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| Quantitative measurements of alternating finger tapping in Parkinson's disease correlate with UPDRS motor disability and reveal the improvement in fine motor control from … AL Taylor Tavares, GSXE Jefferis, M Koop, BC Hill, T Hastie, G Heit, ... Movement disorders: official journal of the Movement Disorder Society 20 (10 …, 2005 | 248 | 2005 |
| Whole genome sequencing reveals that genetic conditions are frequent in intensively ill children CE French, I Delon, H Dolling, A Sanchis-Juan, O Shamardina, K Mégy, ... Intensive care medicine 45, 627-636, 2019 | 203 | 2019 |
| Integrative analysis reveals a molecular stratification of systemic autoimmune diseases G Barturen, S Babaei, F Català‐Moll, M Martínez‐Bueno, Z Makowska, ... Arthritis & rheumatology 73 (6), 1073-1085, 2021 | 112 | 2021 |
| Whole genome sequencing for the diagnosis of neurological repeat expansion disorders in the UK: a retrospective diagnostic accuracy and prospective clinical validation study K Ibañez, J Polke, RT Hagelstrom, E Dolzhenko, D Pasko, ERA Thomas, ... The Lancet Neurology 21 (3), 234-245, 2022 | 93 | 2022 |
| MLL2 mosaic mutations and intragenic deletion–duplications in patients with Kabuki syndrome S Banka, E Howard, S Bunstone, KE Chandler, B Kerr, K Lachlan, ... Clinical genetics 83 (5), 467-471, 2013 | 60 | 2013 |
| Scaling national and international improvement in virtual gene panel curation via a collaborative approach to discordance resolution Z Stark, RE Foulger, E Williams, BA Thompson, C Patel, S Lunke, C Snow, ... The American Journal of Human Genetics 108 (9), 1551-1557, 2021 | 48 | 2021 |
| STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability D Lehalle, AL Mosca-Boidron, A Begtrup, O Boute-Benejean, P Charles, ... Journal of medical genetics 54 (7), 479-488, 2017 | 42 | 2017 |
| The contribution of X-linked coding variation to severe developmental disorders HC Martin, EJ Gardner, KE Samocha, J Kaplanis, N Akawi, A Sifrim, ... Nature communications 12 (1), 627, 2021 | 39 | 2021 |
| Development of the Memphite floodplain: landscape and settlement symbiosis in the Egyptian capital zone J Bunbury, A Tavares, B Pennington, P Gonçalves Transcript Verlag, 2017 | 25 | 2017 |
| A systematic analysis of splicing variants identifies new diagnoses in the 100,000 Genomes Project AJM Blakes, HA Wai, I Davies, HE Moledina, A Ruiz, T Thomas, D Bunyan, ... Genome Medicine 14 (1), 79, 2022 | 20 | 2022 |
| SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile R Al-Jawahiri, A Foroutan, J Kerkhof, H McConkey, M Levy, ... Genetics in medicine 24 (6), 1261-1273, 2022 | 20 | 2022 |
| Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis Z Hyder, E Calpena, Y Pei, RS Tooze, H Brittain, SRF Twigg, D Cilliers, ... Genetics in Medicine 23 (12), 2360-2368, 2021 | 15 | 2021 |
| A gene-to-patient approach uplifts novel disease gene discovery and identifies 18 putative novel disease genes EG Seaby, D Smedley, ALT Tavares, H Brittain, RH van Jaarsveld, ... Genetics in Medicine 24 (8), 1697-1707, 2022 | 13 | 2022 |
| Widespread genomic influences on phenotype in Dravet syndrome, a ‘monogenic’condition H Martins Custodio, LM Clayton, R Bellampalli, S Pagni, K Silvennoinen, ... Brain 146 (9), 3885-3897, 2023 | 12 | 2023 |
| Biallelic TMEM260 variants cause truncus arteriosus, with or without renal defects AT Pagnamenta, A Jackson, R Perveen, G Beaman, G Petts, A Gupta, ... Clinical Genetics 101 (1), 127-133, 2022 | 12 | 2022 |
| Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration A Vetro, C Pelorosso, S Balestrini, A Masi, S Hambleton, E Argilli, V Conti, ... The American Journal of Human Genetics 110 (8), 1356-1376, 2023 | 11 | 2023 |
| Expression quantitative trait locus analysis in systemic sclerosis identifies new candidate genes associated with multiple aspects of disease pathology M Kerick, D González‐Serna, E Carnero‐Montoro, M Teruel, ... Arthritis & Rheumatology 73 (7), 1288-1300, 2021 | 11 | 2021 |
| Whole genome sequencing for diagnosis of neurological repeat expansion disorders K Ibanez, J Polke, T Hagelstrom, E Dolzhenko, D Pasko, E Thomas, ... bioRxiv, 2020.11. 06.371716, 2020 | 8 | 2020 |
| Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease O Sadeghi-Alavijeh, MMY Chan, SH Moochhala, JC Ambrose, ... Kidney International 104 (5), 975-984, 2023 | 7 | 2023 |
