Ghent University Academic Bibliography

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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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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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- Journal Article
- A1
- open access
Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

Sarah Duerinckx, Julie Désir, Camille Perazzolo, Cindy Badoer, Valérie Jacquemin, Julie Soblet, Isabelle Maystadt, Yusuf Tunca, Bettina Blaumeiser, Berten Ceulemans, et al.

(2021) MOLECULAR GENETICS & GENOMIC MEDICINE. 9(9).
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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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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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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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Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation

Julie Désir, Marie Cassart, Catherine Donner, Paul Coucke (UGent) , Marc Abramowicz and Geert Mortier (UGent)

(2012) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 158A(8). p.1948-1952
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- Journal Article
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- open access
TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy

Julie Désir, Frauke Coppieters (UGent) , Nicole van Regemorter, Elfride De Baere (UGent) , Marc Abramowicz and Monique Cordonnier

(2012) MOLECULAR VISION. 18(191). p.1849-1857

Academic Bibliography

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

Outcome of publicly funded nationwide first-tier noninvasive prenatal screening

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

Phenotypes and genotypes in non‐consanguineous and consanguineous primary microcephaly : high incidence of epilepsy

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

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

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

Spondyloperipheral dysplasia as the mosaic form of platyspondylic lethal skeletal dyplasia torrance type in mother and fetus with the same COL2A1 mutation

TMEM126A mutation in a Moroccan family with autosomal recessive optic atrophy

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