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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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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Journal Article
A1
open access

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

Genetic basis of hypsarrhythmia : expanding the PHACTR1 spectrum and pathway to targeted therapy

Karen Willième (UGent) , Annelies Dheedene (UGent) , Arnaud Vanlander (UGent) , PATRICK VERLOO (UGent) and Helene Verhelst (UGent)

(2025) CLINICAL GENETICS. 108(5). p.612-614

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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, 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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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

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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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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Two cases of DCDC2‐related neonatal sclerosing cholangitis with developmental delay and literature review

Hannes Syryn (UGent) , Anne Hoorens (UGent) , Tassos Grammatikopoulos, Maesha Deheragoda, Sofie Symoens (UGent) , Saskia Vande Velde (UGent) , Stephanie Van Biervliet (UGent) , Myriam Van Winckel (UGent) , PATRICK VERLOO (UGent) , Bert Callewaert (UGent) , et al.

(2021) CLINICAL GENETICS. 100(4). p.447-452

Academic Bibliography

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

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

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

Genetic basis of hypsarrhythmia : expanding the PHACTR1 spectrum and pathway to targeted therapy

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

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

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

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

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

Two cases of DCDC2‐related neonatal sclerosing cholangitis with developmental delay and literature review

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