne Unsworth, Moira Crosier, Rafiqul Hussain, Jonathan Coxhead, Tamil Dhanaseelan, Aara Patel, Jane C Sowden, David R FitzPatrick, Rachel Queen, Majlinda Lako
Single-cell analyses reveal transient retinal progenitor cells in the ciliary margin of developing human retina. Nature communications 15 (1) (2024)
Alexander F McDonnell, Marcin Plech, Benjamin J Livesey, Lukas Gerasimavicius, Liusaidh J Owen, Hildegard Nikki Hall, David R FitzPatrick, Joseph A Marsh, Grzegorz Kudla
Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants. Molecular systems biology 20 (7) (2024)
Alexander F McDonnell, Marcin Plech, Benjamin J Livesey, Lukas Gerasimavicius, Liusaidh J Owen, Hildegard Nikki Hall, David R FitzPatrick, Joseph A Marsh, Grzegorz Kudla
Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants. Molecular systems biology 20 (7) (2024)
Alexander F McDonnell, Marcin Plech, Benjamin J Livesey, Lukas Gerasimavicius, Liusaidh J Owen, Hildegard Nikki Hall, David R FitzPatrick, Joseph A Marsh, Grzegorz Kudla
Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants. Molecular systems biology 20 (7) (2024)
Caroline Fiona Wright, Patrick Campbell, Ruth Y Eberhardt, Stuart Aitken, Daniel Perrett, Simon Brent, Petr Danecek, Eugene J Gardner, V Kartik Chundru, Sarah J Lindsay, Katrina Andrews, Juliet Hampstead, Joanna Kaplanis, Kaitlin E Samocha, Anna Middleton, Julia Foreman, Rachel J Hobson, Michael J Parker, Hilary C Martin, David R FitzPatrick, Matthew E Hurles, Helen V Firth, null null
Genomic Diagnosis of Rare Pediatric Disease in the United Kingdom and Ireland. The New England journal of medicine (2023)
Hildegard Nikki Hall, Hemant Bengani, Robert B Hufnagel, Giuseppe Damante, Morad Ansari, Joseph A Marsh, Graeme R Grimes, Alex von Kriegsheim, David Moore, Lisa McKie, Jamalia Rahmat, Catia Mio, Moira Blyth, Wee Teik Keng, Lily Islam, Meriel McEntargart, Marcel M Mannens, Veronica Van Heyningen, Joe Rainger, Brian P Brooks, David R FitzPatrick
Monoallelic variants resulting in substitutions of MAB21L1 Arg51 Cause Aniridia and microphthalmia. PloS one 17 (11) (2022)
Hemant Bengani, Detelina Grozeva, Lambert Moyon, Shipra Bhatia, Susana R Louros, Jilly Hope, Adam D Jackson, James G D Prendergast, Liusaidh J Owen, Magali Naville, Jacqueline Rainger, Graeme R Grimes, Mihail Halachev, Laura C Murphy, Olivera Spasic-Boskovic, Veronica Van Heyningen, Peter Kind, Catherine M Abbott, Emily K Osterweil, F Lucy Raymond, Hugues Roest Crollius, David R FitzPatrick
Identification and functional modelling of plausibly causative cis-regulatory variants in a highly-selected cohort with X-linked intellectual disability. PloS one 16 (8) (2021)
Anja Thormann, Mihail Halachev, William McLaren, David J Moore, Victoria Svinti, Archie I Campbell, Shona M Kerr, Marc Tischkowitz, Sarah E Hunt, Malcolm G Dunlop, Matthew E Hurles, Caroline Fiona Wright, Helen V Firth, Fiona Cunningham, David R FitzPatrick
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP. Nature communications 10 (1) (2019)
Mark T Handley, Kaalak Reddy, Jimi Wills, Elisabeth Rosser, Archith Kamath, Mihail Halachev, Gavin Falkous, Denise Williams, Phillip Cox, Alison M Meynert, Eleanor S Raymond, Harris Morrison, Stephen Brown, Emma Allan, Irene Aligianis, Andrew P Jackson, Bernard H Ramsahoye, Alex von Kriegsheim, Robert W Taylor, Andrew J Finch, David R FitzPatrick
ITPase deficiency causes a Martsolf-like syndrome with a lethal infantile dilated cardiomyopathy. PLoS genetics 15 (3) (2019)
Kathleen A Williamson, H Nikki Hall, Liusaidh J Owen, Benjamin J Livesey, Isabel M Hanson, G G W Adams, Simon Bodek, Patrick Calvas, Bruce Castle, Michael Clarke, Alexander T Deng, Patrick Edery, Richard Fisher, Gabriele Gillessen-Kaesbach, Elise Heon, Jane Hurst, Dragana Josifova, Birgit Lorenz, Shane McKee, Francoise Meire, Anthony T Moore, Michael Parker, Charlotte M Reiff, Jay Self, Edward S Tobias, Joke B G M Verheij, Marjolaine Willems, Denise Williams, Veronica van Heyningen, Joseph A Marsh, David R FitzPatrick
Recurrent heterozygous PAX6 missense variants cause severe bilateral microphthalmia via predictable effects on DNA-protein interaction. Genetics in medicine : official journal of the American College of Medical Genetics 22 (3) (2019)
Gabrielle Olley, Morad Ansari, Hemant Bengani, Graeme R Grimes, James Rhodes, Alex von Kriegsheim, Ana Blatnik, Fiona J Stewart, Emma Wakeling, Nicola Carroll, Alison Ross, Soo-Mi Park, null null, Wendy A Bickmore, Madapura M Pradeepa, David R FitzPatrick
BRD4 interacts with NIPBL and BRD4 is mutated in a Cornelia de Lange-like syndrome. Nature genetics 50 (3) (2018)
Hildegard Nikki Hall, Kathleen A Williamson, David R FitzPatrick
The genetic architecture of aniridia and Gillespie syndrome. Human genetics 138 (8-9) (2018)
Hilary C Martin, Wendy D Jones, Rebecca E McIntyre, Gabriela Sanchez-Andrade, Mark Sanderson, James David Stephenson, Carla P Jones, Juliet Handsaker, Giuseppe Gallone, Michaela Bruntraeger, Jeremy F McRae, Elena Prigmore, Patrick J Short, Mari E K Niemi, Joanna Kaplanis, Elizabeth J Radford, Nadia Akawi, Meena Balasubramanian, John Dean, Rachel Horton, Alice Hulbert, Diana S Johnson, Katie Johnson, Dhavendra Kumar, Sally-Ann Lynch, Sarju G Mehta, Jenny Morton, Michael J Parker, Miranda Splitt, Peter D Turnpenny, Pradeep C Vasudevan, Michael Wright, Andrew R Bassett, Sebastian S Gerety, Caroline Fiona Wright, David R FitzPatrick, Helen V Firth, Matthew E Hurles, Jeffrey C Barrett, null null
Quantifying the contribution of recessive coding variation to developmental disorders. Science (New York, N.Y.) 362 (6419) (2018)

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Publication Activity (10 Years)

Top Topics

Top Venues

David R FitzPatrick