Ghent University Academic Bibliography

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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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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Feather gene expression elucidates the developmental basis of plumage iridescence in African starlings

Dustin R Rubenstein, André Corvelo, Matthew D. MacManes, Rafael Maia, Giuseppe Narzisi, Anastasia Rousaki (UGent) , Peter Vandenabeele (UGent) , Matthew Shawkey (UGent) and Joseph Solomon

(2021) JOURNAL OF HEREDITY. 112(5). p.417-429

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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

Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia

Penelope J. Ireland, Ravi Savarirayan, Tash Pocovi, Tracy Tate, Marie Coussens (UGent) , Louise Tofts, Craig Munns and Verity Pacey

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

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Journal Article
A1
open access

Pragmatic language in children and adolescents with autism spectrum disorder : do theory of mind and executive functions have a mediating role?

Ramona Cardillo, Irene C. Mammarella, Ellen Demurie (UGent) , David Giofrè and Herbert Roeyers (UGent)

(2021) AUTISM RESEARCH. 14(5). p.932-945

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Journal Article
A1
open access

Belgian rare diseases plan in clinical pathology : identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions

Nathalie M. Vandevelde, Pieter Vermeersch, Katrien Devreese (UGent) , Marie-Françoise Vincent, Béatrice Gulbis, François Eyskens, François Boemer, André Gothot, Viviane O. Van Hoof, Carolien Bonroy (UGent) , et al.

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

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Journal Article
A1
open access

Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer

Honglin Song, Ed M Dicks, Jonathan Tyrer, Maria Intermaggio, Georgia Chenevix-Trench, David D Bowtell, Nadia Traficante, AOCS Group, James Brenton, Teodora Goranova, et al.

(2021) JOURNAL OF MEDICAL GENETICS. 58(5). p.305-313

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Journal Article
A1
open access

Low immunogenicity of common cancer hot spot mutations resulting in false immunogenic selection signals

Arne Claeys (UGent) , Tom Luijts (UGent) , Kathleen Marchal (UGent) and Jimmy Van den Eynden (UGent)

(2021) PLOS Genetics. 17(2).

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Journal Article
A1
open access

Enrichment of circulating trophoblasts from maternal blood using laminar microscale vortices

Ann-Sophie Vander Plaetsen, Jana Weymaere, Olivier Tytgat, Magaly Buyle (UGent) , Dieter Deforce (UGent) and Filip Van Nieuwerburgh (UGent)

(2021) PRENATAL DIAGNOSIS. 41(9). p.1171-1178

Academic Bibliography

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

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

Feather gene expression elucidates the developmental basis of plumage iridescence in African starlings

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

Development of the Screening Tool for Everyday Mobility and Symptoms (STEMS) for skeletal dysplasia

Pragmatic language in children and adolescents with autism spectrum disorder : do theory of mind and executive functions have a mediating role?

Belgian rare diseases plan in clinical pathology : identification of key biochemical diagnostic tests and establishment of reference laboratories and financing conditions

Population-based targeted sequencing of 54 candidate genes identifies PALB2 as a susceptibility gene for high-grade serous ovarian cancer

Low immunogenicity of common cancer hot spot mutations resulting in false immunogenic selection signals

Enrichment of circulating trophoblasts from maternal blood using laminar microscale vortices

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