Silke Peeters

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome

Adrián Palencia‐Campos, Phillip C. Aoto, Erik M.F. Machal et al. · The American Journal of Human Genetics · 2020 · 50 citations · Full text

Developmental Anomaly, Mosaic Variants, Developmental Biology +9

The <i>Lrp4</i>R1170Q Homozygous Knock-In Mouse Recapitulates the Bone Phenotype of Sclerosteosis in Humans

Eveline Boudin, Timur Yorgan, Igor Fijałkowski et al. · Journal of Bone and Mineral Research · 2017 · 31 citations · Full text

Knockout Mouse, Sclerostin, Developmental Biology +15

Molecular characterization and investigation of the role of genetic variation in phenotypic variability and response to treatment in a large pediatric Marfan syndrome cohort

Josephina Meester, Silke Peeters, Lotte Van Den Heuvel et al. · Genetics in Medicine · 2022 · 24 citations · Full text

Genetic Analysis, Molecular Characterization, Mendelian Disorder +12

A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8

Ilse Van Gucht, Josephina Meester, Jotte Rodrigues Bento et al. · The American Journal of Human Genetics · 2021 · 17 citations · Full text

Inflammation, Disease Mechanism, Aortic Diseases +8

DNA Methylation Profiling and Genomic Analysis in 20 Children with Short Stature Who Were Born Small for Gestational Age

Silke Peeters, Ken Declerck, Muriel Thomas et al. · The Journal of Clinical Endocrinology & Metabolism · 2020 · 15 citations · Full text