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Nuclear-mitochondrial DNA segments resemble paternally inherited mitochondrial DNA in humans W Wei, AT Pagnamenta, N Gleadall, A Sanchis-Juan, J Stephens, ... Nature communications 11 (1), 1740, 2020 | 89 | 2020 |
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Interferon inducible X-linked gene CXorf21 may contribute to sexual dimorphism in Systemic Lupus Erythematosus CA Odhams, AL Roberts, SK Vester, CST Duarte, CT Beales, AJ Clarke, ... Nature communications 10 (1), 2164, 2019 | 88 | 2019 |
Pathogenic huntingtin repeat expansions in patients with frontotemporal dementia and amyotrophic lateral sclerosis R Dewan, R Chia, J Ding, RA Hickman, TD Stein, Y Abramzon, S Ahmed, ... Neuron 109 (3), 448-460. e4, 2021 | 66 | 2021 |
Mapping eQTLs with RNA-seq reveals novel susceptibility genes, non-coding RNAs and alternative-splicing events in systemic lupus erythematosus CA Odhams, A Cortini, L Chen, AL Roberts, A Vinuela, A Buil, KS Small, ... Human molecular genetics 26 (5), 1003-1017, 2017 | 59 | 2017 |
De novo mutations implicate novel genes in systemic lupus erythematosus V Pullabhatla, AL Roberts, MJ Lewis, D Mauro, DL Morris, CA Odhams, ... Human molecular genetics 27 (3), 421-429, 2018 | 44 | 2018 |
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis A Shoemark, H Griffin, G Wheway, C Hogg, JS Lucas, C Camps, J Taylor, ... European Respiratory Journal 60 (5), 2022 | 28 | 2022 |
Profiling RNA-Seq at multiple resolutions markedly increases the number of causal eQTLs in autoimmune disease CA Odhams, DS Cunninghame Graham, TJ Vyse PLoS Genetics 13 (10), e1007071, 2017 | 27 | 2017 |
An ancestral 10-bp repeat expansion in VWA1 causes recessive hereditary motor neuropathy AT Pagnamenta, R Kaiyrzhanov, Y Zou, SI Da'as, R Maroofian, ... Brain 144 (2), 584-600, 2021 | 22 | 2021 |
De novo SOX6 variants cause a neurodevelopmental syndrome associated with ADHD, craniosynostosis, and osteochondromas D Tolchin, JP Yeager, P Prasad, N Dorrani, AS Russi, JA Martinez-Agosto, ... The American Journal of Human Genetics 106 (6), 830-845, 2020 | 22 | 2020 |
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 |
Cardiac Investigations in Sudden Unexpected Death in DEPDC5‐Related Epilepsy A Bacq, D Roussel, T Bonduelle, S Zagaglia, M Maletic, T Ribierre, ... Annals of Neurology 91 (1), 101-116, 2022 | 15 | 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 | 14 | 2021 |
Widespread genomic influences on phenotype in Dravet syndrome, a ˇmonogenic˘condition H Martins Custodio, LM Clayton, R Bellampalli, S Pagni, K Silvennoinen, ... Brain 146 (9), 3885-3897, 2023 | 10 | 2023 |
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 | 10 | 2023 |
Genetic and chemotherapeutic causes of germline hypermutation J Kaplanis, B Ide, R Sanghvi, M Neville, P Danecek, T Coorens, ... bioRxiv, 2021.06. 01.446180, 2021 | 9* | 2021 |
Genomic loci susceptible to systematic sequencing bias in clinical whole genomes TM Freeman, D Wang, J Harris, JC Ambrose, P Arumugam, EL Baple, ... Genome research 30 (3), 415-426, 2020 | 9 | 2020 |
Late diagnoses of Dravet syndrome: How many individuals are we missing? K Silvennoinen, C Puvirajasinghe, K Hudgell, MK Sidhu, ... Epilepsia Open 6 (4), 770-776, 2021 | 8 | 2021 |
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 |