Ghent University Academic Bibliography

Journal Article
open access

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Kris Van den Bogaert, Lore Lannoo, Nathalie Brison, Vincent Gatinois, Machteld Baetens (UGent) , Bettina Blaumeiser, Francois Boemer, Laura Bourlard, Vincent Bours, Anne De Leener, et al.

(2021) GENETICS IN MEDICINE.

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Journal Article

Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc

Shana Verschuere (UGent) , Nastassia Navassiolava, Ludovic Martin, Pasi I. Nevalainen, Paul Coucke (UGent) and Olivier Vanakker (UGent)

(2021) GENETICS IN MEDICINE. 23(1). p.131-139

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Journal Article
A1
open access

Interpreting the impact of noncoding structural variation in neurodevelopmental disorders

Eva D'haene (UGent) and Sarah Vergult (UGent)

(2021) GENETICS IN MEDICINE. 23(1). p.34-46

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A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations

BM Wenger, N Patel, M Lui, A Moscati, R Do, DR Stewart, M Tartaglia, Laura Muiño Mosquera (UGent) , Julie De Backer (UGent) , AR Kontorovich, et al.

(2021) GENETICS IN MEDICINE. 23. p.94-102

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Journal Article
A1
open access

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

Theresa Brunet, Kirsty McWalter, Katharina Mayerhanser, Grace M. Anbouba, Amy Armstrong-Javors, Ingrid Bader, Evan Baugh, Amber Begtrup, Caleb P. Bupp, Bert Callewaert (UGent) , et al.

(2021) GENETICS IN MEDICINE. 23(2). p.384-395

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A clinical scoring system for congenital contractural arachnodactyly

Ilse Meerschaut (UGent) , Shana De Coninck, Wouter Steyaert (UGent) , Angela Barnicoat, Allan Bayat, Francesco Benedicenti, Siren Berland, Edward M. Blair, Jeroen Breckpot, Anna de Burca, et al.

(2020) GENETICS IN MEDICINE. 22(1). p.124-131

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Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

Sarah Delbaere (UGent) , Tibbe Dhooge (UGent) , Delfien Syx (UGent) , Florence Petit, Nathalie Goemans, Anne Destrée, Olivier Vanakker (UGent) , Riet De Rycke (UGent) , Sofie Symoens (UGent) and Fransiska Malfait (UGent)

(2020) GENETICS IN MEDICINE. 22(1). p.112-123

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Journal Article
A1
open access

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm

Sandy Elbitar, Marjolijn Renard (UGent) , Pauline Arnaud, Nadine Hanna, Marie-Paule Jacob, Dong-Chuan Guo, Ko Tsutsui, Marie-Sylvie Gross, Ketty Kessler, Laurent Tosolini, et al.

(2020) GENETICS IN MEDICINE.

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Journal Article
A1
open access

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

Daniel R. Barnes, Matti A. Rookus, Lesley McGuffog, Goska Leslie, Thea M. Mooij, Joe Dennis, Nasim Mavaddat, Julian Adlard, Munaza Ahmed, Kristiina Aittomäki, et al.

(2020) GENETICS IN MEDICINE. 22(10). p.1653-1666

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Journal Article
A1
open access

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

Miriam Bauwens (UGent) , Alejandro Garanto, Riccardo Sangermano, Sarah Naessens (UGent) , Nicole Weisschuh, Julie De Zaeytijd (UGent) , Mubeen Khan, Françoise Sadler, Irina Balikova (UGent) , Caroline Van Cauwenbergh (UGent) , et al.

(2019) GENETICS IN MEDICINE. 21(8). p.1761-1771

Academic Bibliography

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Reassessment of causality of ABCC6 missense variants associated with pseudoxanthoma elasticum based on Sherloc

Interpreting the impact of noncoding structural variation in neurodevelopmental disorders

A genotype-first approach to exploring Mendelian cardiovascular traits with clear external manifestations

Defining the genotypic and phenotypic spectrum of X-linked MSL3-related disorder

A clinical scoring system for congenital contractural arachnodactyly

Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix

Pathogenic variants in THSD4, encoding the ADAMTS-like 6 protein, predispose to inherited thoracic aortic aneurysm

Polygenic risk scores and breast and epithelial ovarian cancer risks for carriers of BRCA1 and BRCA2 pathogenic variants

ABCA4-associated disease as a model for missing heritability in autosomal recessive disorders : novel noncoding splice, cis-regulatory, structural, and recurrent hypomorphic variants

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