Ghent University Academic Bibliography

Journal Article
A1
open access

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants

Miriam Bauwens (UGent) , Vincent De Man, Isabelle Audo, Irina Balikova, Wadih M. Zein, Vasily Smirnov, Sebastian Held, Sascha Vermeer, Elke Loos, Julie Jacob, et al.

(2025) CLINICAL GENETICS. 107(1). p.44-55

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Unexpected high prevalence of focal facial dermal dysplasia (FFDD) type IV is linked to a founder effect in the Belgian population

Aude Beyens (UGent) , Stefanie van de Voorde, Marta Guerreiro Santano Ramos Da Silva, Sofie De Meulemeester, Koen Devriendt, Marleen Goeteyn (UGent) , Sandra Janssens (UGent) , R. Frank Kooy, Toon Rosseel (UGent) , Sofie Symoens (UGent) , et al.

(2025) CLINICAL GENETICS. 107(5). p.579-581

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Journal Article
A1
open access

Unraveling the genetic landscape of foot arch morphology : a systematic review of single nucleotide polymorphisms

Yukun He (UGent) , Marlies Verleyen (UGent) , Bert Callewaert (UGent) , Arne Burssens (UGent) and Emmanuel Audenaert (UGent)

(2025) CLINICAL GENETICS. 107(5). p.485-494

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Miscellaneous

In memory of Ludwine Messiaen, Ph.D. (1956-2024)

Elfride De Baere (UGent) , Eric Legius, Reiner A. Veitia and Kathleen Claes (UGent)

(2024) CLINICAL GENETICS. 106(5). p.535-536

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Journal Article
A1
open access

Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform

Marta del Pozo Valero (UGent) , Basamat Almoallem Mohammed, Alfredo Dueñas Rey (UGent) , Quinten Mahieu (UGent) , Mattias Van Heetvelde (UGent) , Laila Jeddawi, Miriam Bauwens (UGent) and Elfride De Baere (UGent)

(2024) CLINICAL GENETICS. 106(2). p.127-139

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HRAS-related epidermal nevus syndromes : expansion of the spectrum with first branchial arch defects

Aude Beyens (UGent) , Charlotte Lietaer, Kathleen Claes (UGent) , Elfride De Baere (UGent) , Marleen Goeteyn (UGent) , Bob Lerut, Hannes Syryn (UGent) , Olivier Vanakker (UGent) , Joni Van der Meulen (UGent) , Lieve Vanwalleghem, et al.

(2023) CLINICAL GENETICS. 103(6). p.709-713

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Journal Article
A1
open access

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

Maria B. Christensen, Amanda M. Levy, Nazanin A. Mohammadi, Marcello Niceta, Rauan Kaiyrzhanov, Maria Lisa Dentici, Chadi Al Alam, Viola Alesi, Valerie Benoit, Kailash P. Bhatia, et al.

(2022) CLINICAL GENETICS. 102(2). p.98-109

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Cutis laxa : a comprehensive overview of clinical characteristics and pathophysiology

Aude Beyens (UGent) , Annekatrien Boel (UGent) , Sofie Symoens (UGent) and Bert Callewaert (UGent)

(2021) CLINICAL GENETICS. 99(1). p.53-66

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Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features

Candy Kumps (UGent) , Erika D'haenens (UGent) , Sarah Vergult (UGent) , Jasmine Leus, Rudy Van Coster (UGent) , Anna Jansen, Koen Devriendt, Anna Oostra (UGent) and Olivier Vanakker (UGent)

(2021) CLINICAL GENETICS. 99(3). p.449-456

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Missing heritability in Bloom syndrome : first report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene

Lynn Backers (UGent) , Bram Parton (UGent) , Marieke De Bruyne (UGent) , Simon Tavernier (UGent) , Kris Van Den Bogaert, Bart Lambrecht (UGent) , Filomeen Haerynck (UGent) and Kathleen Claes (UGent)

(2021) CLINICAL GENETICS. 99(2). p.292-297

Academic Bibliography

Expanding the genetic landscape of Usher syndrome type IV caused by pathogenic ARSG variants

Unexpected high prevalence of focal facial dermal dysplasia (FFDD) type IV is linked to a founder effect in the Belgian population

Unraveling the genetic landscape of foot arch morphology : a systematic review of single nucleotide polymorphisms

In memory of Ludwine Messiaen, Ph.D. (1956-2024)

Autozygome-guided exome-first study in a consanguineous cohort with early-onset retinal disease uncovers an isolated RIMS2 phenotype and a retina-enriched RIMS2 isoform

HRAS-related epidermal nevus syndromes : expansion of the spectrum with first branchial arch defects

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

Cutis laxa : a comprehensive overview of clinical characteristics and pathophysiology

Phenotypic spectrum of the RBM10-mediated intellectual disability and congenital malformation syndrome beyond classic TARP syndrome features

Missing heritability in Bloom syndrome : first report of a deep intronic variant leading to pseudo‐exon activation in the BLM gene

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