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Genetics in Medicine : Official Journal of the American College of Medical Genetics|July 28, 2017
Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variationsKristof Van Schil, Sarah Naessens, Stijn Van de Sompele, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 10, 2018
Correction: Mapping the genomic landscape of inherited retinal disease genes prioritizes genes prone to coding and noncoding copy-number variationsKristof Van Schil, Sarah Naessens, Stijn Van de Sompele, et al.
NPJ Genomic Medicine|March 7, 2025
Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohortLieselot Vincke, Kristof Van Schil, Hamid Ahmadieh, et al.
Human Mutation|May 8, 2026
Variant Curation of the Largest Compendium of FOXL2 Coding and Noncoding Sequence and Structural Variants in BPESCharlotte Matton, Julie Van De Velde, Marieke De Bruyne, et al.
American Journal of Human Genetics|August 4, 2016
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in UbiquitinationFrauke Coppieters, Giulia Ascari, Katharina Dannhausen, et al.
Frontiers in Cell and Developmental Biology|May 10, 2021
Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing LossGiulia Ascari, Nanna D Rendtorff, Marieke De Bruyne, et al.
Clinical Genetics|August 29, 2024
Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variantsMiriam Bauwens, Vincent De Man, Isabelle Audo, et al.
Genome Medicine|January 6, 2024
Combining a prioritization strategy and functional studies nominates 5'UTR variants underlying inherited retinal diseaseAlfredo Dueñas Rey, Marta Del Pozo Valero, Manon Bouckaert, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|January 24, 2019
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variantsMiriam Bauwens, Alejandro Garanto, Riccardo Sangermano, et al.
The Journal of Clinical Investigation|March 2, 2023
CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesisNafisa Nuzhat, Kristof Van Schil, Sandra Liakopoulos, et al.
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