Revealing the quantum regime in tunnelling plasmonics KJ Savage, MM Hawkeye, R Esteban, AG Borisov, J Aizpurua, ... Nature 491 (7425), 574-577, 2012 | 1133 | 2012 |
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 | 137 | 2022 |
Opportunities and challenges for molecular understanding of ciliopathies–the 100,000 genomes project G Wheway, Genomics England Research Consortium, HM Mitchison Frontiers in genetics 10, 127, 2019 | 94 | 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 | 81 | 2021 |
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 | 72 | 2021 |
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 | 44 | 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 | 31 | 2023 |
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 | 31 | 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 | 25 | 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 | 25 | 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 | 22 | 2021 |
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 | 20 | 2023 |
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease LR Claus, C Chen, J Stallworth, JL Turner, GG Slaats, AL Hawks, ... Kidney International 104 (5), 995-1007, 2023 | 17 | 2023 |
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia H Morsy, M Benkirane, E Cali, C Rocca, K Zhelcheska, V Cipriani, ... Genetics in Medicine 25 (1), 76-89, 2023 | 15 | 2023 |
The genomic landscape of familial glioma DJ Choi, G Armstrong, B Lozzi, P Vijayaraghavan, SE Plon, TC Wong, ... Science Advances 9 (17), eade2675, 2023 | 14 | 2023 |
Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy J Park, A Tucci, V Cipriani, G Demidov, C Rocca, J Senderek, M Butryn, ... Genetics in Medicine 24 (10), 2079-2090, 2022 | 13 | 2022 |
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 | 12 | 2023 |
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 | 12 | 2021 |
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder E Niggl, A Bouman, LC Briere, RM Hoogenboezem, I Wallaard, J Park, ... The American Journal of Human Genetics 110 (8), 1414-1435, 2023 | 11 | 2023 |
Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene S Yahya, CEL Smith, JA Poulter, M McKibbin, G Arno, J Ellingford, ... Ophthalmology 130 (1), 68-76, 2023 | 11 | 2023 |