Research Explorer

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Project

Study of the molecular background and pathophysiology of monogenic disorders with structural cardiovasuclar anomalies

Outputs & Impact

Publications & research data ( 108 )

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

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

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

Ocular manifestations in congenital cutis laxa : a case series

Arnaud Van SlyckenAude BeyensBert CallewaertElke O. Kreps

A1 Journal Article in CORNEA

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

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

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

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

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.

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.

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

Michiel VanhooydonckElyne De NeefHanna De SaffelAnnekatrien BoelKathleen ClaesAndy WillaertBert Callewaert

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

Clinical impact of RNA-sequencing in diagnostics

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

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

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

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

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

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

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.

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.

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 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.

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

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

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

Elyne De NeefMichiel VanhooydonckHanna De SaffelBéatrice LintermansAndy WillaertBert CallewaertAnne VralKathleen Claes

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

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

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

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

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

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

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

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

Annelies DheedeneErika D'haenensEvelien PouillieSarah DelbaereOlivier VanakkerBert CallewaertBjörn Menten

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

Sarah DelbaereMachteld BaetensCandy KumpsEllen RoetsNoortje Van OostrumBert CallewaertSandra JanssensOlivier VanakkerBjörn Menten

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 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 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

Structural variants disrupt a critical regulatory region downstream of FOXG1

Eva D'haeneLies VantommeBjörn MentenBert CallewaertElfride De BaereSarah Vergult

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

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

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

Lisa HamerlinckLies VantommeEva D'haeneSarah VergultBert Callewaert

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

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

Griet De ClercqLies VantommeBert CallewaertSarah VergultAnnelies DheedeneBjörn Menten

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

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

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.

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

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

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

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

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

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

Expanding the phenotype of B3GALNT2-related disorders

Erika D'haenensSarah VergultBjörn MentenAnnelies DheedeneR. Frank KooyBert Callewaert

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

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.

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

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

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

LTBP4-related cutis laxa

Bert CallewaertZsolt Urban

Bookchapter in Gene reviews

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

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

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

Marlies ColmanMachteld BaetensOlivier VanakkerBert CallewaertDelfien SyxFransiska Malfait

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

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

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

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.

Structural variants disrupt a critical regulatory region downstream of FOXG1

Eva D'haeneLies VantommeBjörn MentenBert CallewaertElfride De BaereSarah Vergult

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

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

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.

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

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

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

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

Arterial tortuosity syndrome : an ascorbate compartmentalization disorder?

Annekatrien BoelKrisztina VeszelyiCsilla E. NemethAude BeyensAndy WillaertPaul CouckeBert CallewaertEva Margittai

A1 Journal Article in ANTIOXIDANTS & REDOX SIGNALING

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

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

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

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

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

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

Cutis laxa : a comprehensive overview of clinical characteristics and pathophysiology

Aude BeyensAnnekatrien BoelSofie SymoensBert Callewaert

A1 Journal Article in CLINICAL GENETICS

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.

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.

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