Christian Gilissen
Radboud Universiteit
H-index: 82
Europe-Netherlands
Top articles of Christian Gilissen
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
DeNovoCNN: A deep learning approach to de novo variant calling in next generation sequencing data | Nucleic acids research | Gelana Khazeeva Karolis Sablauskas Bart van der Sanden Wouter Steyaert Michael Kwint | 2022/9/23 |
Genome sequencing as a generic diagnostic strategy for rare disease | Genome Medicine | Gaby Schobers Ronny Derks Amber den Ouden Hilde Swinkels Jeroen van Reeuwijk | 2024/2/14 |
Comprehensive de novo mutation discovery with HiFi long-read sequencing | Genome Medicine | Erdi Kucuk Bart PGH van der Sanden Luke O’Gorman Michael Kwint Ronny Derks | 2023/5/8 |
Early detection of active Human CytomegaloVirus (hCMV) infection in pregnant women using data generated for noninvasive fetal aneuploidy testing | EBioMedicine | Brigitte HW Faas Galuh Astuti Willem JG Melchers Annette Reuss Christian Gilissen | 2024/2/1 |
Variant-specific pathophysiological mechanisms of AFF3 differently influence transcriptome profiles | medRxiv | Sissy Bassani Jacqueline Chrast Giovanna Ambrosini Norine Voisin Frédéric Schütz | 2024 |
Mobile element insertions in rare diseases: a comparative benchmark and reanalysis of 60,000 exome samples | European Journal of Human Genetics | Robin Wijngaard German Demidov Luke O’Gorman Jordi Corominas-Galbany Burcu Yaldiz | 2024/2 |
Lessons learned from rapid exome sequencing for 575 critically ill patients across the broad spectrum of rare disease | Frontiers in Genetics | Abderrahim Marouane Kornelia Neveling A Chantal Deden Simone van den Heuvel Dimitra Zafeiropoulou | 2024/1/8 |
Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein (vol 24, pg 2051, 2022) | Genetics in Medicine | Elke De Boer Charlotte W Ockeloen Rosalie A Kampen Juliet E Hampstead Alexander JM Dingemans | 2022/10/1 |
Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing | The American Journal of Human Genetics | Xiao Chen John Harting Emily Farrow Isabelle Thiffault Dalia Kasperaviciute | 2023/2/2 |
Whole genome sequencing for USH2A-associated disease reveals several pathogenic deep-intronic variants that are amenable to splice correction | Human Genetics and Genomics Advances | Janine Reurink Nicole Weisschuh Alejandro Garanto Adrian Dockery L Ingeborgh van den Born | 2023/4/13 |
Combined single gene testing and genome sequencing as an effective diagnostic approach for anophthalmia and microphthalmia patients | Genes | Rabia Basharat Kim Rodenburg María Rodríguez-Hidalgo Afeefa Jarral Ehsan Ullah | 2023/8/1 |
Copy number variants from 4800 exomes contribute to~ 7% of genetic diagnoses in movement disorders, muscle disorders and neuropathies | European Journal of Human Genetics | Maartje Pennings Rowdy PP Meijer Monique Gerrits Jannie Janssen Rolph Pfundt | 2023/6 |
Correction Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein | Genetics in Medicine | Elke de Boer Charlotte W Ockeloen Rosalie A Kampen Juliet E Hampstead Alexander JM Dingemans | 2023/11 |
De novo mutation hotspots in homologous protein domains identify function-altering mutations in neurodevelopmental disorders | The American Journal of Human Genetics | Laurens Wiel Juliet E Hampstead Hanka Venselaar Lisenka ELM Vissers Han G Brunner | 2023/1/5 |
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing | Genetics in Medicine | Anne-Sophie Denommé-Pichon Leslie Matalonga Elke de Boer Adam Jackson Elisa Benetti | 2023/4/1 |
ANK2 loss-of-function variants are associated with epilepsy, and lead to impaired axon initial segment plasticity and hyperactive network activity in hiPSC-derived … | Human Molecular Genetics | Maria WA Teunissen Elly Lewerissa Eline JH van Hugte Shan Wang Charlotte W Ockeloen | 2023/7/15 |
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis | The Journal of clinical investigation | Charlotte Gehin Museer A Lone Winston Lee Laura Capolupo Sylvia Ho | 2023/5/15 |
Systematic analysis of paralogous regions in 41,755 exomes uncovers clinically relevant variation | Nature Communications | Wouter Steyaert Lonneke Haer-Wigman Rolph Pfundt Debby Hellebrekers Marloes Steehouwer | 2023/10/27 |
Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease− associated genes | Genetics in Medicine | Suzanne E de Bruijn Kim Rodenburg Jordi Corominas Tamar Ben-Yosef Janine Reurink | 2023/3/1 |
P159: Variants in cohesin release factors WAPL, PDS5A, and PDS5B define a new class of cohesinopathies | Genetics in Medicine Open | Philip Boone Kamli Faour Kiana Mohajeri John Lemanski Bimal Jana | 2023/1/1 |
