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Roel Bevers
Roel Bevers
EPFL, Lausanne, Switzerland
Correu electrònic verificat a epfl.ch
Títol
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Remarkably Divergent Regions Punctuate the Genome Assembly of the Caenorhabditis elegans Hawaiian Strain CB4856
OA Thompson, LB Snoek, H Nijveen, MG Sterken, RJM Volkers, ...
Genetics 200 (3), 975-989, 2015
1322015
Genetic variation for stress-response hormesis in C. elegans lifespan
M Rodriguez, LB Snoek, JAG Riksen, RP Bevers, JE Kammenga
Experimental gerontology 47 (8), 581-587, 2012
1032012
Bayesian association scan reveals loci associated with human lifespan and linked biomarkers
AF McDaid, PK Joshi, E Porcu, A Komljenovic, H Li, V Sorrentino, ...
Nature communications 8 (1), 15842, 2017
692017
Temporal dynamics of gene expression in heat-stressed Caenorhabditis elegans
K Jovic, MG Sterken, J Grilli, RPJ Bevers, M Rodriguez, JAG Riksen, ...
PloS one 12 (12), e0189445, 2017
652017
Contribution of trans regulatory eQTL to cryptic genetic variation in C. elegans
BL Snoek, MG Sterken, RPJ Bevers, RJM Volkers, A van’t Hof, ...
BMC genomics 18, 1-15, 2017
632017
A rapid and massive gene expression shift marking adolescent transition in C. elegans
LB Snoek, MG Sterken, RJM Volkers, M Klatter, KJ Bosman, RPJ Bevers, ...
Scientific reports 4 (1), 3912, 2014
452014
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
292022
Extensive tissue-specific expression variation and novel regulators underlying circadian behavior
M Litovchenko, ACA Meireles-Filho, MV Frochaux, RPJ Bevers, ...
Science advances 7 (5), eabc3781, 2021
232021
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
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project
S Best, J Lord, M Roche, CM Watson, JA Poulter, RPJ Bevers, A Stuckey, ...
Journal of Medical Genetics 59 (8), 737-747, 2022
162022
Mitochondrial haplotypes affect metabolic phenotypes in the Drosophila Genetic Reference Panel
RPJ Bevers, M Litovchenko, A Kapopoulou, VS Braman, MR Robinson, ...
Nature Metabolism 1 (12), 1226-1242, 2019
162019
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
Dissecting the eQTL Micro-Architecture in Caenorhabditis elegans
MG Sterken, RPJ Bevers, RJM Volkers, JAG Riksen, JE Kammenga, ...
Frontiers in Genetics 11, 501376, 2020
142020
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
Prevalence and significance of DDX41 gene variants in the general population
S Cheloor Kovilakam, M Gu, WG Dunn, L Marando, C Barcena, ...
Blood 142 (14), 1185-1192, 2023
92023
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
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
72023
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
52023
The genomic landscape of familial glioma
DJ Choi, G Armstrong, B Lozzi, P Vijayaraghavan, SE Plon, TC Wong, ...
Science Advances 9 (17), eade2675, 2023
52023
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
22023
En aquests moments el sistema no pot dur a terme l'operació. Torneu-ho a provar més tard.
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