Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa

Tim Van Damme, Thatjana Gardeitchik, Miski Mohamed, +37

The American Journal of Human Genetics

Genetic DisorderGeneticsPathogenesisMolecular GeneticsDisease Gene Identification +1

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies

Charlotte Gistelinck, Ronald Y. Kwon, Fransiska Malfait, +16

Proceedings of the National Academy of Sciences

GeneticsPathologyOsteogenesisDisease Gene IdentificationCell Specialization +16

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, +12

Matrix Biology

FibrosisDevelopmental BiologyTissue IntegrityPathologyVascular Collagen Fibrillogenesis +6

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

Sofie Symoens, Aileen M. Barnes, Charlotte Gistelinck, +17

The American Journal of Human Genetics

Genome InstabilityDevelopmental BiologyGenetic DisorderGeneticsComplex Lethal Osteochondrodysplasia +7

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, +7

Journal of Bone and Mineral Research

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers–Danlos syndrome

Tim Van Damme, Xiaomeng Pang, Brecht Guillemyn, +18

Human Molecular Genetics

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta

Brecht Guillemyn, Hülya Kayserili, Lynn Demuynck, +6

Human Molecular Genetics

Creb3l1-related Osteogenesis ImperfectaSclerostinGeneticsOsteogenesisMolecular Genetics +17

Loss of <scp>TANGO1</scp> Leads to Absence of Bone Mineralization

Brecht Guillemyn, Sheela Nampoothiri, Delfien Syx, +2

JBMR Plus

Ptosis as a unique hallmark for autosomal recessive <i>WNT1</i>‐associated osteogenesis imperfecta

Sheela Nampoothiri, Brecht Guillemyn, Nursel Elçioğlu, +6

American Journal of Medical Genetics Part A

Functional characterization of the first missense variant in <i>CEP78</i> , a founder allele associated with cone‐rod dystrophy, hearing loss, and reduced male fertility

Giulia Ascari, Frank Peelman, Pietro Farinelli, +28

Human Mutation

GeneticsFounder AllelePathologyMolecular GeneticsDisease Gene Identification +15