prof. dr. Bert Callewaert
- ORCID iD
- 0000-0002-9743-4205
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Advances in CRISPR-mediated knock-in of disease-related variants in zebrafish
(2024) -
Advances in CRISPR-mediated knock-in of disease- and cancer-related variants in zebrafish
(2024) -
- Journal Article
- A1
- open access
De novo variants in SP9 cause a novel form of interneuronopathy characterized by intellectual disability, autism spectrum disorder, and epilepsy with variable expressivity
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Haploinsufficiency of ZFHX3, encoding a key player in neuronal development, causes syndromic intellectual disability
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SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome
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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
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Inherited pathogenic variants in neurodevelopmental disorders: a potential pitfall in triobased analysis of clinical exomes
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- Journal Article
- open access
Valuable insights after one year whole exome sequencing in a fetal/prenatal setting
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Long-read sequencing and optical genome mapping enable full characterization of previously unresolved structural variation
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- Conference Paper
- C3
- open access
Long-read sequencing and optical genome mapping enable full characterization of previously unresolved structural variation
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Long-read sequencing resolves (complex) cryptic structural variation in patients with syndromic intellectual disability
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Long-read sequencing resolves (complex) cryptic structural variation in patients with syndromic intellectual disability
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Long-read sequencing enables full characterization of previously unresolved structural variation
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- Conference Paper
- C3
- open access
Long-read sequencing resolves (complex) cryptic structural variation in patients with syndromic intellectual disability
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Structural variants disrupt a critical regulatory region downstream of FOXG1
(2023) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 31(Supplement 1). p.28-28 -
- Journal Article
- A1
- open access
Beyond gene-disease validity : capturing structured data on inheritance, allelic requirement, disease-relevant variant classes, and disease mechanism for inherited cardiac conditions
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Jansen-de Vries syndrome : expansion of the PPM1D clinical and phenotypic spectrum in 34 families
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The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
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The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
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The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
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HRAS-related epidermal nevus syndromes : expansion of the spectrum with first branchial arch defects
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- Journal Article
- A1
- open access
ATP7A-related copper transport disorders : a systematic review and definition of the clinical subtypes
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Ligneous conjunctivitis mimicking preseptal cellulitis in a 3-month-old infant
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- Conference Paper
- C3
- open access
The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
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- Conference Paper
- C3
- open access
The establishment of the first reported zebrafish model for thoracic aortic dissection and rupture
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- Journal Article
- A1
- open access
Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder
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- Journal Article
- A1
- open access
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
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Long-read sequencing resolves cryptic structural variation in patients with syndromic intellectual disability
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- Journal Article
- A1
- open access
Variant-specific changes in RAC3 function disrupt corticogenesis in neurodevelopmental phenotypes
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- Journal Article
- A1
- open access
Exploring the mutational landscape of isolated congenital heart defects : an exome sequencing study using cardiac DNA
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LTBP1 promotes fibrillin incorporation into the extracellular matrix
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- Journal Article
- A1
- open access
SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile
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Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings
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Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(supplement 1). p.40-41 -
- Conference Paper
- C3
- open access
A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 (ZFHX3) gene
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- Journal Article
- A1
- open access
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
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- Journal Article
- A1
- open access
Identification of codon 146 KRAS variants in isolated epidermal nevus and multiple lesions in oculoectodermal syndrome : confirmation of the phenotypic continuum of mosaic RASopathies
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- Journal Article
- A1
- open access
Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)
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- Journal Article
- A1
- open access
Expanding the phenotype of B3GALNT2-related disorders
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- Journal Article
- A1
- open access
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases
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Transglutaminase mediated asprosin oligomerization allows its tissue storage as fibers
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Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement
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Major response to adalimumab in patient with Sweet syndrome associated to an acquired cutis laxa
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Expanded cardiovascular phenotype of Myhre syndrome includes tetralogy of Fallot suggesting a role for SMAD4 in human neural crest defects
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- Book Chapter
- open access
LTBP4-related cutis laxa
(2022) Gene reviews. -
MYT1L-associated neurodevelopmental disorder : description of 40 new cases and literature review of clinical and molecular aspects
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Phenotypic and molecular heterogeneity in mandibulofacial dysostoses : a case series from India
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Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis (vol 1348, pg 273, 2021)
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- Conference Paper
- C3
- open access
Isolated forearm mesomelic dysplasia caused by a genomic deletion encompassing the 2q31.1 HOXD gene cluster
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- Book Chapter
- open access
Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis
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ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder
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- Journal Article
- A1
- open access
Enhanced cGAS-STING-dependent interferon signaling associated with mutations in ATAD3A
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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (vol 108, pg 1095, 2021)
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Structural variants disrupt a critical regulatory region downstream of FOXG1
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- Journal Article
- A1
- open access
A reassessment of copy number variations in congenital heart defects : picturing the whole genome
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- Journal Article
- A1
- open access
Loss of zebrafish atp6v1e1b, encoding a subunit of vacuolar ATPase, recapitulates human ARCL type 2C syndrome and identifies multiple pathobiological signatures
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A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 gene (ZFHX3)
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Two cases of DCDC2‐related neonatal sclerosing cholangitis with developmental delay and literature review
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- Journal Article
- A1
- open access
Loss-of-function variants in EFEMP1 cause a recognizable connective tissue disorder characterized by cutis laxa and multiple herniations
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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
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Severe congenital cutis laxa : Identification of novel homozygous LOX gene variants in two families
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Arterial tortuosity syndrome : an ascorbate compartmentalization disorder?
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- Journal Article
- A1
- open access
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders
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Lack of resemblance between Myhre syndrome and other 'segmental progeroid' syndromes warrants restraint in applying this classification
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Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome
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Clinical characteristics of Galloway-Mowat syndrome and mutations in the TPRKB gene
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- Journal Article
- A1
- open access
Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder
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Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants
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- Journal Article
- A1
- open access
IQSEC2 disorder : a new disease entity or a Rett spectrum continuum?
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Cutis laxa : a comprehensive overview of clinical characteristics and pathophysiology
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Homozygous EMILIN1 loss-of-function variants impair both elastin and collagen fiber formation and cause a novel entity with arterial tortuosity and osteopenia
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa (vol 100, pg 216, 2017)
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ZMYND11-related syndromic intellectual disability : 16 patients delineating and expanding the phenotypic spectrum
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Lessons learned from 40 novel PIGA patients and a review of the literature
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Refinement of the clinical and mutational spectrum of UBE2A deficiency syndrome
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- Journal Article
- A1
- open access
Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa
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- Journal Article
- A1
- open access
New insights on the clinical variability of FKBP10 mutations
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Clinical and molecular description of 19 patients with GATAD2B-Associated Neurodevelopmental Disorder (GAND)
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Genética en la cardiopatía congénita : ¿estamos preparados?
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- Journal Article
- A1
- open access
Mowat-Wilson syndrome : growth charts
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Genetics in congenital heart disease : are we ready for it?
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- Journal Article
- A1
- open access
Deficient histone H3 propionylation by BRPF1-KAT6 complexes in neurodevelopmental disorders and cancer
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Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects
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Mutations in LTBP1 cause autosomal recessive cutis laxa syndrome
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Disproportion and dysmorphism in an adult Belgian population with Turner syndrome : risk factors for chronic diseases?
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A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix
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A clinical scoring system for congenital contractural arachnodactyly
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Knock-out of atp6v1e1b in zebrafish faithfully recapitulates the human cutis laxa syndrome and highlights the endosomal pathway in disease pathogenesis
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Knock-out of atp6v1e1b in zebrafish faithfully recapitulates the human cutis laxa syndrome and highlights the endosomal pathway in disease pathogenesis.
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- Miscellaneous
- open access
Arterial tortuosity syndrome : 40 new families and literature review (vol 20, pg 1236, 2017)
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Non-invasive prenatal testing (NIPT) : how to handle secondary findings of maternal chromosomal abnormalities
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A novel neurodevelopmental syndrome caused by loss-of-function of the Zinc Finger Homeobox 3 gene (ZFHX3)
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Transcriptome and protein analysis highlight the endosomal pathway in disease pathogenesis of metabolic CL syndrome
(2019) -
Mutation update for the SATB2 gene
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ATP6V0A2-related cutis laxa in 10 novel patients : focus on clinical variability and expansion of the phenotype
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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy
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Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum
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- Journal Article
- A1
- open access
Defining the clinical, molecular and ultrastructural characteristics in occipital horn syndrome : two new cases and review of the literature
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De novo and inherited pathogenic variants in KDM3B cause intellectual disability, short stature, and facial dysmorphism
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Two novel probands with Myhre syndrome identified through WES
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- Journal Article
- A1
- open access
Decreased nuclear ascorbate accumulation accompanied with altered genomic methylation pattern in fibroblasts from arterial tortuosity syndrome patients
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SMAD3 pathogenic variants : risk for thoracic aortic disease and associated complications from the Montalcino Aortic Consortium
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De novo missense variants in RAC3 cause a novel neurodevelopmental syndrome
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- Miscellaneous
- open access
BATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment (vol 6, 30330, 2016)
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ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome
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Delineation of a clinical scoring system and diagnostic criteria for CCA
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- Journal Article
- A1
- open access
CRISPR/Cas9-mediated homology-directed repair by ssODNs in zebrafish induces complex mutational patterns resulting from genomic integration of repair-template fragments
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- Journal Article
- A1
- open access
Clinical validity of genes for heritable thoracic aortic aneurysm and dissection
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- Journal Article
- A1
- open access
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
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A mutant ATP6V1E1 zebrafish model recapitulates the human cutis laxa syndrome
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De gevolgen van FOXP1-mutaties : meer dan verstandelijke beperking en taalontwikkelingsstoornissen alleen
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Clinicopathological findings in cutis laxa syndromes
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Ultrastructural elastic fiber morphology in cutis laxa reflects the underlying pathogenesis and supports a novel clinical classification
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Arterial tortuosity syndrome : 40 new families and literature review
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- Journal Article
- A1
- open access
Genetic analysis of osteogenesis imperfecta in the Palestinian population : molecular screening of 49 affected families
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Diagnosis of multiple endocrine neoplasia type 2B and management of its ocular features
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- Journal Article
- A1
- open access
Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care
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Ophthalmic findings in patients with arterial tortuosity syndrome and carriers : a case series
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NR4A2 causes an autism spectrum disorder
(2017) EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY. In European Journal of Paediatric Neurology 21(Supplement 1). p.e49-e49 -
Fibromuscular dysplasia : results of a multicentre study in Flanders
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Arterial tortuosity syndrome : 37 new families and literature review
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Arterial tortuosity syndrome : 40 new families and literature review
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Small patella syndrome : new clinical and molecular insights into a consistent phenotype
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- Journal Article
- A1
- open access
ACTB loss-of-function mutations result in a pleiotropic developmental disorder
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Confirmation of an ARID2 defect in SWI/SNF-related intellectual disability
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Mutations in KEOPS-complex genes cause nephrotic syndrome with primary microcephaly
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A novel case of autosomal dominant cutis laxa in a consanguineous family : report and literature review
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FOXP1-related intellectual disability syndrome : a recognisable entity
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Imaging in cutis laxa syndrome caused by a dominant negative ALDH18A1 mutation, with hypotheses for intracranial vascular tortuosity and wide perivascular spaces
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- Journal Article
- A1
- open access
GLUT10 - lacking in arterial tortuosity syndrome - is localized to the endoplasmic reticulum of human fibroblasts
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Congenital contractural arachnodactyly : delineation of clinical criteria
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Myhre syndrome : broadening the phenotypic spectrum
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Fibromuscular dysplasia : results of a multicentre study in Flanders
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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
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Congenital contractural arachnodactyly : delineation of clinical criteria
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Myhre syndrome : broadening the phenotypic spectrum
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- Journal Article
- A1
- open access
Neuroimaging findings in Mowat-Wilson syndrome : a study of 54 patients
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Mutations in ATP6V1E1 or ATP6V1A cause autosomal-recessive cutis laxa
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Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape
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Arterial tortuosity syndrome : 29 novel families
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Congenital contractural arachnodactyly
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Congenital contractural arachnodactyly : delineation of clinical criteria
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FOXP1-related intellectual disability syndrome : a recognizable entity
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Y RIN2 syndrome : expanding the clinical phenotype
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- Journal Article
- A1
- open access
BATCH-GE : batch analysis of next-generation sequencing data for genome editing assessment
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Glucose transporter type 10 - lacking in arterial tortuosity syndrome - facilitates dehydroascorbic acid transport
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IGSF1 deficiency: lessons from an extensive case series and recommendations for clinical management
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Delayed adrenarche may be an additional feature of immunoglobulin super family member 1 deficiency syndrome
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Congenital contractural arachnodactyly: delineation of clinical criteria and confirmation of genetic heterogeneity
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FOXP1-related intellectual disability syndrome: a recognizable entity
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FOXP1-related intellectual disability syndrome: a recognizable entity
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- Book Chapter
- open access
LTBP4-related cutis laxa
(2016) Gene reviews. -
Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape
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Profiling of upstream enhancers and chromatin conformation of the SHOX CIS-regulatory landscape.
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Severe congenital neutropenia with neurological impairment due to a homozygous VPS45 p.E238K mutation: a case report suggesting a genotype-phenotype correlation
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Recurrent de novo mutations affecting residue Arg138 of pyrroline-5-carboxylate synthase cause a progeroid form of autosomal-dominant cutis laxa
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- Journal Article
- A1
- open access
Profiling of conserved non-coding elements upstream of SHOX and functional characterisation of the SHOX cis-regulatory landscape
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Recurrent duplications of 17q12 associated with variable phenotypes
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Marfan syndrome and related heritable thoracic aortic aneurysms and dissections
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Redefining the MED13L syndrome
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The genetics of soft connective tissue disorders
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The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects
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- Journal Article
- A1
- open access
Gene panel sequencing in heritable thoracic aortic disorders and related entities: results of comprehensive testing in a cohort of 264 patients
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FLH type 5 caused by a novel mutation in STXBP2 gene : an unusual cause of failure to thrive and diarrhea in infancy
(2014) JOURNAL OF CLINICAL IMMUNOLOGY. In Journal of Clinical Immunology 34(Supplement 2). p.S211-S212 -
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
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Congenital contractural arachnodactyly due to a novel splice site mutation in the FBN2 gene
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- Journal Article
- A1
- open access
Extensive clinical, hormonal and genetic screening in a large consecutive series of 46, XY neonates and infants with atypical sexual development
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Arterial tortuosity syndrome
(2014) GeneReviews®. -
Severe congenital cutis laxa with cardiovascular manifestations due to homozygous deletions in ALDH18A1
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Exome sequencing identifies ZFPM2 as a cause of familial isolated congenital diaphragmatic hernia and possibly cardiovascular malformations
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Mutation detection rate and - characteristics in thoracic aortic aneurysm (TAA) related disorders: results from next generation sequencing (NGS) panel testing
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Neonatal progeroid variant of Marfan syndrome with congenital lipodystrophy results from mutations at the 3' end of FBN1 gene
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- Journal Article
- A1
- open access
Absence of cardiovascular manifestations in a haploinsufficient TGFBR1 mouse model
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New insights into the molecular diagnosis and management of heritable thoracic aortic aneurysms and dissections
(2013) POLSKIE ARCHIWUM MEDYCYNY WEWNETRZNEJ-POLISH ARCHIVES OF INTERNAL MEDICINE. 123(12). p.693-700 -
- Journal Article
- A1
- open access
Deficiency for the ER-stress transducer OASIS causes severe recessive osteogenesis imperfecta in humans
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An unusual presentation of congenital nephrotic syndrome caused by WT1 mutation
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- Journal Article
- A1
- open access
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies: expanding the phenotypes associated with EFTUD2 mutations
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- Journal Article
- A1
- open access
Twenty patients including 7 probands with autosomal dominant cutis laxa confirm clinical and molecular homogeneity
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Comprehensive clinical and molecular analysis of 12 families with type 1 recessive cutis laxa
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Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2
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- Journal Article
- A1
- open access
Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD
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Health problems in children with Down syndrome
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Gastrointestinal problems in children with Down syndrome
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Adults with Down syndrome: health/care considerations for health professionals
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- Conference Paper
- C3
- open access
A rare case of protein-loosing enteropathy and congenital lymphedema : Milroy's disease
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Funding opportunities include PhD and postdoctoral fellowships and research grants for senior clinical investigators in Belgium
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Erfelijke vormen van thoracale aorta-aneurysma's en -dissecties : diagnostiek en beleid
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In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome
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Comprehensive molecular analysis demonstrates type V collagen mutations in over 90% of patients with classic EDS and allows to refine diagnostic criteria
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A rare case of protein-loosing enteropathy and congenital lymphoedema?
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The new Ghent criteria for Marfan syndrome: what do they change ?
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GLUT10 is required for the development of the cardiovascular system and the notochord and connects mitochondrial function to TGFβ signaling
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A rare case of protein-loosing enteropathy and congenital lymphedema?
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New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations
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Inherited elastinopathies: novel clinical and etiopathogenetic insights
(2010) -
Altered TGFβ signaling and cardiovascular manifestations in patients with autosomal recessive cutis laxa type I caused by fibulin-4 deficiency
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- Journal Article
- A1
- open access
The revised Ghent nosology for the Marfan syndrome
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Short stature, severe aortic root dilation, skin hyperextensibility, extreme joint laxity and craniofacial dysmorphic features: a probable new syndrome
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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
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Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature
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Clinical and mutation-type analysis from an international series of 198 probands with a pathogenic FBN1 exons 24-32 mutation
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Unusual 8p inverted duplication deletion with telomere capture from 8q
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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
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Discovery of genes in thoracic aortic aneurysms
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Fortschritt in der Pathogenese des Marfan-Syndroms und verwandter Krankheiten
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Absence of arterial phenotype in mice with homozygous slc2A10 missense substitutions
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Ehlers-Danios syndromes and Marfan syndrome
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Contribution of molecular analyses in diagnosing Marfan syndrome and type I fibrillinopathies: an international study of 1009 probands
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Arterial tortuosity syndrome: Clinical and molecular findings in 12 newly identified families
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Een Belgische patiënt met Arterial Tortuosity Syndrome
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New insights into the pathogenesis and treatment of arterial aneurysms and dissections
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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
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Aneurysm syndromes caused by mutations in the TGF-beta receptor
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Mutations in the facilitative glucose transporter GLUT10 alter angiogenesis and cause arterial tortuosity syndrome
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Proteinase inhibitors TPCK and TLCK prevent Entamoeba histolytica induced disturbance of tight junctions and microvilli in enteric cell layers in vitro
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Proteolysis of enteric cell villin by Entamoeba histolytica cysteine proteinases