Lotte Van Den Heuvel

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 · 26 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

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 · 20 citations · Full text

Medicine, Cardiology, Molecular Medicine +15

Clinically relevant variants in a large cohort of Indian patients with Marfan syndrome and related disorders identified by next-generation sequencing

Shalini S. Nayak, Pauline E. Schneeberger, Siddaramappa J. Patil et al. · Scientific Reports · 2021 · 14 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings

Ilse Van Gucht, Alice Krebsová, Birgitte Rode Diness et al. · International Journal of Molecular Sciences · 2021 · 13 citations · Full text

Medicine, Genetics, Molecular Genetics +16