Sofie De Schepper

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1–like phenotype

Hilde Brems, Magdalena Chmara, Mourad Sahbatou et al. · Nature Genetics · 2007 · 467 citations

Genome Instability, Developmental Biology, Mendelian Disorder +8

Effect of vitiligo on self-reported health-related quality of life

Katia Ongenae, N. van Geel, Sofie De Schepper et al. · British Journal of Dermatology · 2005 · 249 citations

JAK3 as an Emerging Target for Topical Treatment of Inflammatory Skin Diseases

Ana Karina Alves de Medeiros, Reinhart Speeckaert, Eline Desmet et al. · PLoS ONE · 2016 · 171 citations · Full text

Immunology, Dermatology, Immunotherapy +20

Molecular Dissection of Isolated Disease Features in Mosaic Neurofibromatosis Type 1

Ophélia Maertens, Sofie De Schepper, Jo Vandesompele et al. · The American Journal of Human Genetics · 2007 · 162 citations · Full text

Isolated Disease Features, Neuro-oncology, Surgical Pathology +9

Homozygous <i>NLRP1</i> gain-of-function mutation in siblings with a syndromic form of recurrent respiratory papillomatosis

Scott Drutman, Filomeen Haerynck, Franklin L. Zhong et al. · Proceedings of the National Academy of Sciences · 2019 · 130 citations · Full text