Brecht Guillemyn

发表

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

M. Bertrand, B. Lambrecht, Y. Ishikawa, 2018, Matrix biology : journal of the International Society for Matrix Biology.

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

A. De Paepe, S. Leikin, G. Gillessen‐kaesbach, 2015, American journal of human genetics.

Ptosis as a unique hallmark for autosomal recessive WNT1‐associated osteogenesis imperfecta

N. Elçioglu, S. Nampoothiri, S. Turan, 2019, American journal of medical genetics. Part A.

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

Rachel B. Keller, D. Nickerson, M. Bamshad, 2021, HGG advances.

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

A. Hoischen, T. Meitinger, T. Strom, 2017, American Journal of Human Genetics.

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

H. Kayserili, A. De Paepe, P. Coucke, 2019, Human molecular genetics.

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies

Ronald Y. Kwon, S. Fisher, D. Eyre, 2018, Proceedings of the National Academy of Sciences.

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

M. Vaneechoutte, P. Coucke, Brecht Guillemyn, 2019, Scientific Reports.

Mutations in ATP 6 V 1 E 1 or ATP 6 V 1 A Cause Autosomal-Recessive Cutis Laxa

A. Hoischen, T. Meitinger, T. Strom, 2016 .

Loss of TANGO1 Leads to Absence of Bone Mineralization

S. Nampoothiri, F. Malfait, S. Symoens, 2020, JBMR plus.

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

C. Bachert, C. Rivolta, P. Farinelli, 2020, Human mutation.

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers‐Danlos syndrome

R. Pfundt, S. Nampoothiri, A. Kariminejad, 2018, Human molecular genetics.

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

S. Nampoothiri, E. Steichen‐Gersdorf, F. Laccone, 2019, Orphanet Journal of Rare Diseases.

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

U. Baumann, Y. Ishikawa, S. Nampoothiri, 2021, PLoS genetics.

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

A. Hoischen, T. Meitinger, T. Strom, 2020, American journal of human genetics.

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

A. De Paepe, M. Whiteford, P. Coucke, 2015, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

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

F. van Nieuwerburgh, P. Coucke, A. Willaert, 2023, Human Genetics.

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

S. Kimeswenger, F. Rauch, M. Haun, 2023, EMBO molecular medicine.