| Neurosciences D Purves, GJ Augustine, D Fitzpatrick, W Hall, AS LaMantia, L White De Boeck Supérieur, 2019 | 4088 | 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 | 1395 | 1997 |
| Prevalence and architecture of de novo mutations in developmental disorders Nature 542 (7642), 433-438, 2017 | 928 | 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 | 913 | 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 | 894 | 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 | 826 | 2015 |
| Large-scale discovery of novel genetic causes of developmental disorders Nature 519 (7542), 223-228, 2015 | 765 | 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 | 705 | 2004 |
| Mutations in SOX2 cause anophthalmia J Fantes, NK Ragge, SA Lynch, NI McGill, JRO Collin, ... Nature genetics 33 (4), 462-463, 2003 | 634 | 2003 |
| Paediatric genomics: diagnosing rare disease in children CF Wright, DR FitzPatrick, HV Firth Nature Reviews Genetics 19 (5), 253-268, 2018 | 610 | 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 | 550 | 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 | 492 | 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 | 476 | 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 | 476 | 2009 |
| Anophthalmia and microphthalmia AS Verma, DR FitzPatrick Orphanet journal of rare diseases 2, 1-8, 2007 | 455 | 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 | 423 | 2008 |
| Neurociencia D Purves, GJ Augustine, D Fitzpatrick, WC Hall, AS Lamantia Editorial médica panamericana, 2007 | 419 | 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 | 411 | 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 | 410 | 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 | 410 | 2015 |
