Phenotype and genotype in 52 patients with Rubinstein–Taybi syndrome caused by EP300 mutations P Fergelot, M Van Belzen, J Van Gils, A Afenjar, CM Armour, B Arveiler, ... American Journal of Medical Genetics Part A 170 (12), 3069-3082, 2016 | 148 | 2016 |
Methodology of legal research: Challenges and opportunities PM Langbroek, K Van Den Bos, M Simon Thomas, JM Milo, ... Utrecht law review 13 (3), 1-8, 2017 | 145 | 2017 |
Sudden unexplained death in psychiatric in-patients L Appleby, S Thomas, N Ferrier, G Lewis, J Shaw, T Amos The British Journal of Psychiatry 176 (5), 405-406, 2000 | 133 | 2000 |
Risk factors for situs defects and congenital heart disease in primary ciliary dyskinesia S Best, A Shoemark, B Rubbo, MP Patel, MR Fassad, M Dixon, ... Thorax 74 (2), 203-205, 2019 | 74 | 2019 |
OFD1 mutations in males: phenotypic spectrum and ciliary basal body docking impairment. C Thauvin‐Robinet, S Thomas, M Sinico, B Aral, L Burglen, N Gigot, ... Clinical Genetics 84 (1), 2013 | 50 | 2013 |
An association analysis of microsatellite markers across the Prader–Willi/Angelman critical region on chromosome 15 (q11‐13) and autism spectrum disorder S Curran, S Roberts, S Thomas, M Veltman, J Browne, E Medda, ... American Journal of Medical Genetics Part B: Neuropsychiatric Genetics 137 …, 2005 | 49 | 2005 |
BRCA1 Circos: a visualisation resource for functional analysis of missense variants A Jhuraney, A Velkova, RC Johnson, B Kessing, RS Carvalho, P Whiley, ... Journal of medical genetics 52 (4), 224-230, 2015 | 43 | 2015 |
Constraining geohazards to the past: impact assessment of submarine mass movements on seabed developments S Thomas, J Hooper, M Clare Submarine mass movements and their consequences, 387-398, 2010 | 40 | 2010 |
Legal pluralism and interlegality in Ecuador: The La Cocha murder case S Thomas Cuadernos del CEDLA 24, 2009 | 27 | 2009 |
Ethnography as risky business: Field research in violent and sensitive contexts C van der Borgh, I Denissen, T Diphoorn, ML Glebbeek, ED Rasch, ... Rowman & Littlefield, 2019 | 26 | 2019 |
Gain-of-function variants in the ion channel gene TRPM3 underlie a spectrum of neurodevelopmental disorders L Burglen, E Van Hoeymissen, L Qebibo, M Barth, N Belnap, F Boschann, ... Elife 12, e81032, 2023 | 23 | 2023 |
The Challenge of Legal Pluralism: Local dispute settlement and the Indian-state relationship in Ecuador MS Thomas Routledge, 2016 | 22 | 2016 |
A patient with a supernumerary marker chromosome (15), Angelman syndrome, and uniparental disomy resulting from paternal meiosis II non-disjunction S Roberts, F Maggouta, R Thompson, S Price, S Thomas Journal of Medical Genetics 39 (2), e9-e9, 2002 | 21 | 2002 |
Deepwater Angola part I: Geohazard mitigation AJ Hill, JG Southgate, PR Fish, S Thomas, S Gourvenec, D White Frontiers in Offshore Geotechnics II, 209-214, 2011 | 18 | 2011 |
COM2 SiGe modular BiCMOS technology for digital, mixed-signal, and RF applications M Carroll, T Ivanov, S Kuehne, J Chu, C King, M Frei, M Mastrapasqua, ... International Electron Devices Meeting 2000. Technical Digest. IEDM (Cat. No …, 2000 | 18 | 2000 |
Evidence for linkage for atopy and asthma to markers on chromosome 12q J Wilkinson, S Thomas, P Lio, ST Holgate, NE Morton Eur Respir J 9 (Suppl 23), 435s, 1996 | 18 | 1996 |
Analyses of 1,236 genotyped primary ciliary dyskinesia individuals identify regional clusters of distinct DNA variants and significant genotype-phenotype correlations J Raidt, S Riepenhausen, P Pennekamp, H Olbrich, I Amirav, ... European Respiratory Journal, 2024 | 14 | 2024 |
The Challenge of Legal Pluralism: Local dispute settlement and the Indian-state relationship in Ecuador M Simon Thomas | 14* | 2017 |
Snel, Betekenisvol en Zorgvuldig. Een tussenevaluatie van de ZSM-werkwijze M Simon Thomas, P Van Kampen, L Van Lent, ... | 13* | 2016 |
The effects of formal legal pluralism on indigenous authorities in the Ecuadorian highlands M Simon Thomas The Journal of Latin American and Caribbean Anthropology 22 (1), 46-61, 2017 | 11 | 2017 |