Research Explorer

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Researcher

Bert Callewaert

188 Results

2022

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

Bert CallewaertStephanie 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 PottieAude BeyensPiyanoot TapaneeyaphanAdelbert De ClercqRiet De RyckePatrick SipsBert Callewaert

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

Bert CallewaertIlse Meerschaut

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Expanding the phenotype of B3GALNT2-related disorders

Sarah VergultBjörn MentenAnnelies DheedeneBert Callewaert

A1 Journal Article in GENES

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

Bert Callewaert

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 FrancoisKatya De GrooteJoseph PanzerKristof VandekerckhovePetra VermassenSofie SymoensPaul CouckeDaniël De WolfBert Callewaert

A1 Journal Article in GENES

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

Ilse MeerschautBert Callewaert

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 BeyensSandra JanssensSofie De SchepperBert Callewaert

A1 Journal Article in INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

LTBP1 promotes fibrillin incorporation into the extracellular matrix

Bert Callewaert

A1 Journal Article in MATRIX BIOLOGY

LTBP4-related cutis laxa

Bert Callewaert

Bookchapter in Gene reviews

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

Virginie NinclausLiesbeth HuysBert CallewaertElke kreps

U Journal Article in Ophthalmic Genetics

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

Bert Callewaert

A1 Journal Article in GENETICS IN MEDICINE

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

Bert CallewaertAnnelies DheedeneCandy KumpsSarah VergultBjörn Menten

A1 Journal Article in HUMAN GENETICS

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

Aude BeyensBert Callewaert

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

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

Annelies DheedeneBjörn MentenPatrick SipsAnne De PaepeBert Callewaert

A1 Journal Article in CLEFT PALATE-CRANIOFACIAL JOURNAL

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

Bert CallewaertAnne De Paepe

A1 Journal Article in GENETICS IN MEDICINE

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

Nika SchuermansDimitri HemelsoetSanne SteyaertRudy Van CosterPaul CouckeBert CallewaertElke BogaertArnaud VanlanderElke DebackereJody GhijselsPontus LeBlancHannah VerdinLeslie NaesensFilomeen HaerynckSteven CallensBart DermautBruce PoppeJan De BleeckerPatrick SantensPaul BoonGuy LaureysTessa Kerre

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

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

Bert Callewaert

A1 Journal Article in BRAIN

2021

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

Ilse MeerschautSarah VergultAnnelies DheedeneBjörn MentenKatya De GrooteJoseph PanzerKristof VandekerckhovePaul CouckeDaniël De WolfBert Callewaert

A1 Journal Article in GENES

Arterial tortuosity syndrome : an ascorbate compartmentalization disorder?

Annekatrien BoelAude BeyensAndy WillaertPaul CouckeBert Callewaert

A1 Journal Article in ANTIOXIDANTS & REDOX SIGNALING

Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome

Lore PottieAude BeyensPiyanoot TapaneeyaphanAdelbert De ClercqRiet De RyckePatrick SipsBert Callewaert

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 PottieAude BeyensPiyanoot TapaneeyaphanRiet De RyckeBert Callewaert

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

Eva JacobsSarah VergultBert CallewaertBjörn Menten

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

Bert CallewaertAnn RaesJohan Vande WalleJo DehoorneLien DosscheEvelien Snauwaert

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

Bert Callewaert

A1 Journal Article in GENETICS IN MEDICINE

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

Bert CallewaertFranny Faes

A1 Journal Article in JOURNAL OF EXPERIMENTAL MEDICINE

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

Eva JacobsAnnelies DheedeneArnaud VanlanderSarah VergultBert Callewaert

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?

Candy KumpsBert Callewaert

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

Bert Callewaert

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 VanhooydonckGeert 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 BeyensLore PottieSilke De FeyterMichiel VanhooydonckPiyanoot TapaneeyaphanSofie SymoensBert Callewaert

A1 Journal Article in GENES

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

Bert CallewaertCandy KumpsAnnelies Dheedene

A1 Journal Article in HUMAN GENETICS

Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders

Bert Callewaert

A1 Journal Article in GENOME MEDICINE

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

Bert CallewaertAude Beyens

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

Anne HoorensSofie SymoensSaskia Vande VeldeStephanie Van BiervlietMyriam Van WinckelBert CallewaertRuth De Bruyne

A1 Journal Article in CLINICAL GENETICS

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

Bert Callewaert

A1 Journal Article in CLINICAL GENETICS

2020

A clinical scoring system for congenital contractural arachnodactyly

Ilse MeerschautShana De ConinckWouter SteyaertFrank PlasschaertPaul CouckeAnne De PaepeDaniël De WolfSofie SymoensBert Callewaert

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

Aude BeyensSofie SymoensBert Callewaert

A1 Journal Article in MATRIX BIOLOGY

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

Bert Callewaert

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

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

Hannah VerdinElfride De BaereBert Callewaert

A1 Journal Article in SCIENCE ADVANCES

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

Katya De GrooteJulie 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 BeyensSofie SymoensBert Callewaert

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

Bert Callewaert

A1 Journal Article in EPILEPSIA

Mowat-Wilson syndrome : growth charts

Bert Callewaert

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 DammeBrecht GuillemynDelfien SyxWouter SteyaertRiet De RyckePaul CouckeSofie SymoensAnne De PaepeFransiska MalfaitBert Callewaert

Mutations in LTBP1 cause autosomal recessive cutis laxa syndrome

Lore PottieAude BeyensRiet De RyckePatrick SipsBert Callewaert

New insights on the clinical variability of FKBP10 mutations

Osama EssawiPiyanoot TapaneeyaphanSofie SymoensCharlotte GistelinckFransiska MalfaitBert 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

Bert Callewaert

A1 Journal Article in JOURNAL OF INHERITED METABOLIC DISEASE

Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome

Bert Callewaert

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 BoelMarine VanhomwegenAude BeyensMarjolijn RenardChristophe CasteleynBenedicte DescampsChristian VanhovePaul CouckeAndy WillaertBert Callewaert

A1 Journal Article in HUMAN MOLECULAR GENETICS

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

Bert Callewaert

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 VergultAnnelies DheedeneBjörn MentenBert Callewaert

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

Aude BeyensSofie SymoensBert Callewaert

A1 Journal Article in EXPERIMENTAL DERMATOLOGY

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

Aude BeyensAnnekatrien BoelPaul CouckeSofie De SchepperInge De WandeleAndy WillaertBert Callewaert

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

Annekatrien BoelBert Callewaert

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome

Bert CallewaertBjörn MentenArnaud VanlanderSarah Vergult

A1 Journal Article in GENETICS IN MEDICINE

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

Andy WillaertAnnekatrien BoelBert CallewaertPaul Coucke

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 BeyensLore PottieRiet De RyckeMichiel De BruyneFemke BaekePiet HoebekeFrank PlasschaertSofie De SchepperSofie SymoensBert Callewaert

A1 Journal Article in GENES

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

Osama EssawiPaul CouckeBert Callewaert

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

Bert CallewaertAnn Oostra

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 WolfBert Callewaert

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 VergultOlivier VanakkerBert CallewaertBruce PoppeAnnelies DheedeneBjörn Menten

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

Bert Callewaert

A1 Journal Article in HUMAN MUTATION

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

Laura Muiño MosqueraBert CallewaertJulie De Backer

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 GoolPaul CouckePatrick SipsBert Callewaert

Two novel probands with Myhre syndrome identified through WES

Ilse MeerschautAude BeyensWouter SteyaertRiet De RyckeBjörn MentenKatrien BonteTine De BackerSandra JanssensFransiska MalfaitJoseph PanzerFrank PlasschaertPaul CouckeDaniël De WolfBert Callewaert

2018

A mutant ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome

Lore PottiePatrick SipsPaul CouckeBert Callewaert

ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome

Lore PottiePatrick SipsPaul CouckeBert Callewaert

Arterial tortuosity syndrome : 40 new families and literature review

Aude BeyensAnnekatrien BoelPaul CouckeJulie De BackerAnne De PaepeSofie De SchepperInge De WandeleLaura Muiño MosqueraMarine VanhomwegenAndy WillaertBert Callewaert

A1 Journal Article in GENETICS IN MEDICINE

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

Clinical validity of genes for heritable thoracic aortic aneurysm and dissection

Marjolijn RenardBert CallewaertJulie De Backer

A1 Journal Article in JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY

Clinicopathological findings in cutis laxa syndromes

Aude BeyensSofie De SchepperBert Callewaert

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 MeerschautWouter SteyaertDaniël De WolfFrank PlasschaertPaul CouckeAnne De PaepeSofie SymoensBert Callewaert

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

Elke 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 SymoensAndy WillaertBert CallewaertAnne De PaepeFransiska MalfaitPaul Coucke

A1 Journal Article in MOLECULAR GENETICS & GENOMIC MEDICINE

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

Bert Callewaert

A1 Journal Article in OPHTHALMIC GENETICS

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

Bert Callewaert

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 SteijnsIlse MeerschautAnne De PaepeWouter SteyaertSofie SymoensPaul CouckeBert CallewaertMarjolijn RenardJulie De Backer

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 SyrynTim Van DammeMichiel De BruyneSofie De SchepperBert Callewaert

2017

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

Paul CouckeAnne De PaepeBert Callewaert

A1 Journal Article in CLINICAL DYSMORPHOLOGY

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

Bert Callewaert

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Arterial tortuosity syndrome : 37 new families and literature review

Aude BeyensAnne De PaepeLaura Muiño MosqueraJulie De BackerAnnekatrien BoelAndy WillaertPaul CouckeBert Callewaert

Arterial tortuosity syndrome : 40 new families and literature review

Aude BeyensAnnekatrien BoelPaul CouckeJulie De BackerAnne De PaepeSofie De SchepperInge De WandeleBart LoeysLaura Muiño MosqueraMarine VanhomwegenAndy WillaertBert Callewaert

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

Ruben Van PaemelPauline De BruyneSaskia van der StraatenMarleen D'HondtAnnelies 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 SteyaertJulie De BackerPaul CouckeAnne De PaepeSofie SymoensBert Callewaert

Congenital contractural arachnodactyly : delineation of clinical criteria

Ilse MeerschautShana De ConinckWouter SteyaertJulie De BackerPaul CouckeAnne De PaepeSofie SymoensBert Callewaert

FOXP1-related intellectual disability syndrome : a recognisable entity

Ilse MeerschautAnn OostraOlivier VanakkerAnnelies DheedeneBjörn MentenBert Callewaert

A1 Journal Article in JOURNAL OF MEDICAL GENETICS

Fibromuscular dysplasia : results of a multicentre study in Flanders

Dimitri HemelsoetBert CallewaertFrank VermassenTine De Backer

A1 Journal Article in VASA-EUROPEAN JOURNAL OF VASCULAR MEDICINE

Fibromuscular dysplasia : results of a multicentre study in Flanders

Dimitri HemelsoetBert CallewaertFrank VermassenTine De Backer

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

Andy WillaertBert CallewaertPaul Coucke

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

Bert Callewaert

A1 Journal Article in EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa

Tim Van DammeBrecht GuillemynDelfien SyxWouter SteyaertRiet De RyckePaul CouckeSofie SymoensAnne De PaepeFransiska MalfaitBert Callewaert

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

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

Björn MentenSarah VergultNina De RockerMarleen PraetAgnieszka Prytula-EbelsBert Callewaert

A1 Journal Article in NATURE GENETICS

Myhre syndrome : broadening the phenotypic spectrum

Ilse MeerschautSandra JanssensWouter SteyaertJoseph PanzerKatrien FrancoisFrank PlasschaertKatrien BonteTine De BackerPaul CouckeDaniël De WolfBert Callewaert

Myhre syndrome : broadening the phenotypic spectrum

Ilse MeerschautSandra JanssensWouter SteyaertJoseph PanzerFrank PlasschaertKatrien BonteTine De BackerPaul CouckeDaniël De WolfBert Callewaert

NR4A2 causes an autism spectrum disorder

Helene VerhelstAnnelies DheedeneBert CallewaertBjörn Menten

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

Bert Callewaert

A1 Journal Article in GENETICS IN MEDICINE

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

Bert Callewaert

A1 Journal Article in CLINICAL GENETICS

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

Bert CallewaertAnnelies DheedeneSandra JanssensBjörn MentenSarah Vergult

A1 Journal Article in NATURE GENETICS

2016

Arterial tortuosity syndrome : 29 novel families

Aude BeyensAnne De PaepeLaura Muiño MosqueraJulie De BackerAndy WillaertAnnekatrien BoelPaul CouckeBert Callewaert

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

Congenital contractural arachnodactyly

Ilse MeerschautShana De ConinckWouter SteyaertJulie De BackerPaul CouckeAnne De PaepeSofie SymoensBert Callewaert

Congenital contractural arachnodactyly : delineation of clinical criteria

Ilse MeerschautShana De ConinckWouter SteyaertJulie De BackerPaul CouckeAnne De PaepeSofie SymoensBert Callewaert

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

Margarita CraenBert CallewaertJean De Schepper

A1 Journal Article in JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY

FOXP1-related intellectual disability syndrome : a recognizable entity

Ilse MeerschautAnn OostraOlivier VanakkerAnnelies DheedeneBjörn MentenBert Callewaert

FOXP1-related intellectual disability syndrome: a recognizable entity

Ilse MeerschautBert Callewaert

FOXP1-related intellectual disability syndrome: a recognizable entity

Ilse MeerschautBert Callewaert

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

Andy WillaertBert CallewaertPaul Coucke

A1 Journal Article in FEBS LETTERS

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

Bert CallewaertJean De Schepper

A1 Journal Article in JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM

LTBP4-related cutis laxa

Bert Callewaert

Bookchapter in Gene reviews

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

Hannah VerdinSandra JanssensBert CallewaertJean De SchepperBjörn MentenElfride De Baere

Y RIN2 syndrome : expanding the clinical phenotype

Delfien SyxBert CallewaertFransiska 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 Callewaert

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 VerdinSandra JanssensBert CallewaertJean De SchepperBjörn MentenElfride De Baere

A1 Journal Article in SCIENTIFIC REPORTS

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

Hannah VerdinSandra JanssensBert CallewaertJean De SchepperBjörn MentenElfride De Baere

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

Hannah VerdinSandra JanssensBert CallewaertJean De SchepperBjörn MentenElfride De Baere

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

Sofie SymoensBert Callewaert

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

Recurrent duplications of 17q12 associated with variable phenotypes

Bert CallewaertArnaud VanlanderSandra JanssensElke Van Oudenhove

A1 Journal Article in AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Redefining the MED13L syndrome

Bert CallewaertOlivier VanakkerBjörn MentenAnnelies Dheedene

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 MeerschautVictoria Bordon MariaCatharina DhoogeArnaud VanlanderBert 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

Bert Callewaert

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 VandeghinsteFilip De VosSteven StaelensPatrick SegersBart LoeysPaul CouckeAnne De PaepeJulie De Backer

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

Bert CallewaertAnne 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

Bert Callewaert

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 BaetensBarbara Delle ChiaeieBjörn MentenAn DesloovereBert CallewaertErik Van LaeckePiet HoebekeElfride De BaereMartine Cools

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 DullaersBert CallewaertElfride De BaereMyriam Van WinckelStephanie Van Biervliet

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

Bert CallewaertPaul CouckeAnne De PaepeSofie Symoens

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

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

Bert CallewaertPaul Coucke

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 VerdinKim De LeeneerSandra JanssensBert CallewaertFransiska MalfaitBjörn MentenElfride De Baere

2013

An unusual presentation of congenital nephrotic syndrome caused by WT1 mutation

Ann RaesJo DehoorneBert CallewaertJohan Vande Walle

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

Bert CallewaertTim Van DammePhilip VlummensFransiska MalfaitOlivier VanakkerSofie SymoensPaul CouckeAnne De Paepe

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 SteyaertAnne De PaepePaul Coucke

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

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 CampensPaul CouckeBart LoeysAnne De PaepeJulie De Backer

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

Bert Callewaert

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 CampensPaul CouckeAnne De PaepeJulie De Backer

A1 Journal Article in INTERNATIONAL JOURNAL OF CARDIOLOGY

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

Bert CallewaertMarjolijn RenardJulie De BackerFransiska MalfaitOlivier VanakkerPaul CouckeAnne De Paepe

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 BiervlietBert CallewaertMyriam Van Winckel

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

Saskia Vande VeldeBert CallewaertRuth De BruyneStephanie Van BiervlietMyriam Van Winckel

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

Barbara Delle ChiaeieRoos LeroyBert CallewaertBruce Poppe

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 BackerKatrien FrancoisThierry BovéDaniël De WolfKatya De GrooteJoseph PanzerKristof VandekerckhoveFrank VermassenIsabelle Van HerzeeleDaniel Devos

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE

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

Anne De PaepeJohan De SutterBert Callewaert

Editorial material

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

Andy WillaertBert CallewaertPaul CouckeAnne De Paepe

A1 Journal Article in HUMAN MOLECULAR GENETICS

Gastrointestinal problems in children with Down syndrome

Myriam Van WinckelBert CallewaertBarbara Delle Chiaeie

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

Health problems in children with Down syndrome

Bert CallewaertBarbara Delle Chiaeie

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

Bert CallewaertMarjolijn RenardJulie De BackerAnne De Paepe

A1 Journal Article in AMERICAN JOURNAL OF HUMAN GENETICS

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

Bert CallewaertBart LoeysJulie De BackerPaul CouckeAnne De Paepe

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 RenardBart LoeysPaul CouckeAnne De Paepe

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 RenardBert CallewaertPaul CouckeAnne De PaepeBart Loeys

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

Sofie SymoensMarjolijn RenardBert CallewaertJulie De BackerFransiska MalfaitPaul CouckeAnne De PaepeBart Loeys

A1 Journal Article in CLINICAL DYSMORPHOLOGY

The revised Ghent nosology for the Marfan syndrome

Bart LoeysBert CallewaertJulie De BackerAnne De Paepe

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

Bert CallewaertBart LoeysJulie De BackerPaul CouckeAnne De Paepe

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

Bert CallewaertBart LoeysJulie De BackerPaul CouckeAnne De Paepe

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 LoeysJulie De BackerPaul CouckeAnne De Paepe

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

Bert CallewaertBart LoeysJulie De BackerPaul CouckeAnne De Paepe

A1 Journal Article in American Journal of Medical Genetics Part A

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

Karen BuysseBert CallewaertBart LoeysGeert 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 BackerPaul SimoensAnne De PaepePaul Coucke

A1 Journal Article in GENESIS

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

Bert CallewaertAndy WillaertJulie De BackerRenée DekensBart LoeysPaul CouckeAnne De Paepe

A1 Journal Article in HUMAN MUTATION

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

Bert CallewaertBart LoeysJulie De BackerPaul CouckeAnne De Paepe

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 WillaertPaul CouckeAnne 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

Bart LoeysBert CallewaertJulie De BackerPaul CouckeAnne De Paepe

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-beta receptor

Bart LoeysBert CallewaertJulie De BackerPaul CouckeAnne De Paepe

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 WillaertBert CallewaertJulie De BackerBart LoeysAnne De Paepe

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

Bert CallewaertGeorges De BruyneMarcus MareelAncy Leroy

A1 Journal Article in INTERNATIONAL JOURNAL FOR PARASITOLOGY

2003

Proteolysis of enteric cell villin by Entamoeba histolytica cysteine proteinases

Bert CallewaertGeorges De BruyneXavier SaelensPeter VandenabeeleMarcus MareelAncy Leroy

A1 Journal Article in JOURNAL OF BIOLOGICAL CHEMISTRY