Ghent University Academic Bibliography

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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ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder

Stephanie Oates, Michael Absoud, Sushma Goyal, Sophie Bayley, Jennifer Baulcomb, Annemarie Sims, Amy Riddett, Katrina Allis, Charlotte Brasch-Andersen, Meena Balasubramanian, et al.

(2021) CLINICAL GENETICS. 100(4). p.412-429

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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

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Journal Article
A1
open access

IQSEC2 disorder : a new disease entity or a Rett spectrum continuum?

Diego Lopergolo, Flavia Privitera, Giuseppe Castello, Caterina Lo Rizzo, Maria Antonietta Mencarelli, Anna Maria Pinto, Francesca Ariani, Aurora Currò, Vittoria Lamacchia, Roberto Canitano, et al.

(2021) CLINICAL GENETICS. 99(3). p.462-474

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Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants

Eva Jacobs, Kathleen Brown, Melissa C. Byler, Erika D'haenens (UGent) , Annelies Dheedene (UGent) , Lindsay B. Henderson, Jennifer B. Humberson, Richard H. Jaarsveld, Farah Kanani, Robert Roger Lebel, et al.

(2021) CLINICAL GENETICS. 99(2). p.259-268

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

Candy Kumps, 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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Severe congenital cutis laxa : Identification of novel homozygous LOX gene variants in two families

Fiona McKenzie, Kym Mina, Bert Callewaert (UGent) , Aude Beyens (UGent) , Jan E. Dickinson, Gareth Jevon, John Papadimitriou, Birgitte Rode Diness, Jesper Norman Steensberg, Jakob Ek, et al.

(2021) CLINICAL GENETICS. 100(2). p.168-175

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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

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Otological manifestations in branchiootorenal spectrum disorder : a systematic review and meta-analysis

A Chen, J Song, Frederic Acke (UGent) , L Mei, X Cai, Y Feng and C He

(2021) CLINICAL GENETICS. 100(1). p.3-13

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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

Academic Bibliography

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

ZMYND11 variants are a novel cause of centrotemporal and generalised epilepsies with neurodevelopmental disorder

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

IQSEC2 disorder : a new disease entity or a Rett spectrum continuum?

Expanding the molecular spectrum and the neurological phenotype related to CAMTA1 variants

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

Severe congenital cutis laxa : Identification of novel homozygous LOX gene variants in two families

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

Otological manifestations in branchiootorenal spectrum disorder : a systematic review and meta-analysis

Cutis laxa : a comprehensive overview of clinical characteristics and pathophysiology

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