Brecht Guillemyn

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed et al. · The American Journal of Human Genetics · 2017 · 113 citations · Full text

Genetic Disorder, Genetics, Pathogenesis +3

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies

Charlotte Gistelinck, Ronald Y. Kwon, Fransiska Malfait et al. · Proceedings of the National Academy of Sciences · 2018 · 103 citations · Full text

Genetics, Pathology, Osteogenesis +18

Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model

Sanne D’hondt, Brecht Guillemyn, Delfien Syx et al. · Matrix Biology · 2018 · 75 citations

Fibrosis, Developmental Biology, Tissue Integrity +8

Genetic Defects in TAPT1 Disrupt Ciliogenesis and Cause a Complex Lethal Osteochondrodysplasia

Sofie Symoens, Aileen M. Barnes, Charlotte Gistelinck et al. · The American Journal of Human Genetics · 2015 · 49 citations · Full text

Genome Instability, Developmental Biology, Genetic Disorder +9

Defective Proteolytic Processing of Fibrillar Procollagens and Prodecorin Due to Biallelic <i>BMP1</i> Mutations Results in a Severe, Progressive Form of Osteogenesis Imperfecta

Delfien Syx, Brecht Guillemyn, Sofie Symoens et al. · Journal of Bone and Mineral Research · 2015 · 46 citations · Full text