Ghent University Academic Bibliography

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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Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

Mari Minatogawa, Ai Unzaki, Hiroko Morisaki, Delfien Syx (UGent) , Tohru Sonoda, Andreas R Janecke, Anne Slavotinek, Nicol C Voermans, Yves Lacassie, Roberto Mendoza-Londono, et al.

(2022) JOURNAL OF MEDICAL GENETICS. 59(9). p.865-877

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Journal Article
A1
open access

Lateral root initiation and the analysis of gene function using genome editing with CRISPR in Arabidopsis

Nick Vangheluwe (UGent) and Tom Beeckman (UGent)

(2021) GENES. 12(6).

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Caution against examining the role of reverse causality in Mendelian Randomization

Sharon M. Lutz, Ann Chen Wu, John E. Hokanson, Stijn Vansteelandt (UGent) and Christoph Lange

(2021) GENETIC EPIDEMIOLOGY. 45(5). p.445-454

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Miscellaneous
open access

Editorial: Personal genomes : accessing, sharing, and interpretation

Manuel Corpas, Stephan Beck, Gustavo Glusman and Mahsa Shabani (UGent)

(2021) FRONTIERS IN GENETICS. 12.

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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

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Journal Article
A1
open access

The need for widely available genomic testing in rare eye diseases : an ERN-EYE position statement

Graeme C. Black, [missing] ERN-EYE study group, Panagiotis Sergouniotis, Andrea Sodi, Bart Leroy (UGent) , Caroline Van Cauwenbergh, Petra Liskova, Karen Grønskov, Artur Klett, Susanne Kohl, et al.

(2021) ORPHANET JOURNAL OF RARE DISEASES. 16(1).

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Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene

Justine Vandeputte, Mattias Van Heetvelde (UGent) , Caroline Van Cauwenbergh, Sara Seneca, Elfride De Baere (UGent) , Bart Leroy (UGent) and Julie De Zaeytijd (UGent)

(2021) OPHTHALMIC GENETICS. 42(4). p.440-445

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Journal Article
A1
open access

Expanding the clinical spectrum and management of traboulsi syndrome : report on two siblings homozygous for a novel pathogenic variant in ASPH

Tom Van Hoorde, Fanny Nerinckx (UGent) , Elke O. Kreps (UGent) , Dimitri Roels (UGent) , Philippe Huyghe, Mattias Van Heetvelde (UGent) , Hannah Verdin (UGent) , Elfride De Baere (UGent) , Irina Balikova (UGent) and Bart Leroy (UGent)

(2021) OPHTHALMIC GENETICS. 42(4). p.493-499

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Journal Article
A1
open access

Pain in the Ehlers–Danlos syndromes : mechanisms, models, and challenges

Fransiska Malfait (UGent) , Marlies Colman (UGent) , Robin Vroman, Inge De Wandele (UGent) , Lies Rombaut (UGent) , Rachel E. Miller, Anne-Marie Malfait (UGent) and Delfien Syx (UGent)

(2021) AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS. 187(4). p.429-445

Academic Bibliography

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

Clinical and molecular features of 66 patients with musculocontractural Ehlers−Danlos syndrome caused by pathogenic variants in CHST14 (mcEDS-CHST14)

Lateral root initiation and the analysis of gene function using genome editing with CRISPR in Arabidopsis

Caution against examining the role of reverse causality in Mendelian Randomization

Editorial: Personal genomes : accessing, sharing, and interpretation

New variants and in silico analyses in GRK1 associated Oguchi disease

The need for widely available genomic testing in rare eye diseases : an ERN-EYE position statement

Mild Leber hereditary optic neuropathy (LHON) in a Western European family due to the rare Asian m.14502T>C variant in the MT-ND6 gene

Expanding the clinical spectrum and management of traboulsi syndrome : report on two siblings homozygous for a novel pathogenic variant in ASPH

Pain in the Ehlers–Danlos syndromes : mechanisms, models, and challenges

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