Lore Pottie
Gent, VLG, Belgium
Last Updated: 09/26/2026
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Found 14 publications
Ureaplasma parvum septic arthritis in LRBA deficiency: An infectious mimic of autoimmune arthritis.
Journal: Journal of human immunity
Published: May 03, 2026
Unmasking NF1 mosaicism: optical genome mapping identifies a novel t(15;17) translocation in melanocytes.
Journal: Journal of medical genetics
Published: January 23, 2026
Smad3 deficiency attenuates disease severity in a zebrafish model for Smad6-related aortic disease.
Journal: Angiogenesis
Published: October 08, 2025
Neonatal Cholestasis Progressing to a Multisystem Syndrome With Liver Cirrhosis in Two Siblings With FARSA Deficiency: An Evolving Hepatological Phenotype.
Journal: JIMD reports
Published: January 24, 2025
Investigating Chromosomal Radiosensitivity in Inborn Errors of Immunity: Insights from DNA Repair Disorders and Beyond.
Journal: Journal of clinical immunology
Published: August 14, 2024
Retrospective analysis of virtual gene panel analysis for genodermatoses reveals a high diagnostic yield in clinical practice.
Journal: Journal of the American Academy of Dermatology
Published: December 07, 2023
Correction to: Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Elastic Fiber Homeostasis.
Journal: Advances in experimental medicine and biology
Published: January 05, 2022
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Journal: American journal of human genetics
Published: December 03, 2021
Clinical and Molecular Delineation of Cutis Laxa Syndromes: Paradigms for Homeostasis.
Journal: Advances in experimental medicine and biology
Published: November 22, 2021
Loss-of-Function Variants in EFEMP1 Cause a Recognizable Connective Tissue Disorder Characterized by Cutis Laxa and Multiple Herniations.
Journal: Genes
Published: March 09, 2021
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Journal: American journal of human genetics
Published: January 23, 2021
Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures.
Journal: PLoS genetics
Published: October 13, 2020
Last Updated: 09/26/2026