Theo dõi
David R FitzPatrick
David R FitzPatrick
Professor & Consultant in Paediatric Genetics, MRC Human Genetics Unit, University of Edinburgh
Email được xác minh tại nhs.net
Tiêu đề
Trích dẫn bởi
Trích dẫn bởi
Năm
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
14411997
Prevalence and architecture of de novo mutations in developmental disorders
Nature 542 (7642), 433-438, 2017
10262017
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
9572013
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
9492014
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
8932015
Large-scale discovery of novel genetic causes of developmental disorders
Nature 519 (7542), 223-228, 2015
8162015
Neurosciences
D Purves, GJ Augustine, D Fitzpatrick, W Hall, AS LaMantia, L White
De Boeck Supérieur, 2019
805*2019
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
7212004
Paediatric genomics: diagnosing rare disease in children
CF Wright, DR FitzPatrick, HV Firth
Nature Reviews Genetics 19 (5), 253-268, 2018
6992018
Mutations in SOX2 cause anophthalmia
J Fantes, NK Ragge, SA Lynch, NI McGill, JRO Collin, ...
Nature genetics 33 (4), 462-463, 2003
6402003
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
5652003
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
5412016
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
5172008
Evidence for 28 genetic disorders discovered by combining healthcare and research data
J Kaplanis, KE Samocha, L Wiel, Z Zhang, KJ Arvai, RY Eberhardt, ...
Nature 586 (7831), 757-762, 2020
5122020
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
4982009
Anophthalmia and microphthalmia
AS Verma, DR FitzPatrick
Orphanet journal of rare diseases 2, 1-8, 2007
4882007
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
4502017
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
4502016
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
4452015
Neurociencia
D Purves, GJ Augustine, D Fitzpatrick, WC Hall, AS Lamantia
Editorial médica panamericana, 2007
4392007
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