David R FitzPatrick
David R FitzPatrick
Professor & Consultant in Paediatric Genetics, MRC Human Genetics Unit, University of Edinburgh
Verified email at
Cited by
Cited by
D Purves, GJ Augustine, D Fitzpatrick, W Hall, AS LaMantia, L White
De Boeck Supérieur, 2019
Orientation selectivity and the arrangement of horizontal connections in tree shrew striate cortex
WH Bosking, Y Zhang, B Schofield, D Fitzpatrick
Journal of neuroscience 17 (6), 2112-2127, 1997
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
The Human Phenotype Ontology project: linking molecular biology and disease through phenotype data
S Köhler, SC Doelken, CJ Mungall, S Bauer, HV Firth, I Bailleul-Forestier, ...
Nucleic acids research 42 (D1), D966-D974, 2014
New insights into the classification and nomenclature of cortical GABAergic interneurons
J DeFelipe, PL López-Cruz, R Benavides-Piccione, C Bielza, P Larrañaga, ...
Nature Reviews Neuroscience 14 (3), 202-216, 2013
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data
CF Wright, TW Fitzgerald, WD Jones, S Clayton, JF McRae, ...
The Lancet 385 (9975), 1305-1314, 2015
Large-scale discovery of novel genetic causes of developmental disorders
Nature 519 (7542), 223-228, 2015
Constitutional aneuploidy and cancer predisposition caused by biallelic mutations in BUB1B
S Hanks, K Coleman, S Reid, A Plaja, H Firth, D FitzPatrick, A Kidd, ...
Nature genetics 36 (11), 1159-1161, 2004
Mutations in SOX2 cause anophthalmia
J Fantes, NK Ragge, SA Lynch, NI McGill, JRO Collin, ...
Nature genetics 33 (4), 462-463, 2003
Paediatric genomics: diagnosing rare disease in children
CF Wright, DR FitzPatrick, HV Firth
Nature Reviews Genetics 19 (5), 253-268, 2018
Mutations in the small GTP-ase late endosomal protein RAB7 cause Charcot-Marie-Tooth type 2B neuropathy
K Verhoeven, P De Jonghe, K Coen, N Verpoorten, M Auer-Grumbach, ...
The American Journal of Human Genetics 72 (3), 722-727, 2003
Disruption of an AP-2α binding site in an IRF6 enhancer is associated with cleft lip
F Rahimov, ML Marazita, A Visel, ME Cooper, MJ Hitchler, M Rubini, ...
Nature genetics 40 (11), 1341-1347, 2008
A viral strategy for targeting and manipulating interneurons across vertebrate species
J Dimidschstein, Q Chen, R Tremblay, SL Rogers, GA Saldi, L Guo, Q Xu, ...
Nature neuroscience 19 (12), 1743-1749, 2016
Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
S Benko, JA Fantes, J Amiel, DJ Kleinjan, S Thomas, J Ramsay, ...
Nature genetics 41 (3), 359-364, 2009
Anophthalmia and microphthalmia
AS Verma, DR FitzPatrick
Orphanet journal of rare diseases 2, 1-8, 2007
Human-specific gain of function in a developmental enhancer
S Prabhakar, A Visel, JA Akiyama, M Shoukry, KD Lewis, A Holt, ...
Science 321 (5894), 1346-1350, 2008
D Purves, GJ Augustine, D Fitzpatrick, WC Hall, AS Lamantia
Editorial médica panamericana, 2007
High rate of recurrent de novo mutations in developmental and epileptic encephalopathies
FF Hamdan, CT Myers, P Cossette, P Lemay, D Spiegelman, AD Laporte, ...
The American Journal of Human Genetics 101 (5), 664-685, 2017
Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing
A Sifrim, MP Hitz, A Wilsdon, J Breckpot, SHA Turki, B Thienpont, ...
Nature genetics 48 (9), 1060-1065, 2016
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel
J Huang, B Howie, S McCarthy, Y Memari, K Walter, JL Min, P Danecek, ...
Nature communications 6 (1), 8111, 2015
The system can't perform the operation now. Try again later.
Articles 1–20