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 | 132 | 2015 |
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 | 103 | 2012 |
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 | 70 | 2017 |
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 | 67 | 2017 |
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 | 63 | 2017 |
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 | 44 | 2014 |
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 | 37 | 2022 |
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 | 26 | 2021 |
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 | 21 | 2022 |
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 | 18 | 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 | 17 | 2021 |
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 | 17 | 2019 |
Dissecting the eQTL Micro-Architecture in Caenorhabditis elegans MG Sterken, RPJ Bevers, RJM Volkers, JAG Riksen, JE Kammenga, ... Frontiers in Genetics 11, 501376, 2020 | 14 | 2020 |
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 | 13 | 2023 |
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 | 12 | 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 | 9 | 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 | 9 | 2023 |
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 | 8 | 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 | 8 | 2023 |
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 | 3 | 2023 |