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Kevin J Savage
Kevin J Savage
Lead Engineer, Isotropic Systems
Bestätigte E-Mail-Adresse bei isotropicsystems.com
Titel
Zitiert von
Zitiert von
Jahr
Revealing the quantum regime in tunnelling plasmonics
KJ Savage, MM Hawkeye, R Esteban, AG Borisov, J Aizpurua, ...
Nature 491 (7425), 574-577, 2012
11332012
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
1372022
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
942019
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
812021
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
722021
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
442022
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
312023
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
312020
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
252022
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
252022
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
222021
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
202023
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
172023
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
152023
The genomic landscape of familial glioma
DJ Choi, G Armstrong, B Lozzi, P Vijayaraghavan, SE Plon, TC Wong, ...
Science Advances 9 (17), eade2675, 2023
142023
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
132022
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
122023
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
122021
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
112023
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
112023
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