Research Explorer

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Researcher

Brecht Guillemyn

Publications & Research Data

Awards & Distinctions

45 Results

2025

DNA sample tracking for diagnostic exome sequencing - a 1-year experience

Peter N. D. CeulemansMatthias De SmetTom SanteGertjan WilsThalia Van LaethemMauro Alessio MilazzoJo VandesompeleFrauke CoppietersSteve LefeverBrecht Guillemyn et al.

U Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

2024

Closing the gap: overcoming the challenges of RPGR ORF15 sequencing, a target for gene therapy of X-linked retinitis pigmentosa

Stijn Van de SompeleMarieke De BruyneMattias Van HeetveldeToon RosseelBart LeroyJulie De ZaeytijdBrecht GuillemynKathleen ClaesKim De LeeneerMiriam Bauwens et al.

U Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

2023

A tapt1 knock-out zebrafish line with aberrant lens development and impaired vision models human early-onset cataract

Tamara JaraysehBrecht GuillemynHanna De SaffelJan Willem BekDelfien SyxSofie SymoensYannick GansemansFilip Van NieuwerburghSujatha JagadeeshJayarekha Raja et al.

A1 Journal Article in HUMAN GENETICS

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress

Ahmed El-GazzarBarbara VorabergerFrank RauchMario MairhoferKaty SchmidtBrecht GuillemynGoran MitulovicVeronika ReitererMargot HaunMichaela M. Mayr et al.

A1 Journal Article in EMBO MOLECULAR MEDICINE

Dual molecular effects of constitutional SF3B2 variants cause a novel dominant spliceosomopathy displaying retinitis pigmentosa or developmental skeletal anomalies

Stijn Van de SompeleCaroline Van CauwenberghMarjolein CarronAlfredo Dueñas ReyFrauke CoppietersToon RosseelHong TranRobrecht CannoodtThalia Van LaethemBrecht Guillemyn et al.

Syntaxin 18 defects in human and zebrafish unravel key roles in early cartilage and bone development

Brecht GuillemynHanna De SaffelJan Willem BekPiyanoot TapaneeyaphanAdelbert De ClercqTamara JaraysehSophie DebaenstAndy WillaertRiet De RyckePeter H. Byers et al.

A1 Journal Article in JOURNAL OF BONE AND MINERAL RESEARCH

Syntaxin-18 defects in human and zebrafish cause traffic jams and unravel key roles in early bone development

Brecht GuillemynHanna De SaffelJan Willem BekPiyanoot TapaneeyaphanAdelbert De ClercqTamara JaraysehSophie DebaenstAndy WillaertPeter ByersPaul Coucke et al.

2022

A tapt1 knockout zebrafish line with aberrant lens development and impaired vision models human pediatric cataract

Tamara JaraysehBrecht GuillemynHanna De SaffelJan Willem BekSujatha JagadeeshSofie SymoensFransiska MalfaitDelfien SyxFilip Van NieuwerburghYannick Gansemans et al.

A tapt1 knockout zebrafish line with aberrant lens development and impaired vision models human pediatric cataract

Tamara JaraysehBrecht GuillemynHanna De SaffelJan Willem BekSujatha JagadeeshSofie SymoensFransiska MalfaitDelfien SyxFilip Van NieuwerburghYannick Gansemans et al.

Four novel families expand the genotypic and phenotypic landscape of MESD-related Osteogenesis Imperfecta

Thao Tran Thao TranRachel KellerBrecht GuillemynMelanie PepinJane CortevilleSamir KhatibMohammad-Sadegh FallahSirous ZeinaliFransiska MalfaitSofie Symoens et al.

Next generation sequencing as a powerful tool to unravel the molecular pathogenesis of osteogenesis imperfecta

Brecht GuillemynFransiska MalfaitSofie Symoens

2021

Aberrant binding of mutant HSP47 affects posttranslational modification of type I collagen and leads to osteogenesis imperfecta

Delfien SyxYoshihiro IshikawaJan GebauerSergei P. BoudkoBrecht GuillemynTim Van DammeSanne D'hondtSofie SymoensSheela NampoothiriDouglas B. Gould et al.

A1 Journal Article in PLOS GENETICS

Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta

Thao T. TranRachel B. KellerBrecht GuillemynMelanie PepinJane E. CortevilleSamir KhatibMohammad-Sadegh FallahSirous ZeinaliFransiska MalfaitSofie Symoens et al.

A2 Journal Article in HUMAN GENETICS AND GENOMICS ADVANCES

Loss of TANGO1 leads to absence of bone mineralization

Brecht GuillemynSheela NampoothiriDelfien SyxFransiska MalfaitSofie Symoens

A2 Journal Article in JBMR PLUS

2020

Functional characterization of novel MFSD8 pathogenic variants anticipates neurological involvement in juvenile isolated maculopathy

Miriam BauwensStephan StorchNicole WeisschuhChantal Ceuterick-de GrooteRiet De RyckeBrecht GuillemynSarah De JaegereFrauke CoppietersRudy Van CosterBart Leroy et al.

A1 Journal Article in CLINICAL GENETICS

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone‐rod dystrophy, hearing loss and reduced male fertility

Giulia AscariFrank PeelmanPietro FarinelliToon RosseelNina LambrechtsKirsten A. WunderlichMatias WagnerKonstantinos NikopoulosPernille MartensIrina Balikova et al.

A1 Journal Article in HUMAN MUTATION

Lack of bone mineralization in a TANGO1 deficient patient

Brecht GuillemynS. NampoothiriO. ForestiI. RaoteV. MalhotraFransiska MalfaitSofie Symoens

Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)

Tim Van DammeThatjana GardeitchikMiski MohamedSergio Guerrero-CastilloPeter FreisingerBrecht GuillemynAriana KariminejadDaisy DalloyauxSanne van KraaijDirk J. Lefeber et al.

2019

A homozygous pathogenic missense variant broadens the phenotypic and mutational spectrum of CREB3L1-related osteogenesis imperfecta

Brecht GuillemynHülya KayseriliLynn DemuynckPatrick SipsAnne De PaepeDelfien SyxPaul CouckeFransiska MalfaitSofie Symoens

A1 Journal Article in HUMAN MOLECULAR GENETICS

Expanding the genotypic and phenotypic spectrum of the B3GAT3 linkeropathy

Marlies ColmanTim Van DammeElisabeth Steichen - GersdorfFranco LacconeSheela NampoothiriDelfien SyxBrecht GuillemynSofie SymoensFransiska Malfait

Expansion of the role and functional characterization of a missense variant in CEP78 associated with cone-rod dystrophy and hearing loss

Giulia AscariFrank PeelmanPietro FarinelliToon RosseelNina LambrechtsIrina BalikovaLara DeryckeGabriële HoltappelsOlga KryskoThalia Van Laethem et al.

Nucleic acids enrichment of fungal pathogens to study host-pathogen interactions

Antonio Rodriguez SánchezBrecht GuillemynPaul CouckeMario Vaneechoutte

A1 Journal Article in SCIENTIFIC REPORTS

Ptosis as a unique hallmark for autosomal recessive WNT1-associated osteogenesis imperfecta

Sheela NampoothiriBrecht GuillemynNursel ElciogluSujatha JagadeeshDhanya YesodharanBeena SureshSerap TuranSofie SymoensFransiska Malfait

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The clinical and mutational spectrum of B3GAT3 linkeropathy : two case reports and literature review

Marlies ColmanTim Van DammeElisabeth Steichen-GersdorfFranco LacconeSheela NampoothiriDelfien SyxBrecht GuillemynSofie SymoensFransiska Malfait

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

2018

A homozygous CREB3L1 missense mutation expands the mutational spectrum of CREB3L1-related osteogenesis imperfecta

Brecht GuillemynDelfien SyxL DemuynckH KayseriliAnne De PaepePaul CouckeFransiska MalfaitSofie Symoens

Biallelic B3GALT6 mutations cause spondylodysplastic Ehlers-Danlos syndrome

Tim Van DammeXiaomeng PangBrecht GuillemynSandrine GulbertiDelfien SyxRiet De RyckeOlivier KayeChristine E. M. de Die-SmuldersRolph PfundtAriana Kariminejad et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

Implementation of an in-house designed skeletal dysplasia gene panel as a first screening step to diagnose unsolved osteogenesis imperfecta(-like) patients

Brecht GuillemynDelfien SyxToon RosseelH KayserliliAM Cueto-GonzálezL Van MaldergemBjörn MentenAnne De PaepePaul CouckeFransiska Malfait et al.

Type III collagen affects dermal and vascular collagen fibrillogenesis and tissue integrity in a mutant Col3a1 transgenic mouse model

Sanne D'hondtBrecht GuillemynDelfien SyxSofie SymoensRiet De RyckeLeen VanhoutteWendy ToussaintBart LambrechtAnne De PaepeDouglas R Keene et al.

A1 Journal Article in MATRIX BIOLOGY

Zebrafish type I collagen mutants faithfully recapitulate human type I collagenopathies

Charlotte GistelinckRonald Y KwonFransiska MalfaitSofie SymoensMatthew P HarrisKatrin HenkeMichael B HawkinsShannon FisherPatrick SipsBrecht Guillemyn et al.

A1 Journal Article in PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

2017

Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa

Tim Van DammeThatjana GardeitchikMiski MohamedSergio Guerrero-CastilloPeter FreisingerBrecht GuillemynAriana KariminejadDaisy DalloyauxSanne van KraaijDirk J Lefeber et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development

Sanne D'hondtBrecht GuillemynSofie SymoensRiet De RyckeYoshi IshikawaHans Peter BachingerSophie JanssensMathieu BertrandFransiska Malfait

Whole-exome sequencing as a powerful tool to unravel the molecular pathogenesis of osteogenesis imperfecta

Brecht GuillemynTim Van DammeDelfien SyxS NampoothiriH KayseriliAM Cueto-GonzálezL Van MaldergemAnne De PaepeFransiska MalfaitPaul Coucke et al.

2016

A homozygous B3GAT3 mutation causes a multisystemic cutis laxa-like syndrome, expanding the phenotype of linkeropathies

Brecht GuillemynTim Van DammeWouter SteyaertDelfien SyxPaul CouckeAnne De PaepeSofie SymoensSheela NampoothiriFransiska Malfait

Differential expression of type III collagen in male and female mice

Sanne D'hondtBrecht GuillemynSofie SymoensYoshi IshikawaHans Peter BachingerSophie JanssensMathieu BertrandFransiska Malfait

Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : functional characterization of N-terminal TIMP3 mutation

Sarah NaessensDelfien SyxRoosmarijn VandenbrouckeBrecht GuillemynSarah De JaegereBart LeroyElfride De BaereFrauke Coppieters

Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : N-terminal TIMP3 mutation 15 years later

Sarah NaessensDelfien SyxRoosmarijn VandenbrouckeBrecht GuillemynSarah De JaegereBart LeroyElfride De BaereFrauke Coppieters

Elucidation of the molecular cause underlying Sorsby fundus dystrophy in a large Belgian pedigree : N-terminal TIMP3 mutation 15 years later

Sarah NaessensDelfien SyxRoosmarijn VandenbrouckeBrecht GuillemynSarah De JaegereBart LeroyElfride De BaereFrauke Coppieters

Type III collagen is important for dermal and cardiovascular development, and type I collagen fibrillogenesis

Sanne D'hondtBrecht GuillemynSofie SymoensRiet De RyckeYoshi IshikawaHans Peter BachingerSophie JanssensMathieu BertrandFransiska Malfait

Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development

Sanne D'hondtBrecht GuillemynSofie SymoensRiet De RyckeYoshi IshikawaHans Peter BachingerSophie JanssensMathieu BertrandFransiska Malfait

2015

Defective proteolytic processing of fibrillar procollagens and prodecorin due to biallelic BMP1 mutations results in a severe, progressive form of osteogenesis imperfecta

Delfien SyxBrecht GuillemynSofie SymoensAna Berta SousaAna MedeiraMargo WhitefordTrinh Hermanns-LêPaul CouckeAnne De PaepeFransiska Malfait

A1 Journal Article in JOURNAL OF BONE AND MINERAL RESEARCH

Genetic defects in TAPT1 disrupt ciliogenesis and cause a complex lethal osteochondrodysplasia

Sofie SymoensAileen M BarnesCharlotte GistelinckFransiska MalfaitBrecht GuillemynWouter SteyaertDelfien SyxSanne D'hondtMartine BiervlietJulie De Backer et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Type III collagen is important for collagen fibrillogenesis and for dermal and cardiovascular development

Sanne D'hondtBrecht GuillemynSofie SymoensWendy ToussaintLeen VanhoutteRiet De RyckePaul CouckeBart LambrechtPatrick SegersAnne De Paepe et al.

Type III collagen is important for type I collagen fibrillogenesis and for dermal and cardiovascular development

Sanne D'hondtBrecht GuillemynSofie SymoensWendy ToussaintLeen VanhoutteRiet De RyckePaul CouckePatrick SegersBart LambrechtAnne De Paepe et al.

2014

Defects in TAPT1, involved in axial skeletal patterning, cause a complex lethal recessive disorder of skeletal development

Sofie SymoensAileen BarnesCharlotte GistelinckFransiska MalfaitKris VleminckxBrecht GuillemynDelfien SyxWouter SteyaertEef ParthoensMartine Biervliet et al.

2012

Development of a novel COL3A1 transgenic mouse model for vascular Ehlers Danlos Syndrome

Yike KangSofie SymoensFransiska MalfaitPaul CouckeMarjolijn RenardBrecht GuillemynJulie De BackerFilipe Branco MadeiraWendy ToussaintLeen Vanhoutte et al.