Bert Callewaert

Ghent University Hospital — Belgium

Biochemistry, Genetics and Molecular Biology · Life Sciences

46h-index11.3kcitations274works3.32yr avg
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Research Topics

Connective tissue disorders research(110), Congenital heart defects research(34), Genomics and Rare Diseases(31), Genetics and Neurodevelopmental Disorders(30), Aortic Disease and Treatment Approaches(23)

Publications272 total

ARID5B mutations cause a neurodevelopmental syndrome with neuroinflammation episodes
2026Open Access
Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratoderma
Journal of Dermatological Science·2026Open Access
Autosomal Dominant Transmission Reframes Reproductive Counseling in Myhre Syndrome: A Novel Family and Literature Review
American Journal of Medical Genetics Part C Seminars in Medical Genetics·2025Open Access
Evaluating variants of uncertain significance in adult zebrafish via prime editing: a proof of concept with a COL1A2 variant
BMC Medical Genomics·2025Open Access
RBMX functional retrocopy safeguards brain development
2025Open Access
Retinal vasculitis associated with type M2 antimitochondrial antibodies
Retinal Cases & Brief Reports·2025
Haploinsufficient variants in SMAD5 are associated with isolated congenital heart disease
Human Genetics and Genomics Advances·2025Open Access
Arterial Tortuosity Syndrome: A Longitudinal Assessment of Cardiovascular Features and Interventions From the Collaborative for Longitudinal Aortic Research in the Young (CLARITY)
American Journal of Medical Genetics Part A·2025Open Access
Autosomal Recessive Cutis Laxa Type 1C with LTBP4 Mutation: Unmasking an Exceptional Case in the Indian Subcontinent
Indian Dermatology Online Journal·2025Open Access
Intracranial hypertension with papilledema associated with long‐term use of over‐the‐counter retinol day cream
Headache The Journal of Head and Face Pain·2025· 1 cited
Case report: Recurrent catatonia in a patient with 17p13.3 microduplication syndrome
Frontiers in Psychiatry·2025Open Access
Shprintzen-Goldberg syndrome: follow-up of the cardiovascular features in an international cohort of 29 patients with SGS
Journal of Medical Genetics·2025Open Access
Comprehensive analysis of CNOT3-related neurodevelopmental disorders: phenotypic and genotypic characterization
European Journal of Human Genetics·2025· 3 citedOpen Access
Foveal hypoplasia in Myhre syndrome: a novel association
Ophthalmic Genetics·2025
Cracking rare disorders: a new minimally invasive RNA-seq protocol
npj Genomic Medicine·2025· 4 citedOpen Access
Prime editing outperforms homology-directed repair as a tool for CRISPR-mediated variant knock-in in zebrafish
Lab Animal·2025· 7 citedOpen Access
Biallelic loss-of-function variants in ZNF142 are associated with a robust DNA methylation signature affecting a limited number of genomic loci
European Journal of Human Genetics·2025· 3 citedOpen Access
Loss of function of the zinc finger homeobox 4 gene, ZFHX4, underlies a neurodevelopmental disorder
The American Journal of Human Genetics·2025· 6 citedOpen Access
Artificial intelligence-driven genotype–epigenotype–phenotype approaches to resolve challenges in syndrome diagnostics
EBioMedicine·2025· 2 citedOpen Access
De Novo CUL3 Variant in a Child Presenting With Hypertension and Kidney Failure
Kidney International Reports·2025Open Access
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Frequent Co-authors

Paul Coucke(25), Anne De Paepe(20), Julie De Backer(18), Bart Loeys(16), Sofie Symoens(10), Guillaume Jondeau(9), Peter N. Robinson(9), Lesley C. Adès(9), Cathérine Boileau(9), Laurence Faivre(8), Harry C. Dietz(7), Gwenaëlle Collod‐Béroud(7), Eloisa Arbustini(7), Christophe Béroud(7), Marjolijn Renard(7), Fransiska Malfait(7), Anne H. Child(6), Christine Binquet(6), Élodie Gautier(6), Karin Mayer(6)