Toon Rosseel

Gent, VLG, Belgium

Last Updated: 09/26/2026

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Found 33 publications

Next-Generation Sequencing and Variant Analysis of Fibrillar (Pro)Collagens.

Next-Generation Sequencing and Variant Analysis of Fibrillar (Pro)Collagens.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: September 02, 2026

Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population.

Unexpected High Prevalence of Focal Facial Dermal Dysplasia (FFDD) Type IV Is Linked to a Founder Effect in the Belgian Population.

Journal: Clinical genetics

Published: December 06, 2024

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.

Uncovering the genetic architecture of inherited retinal disease in a consanguineous Iranian cohort.

Journal: NPJ genomic medicine

Published: October 01, 2024

Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model.

Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: June 18, 2024

Syntaxin 18 Defects in Human and Zebrafish Unravel Key Roles in Early Cartilage and Bone Development.

Syntaxin 18 Defects in Human and Zebrafish Unravel Key Roles in Early Cartilage and Bone Development.

Journal: Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research

Published: May 03, 2023

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.

ENIGMA CHEK2gether Project: A Comprehensive Study Identifies Functionally Impaired CHEK2 Germline Missense Variants Associated with Increased Breast Cancer Risk.

Journal: Clinical cancer research : an official journal of the American Association for Cancer Research

Published: January 28, 2023

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling.

Journal: Nature genetics

Published: December 22, 2022

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.

Multi-omics approach dissects cis-regulatory mechanisms underlying North Carolina macular dystrophy, a retinal enhanceropathy.

Journal: American journal of human genetics

Published: May 26, 2022

Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.

Prevalence of Germline Pathogenic Variants in Cancer Predisposing Genes in Czech and Belgian Pancreatic Cancer Patients.

Journal: Cancers

Published: July 16, 2021

Dealing with Pseudogenes in Molecular Diagnostics in the Next Generation Sequencing Era.

Dealing with Pseudogenes in Molecular Diagnostics in the Next Generation Sequencing Era.

Journal: Methods in molecular biology (Clifton, N.J.)

Published: June 24, 2021

A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1).

A novel duplication involving PRDM13 in a Turkish family supports its role in North Carolina macular dystrophy (NCMD/MCDR1).

Journal: Molecular vision

Published: March 24, 2021

Long-Read Sequencing to Unravel Complex Structural Variants of CEP78 Leading to Cone-Rod Dystrophy and Hearing Loss.

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

Showing 1-12 of 33

Last Updated: 09/26/2026