Research Explorer

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Researcher

Lore Pottie

Publications & Research Data

Awards & Distinctions

31 Results

2025

Investigating chromosomal radiosensitivity in inborn errors of immunity : insights from DNA repair disorders and beyond

Elien BeylsEvi DuthooLynn BackersKarlien Claes[missing] RAPID CliniciansTessa KerreB. LambrechtLevi HosteB. MeertensT. Van Genechten et al.

A1 Journal Article in JOURNAL OF CLINICAL IMMUNOLOGY

Neonatal cholestasis progressing to a multisystem syndrome with liver cirrhosis in two siblings with FARSA deficiency : an evolving hepatological phenotype

Yoni AelvoetPATRICK VERLOOArnaud VanlanderSaskia Vande VeldeStephanie Van BiervlietPauline De BruyneLevi HosteAnnelies DheedeneLore PottieAnne Hoorens et al.

A2 Journal Article in JIMD REPORTS

Retrospective analysis of virtual gene panel analysis for genodermatoses reveals a high diagnostic yield in clinical practice

Aude BeyensJozefien WeytensLore PottieSofie De MeulemeesterKarolien AelbrechtSilke De FeyterSofie De SchepperEline Van HolmSofie SymoensBert Callewaert

A1 Journal Article in JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

2024

Early mechanisms of aortic failure in a zebrafish model for thoracic aortic dissection and rupture

Michiel VanhooydonckMaxim VerleeMarta Guerreiro Santana Ramos Da SilvaLore PottieAnnekatrien BoelMatthias Van ImpeHanna De SaffelLisa CaboorPiyanoot TapaneeyaphanAnne Bonnin et al.

Early mechanisms of aortic failure in a zebrafish model for thoracic aortic dissection and rupture

Michiel VanhooydonckMaxim VerleeMarta Guerreiro Santana Ramos Da SilvaLore PottieAnnekatrien BoelMatthias Van ImpeHanna De SaffelLisa CaboorPiyanoot TapaneeyaphanAnne Bonnin et al.

Immunogenomics solves missing heritability and ends the diagnostic odyssey in RAG1-SCID

Marieke De BruyneLore PottieStijn Van de SompeleNancy De CabooterDelfien BogaertLevi HosteToon RosseelKim De LeeneerVictoria BordonJana Neirinck et al.

PTPN2 deficiency expands the monogenetic causes of dysregulated JAK/STAT signaling resulting in autoimmunity

Leslie NaesensBram MeertensLore PottieMarieke De BruyneCiel De VriendtTessa KerreSimon TavernierFilomeen Haerynck

The clinical use of exome sequencing to diagnose PCD patients

Lore PottieSofie SymoensElfride De BaereKathleen Claes

Unveiling PTPN2 mutations in two families as a novel genetic driver fueling autoimmunity

Leslie NaesensBram MeertensMarieke De BruyneLore PottieCiel De VriendtTessa KerreSimon TavernierFilomeen Haerynck

2023

The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture

Michiel VanhooydonckMaxim VerleeLore PottieAnnekatrien BoelPiyanoot TapaneeyaphanMarta Guerreiro Santana Ramos Da SilvaAdelbert De ClercqLisa CaboorMatthias Van ImpeDelfien Syx et al.

The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture

Michiel VanhooydonckLore PottieAnnekatrien BoelPiyanoot TapaneeyaphanMarta Guerreiro Santana Ramos Da SilvaAdelbert De ClercqMatthias Van ImpeDelfien SyxAndy WillaertLisa Caboor et al.

The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture

Michiel VanhooydonckMaxim VerleeLore PottieAnnekatrien BoelPiyanoot TapaneeyaphanMarta Guerreiro Santana Ramos Da SilvaAdelbert De ClercqLisa CaboorMatthias Van ImpeDelfien Syx et al.

2022

Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome

Lore PottieChristin S. AdamoAude BeyensSteffen LuetkePiyanoot TapaneeyaphanAdelbert De ClercqPhil SalmonRiet De RyckeAlper GezdiriciElif Yilmaz Gulec et al.

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

Christin S. AdamoAude BeyensAlvise SchiavinatoDouglas R. KeeneSara F. TufaMatthias MorgelinJurgen BrinckmannTakako SasakiAnja NiehoffMaren Dreiner et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture

Michiel VanhooydonckLore PottieAnnekatrien BoelPiyanoot TapaneeyaphanMarta Guerreiro Santana Ramos Da SilvaLisa CaboorAdelbert De ClercqMatthias Van ImpeAndy WillaertPatrick Sips et al.

The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture

Michiel VanhooydonckLore PottieAnnekatrien BoelPiyanoot TapaneeyaphanMarta Guerreiro Santana Ramos Da SilvaAdelbert De ClercqLisa CaboorMatthias Van ImpeAndy WillaertPatrick Sips et al.

2021

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

Lore PottieChristin S. AdamoAude BeyensSteffen LütkePiyanoot TapaneeyaphanAdelbert De ClercqPhil L. SalmonRiet De RyckeAlper GezdiriciElif Yilmaz Gulec et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (vol 108, pg 1095, 2021)

Lore PottieChristin S. AdamoAude BeyensSteffen LutkePiyanoot TapaneeyaphanAdelbert De ClercqPhil L. SalmonRiet De RyckeAlper GezdiriciElif Yilmaz Gulec et al.

Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis

Aude BeyensLore PottiePatrick SipsBert Callewaert

Bookchapter in Progress in Heritable Soft Connective Tissue Diseases

Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis (vol 1348, pg 273, 2021)

Aude BeyensLore PottiePatrick SipsBert Callewaert

Bookchapter in Progress in Heritable Soft Connective Tissue Diseases

Exploring cutis laxa syndromes in vitro and in vivo through zebrafish modeling : lessons learnt from recently and newly discovered disease-causing genes

Lore PottieBert CallewaertPatrick Sips

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

Lore PottieWouter Van GoolMichiel VanhooydonckFranz-Georg HanischGeert GoeminneAndreja RajkovicPaul CouckePatrick SipsBert Callewaert

A1 Journal Article in PLOS GENETICS

Loss-of-function variants in EFEMP1 cause a recognizable connective tissue disorder characterized by cutis laxa and multiple herniations

Maxim VerleeAude BeyensAlper GezdiriciElif GulecLore PottieSilke De FeyterMichiel VanhooydonckPiyanoot TapaneeyaphanSofie SymoensBert Callewaert

A1 Journal Article in GENES

2020

Mutations in LTBP1 cause autosomal recessive cutis laxa syndrome

Lore PottieAlper GezdiriciChristin AdamoWilliam NewmanAude BeyensRiet De RyckeAdelbert De ClercqPatrick SipsGerhard SengleBert Callewaert

2019

Defining the clinical, molecular and ultrastructural characteristics in occipital horn syndrome : two new cases and review of the literature

Aude BeyensKyaran Van MeenselLore PottieRiet De RyckeMichiel De BruyneFemke BaekePiet HoebekeFrank PlasschaertBart LoeysSofie De Schepper et al.

A1 Journal Article in GENES

Knock-out of atp6v1e1b in zebrafish faithfully recapitulates the human cutis laxa syndrome and highlights the endosomal pathway in disease pathogenesis

Lore PottiePatrick SipsBert CallewaertPetra VermassenHanna De SaffelPaul Coucke

Knock-out of atp6v1e1b in zebrafish faithfully recapitulates the human cutis laxa syndrome and highlights the endosomal pathway in disease pathogenesis.

Lore PottiePatrick SipsHanna De SaffelPetra VermassenPaul CouckeBert Callewaert

Transcriptome and protein analysis highlight the endosomal pathway in disease pathogenesis of metabolic CL syndrome

Lore PottieWouter Van GoolMichiel Van HooydonckPaul CouckePatrick SipsBert Callewaert

2018

A mutant ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome

Lore PottiePatrick SipsPaul CouckeBert Callewaert

A mutant ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome

Lore PottiePatrick SipsPaul Coucke

ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome

Lore PottiePatrick SipsPaul CouckeBert Callewaert