The genetic architecture of microphthalmia, anophthalmia and coloboma
Williamson, Kathleen A, FitzPatrick, David R
Published in European journal of medical genetics (01.08.2014)
Published in European journal of medical genetics (01.08.2014)
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Variant detection sensitivity and biases in whole genome and exome sequencing
Meynert, Alison M, Ansari, Morad, FitzPatrick, David R, Taylor, Martin S
Published in BMC bioinformatics (19.07.2014)
Published in BMC bioinformatics (19.07.2014)
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Journal Article
De novo mutations in regulatory elements in neurodevelopmental disorders
Short, Patrick J., McRae, Jeremy F., Gallone, Giuseppe, Sifrim, Alejandro, Won, Hyejung, Geschwind, Daniel H., Wright, Caroline F., Firth, Helen V., FitzPatrick, David R., Barrett, Jeffrey C., Hurles, Matthew E.
Published in Nature (London) (29.03.2018)
Published in Nature (London) (29.03.2018)
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Common genetic variants contribute to risk of rare severe neurodevelopmental disorders
Niemi, Mari E. K., Martin, Hilary C., Rice, Daniel L., Gallone, Giuseppe, Gordon, Scott, Kelemen, Martin, McAloney, Kerrie, McRae, Jeremy, Radford, Elizabeth J., Yu, Sui, Gecz, Jozef, Martin, Nicholas G., Wright, Caroline F., Fitzpatrick, David R., Firth, Helen V., Hurles, Matthew E., Barrett, Jeffrey C.
Published in Nature (London) (01.10.2018)
Published in Nature (London) (01.10.2018)
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Journal Article
Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP
Thormann, Anja, Halachev, Mihail, McLaren, William, Moore, David J., Svinti, Victoria, Campbell, Archie, Kerr, Shona M., Tischkowitz, Marc, Hunt, Sarah E., Dunlop, Malcolm G., Hurles, Matthew E., Wright, Caroline F., Firth, Helen V., Cunningham, Fiona, FitzPatrick, David R.
Published in Nature communications (30.05.2019)
Published in Nature communications (30.05.2019)
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Recommendations for clinical interpretation of variants found in non-coding regions of the genome
Ellingford, Jamie M, Ahn, Joo Wook, Bagnall, Richard D, Baralle, Diana, Barton, Stephanie, Campbell, Chris, Downes, Kate, Ellard, Sian, Duff-Farrier, Celia, FitzPatrick, David R, Greally, John M, Ingles, Jodie, Krishnan, Neesha, Lord, Jenny, Martin, Hilary C, Newman, William G, O'Donnell-Luria, Anne, Ramsden, Simon C, Rehm, Heidi L, Richardson, Ebony, Singer-Berk, Moriel, Taylor, Jenny C, Williams, Maggie, Wood, Jordan C, Wright, Caroline F, Harrison, Steven M, Whiffin, Nicola
Published in Genome medicine (19.07.2022)
Published in Genome medicine (19.07.2022)
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Fine Tuning of Craniofacial Morphology by Distant-Acting Enhancers
Attanasio, Catia, Nord, Alex S., Zhu, Yiwen, Blow, Matthew J., Li, Zirong, Liberton, Denise K., Morrison, Harris, Plajzer-Frick, Ingrid, Holt, Amy, Hosseini, Roya, Phouanenavong, Sengthavy, Akiyama, Jennifer A., Shoukry, Malak, Afzal, Veena, Rubin, Edward M., FitzPatrick, David R., Ren, Bing, Hallgrímsson, Benedikt, Pennacchio, Len A., Visel, Axel
Published in Science (American Association for the Advancement of Science) (25.10.2013)
Published in Science (American Association for the Advancement of Science) (25.10.2013)
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Single-cell analyses reveal transient retinal progenitor cells in the ciliary margin of developing human retina
Dorgau, Birthe, Collin, Joseph, Rozanska, Agata, Zerti, Darin, Unsworth, Adrienne, Crosier, Moira, Hussain, Rafiqul, Coxhead, Jonathan, Dhanaseelan, Tamil, Patel, Aara, Sowden, Jane C., FitzPatrick, David R., Queen, Rachel, Lako, Majlinda
Published in Nature communications (26.04.2024)
Published in Nature communications (26.04.2024)
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Journal Article
Pathogenicity and selective constraint on variation near splice sites
Lord, Jenny, Gallone, Giuseppe, Short, Patrick J, McRae, Jeremy F, Ironfield, Holly, Wynn, Elizabeth H, Gerety, Sebastian S, He, Liu, Kerr, Bronwyn, Johnson, Diana S, McCann, Emma, Kinning, Esther, Flinter, Frances, Temple, I Karen, Clayton-Smith, Jill, McEntagart, Meriel, Lynch, Sally Ann, Joss, Shelagh, Douzgou, Sofia, Dabir, Tabib, Clowes, Virginia, McConnell, Vivienne P M, Lam, Wayne, Wright, Caroline F, FitzPatrick, David R, Firth, Helen V, Barrett, Jeffrey C, Hurles, Matthew E
Published in Genome research (01.02.2019)
Published in Genome research (01.02.2019)
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Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families
Akawi, Nadia, McRae, Jeremy, Ansari, Morad, Balasubramanian, Meena, Blyth, Moira, Brady, Angela F, Clayton, Stephen, Cole, Trevor, Deshpande, Charu, Fitzgerald, Tomas W, Foulds, Nicola, Francis, Richard, Gabriel, George, Gerety, Sebastian S, Goodship, Judith, Hobson, Emma, Jones, Wendy D, Joss, Shelagh, King, Daniel, Klena, Nikolai, Kumar, Ajith, Lees, Melissa, Lelliott, Chris, Lord, Jenny, McMullan, Dominic, O'Regan, Mary, Osio, Deborah, Piombo, Virginia, Prigmore, Elena, Rajan, Diana, Rosser, Elisabeth, Sifrim, Alejandro, Smith, Audrey, Swaminathan, Ganesh J, Turnpenny, Peter, Whitworth, James, Wright, Caroline F, Firth, Helen V, Barrett, Jeffrey C, Lo, Cecilia W, FitzPatrick, David R, Hurles, Matthew E
Published in Nature genetics (01.11.2015)
Published in Nature genetics (01.11.2015)
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Deep mutational scanning quantifies DNA binding and predicts clinical outcomes of PAX6 variants
McDonnell, Alexander F, Plech, Marcin, Livesey, Benjamin J, Gerasimavicius, Lukas, Owen, Liusaidh J, Hall, Hildegard Nikki, FitzPatrick, David R, Marsh, Joseph A, Kudla, Grzegorz
Published in Molecular systems biology (07.06.2024)
Published in Molecular systems biology (07.06.2024)
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Journal Article
Heterozygous Loss-of-Function Mutations in YAP1 Cause Both Isolated and Syndromic Optic Fissure Closure Defects
Williamson, Kathleen A., Rainger, Joe, Floyd, James A.B., Ansari, Morad, Meynert, Alison, Aldridge, Kishan V., Rainger, Jacqueline K., Anderson, Carl A., Moore, Anthony T., Hurles, Matthew E., Clarke, Angus, van Heyningen, Veronica, Verloes, Alain, Taylor, Martin S., Wilkie, Andrew O.M., FitzPatrick, David R.
Published in American journal of human genetics (06.02.2014)
Published in American journal of human genetics (06.02.2014)
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Journal Article
Cornelia de Lange syndrome-associated mutations cause a DNA damage signalling and repair defect
Olley, Gabrielle, Pradeepa, Madapura M., Grimes, Graeme R., Piquet, Sandra, Polo, Sophie E., FitzPatrick, David R., Bickmore, Wendy A., Boumendil, Charlene
Published in Nature communications (25.05.2021)
Published in Nature communications (25.05.2021)
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Journal Article
Contribution of retrotransposition to developmental disorders
Gardner, Eugene J., Prigmore, Elena, Gallone, Giuseppe, Danecek, Petr, Samocha, Kaitlin E., Handsaker, Juliet, Gerety, Sebastian S., Ironfield, Holly, Short, Patrick J., Sifrim, Alejandro, Singh, Tarjinder, Chandler, Kate E., Clement, Emma, Lachlan, Katherine L., Prescott, Katrina, Rosser, Elisabeth, FitzPatrick, David R., Firth, Helen V., Hurles, Matthew E.
Published in Nature communications (11.10.2019)
Published in Nature communications (11.10.2019)
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Journal Article
A Restricted Repertoire of De Novo Mutations in ITPR1 Cause Gillespie Syndrome with Evidence for Dominant-Negative Effect
McEntagart, Meriel, Williamson, Kathleen A., Rainger, Jacqueline K., Wheeler, Ann, Seawright, Anne, De Baere, Elfride, Verdin, Hannah, Bergendahl, L. Therese, Quigley, Alan, Rainger, Joe, Dixit, Abhijit, Sarkar, Ajoy, López Laso, Eduardo, Sanchez-Carpintero, Rocio, Barrio, Jesus, Bitoun, Pierre, Prescott, Trine, Riise, Ruth, McKee, Shane, Cook, Jackie, McKie, Lisa, Ceulemans, Berten, Meire, Françoise, Temple, I. Karen, Prieur, Fabienne, Williams, Jonathan, Clouston, Penny, Németh, Andrea H., Banka, Siddharth, Bengani, Hemant, Handley, Mark, Freyer, Elisabeth, Ross, Allyson, van Heyningen, Veronica, Marsh, Joseph A., Elmslie, Frances, FitzPatrick, David R.
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
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Journal Article
Diagnostically relevant facial gestalt information from ordinary photos
Ferry, Quentin, Steinberg, Julia, Webber, Caleb, FitzPatrick, David R, Ponting, Chris P, Zisserman, Andrew, Nellåker, Christoffer
Published in eLife (24.06.2014)
Published in eLife (24.06.2014)
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Journal Article
Disruption of an AP-2α binding site in an IRF6 enhancer is associated with cleft lip
Rahimov, Fedik, Marazita, Mary L, Visel, Axel, Cooper, Margaret E, Hitchler, Michael J, Rubini, Michele, Domann, Frederick E, Govil, Manika, Christensen, Kaare, Bille, Camille, Melbye, Mads, Jugessur, Astanand, Lie, Rolv T, Wilcox, Allen J, Fitzpatrick, David R, Green, Eric D, Mossey, Peter A, Little, Julian, Steegers-Theunissen, Regine P, Pennacchio, Len A, Schutte, Brian C, Murray, Jeffrey C
Published in Nature genetics (01.11.2008)
Published in Nature genetics (01.11.2008)
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