David R FitzPatrick
David R FitzPatrick
Professor & Consultant in Paediatric Genetics, MRC Human Genetics Unit, University of Edinburgh
Geverifieerd e-mailadres voor nhs.net
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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
12131997
Cognitive neuroscience
D Purves, R Cabeza, SA Huettel, KS LaBar, ML Platt, MG Woldorff, ...
Sunderland: Sinauer Associates, Inc, 2008
778*2008
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
7072014
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
5882013
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
5812004
Spectral-temporal receptive fields of nonlinear auditory neurons obtained using natural sounds
FE Theunissen, K Sen, AJ Doupe
Journal of Neuroscience 20 (6), 2315-2331, 2000
5732000
Mutations in SOX2 cause anophthalmia
J Fantes, NK Ragge, SA Lynch, NI McGill, JRO Collin, ...
Nature genetics 33 (4), 462-463, 2003
5342003
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
4632003
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
4532015
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
4292008
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
3482009
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
3432008
Physiological organization of layer 4 in macaque striate cortex
GG Blasdel, D Fitzpatrick
Journal of Neuroscience 4 (3), 880-895, 1984
3381984
Large-scale discovery of novel genetic causes of developmental disorders
TDDD Study, TW Fitzgerald, SS Gerety, WD Jones, M van Kogelenberg, ...
Nature 519 (7542), 223-228, 2015
3242015
Prevalence and architecture of de novo mutations in developmental disorders
DDD Study, JF McRae, S Clayton, TW Fitzgerald, J Kaplanis, E Prigmore, ...
Nature 542 (7642), 433-438, 2017
3222017
Anophthalmia and microphthalmia
AS Verma, DR FitzPatrick
Orphanet journal of rare diseases 2 (1), 47, 2007
3132007
Intrinsic connections of macaque striate cortex: afferent and efferent connections of lamina 4C
D Fitzpatrick, JS Lund, GG Blasdel
Journal of Neuroscience 5 (12), 3329-3349, 1985
3131985
Mutations in the 3β-hydroxysterol Δ24-reductase gene cause desmosterolosis, an autosomal recessive disorder of cholesterol biosynthesis
HR Waterham, J Koster, GJ Romeijn, RCM Hennekam, P Vreken, ...
The American Journal of Human Genetics 69 (4), 685-694, 2001
3092001
Mutations in STRA6 cause a broad spectrum of malformations including anophthalmia, congenital heart defects, diaphragmatic hernia, alveolar capillary dysplasia, lung hypoplasia …
F Pasutto, H Sticht, G Hammersen, G Gillessen-Kaesbach, DR FitzPatrick, ...
The American Journal of Human Genetics 80 (3), 550-560, 2007
3062007
Differential expression of TGF beta isoforms in murine palatogenesis
DR Fitzpatrick, F Denhez, P Kondaiah, RJ Akhurst
Development 109 (3), 585-595, 1990
3021990
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Artikelen 1–20