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Christopher A Odhams
Christopher A Odhams
Genomics England
Verified email at genomicsengland.co.uk
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Cited by
Cited by
Year
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
892022
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
892020
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
892019
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
882019
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
662021
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
592017
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
442018
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
282022
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
272017
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
222021
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
222020
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
202022
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
152022
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
142021
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
102023
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
102023
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
92020
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
82021
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
72023
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