Research Explorer

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Researcher

Eva Vanbelleghem

Publications & Research Data

Awards & Distinctions

9 Results

2025

Autosomal dominant transmission reframes reproductive counseling in Myhre syndrome : a novel family and literature review

Maggie R. BrandEva VanbelleghemAlison C. KayAnne GorielySenol DemirPeter J. HulickBreanne PrindevilleAshley W. WongBert CallewaertAngela E. Lin

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

Cracking rare disorders : a new minimally invasive RNA-seq protocol

Laurenz De CockErika D'haenensLies VantommeLynn BackersAude BeyensKathleen ClaesGriet De ClercqRobin de PutterCandy KumpsNika Schuermans et al.

A1 Journal Article in NPJ GENOMIC MEDICINE

Evaluating variants of uncertain significance in adult knock-in zebrafish : a proof of concept with a COL1A2 variant

Michiel VanhooydonckSophie DebaenstEva VanbelleghemHanna De SaffelDelfien SyxPatrick SipsPaul CouckeAndy WillaertBert Callewaert

Evaluating variants of uncertain significance in adult zebrafish via prime editing: a proof of concept with a COL1A2 variant

Michiel VanhooydonckSophie DebaenstEva VanbelleghemHanna De SaffelDelfien SyxPatrick SipsPaul CouckeAndy WillaertBert Callewaert

U Journal Article in BMC Medical Genomics

Tissue-specific 3D genome and splicing signatures of clinically accessible tissues inform sample selection for assessing the impact of genomic aberrations in neurodevelopmental disorders

Michael B VaughanLara ColomboEsperanza DaalAude BeyensEva VanbelleghemRobbe DerudderSebastian LeimbacherEva D'haeneBert CallewaertSarah Vergult

Variant of uncertain significance testing in zebrafish : a proof of concept using a COL1A2 variant as example

Michiel VanhooydonckSophie DebaenstEva VanbelleghemHanna De SaffelDelfien SyxAndy WillaertPatrick SipsPaul CouckeBert Callewaert

2024

Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations

Eva VanbelleghemTim Van DammeAude BeyensSofie SymoensKathleen ClaesJulie De BackerIlse MeerschautFloris VanommeslaegheSigurd DelangheJenneke van den Ende et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

2023

Incidence of and indications for sperm donor restriction-analysis of patients continuing treatment : a retrospective single-centre study

Eva VanbelleghemVanessa MuyshondRoos ColmanFrauke Vanden MeerschautDominic StoopSandra JanssensKelly Tilleman

A1 Journal Article in REPRODUCTIVE BIOMEDICINE ONLINE

Olmesartan induced weight loss and small vessel vasculitis

Eva VanbelleghemT TaelmanJ WerbrouckL LibbrechtF D’Heygere

A1 Journal Article in ACTA GASTRO-ENTEROLOGICA BELGICA