Research Explorer

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Researcher

Sofie Symoens

Publications & Research Data

Awards & Distinctions

171 Results

2026

Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations ( vol 32, pg 1086, 2024)

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

Prenatal Shwachman‐Diamond Syndrome : diagnostic challenges in two unrelated cases with a rare clinical presentation and pseudogene interference, and a review of the literature

Nathalie Vanden EyndeIleen SlegersElise VantroysSofie SymoensElisa DonéAnniek VorsselmansAstrid LeusStefanie BrockKathelijn KeymolenFrederik Jan Hes et al.

A1 Journal Article in PRENATAL DIAGNOSIS

The importance of being earnest : putting molecular analysis for the diagnosis of pseudoxanthoma elasticum in perspective

Shana VerschuereSofie SymoensDelfien SyxPaul CouckeOlivier Vanakker

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

2025

Accurate quantification of mitochondrial DNA heteroplasmy and copy number at the single cell level with digital PCR (Award Candidate)

Noemi CastelluccioAndrei RybouchkinSofie SymoensWim TrypsteenPaul CouckeBjörn MentenWard De SpiegelaereDominic StoopBjörn Heindryckx

Atypical glutamic acid to lysine substitution in the triple helix of type III collagen manifests as overlap between classical and vascular Ehlers-Danlos syndrome

Margot CallensDelfien SyxShana VerschuereSofie SymoensFransiska Malfait

Autosomal recessive cutis laxa type 1C with LTBP4 mutation : unmasking an exceptional case in the Indian subcontinent

Dharitree SenapatiVibhu MendirattaBert CallewaertKiran AgarwalMd Ali OsamaAude BeyensSofie Symoens

A2 Journal Article in INDIAN DERMATOLOGY ONLINE JOURNAL

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

RNA-sequencing unveils FLT4 splice site variants in variable congenital heart disease

Maxim VerleeErika D'haenensLaurenz De CockLaura Muiño MosqueraKatya De GrooteKristof VandekerckhoveJoseph PanzerEllen RoetsBjörn MentenSofie Symoens et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

RNA-sequencing unveils novel FLT4 splice site variants in isolated CHD

Maxim VerleeErika D'haenensLaurenz De CockLaura Muiño MosqueraKatya De GrooteKristof VandekerckhoveJoseph PanzerEllen RoetsBjörn MentenSofie Symoens et al.

Unexpected high prevalence of focal facial dermal dysplasia (FFDD) type IV is linked to a founder effect in the Belgian population

Aude BeyensStefanie van de VoordeMarta Guerreiro Santano Ramos Da SilvaSofie De MeulemeesterKoen DevriendtMarleen GoeteynSandra JanssensR. Frank KooyToon RosseelSofie Symoens et al.

A1 Journal Article in CLINICAL GENETICS

2024

Aligning genotyping and copy number data in single trophectoderm biopsies for aneuploidy prediction : uncovering incomplete concordance

Lisa De WitteMachteld BaetensKelly TillemanFrauke Vanden MeerschautSandra JanssensAriane Van TongerlooVirginie SzymczakDominic StoopAnnelies DheedeneSofie Symoens et al.

A1 Journal Article in HUMAN REPRODUCTION OPEN

An unexpected high prevalence of Focal Facial Dermal Dysplasia (FFDD) type IV is linked to a founder effect in the Belgian population

Karolien AelbrechtAude BeyensSofie De MeulemeesterKoen DevriendtMarleen GoeteynFrank KooyEvelyn MeulewaeterSofie SymoensBert Callewaert

Association of antenatal evaluations with postmortem and genetic findings in the series of fetal osteogenesis imperfecta

Leyli SenturkCagri GulecTugba Sarac SivrikozHulya KayseriliIbrahim Halil KaleliogluSahin AvciRecep HasPaul CouckeTugba KalayciBernd Wollnik et al.

A1 Journal Article in FETAL DIAGNOSIS AND THERAPY

Classic Ehlers-Danlos syndrome

Fransiska MalfaitSofie SymoensDelfien Syx

Bookchapter in GeneReviews®

High rate of detected variants in male PLCZ1 and ACTL7A genes causing failed fertilization after ICSI

Arantxa Cardona BarberánRamesh Reddy GuggillaCora ColenbierEmma Van der VeldenAndrei RybouchkinDominic StoopLuc LeybaertPaul CouckeSofie SymoensAnnekatrien Boel et al.

A1 Journal Article in HUMAN REPRODUCTION OPEN

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

The clinical use of exome sequencing to diagnose PCD patients

Lore PottieSofie SymoensElfride De BaereKathleen Claes

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

C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD

Pedro Ervilha PereiraNika SchuermansAntoon MeylemansPontus LeBlancLauren VersluysKE CopleyJD RubienC AltheimerMyra PeetermansElke Debackere et al.

A1 Journal Article in ACTA NEUROPATHOLOGICA

Exome sequencing and multigene panel testing in 1,411 patients with adult-onset neurologic disorders

Nika SchuermansHannah VerdinJody GhijselsMadeleine HellemansElke DebackereElke BogaertSofie SymoensLeslie NaesensElien LecomteDavid Crosiers et al.

A1 Journal Article in NEUROLOGY-GENETICS

Preimplantation genetic testing in Belgium : recommendations for the genetic centres

E Fernandez GallardoM De RyckeV BerckmoesP VerdyckE DimitriadouO TsuikoE DenayerMachteld BaetensSandra JanssensSofie Symoens et al.

Reliability of blastomere versus trophectoderm biopsy in preimplantation genetic testing for mitochondrial DNA disorders

Noemi CastelluccioRamesh Reddy GuggillaAndrei RybouchkinDominic StoopSofie SymoensPaul CouckeAnnekatrien BoelBjörn Heindryckx

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.

The role of MCM9 in the etiology of Sertoli cell-only syndrome and premature ovarian insufficiency

Iulia PotoracMarie LaterreOlivier MalaiseVlad NechiforCorinne FasquelleOrphal ColleyeNancy DetrembleurHannah VerdinSofie SymoensElfride De Baere et al.

A1 Journal Article in JOURNAL OF CLINICAL MEDICINE

2022

A structural variant of the C-terminal prion-like domain of TDP-43 causes vacuolar muscle degeneration

Pedro Ervilha PereiraNika SchuermansAntoon MeylemansPontus LeBlancL VersluysElke DebackereOlivier VanakkerSara JanssensJonathan BaetsK Verhoeven 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.

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.

Atypical variants in COL1A1 and COL3A1 associated with classical and vascular Ehlers-Danlos syndrome overlap phenotypes : expanding the clinical phenotype based on additional case reports

Marlies ColmanMarco CastoriLucia MicaleMarco RitelliMarina ColombiNeeti GhaliFleur Van DijkLuisa MarsiliAdrienne WeeksAnthony Vandersteen et al.

A1 Journal Article in CLINICAL AND EXPERIMENTAL RHEUMATOLOGY

Belgian guidelines for the frequency of participation of the Medical Centers of Human Genetics to external quality assessment schemes for analyses focused on rare diseases

Josephine LantoineAnne BrysseVinciane DidebergKathleen ClaesSofie SymoensWim CouckeValerie BenoitSonia RomboutMartine De RyckeSara Seneca 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

Exploring the mutational landscape of isolated congenital heart defects : an exome sequencing study using cardiac DNA

Ilse MeerschautWouter SteyaertThierry BovéKatrien FrancoisThomas MartensKatya De GrooteHans De WildeLaura Muiño MosqueraJoseph PanzerKristof Vandekerckhove et al.

A1 Journal Article in GENES

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.

GENType : all-in-one preimplantation genetic testing by pedigree haplotyping and copy number profiling suitable for third-party reproduction

Lisa De WitteLennart RamanMachteld BaetensAndries De KokerNico CallewaertSofie SymoensKelly TillemanFrauke Vanden MeerschautAnnelies DheedeneBjörn Menten

A1 Journal Article in HUMAN REPRODUCTION

Human germline nuclear transfer to overcome mitochondrial disease and failed fertilization after ICSI

Maoxing TangAnnekatrien BoelNoemi CastelluccioArantxa Cardona BarberánAntonia ChristodoulakiBieke BekaertMina PopovicFrauke Vanden MeerschautPetra De SutterBjörn Menten et al.

A1 Journal Article in JOURNAL OF ASSISTED REPRODUCTION AND GENETICS

Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : further insights into the phenotypic spectrum and pathogenic mechanisms

Marlies ColmanRobin VromanTibbe DhoogeZoë MalfaitSofie SymoensBiruté BurnytéSheela NampoothiriAriana KariminejadFransiska MalfaitDelfien Syx

A1 Journal Article in HUMAN MUTATION

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

Brecht GuillemynFransiska MalfaitSofie Symoens

Risk of malignant hyperthermia in patients carrying a variant in the ryanodine receptor 1 gene

Sarah HerdewynL JanssensJ De PuydtSofie SymoensJan De Bleecker

Risk of malignant hyperthermia in patients carrying a variant in the skeletal muscle ryanodine receptor 1 gene

Lise JanssensJoris De PuydtMauro Alessio MilazzoSofie SymoensJan De BleeckerSarah Herdewyn

A1 Journal Article in NEUROMUSCULAR DISORDERS

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

Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen

Tibbe DhoogeDelfien SyxTrinh Hermanns-LêIngrid HausserGeert MortierJonathan ZonanaSofie SymoensPeter H. ByersFransiska Malfait

A1 Journal Article in GENETICS IN MEDICINE

Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome

Marlies ColmanDelfien SyxInge De WandeleTibbe DhoogeSofie SymoensFransiska Malfait

A1 Journal Article in HUMAN MUTATION

Cutis laxa : a comprehensive overview of clinical characteristics and pathophysiology

Aude BeyensAnnekatrien BoelSofie SymoensBert Callewaert

A1 Journal Article in CLINICAL GENETICS

Digital polymerase chain reaction for assessment of mutant mitochondrial carry-over after nuclear transfer for in vitro fertilization

Olivier TytgatMaoxing TangWillem van SnippenbergAnnekatrien BoelRamesh Reddy GuggillaYannick GansemansMichiel Van HerpSofie SymoensWim TrypsteenDieter Deforce et al.

A1 Journal Article in CLINICAL CHEMISTRY

Digital polymerase chain reaction for assessment of mutant mitochondrial carry-over after nuclear transfer for In Vitro fertilization

Olivier TytgatMX TangWillem van SnippenbergAnnekatrien BoelRR GuggillaYannick GansemansMichiel Van HerpSofie SymoensWim TrypsteenDieter Deforce et al.

A1 Journal Article in CLINICAL CHEMISTRY

Frequency of participation in external quality assessment programs focused on rare diseases : Belgian guidelines for human genetics centers

Josephine LantoineAnne BrysseVinciane DidebergKathleen ClaesSofie SymoensWim CouckeValerie BenoitSonia RomboutMartine De RyckeSara Seneca et al.

A1 Journal Article in JMIR MEDICAL INFORMATICS

Loss of TANGO1 leads to absence of bone mineralization

Brecht GuillemynSheela NampoothiriDelfien SyxFransiska MalfaitSofie Symoens

A2 Journal Article in JBMR PLUS

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

More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

Tibbe DhoogeTim Van DammeDelfien SyxLaura Muiño MosqueraSheela NampoothiriAnil RadhakrishnanPelin O. Simsek-KiperGulen E. UtineMaryse BonduelleIsabelle Migeotte et al.

A1 Journal Article in HUMAN MUTATION

Two cases of DCDC2‐related neonatal sclerosing cholangitis with developmental delay and literature review

Hannes SyrynAnne HoorensTassos GrammatikopoulosMaesha DeheragodaSofie SymoensSaskia Vande VeldeStephanie Van BiervlietMyriam Van WinckelPATRICK VERLOOBert Callewaert et al.

A1 Journal Article in CLINICAL GENETICS

2020

A clinical scoring system for congenital contractural arachnodactyly

Ilse MeerschautShana De ConinckWouter SteyaertAngela BarnicoatAllan BayatFrancesco BenedicentiSiren BerlandEdward M. BlairJeroen BreckpotAnna de Burca et al.

A1 Journal Article in GENETICS IN MEDICINE

A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix

Stylianos Z KarouliasAude BeyensZerina BalicSofie SymoensAnthony VandersteenAndrea L RideoutJohn DickinsonBert CallewaertDirk Hubmacher

A1 Journal Article in MATRIX BIOLOGY

Homozygous EMILIN1 loss-of-function variants impair both elastin and collagen fiber formation and cause a novel entity with arterial tortuosity and osteopenia

Aude BeyensC. AdamoE. Yilmaz GulecA. GezdiriciP. BonaldoH. BornaunE. BrauchleJ. BrinckmannW. P. DevineB. Gangaram et al.

Hypomorphic zebrafish models mimic the musculoskeletal phenotype of β4GalT7-deficient Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammeDelfien SyxSofie SymoensPaul CouckeAndy WillaertFransiska Malfait

A1 Journal Article in MATRIX BIOLOGY

Lack of bone mineralization in a TANGO1 deficient patient

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

More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome

Tibbe DhoogeTim Van DammeDelfien SyxLaura Muiño MosqueraSheela NampoothiriAnil RadhakrishnanPelin Simsek-KiperGülen Eda UtineMaryse BonduelleIsabelle Migeotte et al.

More than meets the eye in Brittle Cornea Syndrome : genotype-phenotype studies on novel and reported pathogenic variants in ZNF469 and PRDM5

Tibbe DhoogeTim Van DammeDelfien SyxSofie SymoensFransiska Malfait

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.

New insights on the clinical variability of FKBP10 mutations

Osama EssawiPiyanoot TapaneeyaphanSofie SymoensCharlotte GistelinckFransiska MalfaitDavid EyreTamer EssawiBert CallewaertPaul Coucke

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

Sarah DelbaereTibbe DhoogeDelfien SyxFlorence PetitNathalie GoemansAnne DestréeOlivier VanakkerRiet De RyckeSofie SymoensFransiska Malfait

A1 Journal Article in GENETICS IN MEDICINE

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

ATP6V0A2-related cutis laxa in 10 novel patients : focus on clinical variability and expansion of the phenotype

Aude BeyensEster Moreno-ArteroChristine BodemerHelen CoxAlper GezdiriciElif Yilmaz GulecNajoua KahloulPhilippe Khau Van KienGonul OgurAnnie Harroche et al.

A1 Journal Article in EXPERIMENTAL DERMATOLOGY

Bi-allelic AEBP1 mutations in two patients with Ehlers-Danlos syndrome

Delfien SyxInge De WandeleSofie SymoensRiet De RyckeOlivier HougrandNicol VoermansAnne De PaepeFransiska Malfait

A1 Journal Article in HUMAN MOLECULAR GENETICS

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

Delineating Ehlers-Danlos syndrome, the classical subtype : molecular and clinical characteristics of a large patient cohort.

Marlies ColmanInge De WandeleTibbe DhoogeSofie SymoensDelfien SyxFransiska Malfait

Expanding the genotypic and phenotypic spectrum of the B3GAT3 linkeropathy

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

Heterozygous defects in collagen XII cause myopathic Ehlers-Danlos syndrome and lead to variant-specific alterations in the extracellular matrix

Sarah DelbaereTibbe DhoogeDelfien SyxFlorence PetitNathalie GoemansAnne DestreeOlivier VanakkerRiet De RyckeSofie SymoensFransiska Malfait

Myopathic Ehlers-Danlos syndrome : expanding the clinical and mutational spectrum with five new families

Tibbe DhoogeSarah DelbaereDelfien SyxSofie SymoensFransiska Malfait

Novel defects in collagen XII and VI expand the mixed Myopathy/Ehlers-Danlos syndrome spectrum

Tibbe DhoogeSarah DelbaereDelfien SyxSofie SymoensFransiska Malfait

Novel defects in collagen XII and VI expand the mixed Myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

Tibbe DhoogeSarah DelbaereDelfien SyxSofie SymoensFransiska Malfait

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

Vascular Ehlers-Danlos syndrome in 2 Polish patients : identification of 2 novel COL3A1 gene mutations

Malgorzata KonieczynskaEwa WypasekMarek KarpinskiMonika KomarSofie SymoensPaul CouckeAnetta Undas

Editorial material

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

BVES loss-of-function mutations in limb-girdle muscular dystrophy 2X with cardiac conduction disorders

I NelsonW De RidderB AsselberghBoel De PaepeM BeuvinR Ben YaouA BolandJ DeleuzeT MaisonobeB Eymard et al.

Connecting muscle and matrix : clinical and molecular characterization of six new families with myopathic Ehlers-Danlos syndrome

Tibbe DhoogeSarah DelbaereDelfien SyxSofie SymoensFransiska Malfait

Connecting muscle and matrix in myopathic Ehlers-Danlos syndrome : clinical and molecular characterization of six new families

Sarah DelbaereTibbe DhoogeDelfien SyxSofie SymoensFransiska Malfait

Delineation of a clinical scoring system and diagnostic criteria for CCA

Ilse MeerschautShana De ConinckAnnelies MatthysBjorn TuytensWouter SteyaertDaniël De WolfFrank PlasschaertPaul CouckeAnne De PaepeSofie Symoens et al.

Expanding the clinical and mutational spectrum of myopathic Ehlers-Danlos syndrome : five new families identified

Tibbe DhoogeSarah DelbaereDelfien SyxSofie SymoensFransiska Malfait

Fishing for the missing link : successful translation of a human disorder in zebrafish

Sarah DelbaereTim Van DammeDelfien SyxSofie SymoensAndy WillaertFransiska Malfait

Genetic analysis of osteogenesis imperfecta in the Palestinian population : molecular screening of 49 affected families

Osama EssawiSofie SymoensMaha FannanaMohammad DarwishMohammad FarrajAndy WillaertTamer EssawiBert CallewaertAnne De PaepeFransiska Malfait et al.

A1 Journal Article in MOLECULAR GENETICS & GENOMIC MEDICINE

Homozygosity for CREB3L1 premature stop codon in first case of recessive osteogenesis imperfecta associated with OASIS-deficiency to survive infancy

Katarina LindahlEva AstromAnca DragomirSofie SymoensPaul CouckeSune LarssonEleftherios PaschalisPaul RoschgerSonja GamsjaegerKlaus Klaushofer et al.

A1 Journal Article in BONE

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.

Knockdown and knockout zebrafish models for the β4GalT7-deficient type of Ehlers-Danlos syndrome reveal distinctive and overlapping phenotypic features

Sarah DelbaereTim Van DammeDelfien SyxSofie SymoensAndy WillaertFransiska Malfait

Knockdown and knockout zebrafish models for the β4GalT7-deficient type of Ehlers-Danlos syndrome reveal distinctive and overlapping phenotypic features

Sarah DelbaereTim Van DammeDelfien SyxSofie SymoensAndy WillaertFransiska Malfait

Myopathic Ehlers-Danlos syndrome : expanding the clinical and mutational spectrum with five new families

Tibbe DhoogeSarah DelbaereDelfien SyxSofie SymoensFransiska Malfait

Tailoring the American College of Medical Genetics and Genomics and the Association for Molecular Pathology guidelines for the interpretation of sequenced variants in the FBN1 gene for Marfan syndrome : proposal for a disease- and gene-specific guideline

Laura Muiño MosqueraFelke SteijnsTjorven AudenaertIlse MeerschautAnne De PaepeWouter SteyaertSofie SymoensPaul CouckeBert CallewaertMarjolijn Renard et al.

A1 Journal Article in CIRCULATION-GENOMIC AND PRECISION MEDICINE

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 modeling for spondylodysplastic Ehlers-Danlos syndrome, the B4GALT7 type : mimicking the human hypomorphic phenotype in a validated knock-down model

Sarah DelbaereTim Van DammeDelfien SyxPaul CouckeAnne De PaepeSofie SymoensAndy WillaertFransiska Malfait

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

Congenital contractural arachnodactyly : delineation of clinical criteria

Ilse MeerschautShana De ConinckWouter SteyaertS Garcia MinaurJC OosterwijkR IgbokweM SuriA BayatG JonesCI Dali et al.

Congenital contractural arachnodactyly : delineation of clinical criteria

Ilse MeerschautShana De ConinckWouter SteyaertS Garcia MinaurJC OosterwijkR IgbokweM SuriA BayatG JonesCI Dali et al.

Identification of a novel COL1A1 mutation associated with Caffey disease

Tibbe DhoogeDelfien SyxGeert MortierDagmar WieczorekSheila UngerAndreas ZanklToni HospachSofie SymoensFransiska Malfait

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

Tissue-specific mosaicism for a lethal osteogenesis imperfecta COL1A1 mutation causes mild OI/EDS overlap syndrome

Sofie SymoensWouter SteyaertLynn DemuynckAnne De PaepeKarin EM DiderichFransiska MalfaitPaul Coucke

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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.

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammePaul CouckeSofie SymoensDelfien SyxAndy WillaertFransiska Malfait

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammePaul CouckeSofie SymoensDelfien SyxAndy WillaertFransiska Malfait

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammePaul CouckeSofie SymoensAndy WillaertFransiska Malfait

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammePaul CouckeSofie SymoensDelfien SyxAndy WillaertFransiska Malfait

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammePaul CouckeSofie SymoensDelfien SyxAndy WillaertFransiska Malfait

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

Congenital contractural arachnodactyly

Ilse MeerschautShana De ConinckWouter SteyaertS Garcia MinaurJC OosterwijkR IgbokweM SuriA BayatG JonesCI Dali et al.

Congenital contractural arachnodactyly : delineation of clinical criteria

Ilse MeerschautShana De ConinckWouter SteyaertS Garcia MinaurJC OosterwijkR IgbokweM SuriA BayatG JonesCI Dali et al.

Differential expression of type III collagen in male and female mice

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

Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type

Tim Van DammeAlain ColigeDelfien SyxCecilia GiuntaUschi LindertMarianne RohrbachOmid AryaniYasemin AlanayPelin Özlem Simsek-KiperHester Y Kroes et al.

A1 Journal Article in GENETICS IN MEDICINE

Loss of type I collagen telopeptide lysyl hydroxylation causes musculoskeletal abnormalities in a zebrafish model of Bruck syndrome

Charlotte GistelinckPaul Eckhard WittenAnn HuysseuneSofie SymoensFransiska MalfaitDaria LarionovaPascal SimoensManuel DierickLuc Van HoorebekeAnne De Paepe et al.

A1 Journal Article in JOURNAL OF BONE AND MINERAL RESEARCH

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

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammeAndy WillaertSofie SymoensPaul CouckeFransiska Malfait

Zebrafish modeling of the β4GalT7-deficient type of Ehlers-Danlos syndrome

Sarah DelbaereTim Van DammeAndy WillaertSofie SymoensFransiska Malfait

2015

A zebrafish model for Bruck syndrome caused by PLOD2 mutations

Charlotte GistelinckAndy WillaertPascal SimoensSofie SymoensPaul Eckhard WittenAnn HuysseuneChristian VanhoveFransiska MalfaitAnne De PaepePaul Coucke

Altered cytoskeletal organization characterized lethal but not surviving Brtl(+/-) mice: insight on phenotypic variability in osteogenesis imperfecta

Laura BianchiAssunta GagliardiSilvia MaruelliRoberta BesioClaudia LandiRoberta GioiaKenneth M. KozloffBasma M. KhouryPaul CouckeSofie Symoens et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

Characterization of a col1a1a haploinsufficient zebrafish model for Osteogenesis Imperfecta type I

Pascal SimoensCharlotte GistelinckSofie SymoensChristian VanhoveFransiska MalfaitAnne De PaepePaul CouckeAndy Willaert

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

Ehlers-Danlos syndrome, hypermobility type, is linked to chromosome 8p22-8p21.1 in an extended Belgian family

Delfien SyxSofie SymoensWouter SteyaertAnne De PaepePaul CouckeFransiska Malfait

A1 Journal Article in DISEASE MARKERS

Gene panel sequencing in heritable thoracic aortic disorders and related entities: results of comprehensive testing in a cohort of 264 patients

Laurence CampensBert CallewaertLaura Muiño MosqueraMarjolijn RenardSofie SymoensAnne De PaepePaul CouckeJulie De Backer

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

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

Genetic heterogeneity and clinical variability in musculocontractural Ehlers–Danlos syndrome caused by impaired dermatan sulfate biosynthesis

Delfien SyxTim Van DammeSofie SymoensMerel C MaiburgIngrid van de LaarJenny MortonMohnish SuriMiguel Del CampoIngrid HausserTrinh Hermanns-Lê et al.

A1 Journal Article in HUMAN MUTATION

Genetics of the Ehlers-Danlos syndrome: more than collagen disorders

Tim Van DammeDelfien SyxPaul CouckeSofie SymoensAnne De PaepeFransiska Malfait

A1 Journal Article in EXPERT OPINION ON ORPHAN DRUGS

Recurrent de novo mutations affecting residue Arg138 of pyrroline-5-carboxylate synthase cause a progeroid form of autosomal-dominant cutis laxa

Björn Fischer-ZirnsakNathalie Escande-BeillardJaya GaneshYu Xuan TanMohammed Al BughailiAngela E LinInderneel SahaiPaulina BahenaSara L ReichertAbigail Loh et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Tissue specific mosaicism for a lethal COL1A1 mutation causes mild Ehlers-Danlos syndrome

Sofie SymoensWouter SteyaertLynn DemuynckFransiska MalfaitAnne De PaepeKarin EM DiderichPaul Coucke

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

A zebrafish model for Bruck Syndrome caused by PLOD2 mutations

Andy WillaertCharlotte GistelinckPascal SimoensSofie SymoensChristian VanhoveFransiska MalfaitAnne De PaepePaul Coucke

Characterization of a COL1A1A haploinsufficient zebrafish model for Osteogenesis Imperfecta type I

Charlotte GistelinckPascal SimoensSofie SymoensChristian VanhoveFransiska MalfaitAnne De PaepePaul CouckeAndy Willaert

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.

Low tendon stiffness and abnormal ultrastructure distinguish classic Ehlers-Danlos syndrome from benign joint hypermobility syndrome in patients

Rie Harbou NielsenChristian CouppéJacob Kildevang JensenMorten Raun OlsenKatja Maria HeinemeierFransiska MalfaitSofie SymoensAnne De PaepePeter SchjerlingStig Peter Magnusson et al.

A1 Journal Article in FASEB JOURNAL

Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene

Adeline JacquinetAlain VerloesBert CallewaertChristine CoremansPaul CouckeAnne De PaepeUwe KornakFrederic LebrunJacques LombetGérald E Piérard et al.

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Osteogenesis imperfecta: meer dan alleen collageen?

Michaël Vanden BulckeSofie SymoensFransiska MalfaitAnne De Paepe

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Type I procollagen C-propeptide defects: study of genotype-phenotype correlation and predictive role of crystal structure

Sofie SymoensDavid JS HulmesJean-Marie BourhisPaul CouckeAnne De PaepeFransiska Malfait

A1 Journal Article in HUMAN MUTATION

Ullrich congenital muscular dystrophy: a new cellular study on cultured skin fibroblasts

Nicolas DeconinckBoel De PaepeSofie SymoensArnaud VanlanderC GartiouxValerie AllamandJoél SmetBart DevreeseRudy Van Coster

2013

C-propeptide mutations in procollagen type I and V are associated with endoplasmic reticulum stress-specific unfolded protein responses

Sanne D'hondtSofie SymoensSophie JanssensAnne De PaepeMathieu BertrandFransiska Malfait

Clinical utility gene card for: osteogenesis imperfecta

Fleur van DijkRaymond DalgleishFransiska MalfaitAlessandra MaugeriAgnieszka RusinskaOliver SemlerSofie SymoensGerard Pals

Editorial material

Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa

Bert CallewaertChi-Ting SuTim Van DammePhilip VlummensFransiska MalfaitOlivier VanakkerBianca SchulzMeghan Mac NealElaine C DavisJoseph GH Lee et al.

A1 Journal Article in HUMAN MUTATION

Copper deficiency in patients with cystinosis with cysteamine toxity

Martine T BesouwJerry SchneiderMirian C JanssenMarcella GrecoFrancesco EmmaElisabeth A CornelissenKoen DesmetFlemming SkovbyFrançois NobiliMarc R Lillen et al.

A1 Journal Article in JOURNAL OF PEDIATRICS

Defective initiation of glycosaminoglycan synthesis due to B3GALT6 mutations causes a pleiotropic Ehlers-Danlos-syndrome-like connective tissue disorder

Fransiska MalfaitAriana KariminejadTim Van DammeCaroline GaucheDelfien SyxFaten Merhi-SoussiSandrine GulbertiSofie SymoensSuzanne VanhauwaertAndy Willaert et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans

Sofie SymoensFransiska MalfaitSanne D'hondtBert CallewaertAnnelies DheedeneWouter SteyaertHans Peter BächingerAnne De PaepeHulya KayseriliPaul Coucke

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Dermatosparaxis (Ehlers–Danlos type VIIC): prenatal diagnosis following a previous pregnancy with unexpected skull fractures at delivery

Joyce SolomonsPaul CouckeSofie SymoensMarta C CohenF Michael PopeBart E WagnerGlenda SobeyRebecca BlackDeirdre Cilliers

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome

Fransiska MalfaitSofie SymoensNathalie GoemansYolanda GyftodimouEva HolmbergVanesa Lopez-GonzalezGeert MortierSheela NampoothiriMichael Bjorn PetersenAnne De Paepe

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Sequence alterations in the carboxyl-terminal propeptide domain

Fransiska MalfaitSofie SymoensAnne De Paepe

Bookchapter in Osteogenesis imperfecta : a translational approach to brittle bone disease

Whole exome sequencing is an efficient, sensitive and specific method of mutation detection in osteogenesis imperfecta and Marfan syndrome

Aideen M Mclnerney-LeoMhairi S MarshallBrooke GardinerPaul CouckeLut Van LaerBart L LoeysKim M SummersSofie SymoensJennifer A WestMalcolm J West et al.

A2 Journal Article in BONEKEY REPORTS

2012

Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria

Sofie SymoensDelfien SyxFransiska MalfaitBert CallewaertJulie De BackerOlivier VanakkerPaul CouckeAnne De Paepe

A1 Journal Article in HUMAN MUTATION

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.

EMQN best practice guidelines for the laboratory diagnosis of osteogenesis imperfecta

Fleur van DijkPeter ByersRaymond DalgleishFransiska MalfaitAlessandra MaugeriMarianne RohrbachSofie SymoensErik SistermansGerard Pals

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Study of the role of type V collagen in heritable connective tissue diseases

Sofie SymoensAnne De PaepePaul Coucke

Superior mesenteric artery aneurysm in a 9-year-old boy with classical Ehlers-Danlos syndrome

K de LeeuwJF GoorhuisIFJ TielliuSofie SymoensFransiska MalfaitAnne De PaepeJP van TintelenJBF Hulscher

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

2011

A novel splice variant in the N-propeptide of COL5A1 causes an EDS phenotype with severe Kyphoscoliosis and eye involvement

Sofie SymoensFransiska MalfaitPhilip VlummensTrinh Hermanns-LeDelfien SyxAnne De Paepe

A1 Journal Article in PLOS ONE

Identification of binding partners interacting with the α1-N-propeptide of type V collagen

Sofie SymoensMarjolijn RenardChristelle Bonod-BidaudDelfien SyxElisabeth VaganayFransiska MalfaitSylvie Ricard-BlumEfrat KesslerLut Van LaerPaul Coucke et al.

A1 Journal Article in BIOCHEMICAL JOURNAL

Mutations in FKBP10 cause recessive osteogenesis imperfecta and bruck syndrome

Brian P KelleyFransiska MalfaitLuisa BonafeDustin BaldridgeErica HomanSofie SymoensAndy WillaertNursel ElciogluLionel Van MaldergemChristine Verellen-Dumoulin et al.

A1 Journal Article in JOURNAL OF BONE AND MINERAL RESEARCH

Osteogenesis imperfecta: the audiologic phenotype lacks correlation with the genotype

Freya SwinnenPaul CouckeAnne De PaepeSofie SymoensFransiska MalfaitFilomena GentileLuca SangiorgiPatrizia D'EufemiaTon GarretsenCor Cremers et al.

Osteogenesis imperfecta: the audiological phenotype lacks correlation with the genotype

Freya SwinnenPaul CouckeAnne De PaepeSofie SymoensFransiska MalfaitFilomena V GentileLuca SangiorgiPatrizia D'EufemiaMauro CelliTon JTM Garretsen et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

2010

Musculocontractural ehlers-danlos syndrome (former EDS type VIB) and adducted thumb clubfoot syndrome (ATCS) represent a single clinical entity caused by mutations in the dermatan-4-sulfotransferase 1 encoding CHST14 gene

Fransiska MalfaitDelfien SyxPhilip VlummensSofie SymoensSheela NampoothiriTrinh Hermanns-LeLut Van LaerAnne De Paepe

A1 Journal Article in HUMAN MUTATION

Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome

Elke VerstraetenSofie SymoensMarjolijn RenardBert CallewaertK VandekerckhoveJulie De BackerFransiska MalfaitL MarksPaul CouckeAnne De Paepe et al.

A1 Journal Article in CLINICAL DYSMORPHOLOGY

2009

COL5A1 signal peptide mutations interfere with protein secretion and cause classic Ehlers-Danlos syndrome

Sofie SymoensFransiska MalfaitMarjolijn RenardJosette AndréIngrid HausserBart LoeysPaul CouckeAnne De Paepe

A1 Journal Article in HUMAN MUTATION

Recessive osteogenesis imperfecta caused by LEPRE1 mutations: clinical documentation and identification of the splice form responsible for prolyl 3-hydroxylation

Andy WillaertFransiska MalfaitSofie SymoensKris GevaertH. KayseriliA. MegarbaneGeert MortierJ. G. LeroyPaul CouckeAnne De Paepe

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

2008

A Hotspot Splicing Mutation in LEPREI Affects Prolyl 3-hydroxylation and Causes Recessive Osteogenesis Imperfecta

Andy WillaertSofie SymoensFransiska MalfaitKris GevaertPaul CouckeAnne De Paepe

A hotspot splicing mutation in LEPREI affects prolyl 3-hydroxylation and causes recessive osteogenesis imperfecta

Fransiska MalfaitAndy WillaertSofie SymoensPaul CouckeAnne De Paepe

2007

Consortium for osteogeneslis imperfecta mutations in the helical domain of type I collagen: Regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans

JC MARINIA FORLINOWA CABRALAM BARNESJD SAN ANTONIOS MILGROMJC HYLANDJ KORKKODJ PROCKOPAnne De Paepe et al.

A1 Journal Article in HUMAN MUTATION

Three arginine to cysteine substitutions 4 in the pro-alpha (I)-collagen chain cause Ehlers-Danlos syndrome with a propensity to arterial rupture in early adulthood

Fransiska MalfaitSofie SymoensJulie De BackerTrinh HERMANNS-LENatzi SAKALIHASANCharles M LAPIEREPaul CouckeAnne De Paepe

A1 Journal Article in HUMAN MUTATION

2006

A novel mutation in the vascular Ehlers-Danlos syndrome: a case presenting with colonic perforations

Billur DemirogullariRamazan KarabulutArzu DemirtolaBilge KarabulutHakki I GolCemalettin AybaySofie SymoensKaan SonmezCan A BasaklarNuri Kale

A1 Journal Article in JOURNAL OF PEDIATRIC SURGERY

EDS/OI caused by collagen type I mutations

Fransiska MalfaitSofie SymoensYves Vander HaeghenJean NaeyaertN GoemansE HolmbergM PetersenPaul CouckeAnne De Paepe

Total absence of the alpha 2(I) chain of collagen type I causes a rare form of Ehlers-Danlos syndrome with hypermobility and propensity to cardiac valvular problems

Fransiska MalfaitSofie SymoensPaul CouckeL NunesS De AlmeidaAnne De Paepe

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

2005

A novel mutation in the lysyl hydroxylase 1 gene causes decreased lysyl hydroxylase activity in an Ehlers-Danlos VIA patient

LC WALKERMA OVERSTREETA SIDDIQUIAnne De PaepeG CEYLANERFransiska MalfaitSofie SymoensP ATSAWASUWANM YAMAUCHIS CEYLANER et al.

A1 Journal Article in JOURNAL OF INVESTIGATIVE DERMATOLOGY

The molecular basis of classic Ehlers-Danlos syndrome: A comprehensive study of biochemical and molecular findings in 48 unrelated patients

Fransiska MalfaitPaul CouckeSofie SymoensBart LoeysLieve NuytinckAnne De Paepe

A1 Journal Article in HUMAN MUTATION

2004

Met > Val substitution in a highly conserved region of the pro-alpha 1(I) collagen C-propeptide domain causes alternative splicing and a mild EDS/OI phenotype

Sofie SymoensLieve NuytinckE LEGIUSFransiska MalfaitPaul CouckeAnne De Paepe

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

2002

A non-glycine mutation in the C-propeptide of the alpha1(I) collagen chain causes mild Osteogenesis imperfecta and EDS-like features

Sofie SymoensLieve NuytinckPaul CouckeBart LoeysE LegiusAnne De Paepe