prof. dr. Bert Callewaert

Book
open access

Neurocutaneous Disorders due to Mitochondrial Proline Synthesis Defects

Björn Fischer-Zirnsak, Bert Callewaert (UGent) , Thatjana Gardeitchik and Uwe Kornak

(2026)

Journal Article
A1
open access

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

Vanya S.V.J. Rossel, Jaap J.A.J. van der Velden, Renske Janssen, Bert Callewaert (UGent) , Aude Beyens (UGent) , Fanny Morice-Picar, Maaike Vreeburg, Peter C. van den Akker, Saskia M. Maas, Gilles F.H. Diercks, et al.

(2026) JOURNAL OF DERMATOLOGICAL SCIENCE. 121(3). p.22-31

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Miscellaneous

Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations ( vol 32, pg 1086, 2024)

Eva Vanbelleghem (UGent) , Tim Van Damme (UGent) , Aude Beyens (UGent) , Sofie Symoens (UGent) , Kathleen Claes (UGent) , Julie De Backer (UGent) , Ilse Meerschaut, Floris Vanommeslaeghe (UGent) , Sigurd Delanghe (UGent) , Jenneke van den Ende, et al.

(2026) EUROPEAN JOURNAL OF HUMAN GENETICS.

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RNA-sequencing unveils novel FLT4 splice site variants in isolated CHD

Maxim Verlee (UGent) , Erika D'haenens (UGent) , Laurenz De Cock, Laura Muiño Mosquera (UGent) , Katya De Groote (UGent) , Kristof Vandekerckhove (UGent) , Joseph Panzer (UGent) , Ellen Roets (UGent) , Björn Menten (UGent) , Sofie Symoens (UGent) , et al.

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.691-691

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Journal Article
A1
open access

Foveal hypoplasia in Myhre syndrome : a novel association

Helena Van Haecke, Eva Vanbelleghem (UGent) , Elke O. Kreps (UGent) and Bert Callewaert (UGent)

(2025) OPHTHALMIC GENETICS. 46(6). p.662-664

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Journal Article
A2
open access

Autosomal recessive cutis laxa type 1C with LTBP4 mutation : unmasking an exceptional case in the Indian subcontinent

Dharitree Senapati, Vibhu Mendiratta, Bert Callewaert (UGent) , Kiran Agarwal, Md Ali Osama, Aude Beyens (UGent) and Sofie Symoens (UGent)

(2025) INDIAN DERMATOLOGY ONLINE JOURNAL. 16(6). p.969-972

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Arterial tortuosity syndrome : a longitudinal assessment of cardiovascular features and interventions from the collaborative for longitudinal aortic research in the young (CLARITY)

Bita Salamat, Sara B. Stephens, Jolie J. Britt, Taylor Beecroft-Dawson, Andrea Taylor, Laura Muiño Mosquera (UGent) , Bert Callewaert (UGent) , Aude Beyens (UGent) , Alexandra Channing, Michael P. Dilorenzo, et al.

(2025) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 197(11).

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

Mathis Hildonen, Andrea Ciolfi, Marco Ferilli, Camilla Cappelletti, Al Alam Chadi, David Amor, Tahsin Stefan Barakat, Valerie Benoit, Ohad Birk, Bert Callewaert (UGent) , et al.

(2025) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 33(Supplement 1). p.953-953

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Clinical validity of autosomal dominant ALPK3 loss-of-function variants as a cause of hypertrophic cardiomyopathy

Sophie Hespe, Emma S. Singer, Chloe Reuter, Brittney Murray, Elizabeth Jordan, Jessica Chowns, Stacey Peters, Megan Mayers, Belinda Gray, Ray E. Hershberger, et al.

(2025) CIRCULATION-GENOMIC AND PRECISION MEDICINE. 18(3). p.315-318

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Journal Article
A1
open access

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

Christopher C. Y. Mak, Hannah Klinkhammer, Sanaa Choufani, Nikola Reko, Angela K. Christman, Elise Pisan, Martin M. C. Chui, Mianne Lee, Fiona Leduc, Jennifer C. Dempsey, et al.

(2025) EBIOMEDICINE. 115.

Academic Bibliography

prof. dr. Bert Callewaert

Neurocutaneous Disorders due to Mitochondrial Proline Synthesis Defects

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

Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations ( vol 32, pg 1086, 2024)

RNA-sequencing unveils novel FLT4 splice site variants in isolated CHD

Foveal hypoplasia in Myhre syndrome : a novel association

Autosomal recessive cutis laxa type 1C with LTBP4 mutation : unmasking an exceptional case in the Indian subcontinent

Arterial tortuosity syndrome : a longitudinal assessment of cardiovascular features and interventions from the collaborative for longitudinal aortic research in the young (CLARITY)

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

Clinical validity of autosomal dominant ALPK3 loss-of-function variants as a cause of hypertrophic cardiomyopathy

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

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