Ghent University Academic Bibliography

Journal Article
A1
open access

Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve

Helene DiGregorio, Sara Mansoorshahi, Steven G Carlisle, Catherina Tovar Pensa, Abi Watts, Courtney McNeely, Anna Sabate-Rotes, Anji Yetman, Hector I Michelena, Julie De Backer (UGent) , et al.

(2025) HEART. 111(5). p.221-229

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A1
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Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

Pascale Sabeh, Samantha A. Dumas, Claudia Maios, Hiba Daghar, Marek Korzeniowski, Justine Rousseau, Matthew Lines, Andrea Guerin, John J. Millichap, Megan Landsverk, et al.

(2025) AMERICAN JOURNAL OF HUMAN GENETICS. 112(1). p.75-86

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Journal Article
A1
open access

Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model

Tamara Jarayseh (UGent) , Sophie Debaenst (UGent) , Hanna De Saffel (UGent) , Toon Rosseel (UGent) , Mauro Alessio Milazzo (UGent) , Jan Willem Bek (UGent) , David M Hudson, Filip Van Nieuwerburgh (UGent) , Yannick Gansemans (UGent) , Iván Josipovic (UGent) , et al.

(2024) JOURNAL OF BONE AND MINERAL RESEARCH. 40(1). p.154-166

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A1
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Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve

Steven G. Carlisle, Hasan Albasha, Hector I. Michelena, Anna Sabate-Rotes, Lisa Bianco, Julie De Backer (UGent) , Laura Muiño Mosquera (UGent) , Anji T. Yetman, Malenka M. Bissell, Maria Grazia Andreassi, et al.

(2024) PLOS ONE. 19(9).

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Journal Article
A1
open access

Notes on register variation and subject ellipsis in coordination

Laura Bailey, Liliane Haegeman (UGent) and David Hornsby

(2023) REVUE ROUMAINE DE LINGUISTIQUE-ROMANIAN REVIEW OF LINGUISTICS. 68(1-2). p.41-52

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Journal Article
A1
open access

Myostatin mutation causing double muscling could affect increased psoroptic mange sensitivity in dual purpose Belgian Blue cattle

R. Meyermans, S. Janssens, A. Coussé, W. Gorssen, X. Hubin, P. Mayeres, W. Veulemans, Edwin Claerebout (UGent) , C. Charlier and N. Buys

(2022) ANIMAL. 16(3).

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Journal Article
A1
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A nonsense variant in the DMD gene causes X-linked muscular dystrophy in the Maine coon cat

Evy Beckers, Ine Cornelis (UGent) , Sofie Bhatti (UGent) , Pascale Smets (UGent) , G. Diane Shelton, Ling T. Guo, Luc Peelman (UGent) and Bart Broeckx (UGent)

(2022) ANIMALS. 12(21).

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A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis

Allan Thomas Højland, Lisse J. M. Tavernier, Isabelle Schrauwen, Manou Sommen, Vedat Topsakal, Isabelle Schatteman, Ingeborg Dhooge (UGent) , Alex Huber, Diego Zanetti, Henricus P. M. Kunst, et al.

(2022) HUMAN GENETICS. 141. p.951-963

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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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Journal Article
A1
open access

New variants and in silico analyses in GRK1 associated Oguchi disease

James A. Poulter, Molly S. C. Gravett, Rachel L. Taylor, Kaoru Fujinami, Julie De Zaeytijd (UGent) , James Bellingham, Atta Ur Rehman, Takaaki Hayashi, Mineo Kondo, Abdur Rehman, et al.

(2021) HUMAN MUTATION. 42(2). p.164-176

Academic Bibliography

Contribution of rare chromosome 22q11.2 copy number variants to non-syndromic bicuspid aortic valve

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

Bmpr1aa modulates the severity of the skeletal phenotype in an fkbp10-deficient Bruck syndrome zebrafish model

Rare genomic copy number variants implicate new candidate genes for bicuspid aortic valve

Notes on register variation and subject ellipsis in coordination

Myostatin mutation causing double muscling could affect increased psoroptic mange sensitivity in dual purpose Belgian Blue cattle

A nonsense variant in the DMD gene causes X-linked muscular dystrophy in the Maine coon cat

A wide range of protective and predisposing variants in aggrecan influence the susceptibility for otosclerosis

Biallelic variants in ZNF142 lead to a syndromic neurodevelopmental disorder

New variants and in silico analyses in GRK1 associated Oguchi disease

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