Brecht Guillemyn

Gent, VLG, Belgium

Last Updated: 09/26/2026

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Found 20 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

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

A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract.

A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract.

Journal: Human genetics

Published: October 28, 2022

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

Journal: EMBO molecular medicine

Published: September 02, 2022

Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta.

Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta.

Journal: HGG advances

Published: April 15, 2021

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

Journal: American journal of human genetics

Published: August 09, 2020

Loss of TANGO1 Leads to Absence of Bone Mineralization.

Loss of TANGO1 Leads to Absence of Bone Mineralization.

Journal: JBMR plus

Published: June 17, 2020

Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta.

Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta.

Journal: PLoS genetics

Published: November 13, 2019

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy.

Journal: Clinical genetics

Published: September 06, 2019

Nucleic acids enrichment of fungal pathogens to study host-pathogen interactions.

Nucleic acids enrichment of fungal pathogens to study host-pathogen interactions.

Journal: Scientific reports

Published: August 30, 2019

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.

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

The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review.

The clinical and mutational spectrum of B3GAT3 linkeropathy: two case reports and literature review.

Journal: Orphanet journal of rare diseases

Published: January 23, 2019

Showing 1-12 of 20

Last Updated: 09/26/2026