Ghent University Academic Bibliography

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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, et al.

(2023) HUMAN GENOMICS. 17(1).
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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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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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Performance and diagnostic value of genome-wide noninvasive prenatal testing in multiple gestations

Margot van Riel, Nathalie Brison, Machteld Baetens (UGent) , Bettina Blaumeiser, Francois Boemer, Laura Bourlard, Saskia Bulk, Anne De Leener, Julie Desir, Koenraad Devriendt, et al.

(2021) OBSTETRICS AND GYNECOLOGY. 137(6). p.1102-1108
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- Conference Paper
- C3
Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD)

Hannah Verdin (UGent) , Toon Rosseel (UGent) , Sascha Vermeer, Irina Balikova (UGent) , Philippe Kestelyn (UGent) , Colombine Meunier, Françoise Meire (UGent) , Julie Van De Velde (UGent) , Olivier Vanakker (UGent) , Jenneke Van Den Ende, et al.

(2020) Belgian Society for Human Genetics, 20th Annual meeting, Abstracts.
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Prenatally detected copy number variants in a national cohort : a postnatal follow-up study

Joke Muys, Yves Jacquemyn, Bettina Blaumeiser, Laura Bourlard, Nathalie Brison, Saskia Bulk, Patrizia Chiarappa, Anne De Leener, Marjan De Rademaeker, Julie Desir, et al.

(2020) PRENATAL DIAGNOSIS. 40(10). p.1272-1283
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- Conference Paper
- C3
Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease

Miriam Bauwens (UGent) , Sarah Naessens, Caroline Van Cauwenbergh (UGent) , Thalia Van Laethem (UGent) , Sarah De Jaegere (UGent) , Irina Balikova (UGent) , Yves Sznajer, Julie De Zaeytijd (UGent) , Bart Leroy (UGent) and Elfride De Baere (UGent)

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(1). p.42-43
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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, 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
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The Belgian MicroArray Prenatal (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations

Joke Muys, Bettina Blaumeiser, Yves Jacquemyn, Claude Bandelier, Nathalie Brison, Saskia Bulk, Patrizia Chiarappa, Winnie Courtens, Anne De Leener, Marjan De Rademaeker, et al.

(2018) PRENATAL DIAGNOSIS. 38(13). p.1120-1128
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'De novo' Col4A2 mutation in a patient with migraine, leukoencephalopathy, and small carotid aneurysms

Paul Kollmann, André Peeters, Olivier Vanakker (UGent) and Yves Sznajer

(2016) JOURNAL OF NEUROLOGY. 263(11). p.2327-2329
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Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

Przemyslaw Szafranski, Tomasz Gambin, Avinash V Dharmadhikari, Kadir Caner Akdemir, Shalini N Jhangiani, Jennifer Schuette, Nihal Godiwala, Svetlana A Yatsenko, Jessica Sebastian, Suneeta Madan-Khetarpal, et al.

(2016) HUMAN GENETICS. 135(5). p.569-586
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The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects

Yaojuan Jia, Jacoba J Louw, Jeroen Breckpot, Bert Callewaert (UGent) , Catherine Barrea, Yves Sznajer, Marc Gewillig, Erika Souche, Luc Dehaspe, Joris Robert Vermeesch, et al.

(2015) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 167(8). p.1822-1829
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Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

Olivier Vanakker (UGent) , Catheline Vilain, Katrien Janssens, Nathalie Van der Aa, Guillaume Smits, Claude Bandelier, Bettina Blaumeiser, Saskia Bulk, Jean-Hubert Caberg, Anne De Leener, et al.

(2014) EUROPEAN JOURNAL OF MEDICAL GENETICS. 57(4). p.151-156
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Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

Sarah Vergult (UGent) , A Jeannette M Hoogeboom, Emilia K Bijlsma, Tom Sante (UGent) , Eva Klopocki, Bram De Wilde (UGent) , Marjolijn Jongmans, Christian Thiel, Joke BGM Verheij, Antonio Perez-Aytes, et al.

(2013) GENETICS IN MEDICINE. 15(3). p.195-202
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- Conference Paper
- C3
Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

Sarah Vergult (UGent) , Jeanette Hoogeboom, EK Bijlsma, Tom Sante (UGent) , Eva Klopocki, Bram De Wilde (UGent) , Marjolein Jongmans, Christian Thiel, J Verheij, A Perez-Aytes, et al.

(2012) Belgian Society of Human Genetics, 12th Annual meeting, Abstracts.
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- Conference Paper
- C3
Complex genetics of radial ray deficiencies: screening of a cohort of 50 patients

Sarah Vergult (UGent) , Jeanette Hoogeboom, EK Bijlsma, Tom Sante (UGent) , Eva Klopocki, Bram De Wilde (UGent) , Marjolein Jongmans, Christian Thiel, J Verheij, A Perez-Aytes, et al.

(2011) Human Genetics, 12th International congress, Abstracts.

Academic Bibliography

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

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

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

Performance and diagnostic value of genome-wide noninvasive prenatal testing in multiple gestations

Exome-based panel testing as an efficient method to diagnose the highly heterogeneous ocular disorder spectrum Microphthalmia, Anophthalmia, Coloboma and Anterior Segment Dysgenesis (MAC-ASD)

Prenatally detected copy number variants in a national cohort : a postnatal follow-up study

Coding and non-coding structural variants of ABCA4 contribute to the missing heritability in Stargardt disease, a prevalent inherited retinal disease

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

The Belgian MicroArray Prenatal (BEMAPRE) database : a systematic nationwide repository of fetal genomic aberrations

'De novo' Col4A2 mutation in a patient with migraine, leukoencephalopathy, and small carotid aneurysms

Pathogenetics of alveolar capillary dysplasia with misalignment of pulmonary veins

The diagnostic value of next generation sequencing in familial nonsyndromic congenital heart defects

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

Complex genetics of radial ray deficiencies: screening of a cohort of 54 patients

Complex genetics of radial ray deficiencies: screening of a cohort of 50 patients

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