Ghent University Academic Bibliography

Implementation of fetal clinical exome sequencing : comparing prospective and retrospective cohorts

Martina Marangoni, Guillaume Smits, Gilles Ceysens, Elena Costa, Robert Coulon, Caroline Daelemans, Caroline De Coninck, Sara Derisbourg, Kalina Gajewska, Giulia Garofalo, et al.

(2022) GENETICS IN MEDICINE. 24(2). p.344-363

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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. 23(6). p.1137-1142

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Journal Article
A1
open access

Galactokinase deficiency : lessons from the GalNet registry

M. Estela Rubio-Gozalbo, Britt Derks, Anibh Martin Das, Uta Meyer, Dorothea Möslinger, M. Luz Couce, Aurélie Empain, Can Ficicioglu, Natalia Juliá Palacios, Mariela M. De Los Santos De Pelegrin, et al.

(2021) GENETICS IN MEDICINE. 23(1). p.202-210

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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.

(2021) GENETICS IN MEDICINE. 23(1). p.111-122

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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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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 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

The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

Inge M. M. Lakeman, Alexandra J. van den Broek, Julien A. M. Vos, Daniel R. Barnes, Julian Adlard, Irene L. Andrulis, Adalgeir Arason, Norbert Arnold, Banu K. Arun, Judith Balmana, et al.

(2021) GENETICS IN MEDICINE. 23(9). p.1726-1737

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Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen

Tibbe Dhooge (UGent) , Delfien Syx (UGent) , Trinh Hermanns-Lê, Ingrid Hausser, Geert Mortier, Jonathan Zonana, Sofie Symoens (UGent) , Peter H. Byers and Fransiska Malfait (UGent)

(2021) GENETICS IN MEDICINE. 23(12). p.2378-2385

Academic Bibliography

Implementation of fetal clinical exome sequencing : comparing prospective and retrospective cohorts

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Galactokinase deficiency : lessons from the GalNet registry

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

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

Interpreting the impact of noncoding structural variation in neurodevelopmental disorders

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

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

The predictive ability of the 313 variant-based polygenic risk score for contralateral breast cancer risk prediction in women of European ancestry with a heterozygous BRCA1 or BRCA2 pathogenic variant

Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen

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