Concepedia

Lore Pottie

LP

Statistics

Publications

4

Citations

77

H-Index

4

Active since

2021

Affiliations

Ghent University Hospital(Current)

Ghent University

İstanbul Kanuni Sultan Süleyman Eğitim ve Araştırma Hastanesi

University of Cologne

Istanbul Metropolitan Municipality

Lore Pottie is an author at Ghent University Hospital specializing in molecular genetics, genetic disorders, and cutis laxa syndromes.

Publications per year

2021–2022

4

Publications

4

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome

Lore Pottie, Christin S. Adamo, Aude Beyens et al. · The American Journal of Human Genetics · 2021 · 33 citations · Full text

Life Sciences, Genetics, Molecular Genetics +9

EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis

Christin S. Adamo, Aude Beyens, Alvise Schiavinato et al. · The American Journal of Human Genetics · 2022 · 22 citations · Full text

Medicine, Pathology, Physiology +11

Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations

Maxim Verlee, Aude Beyens, Alper Gezdirici et al. · Genes · 2021 · 12 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures

Lore Pottie, Wouter Van Gool, Michiel Vanhooydonck et al. · PLoS Genetics · 2021 · 10 citations · Full text

Medicine, Genetics, Molecular Genetics +15

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