Research Explorer

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Researcher

Bert Callewaert

Publications & Research Data

Awards & Distinctions

297 Results

2026

Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratoderma

Vanya S.V.J. RosselJaap J.A.J. van der VeldenRenske JanssenBert CallewaertAude BeyensFanny Morice-PicarMaaike VreeburgPeter C. van den AkkerSaskia M. MaasGilles F.H. Diercks et al.

A1 Journal Article in JOURNAL OF DERMATOLOGICAL SCIENCE

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.

Neurocutaneous disorders due to mitochondrial proline synthesis defects

Björn Fischer-ZirnsakBert CallewaertThatjana GardeitchikUwe Kornak

2025

Arterial Tortuosity Syndrome: A Longitudinal Assessment of Cardiovascular Features and Interventions From the Collaborative for Longitudinal Aortic Research in the Young (CLARITY)

Bita SalamatSara B. StephensJolie J. BrittTaylor Beecroft-DawsonAndrea TaylorLaura Muino MosqueraBert CallewaertAude BeyensAlexandra ChanningMichael P. Dilorenzo et al.

U Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics

Christopher C. Y. MakHannah KlinkhammerSanaa ChoufaniNikola RekoAngela K. ChristmanElise PisanMartin M. C. ChuiMianne LeeFiona LeducJennifer C. Dempsey et al.

A1 Journal Article in EBIOMEDICINE

Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics

Christopher C. Y. MakHannah KlinkhammerSanaa ChoufaniNikola RekoAngela K. ChristmanElise PisanMartin M. C. ChuiMianne LeeFiona LeducJennifer C. Dempsey et al.

U Journal Article in EBIOMEDICINE

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

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

Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci

Mathis HildonenAndrea CiolfiMarco FerilliCamilla CappellettiAl Alam ChadiDavid AmorTahsin Stefan BarakatValerie BenoitOhad BirkBert Callewaert et al.

Case report : recurrent catatonia in a patient with 17p13.3 microduplication syndrome

Ilya QuerterNika SchuermansNele Van de VeldeCisse GeleynAnnelies DheedeneKurt AudenaertChris BaekenBert CallewaertGilbert Lemmens

A1 Journal Article in FRONTIERS IN PSYCHIATRY

Clinical Validity of Autosomal Dominant ALPK3 Loss-of-Function Variants as a Cause of Hypertrophic Cardiomyopathy

Sophie HespeEmma S. SingerChloe ReuterBrittney MurrayElizabeth JordanJessica ChownsStacey PetersMegan MayersBelinda GrayRay E. Hershberger et al.

U Journal Article in CIRCULATION-GENOMIC AND PRECISION MEDICINE

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

Deciphering neurodevelopmental disorders : the role of Zinc Finger Homeobox genes

Maria del Rocio Pérez BacaSarah VergultBert CallewaertBjörn Menten

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

A1 Journal Article in BMC MEDICAL GENOMICS

Filamin C associated cardiomyopathy in pediatric patients : a Belgian case series and literature review

Wannes RendersEvelien CansseLuc BruyndonckxThomas SalaetsBert CallewaertKatya De GrooteLaura Muiño Mosquera

Foveal hypoplasia in Myhre syndrome: a novel association

Helena Van HaeckeEva VanbelleghemElke O. KrepsBert Callewaert

U Journal Article in OPHTHALMIC GENETICS

Genes associated with hypertrophic cardiomyopathy : a reappraisal by the ClinGen Hereditary Cardiovascular Disease Gene Curation Expert Panel

Sophie HespeAmber WaddellBabken AsatryanEmma OwensCourtney ThaxtonMhy-Lanie AdduruKailyn AndersonEmily E. BrownLily Hoffman-AndrewsElizabeth Jordan et al.

A1 Journal Article in JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Genetic background of patients with childhood-onset cardiomyopathy : results from a retrospective cohort study

Wannes RendersEvelien CansseMax BascialliJoseph PanzerHans De WildeKristof VandekerckhoveBert CallewaertArnaud VanlanderKatya De GrooteDaniël De Wolf et al.

Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease

Dimuthu AlankarageIryna LeshchynskaStephanie PortelliAlena SipkaGillian M. BlueVictoria O’ReillyDebjani DasEmma M. RathAnnabelle EnriquezMichael Troup et al.

A2 Journal Article in HUMAN GENETICS AND GENOMICS ADVANCES

Heterochronic HOXD13 activation due to 2q31.1 microdeletion results in isolated forearm mesomelic dysplasia

Eva D'haeneRaquel RoucoMarlies ColmanMachteld BaetensLies VantommeOlivier VanakkerBert CallewaertFransiska MalfaitGuillaume AndreyDelfien Syx et al.

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

Pascale SabehSamantha A. DumasClaudia MaiosHiba DagharMarek KorzeniowskiJustine RousseauMatthew LinesAndrea GuerinJohn J. MillichapMegan Landsverk et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Investigating aortic pathology and optimizing precision gene editing in Zebrafish : roles of SMAD3, SMAD6, and GLUT10

Michiel VanhooydonckBert CallewaertPatrick SipsAndy Willaert

Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder

Maria del Rocio Pérez BacaMaría Palomares-BraloMichiel VanhooydonckLisa HamerlinckEva D'haeneSebastian LeimbacherEva JacobsLaurenz De CockErika D'haenensAnnelies Dheedene et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Non-coding structural variants disrupt a critical regulatory region steering FOXG1 transcription during early neurodevelopment

Eva D'haeneLisa HamerlinckNore Van LoonMichael B VaughanMaria del Rocio Pérez BacaSebastian LeimbacherLara ColomboLies VantommeEsperanza DaalAnnelies Dheedene et al.

Non-coding structural variants disrupt regulatory elements steering FOXG1 transcription in early neurodevelopment

Lisa HamerlinckEva D'haeneNore Van LoonMichael B VaughanMaria del Rocio Pérez BacaLara ColomboSebastian LeimbacherEsperanza DaalLies VantommeAnnelies Dheedene et al.

Non-coding structural variants disrupt regulatory elements steering FOXG1 transcription in early neurodevelopment (Award Candidate)

Lisa HamerlinckEva D'haeneNore Van LoonMichael B VaughanMaria del Rocio Pérez BacaLara ColomboSebastian LeimbacherLies VantommeEsperanza DaalAnnelies Dheedene et al.

Non-coding structural variants identify a commonly affected regulatory region steering FOXG1 transcription in early neurodevelopment

Eva D'haeneLisa HamerlinckNore Van LoonMichael B VaughanMaria del Rocio Pérez BacaSebastian LeimbacherLara ColomboLies VantommeEsperanza DaalAnnelies Dheedene et al.

Non-coding structural variants identify a commonly affected regulatory region steering FOXG1 transcription in early neurodevelopment

Lisa HamerlinckEva D'haeneNore Van LoonMichael B VaughanMaria del Rocio Pérez BacaLara ColomboSebastian LeimbacherEsperanza DaalLies VantommeAnnelies Dheedene et al.

Non-coding structural variants identify a commonly affected regulatory region steering FOXG1 transcription in early neurodevelopment

Lisa HamerlinckEva D'haeneNore Van LoonMichael B VaughanMaria del Rocio Pérez BacaSebastian LeimbacherLara ColomboLies VantommeEsperanza DaalAnnelies Dheedene et al.

Ocular manifestations in congenital cutis laxa : a case series

Arnaud Van SlyckenAude BeyensBert CallewaertElke O. Kreps

A1 Journal Article in CORNEA

Prime editing outperforms homology-directed repair as a tool for CRISPR-mediated variant knock-in in zebrafish

Michiel VanhooydonckElyne De NeefHanna De SaffelAnnekatrien BoelAndy WillaertBert CallewaertKathleen Claes

Prime editing outperforms homology-directed repair as a tool for CRISPR-mediated variant knock-in in zebrafish

Michiel VanhooydonckElyne De NeefHanna De SaffelAnnekatrien BoelAndy WillaertBert CallewaertKathleen Claes

A1 Journal Article in LAB ANIMAL

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.

Shprintzen-Goldberg syndrome : follow-up of the cardiovascular features in an international cohort of 29 patients with SGS

Yordi-Michael BouhatousPauline ArnaudGuillaume JondeauDominique BonneauFrederic RouleauGhislaine PlessisAline VincentFabien LabombardaPascale MaragnesJulian Delanne et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Structural variants disrupt a critical regulatory region downstream of FOXG1

Lisa HamerlinckEva D'haeneNore Van LoonMichael B VaughanMaria del Rocio Pérez BacaLara ColomboSebastian LeimbacherLies VantommeAnnelies DheedeneBjörn Menten et al.

Structural variants disrupt a critical regulatory region downstream of FOXG1

Lisa HamerlinckEva D'haeneNore Van LoonMichael B VaughanMaria del Rocio Pérez BacaLara ColomboSebastian LeimbacherEsperanza DaalLies VantommeAnnelies Dheedene et al.

Study of monogenic cutis laxa syndromes : paradigms for elastic fiber homeostasis

Aude BeyensBert CallewaertSofie De Schepper

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

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

Unraveling the genetic landscape of foot arch morphology : a systematic review of single nucleotide polymorphisms

Yukun HeMarlies VerleyenBert CallewaertArne BurssensEmmanuel Audenaert

A1 Journal Article in CLINICAL GENETICS

Upregulation versus loss of function of NTRK2 in 44 affected individuals leads to 2 distinct neurodevelopmental disorders

Eva BergerRobin-Tobias JaussJudith D. RanellsEmir ZonicLydia von WintzingerodeAshley WilsonJohannes WagnerAnnabelle TuttleAmanda Thomas-WilsonBjörn Schulte et al.

A1 Journal Article in GENETICS IN MEDICINE

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

A genotype/phenotype study of KDM5B-associated disorders suggests a pathogenic effect of dominantly inherited missense variants

Maria Carla BorrotoCoralie MichaudChloé HudonPankaj B. AgrawalKatherine AgreCarolyn D. ApplegateAlan H. BeggsHans T. BjornssonBert CallewaertMei-Jan Chen et al.

A1 Journal Article in GENES

A systematic review and cross-database analysis of single nucleotide polymorphisms underlying hip morphology and osteoarthritis reveals shared mechanisms

Marlies VerleyenYukun HeArne BurssensMarta Guerreiro Santana Ramos Da SilvaBert CallewaertEmmanuel Audenaert

A1 Journal Article in OSTEOARTHRITIS AND CARTILAGE

Advances in CRISPR-mediated knock-in of disease- and cancer-related variants in zebrafish

Elyne De NeefMichiel VanhooydonckHanna De SaffelBéatrice LintermansAndy WillaertBert CallewaertAnne VralKathleen Claes

Advances in CRISPR-mediated knock-in of disease-related variants in zebrafish

Elyne De NeefMichiel VanhooydonckHanna De SaffelBéatrice LintermansAndy WillaertBert CallewaertAnne VralKathleen Claes

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

ClinGen Hereditary hereditary cardiovascular disease gene curation expert panel : reappraisal of genes associated with hypertrophic cardiomyopathy

Sophie HespeAmber WaddellBabken AsatryanEmma OwensCourtney ThaxtonMhy-lanie AdduruKailyn AndersonEmily BrownLily Hoffman-AndrewsElizabeth Jordan et al.

Clinical impact of RNA-sequencing in diagnostics

Laurenz De CockErika D'haenensSarah VergultLies VantommeAnnelies DheedeneRobin de PutterTim Van DammeJo SourbronBert CallewaertOlivier Vanakker et al.

De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity

Marine TessarechGaëlle FriocourtFlorent MarguetMaryline LecointreMorgane Le MaoRodrigo Muñoz DíazCyril MignotBoris KerenBénédicte HéronCharlotte De Bie et al.

A1 Journal Article in GENETICS IN MEDICINE

Diagnostic efficiency of clinical exome sequencing in fetuses with congenital anomalies

Candy KumpsMachteld BaetensSofie SymoensEllen RoetsNOORTJE VAN OOSTRUMOlivier VanakkerBert CallewaertBjörn MentenSandra Janssens

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.

Familial chylomicronemia syndrome : a novel mutation in the lipoprotein lipase gene

Stephanie Van BiervlietSaskia Vande VeldePauline De BruyneBert CallewaertPATRICK VERLOORuth De Bruyne

A1 Journal Article in ACTA GASTRO-ENTEROLOGICA BELGICA

Full characterization of unresolved structural variation through long-read sequencing and optical genome mapping

Griet De ClercqLies VantommeBarbara DewaeleBert CallewaertOlivier VanakkerSandra JanssensBart LoeysMojca StrazisarWouter De CosterJoris Robert Vermeesch et al.

A1 Journal Article in SCIENTIFIC REPORTS

Further delineation of the rare GDACCF (global developmental delay, absent or hypoplastic corpus callosum, dysmorphic facies syndrome) : genotype and phenotype of 22 patients with ZNF148 mutations

Katalin SzakszonCharles Marques LourencoBert CallewaertDavid GenevieveFlavien RouxelDenis MorinAnne-Sophie Denomme-PichonAntonio VitobelloWesley PattersonRaymond Louie et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability

Maria del Rocio Pérez BacaEva JacobsLies VantommePontus LeBlancElke BogaertAnnelies DheedeneLaurenz De CockSadegheh HaghshenasAidin ForoutanMichael A Levy et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Interpretation and classification of FBN1 variants associated with Marfan syndrome : consensus recommendations from the Clinical Genome Resource’s FBN1 variant curation expert panel

A. DrackleyC. SomervilleP. ArnaudL. M. BaudhuinN. HannaM. L. KlugeK. KotzerC. BoileauL. BronickiBert Callewaert et al.

A1 Journal Article in GENOME MEDICINE

Knock-in of disease-related variants in the zebrafish model organism

Michiel VanhooydonckElyne De NeefHanna De SaffelAnnekatrien BoelKathleen ClaesAndy WillaertBert Callewaert

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene causes a novel neurodevelopmental disorder

Maria del Rocio Pérez BacaMaria PalomaresMichiel VanhooydonckEva D'haeneEva Z. JacobsLies VantommeFernando Santos-SimarroRoser Lleuger-PujolSixto García-MiñaúrItsaso Losantos-García et al.

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene causes a novel neurodevelopmental disorder

Maria del Rocio Pérez BacaMaria PalomaresMichiel VanhooydonckEva D'haeneEva JacobsLies VantommeFernando Santos-SimarroRoser Lleuger-PujolSixto García-MiñáurItsaso Losantos-García et al.

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder

Maria del Rocio Pérez BacaMaria Palomares BraloMichiel VanhooydonckLisa HamerlinckEva D'haeneSebastian LeimbacherEva JacobsLaurenz De CockErika D'haenensZoë Malfait et al.

Loss-of-function of the Zinc Finger Homeobox 4 (ZFHX4) gene underlies a neurodevelopmental disorder

Maria del Rocio Pérez BacaMaría Palomares BraloMichiel VanhooydonckLisa HamerlinckEva D'haeneSebastian LeimbacherEva JacobsLaurenz De CockErika D'haenensAnnelies Dheedene et al.

Mitral annular disjunction in heritable thoracic aortic disease : insights from the Montalcino Aortic Consortium

Kishan L AsokanJennifer R LandesWannes RendersLaura Muiño MosqueraJulie De BackerDavid W JantzenAnji T YetmanGisela Teixido-TuraArturo EvangelistaRichmond Jeremy et al.

A1 Journal Article in JOURNAL OF THE AMERICAN HEART ASSOCIATION

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

New insights into the structural role of EMILINs within the human skin microenvironment

Alvise SchiavinatoFady MarcousAlexandra V. ZukDouglas R. KeeneSara F. TufaLaura Muiño MosqueraPaola ZigrinoCornelia MauchBeate EckesKatrien Francois et al.

A1 Journal Article in SCIENTIFIC REPORTS

Prime editing outperforms optimized homology-directed repair as a tool for knock-in generation in zebrafish

Elyne De NeefMichiel VanhooydonckKathleen ClaesBert CallewaertHanna De SaffelBéatrice LintermansAndy WillaertAnne Vral

Prime editing outperforms optimized homology-directed repair as a tool for knock-in generation in zebrafish

Elyne De NeefMichiel VanhooydonckHanna De SaffelAnne VralAndy WillaertBert CallewaertKathleen Claes

SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome

Aamuktha R. KarlaAmelie PinardMaura L. BoerioDimitri HemelsoetSimon TavernierMichel De PauwElke VereeckeStuart FraserMichael J. BamshadDongchuan Guo et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Structural variants disrupt a critical regulatory region downstream of FOXG1

Lisa HamerlinckEva D'haeneNore Van LoonMichael B VaughanMaria del Rocio Pérez BacaLara ColomboSebastian LeimbacherEsperanza DaalLies VantommeBjörn Menten et al.

Structural variants disrupt a critical regulatory region downstream of FOXG1

Lisa HamerlinckEva D'haeneNore Van LoonMaria del Rocio Pérez BacaSarah VergultBert CallewaertElfride De BaereBjörn MentenLies VantommeMichael B Vaughan

2023

A novel neurodevelopmental syndrome caused by lossof-function of the Zinc Finger Homeobox 3 (ZFHX3) gene

Maria del Rocio Perez BacaEva Z. JacobsLies VantommePontus LeBlancElke BogaertAnnelies DheedeneLaurenz De CockBart DermautAidin ForoutanJennifer Kerkhof et al.

U Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

A novel neurodevelopmental syndrome caused by lossof-function of the Zinc Finger Homeobox 3 (ZFHX3) gene

Maria del Rocio Pérez BacaEva Z. JacobsLies VantommePontus LeBlancElke BogaertAnnelies DheedeneLaurenz De CockBart DermautAidin ForoutanJennifer Kerkhof et al.

ATP7A-related copper transport disorders : a systematic review and definition of the clinical subtypes

Silke De FeyterAude BeyensBert Callewaert

A1 Journal Article in JOURNAL OF INHERITED METABOLIC DISEASE

Beyond gene-disease validity : capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions

Katherine S. JosephsAngharad M. RobertsPantazis TheotokisRoddy WalshPhilip J. OstrowskiMatthew EdwardsAndrew FlemingCourtney ThaxtonJason D. RobertsMelanie Care et al.

A1 Journal Article in GENOME MEDICINE

HRAS-related epidermal nevus syndromes : expansion of the spectrum with first branchial arch defects

Aude BeyensCharlotte LietaerKathleen ClaesElfride De BaereMarleen GoeteynBob LerutHannes SyrynOlivier VanakkerJoni Van der MeulenLieve Vanwalleghem et al.

A1 Journal Article in CLINICAL GENETICS

Inherited pathogenic variants in neurodevelopmental disorders : a potential pitfall in triobased analysis of clinical exomes

Annelies DheedeneErika D'haenensEvelien PouillieSarah DelbaereOlivier VanakkerBert CallewaertBjörn Menten

Jansen-de Vries syndrome : expansion of the PPM1D clinical and phenotypic spectrum in 34 families

Monica H. WojcikSiddharth SrivastavaPankaj B. AgrawalTugce B. BalciBert CallewaertPier Luigi CalvoDiana CarliMichelle CaudleSamantha ColaiacovoLaura Cross et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Ligneous conjunctivitis mimicking preseptal cellulitis in a 3-month-old infant

Valentien MerlevedeVirginie NinclausDimitri RoelsLiesbeth HuysBert CallewaertElke O. Kreps

A1 Journal Article in OPHTHALMIC GENETICS

Long-read sequencing and optical genome mapping enable full characterization of previously unresolved structural variation

Griet De ClercqLies VantommeBert CallewaertSarah VergultWouter De CosterMojca StrazisarTim De PooterBarbara DewaeleJoris VermeeschAnnelies Dheedene et al.

Long-read sequencing and optical genome mapping enable full characterization of previously unresolved structural variation

Griet De ClercqLies VantommeBert CallewaertBarbara DewaeleJoris VermeeschAnnelies DheedeneBjörn Menten

Long-read sequencing enables full characterization of previously unresolved structural variation

Griet De ClercqLies VantommeBert CallewaertAnnelies DheedeneBjörn Menten

Long-read sequencing resolves (complex) cryptic structural variation in patients with syndromic intellectual disability

Griet De ClercqLies VantommeBert CallewaertSarah VergultAnnelies DheedeneBjörn Menten

Long-read sequencing resolves (complex) cryptic structural variation in patients with syndromic intellectual disability

Griet De ClercqLies VantommeBert CallewaertSarah VergultAnnelies DheedeneBjörn Menten

Long-read sequencing resolves (complex) cryptic structural variation in patients with syndromic intellectual disability

Griet De ClercqLies VantommeBert CallewaertSarah VergultAnnelies DheedeneBjörn Menten

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

Sarah E. SheppardLaura BryantRochelle N. WickramasekaraCourtney VaccaroBrynn RobertsonJodi HallgrenJason HulenCynthia J. WatsonVictor FaundesYannis Duffourd et al.

A1 Journal Article in SCIENCE ADVANCES

Structural variants disrupt a critical regulatory region downstream of FOXG1

Lisa HamerlinckEva D'haeneMichael B VaughanMaria del Rocio Pérez BacaNore Van LoonLies VantommeBjörn MentenBert CallewaertElfride De BaereSarah Vergult

Structural variants disrupt a critical regulatory region downstream of FOXG1

Lisa HamerlinckEva D'haeneSarah VergultNore Van LoonMaria del Rocio Pérez BacaLies VantommeMichael B VaughanElfride De BaereBert CallewaertBjörn Menten

Structural variants disrupt a critical regulatory region downstream of FOXG1

Eva D'haeneLies VantommeBjörn MentenBert CallewaertElfride De BaereSarah Vergult

Structural variants disrupt a critical regulatory region downstream of FOXG1

Lisa HamerlinckEva D'haeneMaria del Rocio Pérez BacaLies VantommeNore Van LoonBjörn MentenBert CallewaertElfride De BaereSarah Vergult

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 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.

Valuable insights after one year whole exome sequencing in a fetal/prenatal setting

Sarah DelbaereMachteld BaetensCandy KumpsEllen RoetsNoortje Van OostrumBert CallewaertSandra JanssensOlivier VanakkerBjörn Menten

2022

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene

Maria del Rocio Pérez BacaEva JacobsLies VantommePontus LeBlancElke BogaertAnnelies DheedeneLaurenz De CockBart DermautAidin ForoutanJennifer Kerkhof et al.

Apoptotic enteropathy, gluten intolerance, and IBD-like inflammation associated with lipotoxicity in DGAT1 deficiency–related diarrhea : a case report of a 17-year-old patient and literature review

Ellen DeoletBert CallewaertJeroen GeldofStephanie Van BiervlietSaskia Vande VeldeJo Van DorpeMyriam Van WinckelAnne Hoorens

A1 Journal Article in VIRCHOWS ARCHIV

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.

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

Maria B. ChristensenAmanda M. LevyNazanin A. MohammadiMarcello NicetaRauan KaiyrzhanovMaria Lisa DenticiChadi Al AlamViola AlesiValerie BenoitKailash P. Bhatia et al.

A1 Journal Article in CLINICAL GENETICS

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

Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects

Gerarda CappuccioNicola Brunetti‐PierriPaul CliftChristopher LearnJohn C. DykesCatherine L. MercerBert CallewaertIlse MeerschautAlessandro Mauro SpinelliIrene Bruno et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Expanding the phenotype of B3GALNT2-related disorders

Erika D'haenensSarah VergultBjörn MentenAnnelies DheedeneR. Frank KooyBert Callewaert

A1 Journal Article in GENES

Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings

Charlotte PickwickBert CallewaertFleur van DijkJuliette HarrisEmma WakelingEleanor HayMildrid YeoAnupam ChakrapaniJulia BaptistaSandra Moore et al.

A1 Journal Article in CLINICAL DYSMORPHOLOGY

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

Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases

Nancy VegasZeynep DemirChristopher T. GordonSylvain BretonVanessa L. Romanelli TavaresHugo MoissetRoseli Zechi‐CeideNancy M. Kokitsu‐NakataYasuhiro KidoSandrine Marlin et al.

A1 Journal Article in HUMAN MUTATION

Identification of codon 146 KRAS variants in isolated epidermal nevus and multiple lesions in oculoectodermal syndrome : confirmation of the phenotypic continuum of mosaic RASopathies

Aude BeyensLaure DequekerHilde BremsSandra JanssensHannes SyrynAnne D’HooghePascale De PaepeLieve VanwalleghemAnnelies StockmanElena Vankwikelberge et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Long-read sequencing resolves cryptic structural variation in patients with syndromic intellectual disability

Griet De ClercqLies VantommeBert CallewaertSarah VergultAnnelies DheedeneBjörn Menten

Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement

Lucia MicaleSilvia MorlinoAnnalucia CarboneAnnamaria CarissimoGrazia NardellaCarmela FuscoOrazio PalumboAnnalisa SchirizziFederica RussoGianluigi Mazzoccoli et al.

A1 Journal Article in GENETICS IN MEDICINE

LTBP1 promotes fibrillin incorporation into the extracellular matrix

Matthias PrzyklenkVeronika S. GeorgievaFabian MetzenSebastian MostertBirgit KobbeBert CallewaertGerhard SengleBent BrachvogelRobert P. MechamMats Paulsson et al.

A1 Journal Article in MATRIX BIOLOGY

LTBP4-related cutis laxa

Bert CallewaertZsolt Urban

Bookchapter in Gene reviews

Major response to adalimumab in patient with Sweet syndrome associated to an acquired cutis laxa

Pieter RosiersA. DerouxAude BeyensBert CallewaertM.‐T. Leccia

A1 Journal Article in JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY

MYT1L-associated neurodevelopmental disorder : description of 40 new cases and literature review of clinical and molecular aspects

Juliette CoursimaultAnne-Marie GuerrotMichelle M. MorrowCatherine SchrammFrancisca Millan ZamoraAnita ShanmughamShuxi LiuFanggeng ZouFrederic BilanGwenael Le Guyader et al.

A1 Journal Article in HUMAN GENETICS

Phenotypic and molecular heterogeneity in mandibulofacial dysostoses : a case series from India

Rathika D. ShenoyVikram ShettyAnnelies DheedeneBjörn MentenDechamma Pandyanda NanjappaGunimala ChakrabortyPatrick SipsAnne De PaepeBert CallewaertAnirban Chakraborty

A1 Journal Article in CLEFT PALATE-CRANIOFACIAL JOURNAL

Regulatory landscaping : towards improved genetic diagnosis and therapy for SATB2-associated syndrome

Lisa HamerlinckLies VantommeEva D'haeneSarah VergultBert Callewaert

Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)

Nika SchuermansDimitri HemelsoetWim TerrynSanne SteyaertRudy Van CosterPaul CouckeWouter SteyaertBert CallewaertElke BogaertPATRICK VERLOO et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Reem Al-JawahiriAidin ForoutanJennifer KerkhofHaley McConkeyMichael LevySadegheh HaghshenasKathleen RooneyJasmin TurnerDebbie ShearsMuriel Holder et al.

A1 Journal Article in GENETICS IN MEDICINE

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.

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.

Transglutaminase mediated asprosin oligomerization allows its tissue storage as fibers

Yousef AT MorcosGalyna PryymachukSteffen LuetkeAntje GerkenAlan R. F. GodwinThomas A. JowittNadin PiekarekThorben HoffmannAnja NiefhoffMargarete Odenthal et al.

Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes

Marcello ScalaMasashi NishikawaHidenori ItoHidenori TabataTayyaba KhanAndrea AccogliLaura DavidsAnna RuizPietro ChiurazziGabriella Cericola et al.

A1 Journal Article in BRAIN

2021

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 gene (ZFHX3)

Maria del Rocio Pérez BacaEva JacobsLies VantommeMareike BauerMelissa BelliniClaire BeneteauNatasha BrownDavid ComanLaurenz De CockAnnelies Dheedene et al.

A reassessment of copy number variations in congenital heart defects : picturing the whole genome

Ilse MeerschautSarah VergultAnnelies DheedeneBjörn MentenKatya De GrooteHans De WildeLaura Muiño MosqueraJoseph PanzerKristof VandekerckhovePaul Coucke et al.

A1 Journal Article in GENES

Arterial tortuosity syndrome : an ascorbate compartmentalization disorder?

Annekatrien BoelKrisztina VeszelyiCsilla E. NemethAude BeyensAndy WillaertPaul CouckeBert CallewaertEva Margittai

A1 Journal Article in ANTIOXIDANTS & REDOX SIGNALING

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

Clinical characteristics of Galloway-Mowat syndrome and mutations in the TPRKB gene

Lieselot PeremansBert CallewaertAnn RaesJohan Vande WalleJo DehoorneLien DosscheEvelien Snauwaertagnieszka Prytula

CRISPR-ing the gap between discovery and validation of candidate genes for neurodevelopmental disorders

Eva JacobsSarah VergultBert CallewaertBjörn Menten

Cutis laxa : a comprehensive overview of clinical characteristics and pathophysiology

Aude BeyensAnnekatrien BoelSofie SymoensBert Callewaert

A1 Journal Article in CLINICAL GENETICS

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Theresa BrunetKirsty McWalterKatharina MayerhanserGrace M. AnboubaAmy Armstrong-JavorsIngrid BaderEvan BaughAmber BegtrupCaleb P. BuppBert Callewaert et al.

A1 Journal Article in GENETICS IN MEDICINE

Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A

Alice LepelleyErika Della MinaErika Van NieuwenhoveLise WaumansSylvie FraitagGillian I. RiceAshish DhirMarie-Louise FremondMathieu P. RoderoLuis Seabra et al.

A1 Journal Article in JOURNAL OF EXPERIMENTAL MEDICINE

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants

Eva JacobsKathleen BrownMelissa C. BylerErika D'haenensAnnelies DheedeneLindsay B. HendersonJennifer B. HumbersonRichard H. JaarsveldFarah KananiRobert Roger Lebel et al.

A1 Journal Article in CLINICAL GENETICS

Expanding the phenotypic and molecular landscape of syndromic and isolated congenital heart defects : a future for phenotype-first and genotype-first approaches

Ilse MeerschautBert CallewaertDaniël De Wolf

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

IQSEC2 disorder : a new disease entity or a Rett spectrum continuum?

Diego LopergoloFlavia PriviteraGiuseppe CastelloCaterina Lo RizzoMaria Antonietta MencarelliAnna Maria PintoFrancesca ArianiAurora CurròVittoria LamacchiaRoberto Canitano et al.

A1 Journal Article in CLINICAL GENETICS

Isolated forearm mesomelic dysplasia caused by a genomic deletion encompassing the 2q31.1 HOXD gene cluster

Marlies ColmanMachteld BaetensOlivier VanakkerBert CallewaertDelfien SyxFransiska Malfait

Lack of resemblance between Myhre syndrome and other 'segmental progeroid' syndromes warrants restraint in applying this classification

Angela E. LinNicola Brunetti-PierriBert CallewaertValerie Cormier-DaireSofia DouzgouT. Bernard KinaneMark E. LindsayLois J. Starr

A1 Journal Article in GEROSCIENCE

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

Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome

Dong LiMichael E. MarchPaola FortugnoLiza L. CoxLeticia S. MatsuokaRosanna MonettaChristoph SeilerLouise C. PyleEmma C. BedoukianMaría José Sánchez-Soler et al.

A1 Journal Article in HUMAN GENETICS

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Madelyn A. GillentineTianyun WangKendra HoekzemaJill RosenfeldPengfei LiuHui GuoChang N. KimBert B. A. De VriesLisenka E. L. M. VissersMagnus Nordenskjold et al.

A1 Journal Article in GENOME MEDICINE

Severe congenital cutis laxa : Identification of novel homozygous LOX gene variants in two families

Fiona McKenzieKym MinaBert CallewaertAude BeyensJan E. DickinsonGareth JevonJohn PapadimitriouBirgitte Rode DinessJesper Norman SteensbergJakob Ek et al.

A1 Journal Article in CLINICAL GENETICS

Structural variants disrupt a critical regulatory region downstream of FOXG1

Eva D'haeneLies VantommeBjörn MentenBert CallewaertElfride De BaereSarah Vergult

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

ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder

Stephanie OatesMichael AbsoudSushma GoyalSophie BayleyJennifer BaulcombAnnemarie SimsAmy RiddettKatrina AllisCharlotte Brasch-AndersenMeena Balasubramanian 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

Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)

Gabriella VeraArthur SorlinGeoffroy DelplancqFrançois LecoquierreMarie Brasseur-DaudruyFlorence PetitThomas SmolAlban ZieglerDominique BonneauEstelle Colin et al.

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer

Kezhi YanJustine RousseauKeren MacholLaura A. CrossKatherine E. AgreCynthia Forster GibsonAnne GoverdeKendra L. EnglemanHannah VerdinElfride De Baere et al.

A1 Journal Article in SCIENCE ADVANCES

Disproportion and dysmorphism in an adult Belgian population with Turner syndrome : risk factors for chronic diseases?

An-Sofie Van de KelftCharlotte LievensKatya De GrooteLAURENT DEMULIERJulie De BackerGuy T'SjoenMargarita CraenBert CallewaertJean De Schepper

A1 Journal Article in ACTA CLINICA BELGICA

Genetics in congenital heart disease : are we ready for it?

Julie De BackerBert CallewaertLaura Muiño Mosquera

A2 Journal Article in REVISTA ESPAÑOLA DE CARDIOLOGÍA (ENGLISH ED.)

Genética en la cardiopatía congénita : ¿estamos preparados?

Julie De BackerBert CallewaertLaura Muiño Mosquera

A1 Journal Article in REVISTA ESPANOLA DE CARDIOLOGIA

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.

Lessons learned from 40 novel PIGA patients and a review of the literature

Allan BayatAlexej KnausManuela PendziwiatAlexandra AfenjarTahsin Stefan BarakatFriedrich BoschBert CallewaertPatrick CalvasBerten CeulemansNicolas Chassaing et al.

A1 Journal Article in EPILEPSIA

Mowat-Wilson syndrome : growth charts

Ivan IvanovskiOlivera DjuricSerena BroccoliStefano Giuseppe CaraffiPatrizia AccorsiMargaret P. AdamKristina AvelaMagdalena Badura-StronkaAllan BayatJill Clayton-Smith et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

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.

Mutations in LTBP1 cause autosomal recessive cutis laxa syndrome

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

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 defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa

Miski MohamedThatjana GardeitchikShanti BalasubramaniamSergio Guerrero‐CastilloDaisy DalloyauxSanne KraaijHanka VenselaarAlexander HoischenZsolt UrbanUlrich Brandt et al.

A1 Journal Article in JOURNAL OF INHERITED METABOLIC DISEASE

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome

Viviana CordedduErica L. MackeFrancesca Clementina RadioStefania Lo CiceroFrancesca PantaleoniMassimo TattiEmanuele BellacchioAndrea CiolfiEmanuele AgoliniAlessandro Bruselles et al.

A1 Journal Article in CLINICAL GENETICS

Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects

Annekatrien BoelJoyce BurgerMarine VanhomwegenAude BeyensMarjolijn RenardSander BarnhoornChristophe CasteleynDieter ReinhardtBenedicte DescampsChristian Vanhove et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

ZMYND11-related syndromic intellectual disability : 16 patients delineating and expanding the phenotypic spectrum

Thabo M. YatesMorgan DruckerAngela BarnicoatKaren LowErica H. GerkesAndrew E. FryMichael J. ParkerMary O'DriscollPerrine CharlesHelen Cox et al.

A1 Journal Article in HUMAN MUTATION

2019

A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 gene (ZFHX3)

Eva JacobsSarah VergultMaria Palomares BraroSixto Garcia-MinaurS. Simmaro FernandoT. Duelund HjortshøjM. GérardA. MolinP. Villavicencio-LoriniJ. Köhlhase et al.

Arterial tortuosity syndrome : 40 new families and literature review (vol 20, pg 1236, 2017)

Aude BeyensJuliette AlbuissonAnnekatrien BoelMazen Al-EssaWaheed Al-ManeaDamien BonnetOzlem BostanOdile BouteTiffany BusaNathalie Canham et al.

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

De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism

Illja J DietsRoos van der DonkKristina BaltrunaiteEsmé WaandersMargot RF ReijndersAlexander JM DingemansRolph PfundtAnneke T Vulto-van SilfhoutLaurens WielChristian Gilissen et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Gregory CostainBert CallewaertHeinz GabrielTiong Y TanSusan WalkerJohn ChristodoulouTamas LazarBjörn MentenJulia OrkinSimon Sadedin et al.

A1 Journal Article in GENETICS IN MEDICINE

Decreased nuclear ascorbate accumulation accompanied with altered genomic methylation pattern in fibroblasts from arterial tortuosity syndrome patients

Csilla NémethZsófia NemodaPéter LőwPál SzabóErzsébet HorváthAndy WillaertAnnekatrien BoelBert CallewaertPaul CouckeMarina Colombi et al.

A1 Journal Article in OXIDATIVE MEDICINE AND CELLULAR LONGEVITY

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

Genetic analysis in consanguineous families from Palestine : a focus on cystic fibrosis and osteogenesis imperfecta

Osama EssawiPaul CouckeBert CallewaertTamer Essawi

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

Mutation update for the SATB2 gene

Yuri A. ZarateKatherine A. BosankoAisling R. CaffreyJonathan A. BernsteinDonna M. MartinMarc S. WilliamsElizabeth M. Berry-KravisPaul R. MarkMelanie A. ManningVikas Bhambhani et al.

A1 Journal Article in HUMAN MUTATION

Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum

Ilse MeerschautAude BeyensWouter SteyaertRiet De RyckeKatrien BonteTine De BackerSandra JanssensJoseph PanzerFrank PlasschaertDaniël De Wolf et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Non-invasive prenatal testing (NIPT) : how to handle secondary findings of maternal chromosomal abnormalities

Machteld BaetensTom SanteSarah VergultM. De SmetS. JanssensOlivier VanakkerBert CallewaertBruce PoppeAnnelies DheedeneBjörn Menten

Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy

Nurit Assia BatzirPranjali Kishor BhagwatAustin LarsonZeynep Coban AkdemirMaciej BaglajLeon BofferdingKatherine B. BosankoSkander BouassidaBert CallewaertAshley Cannon et al.

A1 Journal Article in HUMAN MUTATION

SMAD3 pathogenic variants : risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium

Ellen M HostetlerEllen S RegaladoDong-Chuan GuoNadine HannaPauline ArnaudLaura Muiño MosqueraBert CallewaertKwanghyuk LeeSuzanne M LealStephanie E Wallace et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

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

Lore PottieWouter Van GoolMichiel Van HooydonckPaul CouckePatrick SipsBert Callewaert

Two novel probands with Myhre syndrome identified through WES

Ilse MeerschautAude BeyensWouter SteyaertRiet De RyckeBjörn MentenKatrien BonteTine De BackerSandra JanssensFransiska MalfaitJoseph Panzer et al.

2018

A mutant ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome

Lore PottiePatrick SipsPaul CouckeBert Callewaert

Arterial tortuosity syndrome : 40 new families and literature review

Aude BeyensJuliette AlbuissonAnnekatrien BoelMazen Al-EssaWaheed Al-ManeaDamien BonnetOzlem BostanOdile BouteTiffany BusaNathalie Canham et al.

A1 Journal Article in GENETICS IN MEDICINE

ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome

Lore PottiePatrick SipsPaul CouckeBert Callewaert

BATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment (vol 6, 30330, 2016)

Annekatrien BoelWouter SteyaertNina De RockerBjörn MentenBert CallewaertAnne De PaepePaul CouckeAndy Willaert

Clinical validity of genes for heritable thoracic aortic aneurysm and dissection

Marjolijn RenardCatherine FrancisRajarshi GhoshAlan F ScottP Dane WitmerLesley C AdèsGregor U AndelfingerPauline ArnaudCatherine BoileauBert Callewaert et al.

A1 Journal Article in JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Clinicopathological findings in cutis laxa syndromes

Aude BeyensSofie De SchepperBert Callewaert

CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments

Annekatrien BoelHanna De SaffelWouter SteyaertBert CallewaertAnne De PaepePaul CouckeAndy Willaert

A1 Journal Article in DISEASE MODELS & MECHANISMS

De gevolgen van FOXP1-mutaties : meer dan verstandelijke beperking en taalontwikkelingsstoornissen alleen

Ilse MeerschautBert Callewaert

A4 Journal Article in NEURON (NEDERLANDSE ED.)

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.

Diagnosis of multiple endocrine neoplasia type 2B and management of its ocular features

Elke O. KrepsIsabelle Van HerzeeleBert Callewaert

A1 Journal Article in OPHTHALMIC GENETICS

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

Ophthalmic findings in patients with arterial tortuosity syndrome and carriers : a case series

Joshua S HardinYuri A ZarateBert CallewaertPaul H PhillipsDavid B Warner

A1 Journal Article in OPHTHALMIC GENETICS

Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care

Ivan IvanovskiOlivera DjuricStefano Giuseppe CaraffiDaniela SantodiroccoMarzia PollazzonSimonetta RosatoDuccio Maria CordelliEbtesam AbdallaPatrizia AccorsiMargaret P Adam et al.

A1 Journal Article in GENETICS IN MEDICINE

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

Ultrastructural elastic fiber morphology in cutis laxa reflects the underlying pathogenesis and supports a novel clinical classification

Aude BeyensRiet De RyckeHannes SyrynBjörn Fischer-ZirnsakTim Van DammeIngrid HausserMichiel De BruyneManrico MorroniS NampoothiriK. Mahesh et al.

2017

A novel case of autosomal dominant cutis laxa in a consanguineous family : report and literature review

Mehmet B DuzEmre KiratPaul CouckeErkan KoparirAlper GezdiriciAnne De PaepeBert CallewaertMehmet Seven

A1 Journal Article in CLINICAL DYSMORPHOLOGY

ACTB loss-of-function mutations result in a pleiotropic developmental disorder

Sara CuvertinoHelen M StuartKate E ChandlerNeil A RobertsRuth ArmstrongLaura BernardiniSanjeev BhaskarBert CallewaertJill Clayton-SmithCristina Hernando Davalillo et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Arterial tortuosity syndrome : 37 new families and literature review

Aude BeyensJuliette AlbuissonT BusaN CanhamJM ChopinM DasoukiK DevriendtH DietzBjörn Fischer-ZirnsakAlper Gezdirici et al.

Arterial tortuosity syndrome : 40 new families and literature review

Aude BeyensJuliette AlbuissonAnnekatrien BoelMazen Al-EssaDamien BonnetO BostanOdile BouteT BusaN CanhamErgun Cil et al.

Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability

Ruben Van PaemelPauline De BruyneSaskia van der StraatenMarleen D'HondtUrlien FränkelAnnelies DheedeneBjörn MentenBert Callewaert

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

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.

Fibromuscular dysplasia : results of a multicentre study in Flanders

Marie De GrootePatricia Van der NiepenDimitri HemelsoetBert CallewaertFrank VermassenJean-Marie BilliouwAn De VrieseJan DonckTine De Backer

A1 Journal Article in VASA-EUROPEAN JOURNAL OF VASCULAR MEDICINE

Fibromuscular dysplasia : results of a multicentre study in Flanders

Marie De GrooteDimitri HemelsoetPatricia Van der NiepenBert CallewaertFrank VermassenJean-Marie BilliouwAn De VrieseJan DonckTine De Backer

FOXP1-related intellectual disability syndrome : a recognisable entity

Ilse MeerschautDaniel RochefortNicole RevençuJustine PètreChristina CorselloGuy A RouleauFadi F HamdanJacques L MichaudJenny MortonJessica Radley et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

GLUT10 - lacking in arterial tortuosity syndrome - is localized to the endoplasmic reticulum of human fibroblasts

Alessandra GamberucciPaola MarcolongoCsilla E NémethNicoletta ZoppiAndrás SzarkaNicola ChiarelliTamás HegedűsMarco RitelliGiulia CariniAndy Willaert et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces

PF SinnigeCMA van Ravenswaaij-ArtsP CarusoAE LinM BoonE RahikkalaBert CallewaertLC Meiners

A1 Journal Article in EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

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

Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly

Daniela A BraunJia RaoGeraldine MolletDavid SchapiroMarie-Claire DaugeronWeizhen TanOlivier GribouvalOlivia BoyerPatrick RevyTilman Jobst-Schwan et al.

A1 Journal Article in NATURE GENETICS

Myhre syndrome : broadening the phenotypic spectrum

Ilse MeerschautSandra JanssensWouter SteyaertJoseph PanzerKatrien FrancoisFrank PlasschaertKatrien BonteTine De BackerPaul CouckeDaniël De Wolf et al.

Myhre syndrome : broadening the phenotypic spectrum

Ilse MeerschautSandra JanssensWouter SteyaertJoseph PanzerKatrien FrançoisFrank PlasschaertKatrien BonteTine De BackerPaul CouckeDaniël De Wolf et al.

Neuroimaging findings in Mowat-Wilson syndrome : a study of 54 patients

Livia GaravelliIvan IvanovskiStefano Giuseppe CaraffiDaniela SantodiroccoMarzia PollazzonDuccio Maria CordelliEbtesam AbdallaPatrizia AccorsiMargaret P AdamChiara Baldo et al.

A1 Journal Article in GENETICS IN MEDICINE

NR4A2 causes an autism spectrum disorder

Helene VerhelstPatrick VerlooAnnelies DheedeneBert CallewaertBjörn Menten

Small patella syndrome : new clinical and molecular insights into a consistent phenotype

C VanlerbergheA-S JourdainA DieuxA ToutainBert CallewaertS Dupuis-GirodS UngerM WrightB IsidorJ Ghoumid et al.

A1 Journal Article in CLINICAL GENETICS

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire RedinHarrison BrandRyan L CollinsTammy KamminElyse MitchellJennelle C HodgeCarrie HanscomVamsee PillalamarriCatarina M SeabraMary-Alice Abbott et al.

A1 Journal Article in NATURE GENETICS

2016

Arterial tortuosity syndrome : 29 novel families

Aude BeyensJuliette AlbuissonT BusaN CanhamJM CM. DasoukiK DevriendtH DietzBjörn Fischer-ZirnsakAlper Gezdirici et al.

BATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment

Annekatrien BoelWouter SteyaertNina De RockerBjörn MentenBert CallewaertAnne De PaepePaul CouckeAndy Willaert

A1 Journal Article in SCIENTIFIC REPORTS

Body disproportions and dysmorphisms in a Belgian population of adult women with Turner Syndrome : potential risk factors for chronic diseases?

Charlotte LievensAn-Sofie Van de KelftLaurent DemulierJulie De BackerBert CallewaertMargarita CraenGuy T'SjoenKatya De GrooteJean De Schepper

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.

Congenital contractural arachnodactyly: delineation of clinical criteria and confirmation of genetic heterogeneity

Ilse MeerschautBert Callewaert

Delayed adrenarche may be an additional feature of immunoglobulin super family member 1 deficiency syndrome

Severine Van HulleMargarita CraenBert CallewaertSjoerd JoustraWilma OostdijkMonique LosekootJan Maarten WitMarc Olivier TurgeonDaniel J BernardJean De Schepper

A1 Journal Article in JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY

FOXP1-related intellectual disability syndrome : a recognizable entity

Ilse MeerschautJ PètreN RevencuNELE BOCKAERTAnn OostraOlivier VanakkerM VelinovTJ de RavelD MekahliKK Vaux et al.

FOXP1-related intellectual disability syndrome: a recognizable entity

Ilse MeerschautJustine PètreNicole RevencuDamien LedererMilen VilenovThomy de RavelDjalila MekahliKeith VauxJonathan SebatFadi Hamdan et al.

FOXP1-related intellectual disability syndrome: a recognizable entity

Ilse MeerschautJustine PètreNicole RevencuDamien LedererMilen VilenovThomy de RavelDjalila MekahliKeith VauxJonathan SebatFadi Hamdan et al.

Glucose transporter type 10 - lacking in arterial tortuosity syndrome - facilitates dehydroascorbic acid transport

Csilla E NémethPaola MarcolongoAlessandra GamberucciRosella FulceriAngiolo BenedettiNicoletta ZoppiMarco RitelliNicola ChiarelliMarina ColombiAndy Willaert et al.

A1 Journal Article in FEBS LETTERS

IGSF1 deficiency: lessons from an extensive case series and recommendations for clinical management

SD JoustraCA HeinenN SchoenmakersM BonomiBEBP BallieuxM-O TurgeonDJ BernardE FliersASP van TrotsenburgM Losekoot et al.

A1 Journal Article in JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

LTBP4-related cutis laxa

Bert CallewaertZsolt Urban

Bookchapter in Gene reviews

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

Hannah VerdinAna Fernández-MiñánSara Benito-SanzSandra JanssensBert CallewaertKATHLEEN DE WAELEJean De SchepperInge FrançoisBjörn MentenKaren Heath et al.

Y RIN2 syndrome : expanding the clinical phenotype

Simonetta RosatoDelfien SyxIvan IvanovskiMarzia PollazzonDaniela SantodiroccoLoredana De MarcoMarina BeltramiBert CallewaertLivia GaravelliFransiska Malfait

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

2015

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

Marfan syndrome and related heritable thoracic aortic aneurysms and dissections

Julie De BackerMarjolijn RenardLaurence CampensLaura Muiño MosqueraAnne De PaepePaul CouckeBert CallewaertYskert von Kodolitsch

A1 Journal Article in CURRENT PHARMACEUTICAL DESIGN

Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape

Hannah VerdinAna Fernández-MiñánSara Benito-SanzSandra JanssensBert CallewaertKATHLEEN DE WAELEJean De SchepperInge FrançoisBjörn MentenKaren E Heath et al.

A1 Journal Article in SCIENTIFIC REPORTS

Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape

Hannah VerdinAna Fernández-MiñánSara Benito-SanzSandra JanssensBert CallewaertKATHLEEN DE WAELEJean De SchepperInge FrançoisBjörn MentenKaren Heath et al.

Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape.

Hannah VerdinAna Fernández-MiñánSara Benito-SanzSandra JanssensBert CallewaertKATHLEEN DE WAELEJean De SchepperInge FrançoisBjörn MentenJosé Luis Gómez-Skarmeta et al.

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

Recurrent duplications of 17q12 associated with variable phenotypes

Elyse MitchellAndrew DouglasSusanne KjaegaardBert CallewaertArnaud VanlanderSandra JanssensAmy Lawson YuenCindy SkinnerPinella FaillaAntonino Alberti et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Redefining the MED13L syndrome

Abidemi AdegbolaLuciana MusanteBert CallewaertPatricia MacielHao HuBertrand IsidorSylvie Picker-MinhCedric Le CaignecBarbara Delle ChiaieOlivier Vanakker et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: a case report suggesting a genotype-phenotype correlation

Ilse MeerschautMaria Bordon Cueto De BraemCatharina DhoogePatricia DelbekeArnaud VanlanderAmos SimonChristoph KleinR Frank KooyRaz SomechBert Callewaert

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects

Yaojuan JiaJacoba J LouwJeroen BreckpotBert CallewaertCatherine BarreaYves SznajerMarc GewilligErika SoucheLuc DehaspeJoris Robert Vermeesch et al.

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

The genetics of soft connective tissue disorders

Olivier VanakkerBert CallewaertFransiska MalfaitPaul Coucke

A1 Journal Article in Annual Review of Genomics and Human Genetics

2014

Absence of cardiovascular manifestations in a haploinsufficient TGFBR1 mouse model

Marjolijn RenardBram TrachetChristophe CasteleynLaurence CampensPieter CornillieBert CallewaertSteven DeleyeBert VandeghinstePaula van HeijningenHarry Dietz et al.

A1 Journal Article in PLOS ONE

Arterial tortuosity syndrome

Bert CallewaertAnne De PaepePaul Coucke

Bookchapter in GeneReviews®

Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene

Virendra MeharDinesh YadavRavindra KumarSummi YadavKuldeep SinghBert CallewaertShahnawaz ParhanAnne De PaepePaul Coucke

A2 Journal Article in JOURNAL OF PEDIATRIC GENETICS

Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations

Paul D BradyJeroen Van HoudtBert CallewaertJan DeprestKoenraad DevriendtJoris R Vermeesch

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Extensive clinical, hormonal and genetic screening in a large consecutive series of 46, XY neonates and infants with atypical sexual development

Dorien BaetensWilhelm MladenovBARBARA DELLE CHIAIEBjörn MentenAn DesloovereVioleta IotovaBert CallewaertErik Van LaeckePiet HoebekeElfride De Baere et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

FLH type 5 caused by a novel mutation in STXBP2 gene : an unusual cause of failure to thrive and diarrhea in infancy

Filomeen HaerynckRuth De BruyneMelissa DullaersROSELYNE UWERABert CallewaertElfride De BaereMyriam Van WinckelStephanie Van BiervlietSebastien van de VeldeVictoria Bordon

Mutation detection rate and - characteristics in thoracic aortic aneurysm (TAA) related disorders: results from next generation sequencing (NGS) panel testing

Laurence CampensLaura Muiño MosqueraBert CallewaertMarjolijn RenardMachteld BaetensAnne De PaepePaul CouckeJulie De Backer

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

Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1

Björn FischerBert CallewaertPhillipe SchroterPaul CouckeClaire SchlackClaus-Eric OttManrico MorroniWolfgang HomannStefan MundlosEva Morava et al.

A1 Journal Article in MOLECULAR GENETICS AND METABOLISM

Study of the regulatory landscape of SHOX in 503 LWD and ISS cases uncovers a key role of the upstream cis-regulatory element CNE-3

Hannah VerdinAna Fernández-MiñánKim De LeeneerLiza BormsSandra JanssensBert CallewaertFransiska MalfaitAriana KariminejadKATHLEEN DE WAELEInge François et al.

2013

An unusual presentation of congenital nephrotic syndrome caused by WT1 mutation

Ann RaesSOFIE MAEBEJo DehoorneBert CallewaertJohan Vande Walle

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

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

Genes in thoracic aortic aneurysms and dissections : do they matter? Translation and integration of research and modern genetic techniques into daily clinical practice

Julie De BackerMarjolijn RenardLaurence CampensKatrien FrancoisBert CallewaertPaul CouckeAnne De Paepe

A2 Journal Article in AORTA

New insights into the molecular diagnosis and management of heritable thoracic aortic aneurysms and dissections

Laurence CampensMarjolijn RenardBert CallewaertPaul CouckeJulie De BackerAnne De Paepe

A1 Journal Article in POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ-POLISH ARCHIVES OF INTERNAL MEDICINE

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD

Marjolijn RenardBert CallewaertMachteld BaetensLaurence CampensKay MacDermotJean-Pierre FrynsMarise BonduelleHarry C DietzIsabel Mendes GasparDiogo Cavaco et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF CARDIOLOGY

Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies: expanding the phenotypes associated with EFTUD2 mutations

Claudia VoigtAndré MégarbaneKornelia NevelingJohanna Christina CzeschikBeate AlbrechtBert CallewaertFlorian von DeimlingAndreas HehrMarie Falkenberg SmelandRainer König et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2

Marjolijn RenardBert CallewaertFransiska MalfaitLaurence CampensSaba SharifMiguel del CampoIrene ValenzuelaCatherine McwilliamPaul CouckeAnne De Paepe et al.

A1 Journal Article in INTERNATIONAL JOURNAL OF CARDIOLOGY

Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity

Smail Hadj-RabiaBert CallewaertEmmanuelle BourratMarlies KempersAstrid S PlompValerie LayetDeborah BartholdiMarjolijn RenardJulie De BackerFransiska Malfait et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

2012

A rare case of protein-loosing enteropathy and congenital lymphedema : Milroy's disease

Saskia Vande VeldeStephanie Van BiervlietMyriam Van WinckelRuth De BruyneBert Callewaert

A rare case of protein-loosing enteropathy and congenital lymphedema?

Saskia Vande VeldeStephanie Van BiervlietRuth De BruyneJelle DegraeuweBert CallewaertOlivier Van AkkerMyriam Van Winckel

A rare case of protein-loosing enteropathy and congenital lymphoedema?

Saskia Vande VeldeBert CallewaertJelle DegrauweOlivier Van AkkerRuth De BruyneStephanie Van BiervlietMyriam Van Winckel

Adults with Down syndrome: health/care considerations for health professionals

BARBARA DELLE CHIAIES Van den BraembusscheC ElsingS van den EntRoos LeroyBert CallewaertM WojciechowskiBruce PoppeG Van BuggenhoutG Van Goethem

A2 Journal Article in TIJDSCHRIFT VAN DE BELGISCHE KINDERARTS = JOURNAL DU PEDIATRE BELGE

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

Erfelijke vormen van thoracale aorta-aneurysma's en -dissecties : diagnostiek en beleid

Anne De PaepeBert CallewaertLaurence CampensPaul CouckeFransiska MalfaitMarjolijn RenardOlivier VanakkerJulie De BackerLAURENT DEMULIERKatrien Francois et al.

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

Funding opportunities include PhD and postdoctoral fellowships and research grants for senior clinical investigators in Belgium

Jennifer TaylorOlivier GheysensAnne De PaepePaul HerijgersJohan De SutterBert CallewaertDavy Vanhoutte

Editorial material

Gastrointestinal problems in children with Down syndrome

ELLEN MARISMyriam Van WinckelEls Van De VijverBruno HauserBert CallewaertIlse HoffmanBARBARA DELLE CHIAIE

A2 Journal Article in TIJDSCHRIFT VAN DE BELGISCHE KINDERARTS = JOURNAL DU PEDIATRE BELGE

GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling

Andy WillaertSandeep KhatriBert CallewaertPaul CouckeSeth CrosbyJoseph LeeElaine DavisSruti ShivaMichael TsangAnne De Paepe et al.

A1 Journal Article in HUMAN MOLECULAR GENETICS

Health problems in children with Down syndrome

M WojciechowskiC FranckeM KluiverT BoiyBert CallewaertBARBARA DELLE CHIAIEG DembourM De RademaekerA JansenS Kenis et al.

A2 Journal Article in TIJDSCHRIFT VAN DE BELGISCHE KINDERARTS = JOURNAL DU PEDIATRE BELGE

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome

Virgini CarmignacJulien ThevenonLesly AdèsBert CallewaertSophie JuliaChristel Thauvin-RobinetLucie GueneauJean-Benoit CourcetEstelle LopezKatherine Holman et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

The new Ghent criteria for Marfan syndrome: what do they change ?

L FaivreG Collod-BeroudL AdèsE ArbustiniA ChildBert CallewaertBart LoeysC BinquetE GautierK Mayer et al.

A1 Journal Article in CLINICAL GENETICS

2011

New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations

Bert CallewaertMarjolijn RenardVishwanathan HucthagowderBeate AlbrechtIngrid HausserEdward BlairCristina DiasAlice AlbinoHiroshi WachiFumiaki Sato et al.

A1 Journal Article in HUMAN MUTATION

2010

Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency

Marjolijn RenardTammy HolmRegan VeithBert CallewaertLesley C AdèsOsman BaspinarAngela PickartMajed DasoukiJuliane HoyerAnita Rauch et al.

A1 Journal Article in EUROPEAN JOURNAL OF HUMAN GENETICS

Inherited elastinopathies: novel clinical and etiopathogenetic insights

Bert CallewaertAnne De PaepeBart Loeys

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

The revised Ghent nosology for the Marfan syndrome

Bart LoeysHarry C DietzAlan C BravermanBert CallewaertJulie De BackerRichard B DevereuxYvonne Hilhorst-HofsteeGuillaume JondeauLaurence FaivreDianna M Milewicz et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

2009

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations

Laurence FaivreAlice Masurel-PauletGwenaëlle Collod-BéroudBert CallewaertAnne H ChildChantal StheneurChristine BinquetElodie GautierBertrand ChevallierFrédéric Huet et al.

A1 Journal Article in PEDIATRICS

Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation

Laurence FaivreG Collod-BeroudBert CallewaertA ChildC BinquetE GautierBart LoeysE ArbustiniK MayerM Arslan-Kirchner et al.

A1 Journal Article in European Journal of Human Genetics

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature

Bert CallewaertBart LoeysAnna FiccadentiSascha VermeerMagnus LandgrenHester Y KroesYuval YaronMichael PopeNicola FouldsOdile Boute et al.

A1 Journal Article in HUMAN MUTATION

Pathogenic FBN1 Mutations in 146 Adults Not Meeting Clinical Diagnostic Criteria for Marfan Syndrome: Further Delineation of Type 1 Fibrillinopathies and Focus on Patients With an Isolated Major Criterion

L FaivreG Collod-BeroudBert CallewaertA ChildBart LoeysC BinquetE GautierE ArbustiniK MayerM Arslan-Kirchner et al.

A1 Journal Article in American Journal of Medical Genetics Part A

Unusual 8p inverted duplication deletion with telomere capture from 8q

Karen BuysseF AntonacciBert CallewaertBart LoeysUlrike FränkelVictoria SiuGeert MortierFranki SpelemanBjörn Menten

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

2008

Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions

Bert CallewaertBart LoeysChristophe CasteleynAndy WillaertPieter DewintJulie De BackerR SedlmeierPaul SimoensAnne De PaepePaul Coucke

A1 Journal Article in GENESIS

Arterial tortuosity syndrome: Clinical and molecular findings in 12 newly identified families

Bert CallewaertAndy WillaertWS KERSTJENS-FREDERIKSEJulie De BackerK DEVRIENDTB ALBRECHTMA RAMOS-ARROYOM DOCO-FENZYRCM HENNEKAMRE PYERITZ et al.

A1 Journal Article in HUMAN MUTATION

Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands

L FaivreG Collod-BeroudA ChildBert CallewaertBart LoeysC BinquetE GautierE ArbustiniK MayerM Arslan-Kirchner et al.

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Discovery of genes in thoracic aortic aneurysms

Paul CouckeBart LoeysBert CallewaertAnne De Paepe

Bookchapter in Aortic aneurysms : new insights into an old problem

Ehlers-Danios syndromes and Marfan syndrome

Bert CallewaertFransiska MalfaitBart LoeysAnne De Paepe

A1 Journal Article in BEST PRACTICE & RESEARCH IN CLINICAL RHEUMATOLOGY

Fortschritt in der Pathogenese des Marfan-Syndroms und verwandter Krankheiten

Bert CallewaertAnne De Paepe

A1 Journal Article in MEDIZINISCHE GENETIK

2007

Een Belgische patiënt met Arterial Tortuosity Syndrome

Bert CallewaertBart LoeysJulie De BackerAndy WillaertD DevosM GewilligPaul CouckeK DevriendtAnne De Paepe

A2 Journal Article in TIJDSCHRIFT VAN DE BELGISCHE KINDERARTS = JOURNAL DU PEDIATRE BELGE

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study

L FaivreG Collod-BeroudBart LoeysA ChildC BinquetE GautierBert CallewaertE ArbustiniK MayerM Arslan-Kirchner et al.

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

New insights into the pathogenesis and treatment of arterial aneurysms and dissections

Bert CallewaertAnne De PaepeBart Loeys

A2 Journal Article in Current Cardiovascular Risk Reports

2006

Aneurysm syndromes caused by mutations in the TGF-β receptor

Bart LoeysUlrike SchwarzeTammy HolmBert CallewaertGeorge H. ThomasHariyadarshi PannuJulie De BackerGretchen L. OswaldSofie SymoensSylvie Manouvrier et al.

A1 Journal Article in NEW ENGLAND JOURNAL OF MEDICINE

Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome

Paul CouckeAndy WillaertMW WESSELSBert CallewaertN ZOPPIJulie De BackerJE FOXGMS MANCINIM KAMBOURISR GARDELLA et al.

A1 Journal Article in NATURE GENETICS

2004

Proteinase inhibitors TPCK and TLCK prevent Entamoeba histolytica induced disturbance of tight junctions and microvilli in enteric cell layers in vitro

Tineke LauwaetMaria José OliveiraBert CallewaertGeorges De BruyneMarcus MareelAncy Leroy

A1 Journal Article in INTERNATIONAL JOURNAL FOR PARASITOLOGY

2003

Proteolysis of enteric cell villin by Entamoeba histolytica cysteine proteinases

Tineke LauwaetMaria José OliveiraBert CallewaertGeorges De BruyneXavier SaelensSerge AnkriPeter VandenabeeleDavid MirelmanMarcus MareelAncy Leroy

A1 Journal Article in JOURNAL OF BIOLOGICAL CHEMISTRY