Ghent University Academic Bibliography

Journal Article
A1
open access

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

Anne-Sophie Denommé-Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti, Siddharth Banka, Ange-Line Bruel, Andrea Ciolfi, Jill Clayton-Smith, Bruno Dallapiccola, et al.

(2023) GENETICS IN MEDICINE. 25(4).

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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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Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement

Lucia Micale, Silvia Morlino, Annalucia Carbone, Annamaria Carissimo, Grazia Nardella, Carmela Fusco, Orazio Palumbo, Annalisa Schirizzi, Federica Russo, Gianluigi Mazzoccoli, et al.

(2022) GENETICS IN MEDICINE. 24(2). p.439-453

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Journal Article
A1
open access

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

Reem Al-Jawahiri, Aidin Foroutan, Jennifer Kerkhof, Haley McConkey, Michael Levy, Sadegheh Haghshenas, Kathleen Rooney, Jasmin Turner, Debbie Shears, Muriel Holder, et al.

(2022) GENETICS IN MEDICINE. 24(6). p.1261-1273

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

Tibbe Dhooge, 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

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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

Academic Bibliography

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

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

Loss-of-function variants in exon 4 of TAB2 cause a recognizable multisystem disorder with cardiovascular, facial, cutaneous, and musculoskeletal involvement

SOX11 variants cause a neurodevelopmental disorder with infrequent ocular malformations and hypogonadotropic hypogonadism and with distinct DNA methylation profile

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

Galactokinase deficiency : lessons from the GalNet registry

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

Interpreting the impact of noncoding structural variation in neurodevelopmental disorders

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

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

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