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Roel Bevers
Roel Bevers
EPFL, Lausanne, Switzerland
在 epfl.ch 的电子邮件经过验证
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引用次数
引用次数
年份
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
702017
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
672017
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
442014
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
372022
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
262021
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
212022
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
182022
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
172021
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
172019
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
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
132023
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
122023
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
92023
The genomic landscape of familial glioma
DJ Choi, G Armstrong, B Lozzi, P Vijayaraghavan, SE Plon, TC Wong, ...
Science Advances 9 (17), eade2675, 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
82023
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
82023
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
32023
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