Roel Bevers
École Polytechnique Fédérale de Lausanne
H-index: 13
Europe-Switzerland
Top articles of Roel Bevers
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
A gene pathogenicity tool “GenePy” identifies missed biallelic diagnoses in the 100,000 Genomes Project | Genetics in Medicine | Eleanor G Seaby Gary Leggatt Guo Cheng N Simon Thomas James J Ashton | 2024/4/1 |
Copy number analysis from genome sequencing data of 11,754 rare disease parent-child trios: a model for identifying autosomal recessive human gene knockouts including a novel … | Genetics in Medicine Open | Eric Olinger Ian J Wilson Sarah Orr Miguel Barroso-Gil Ruxandra Neatu | 2024/2/29 |
Late-onset autosomal dominant macular degeneration caused by deletion of the CRX gene | Ophthalmology | Samar Yahya Claire EL Smith James A Poulter Martin McKibbin Gavin Arno | 2023/1/1 |
Prevalence and significance of DDX41 gene variants in the general population | Blood | Sruthi Cheloor Kovilakam Muxin Gu William G Dunn Ludovica Marando Clea Barcena | 2023/10/5 |
DGRPool: A web tool leveraging harmonized Drosophila Genetic Reference Panel phenotyping data for the study of complex traits | bioRxiv | Vincent Gardeux Roel PJ Bevers Fabrice PA David Emily Rosschaert Romain Rochepeau | 2023 |
HNRNPC haploinsufficiency affects alternative splicing of intellectual disability-associated genes and causes a neurodevelopmental disorder | The American Journal of Human Genetics | Eva Niggl Arjan Bouman Lauren C Briere Remco M Hoogenboezem Ilse Wallaard | 2023/8/3 |
Stretch-activated ion channel TMEM63B associates with developmental and epileptic encephalopathies and progressive neurodegeneration | The American Journal of Human Genetics | Annalisa Vetro Cristiana Pelorosso Simona Balestrini Alessio Masi Sophie Hambleton | 2023/8/3 |
Sex, Genotype, and Liver Volume Progression as Risk of Hospitalization Determinants in Autosomal Dominant Polycystic Liver Disease | Gastroenterology | Ria Schönauer Dana Sierks Melissa Boerrigter Tabinda Jawaid Lea Caroff | 2023/12/13 |
The genomic landscape of familial glioma | Science Advances | Dong-Joo Choi Georgina Armstrong Brittney Lozzi Prashanth Vijayaraghavan Sharon E Plon | 2023/4/28 |
Certain heterozygous variants in the kinase domain of the serine/threonine kinase NEK8 can cause an autosomal dominant form of polycystic kidney disease | Kidney International | Laura R Claus Chuan Chen Jennifer Stallworth Joshua L Turner Gisela G Slaats | 2023/11/1 |
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 | Human Genetics and Genomics Advances | Adam Jackson Sheng-Jia Lin Elizabeth A Jones Kate E Chandler David Orr | 2023/4/13 |
Rare variants in the sodium-dependent phosphate transporter gene SLC34A3 explain missing heritability of urinary stone disease | Kidney International | Omid Sadeghi-Alavijeh Melanie MY Chan Shabbir H Moochhala John C Ambrose Prabhu Arumugam | 2023/11/1 |
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile | Genetics in medicine | Reem Al-Jawahiri Aidin Foroutan Jennifer Kerkhof Haley McConkey Michael Levy | 2022/6/1 |
Uncovering the burden of hidden ciliopathies in the 100 000 Genomes Project: a reverse phenotyping approach | Journal of Medical Genetics | Sunayna Best Jing Yu Jenny Lord Matthew Roche Christopher Mark Watson | 2022/12/1 |
Genome sequencing reveals underdiagnosis of primary ciliary dyskinesia in bronchiectasis | European Respiratory Journal | Amelia Shoemark Helen Griffin Gabrielle Wheway Claire Hogg Jane S Lucas | 2022/11/1 |
Molecular diagnoses in the congenital malformations caused by ciliopathies cohort of the 100,000 Genomes Project | Journal of Medical Genetics | Sunayna Best Jenny Lord Matthew Roche Christopher M Watson James A Poulter | 2022/8/1 |
Evaluating the performance of a clinical genome sequencing program for diagnosis of rare genetic disease, seen through the lens of craniosynostosis | Genetics in Medicine | Zerin Hyder Eduardo Calpena Yang Pei Rebecca S Tooze Helen Brittain | 2021/12/1 |
Extensive tissue-specific expression variation and novel regulators underlying circadian behavior | Science advances | Maria Litovchenko Antonio CA Meireles-Filho Michael V Frochaux Roel PJ Bevers Alessio Prunotto | 2021/1/29 |
Dissecting the eQTL Micro-Architecture in Caenorhabditis elegans | Frontiers in Genetics | Mark G Sterken Roel PJ Bevers Rita JM Volkers Joost AG Riksen Jan E Kammenga | 2020/11/3 |
Author Correction: Mitochondrial haplotypes affect metabolic phenotypes in the Drosophila Genetic Reference Panel | Nature metabolism | Roel PJ Bevers Maria Litovchenko Adamandia Kapopoulou Virginie S Braman Matthew R Robinson | 2020/4 |
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