Thalia Van Laethem
Gent, VLG, Belgium
Last Updated: 09/26/2026
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Found 8 publications
Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss.
Journal: Frontiers in cell and developmental biology
Published: February 05, 2021
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
Journal: Human mutation
Published: August 01, 2019
Correction: Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: January 05, 2019
Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: July 12, 2018
ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders: novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 20, 2018
arrEYE: a customized platform for high-resolution copy number analysis of coding and noncoding regions of known and candidate retinal dystrophy genes and retinal noncoding RNAs.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 13, 2016
Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.
Journal: American journal of human genetics
Published: March 13, 2016
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Last Updated: 09/26/2026