Ghent University Academic Bibliography

Your filters: cql: author="Blaumeiser, Bettina" or (type any "bookEditor issueEditor" and editor="Blaumeiser, Bettina")

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- Journal Article
- A1
- open access
Congenital hydrocephalus : new Mendelian mutations and evidence for oligogenic inheritance

Valerie Jacquemin, Nassim Versbraegen, Sarah Duerinckx, Annick Massart, Julie Soblet, Camille Perazzolo, Nicolas Deconinck (UGent) , Elise Brischoux-Boucher, Anne De Leener, Nicole Revencu, et al.

(2023) HUMAN GENOMICS. 17(1).
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- Journal Article
- A2
- open access
Tetrasomy 9p, a prenatal challenge : two novel cases

Mahtab Zaghi, Katrien Janssens, Wim Hectors (UGent) , Philip Loquet and Bettina Blaumeiser

(2022) REPRODUCTIVE MEDICINE. 3(1). p.42-49
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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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- Conference Paper
- C3
Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients

Greet Wieme (UGent) , Jan Kral, Toon Rosseel (UGent) , Petra Zemankova, Bram Parton (UGent) , Michal Vocka, Mattias Van Heetvelde (UGent) , Petra Kleiblova, Bettina Blaumeiser, Jana Soukupova, et al.

(2021) OncoDot.3 symposium, Abstracts.
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- Journal Article
- A1
- open access
Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients

Greet Wieme (UGent) , Jan Kral, Toon Rosseel (UGent) , Petra Zemankova, Bram Parton (UGent) , Michal Vocka, Mattias Van Heetvelde (UGent) , Petra Kleiblova, Bettina Blaumeiser, Jana Soukupova, et al.

(2021) CANCERS. 13(17).
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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
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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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- Conference Paper
- C3
Analysis of patients with a personal and/or family history of pancreatic cancer with a custom designed broad cancer predisposition gene panel

Greet Wieme (UGent) , Toon Rosseel (UGent) , Bram Parton (UGent) , Bettina Blaumeiser, Sabine Tejpar, Bruce Poppe (UGent) , Kim De Leeneer (UGent) and Kathleen Claes (UGent)

(2019) EUROPEAN JOURNAL OF HUMAN GENETICS. 27(2). p.1593-1593

Academic Bibliography

Congenital hydrocephalus : new Mendelian mutations and evidence for oligogenic inheritance

Tetrasomy 9p, a prenatal challenge : two novel cases

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

Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients

Prevalence of germline pathogenic variants in cancer predisposing genes in Czech and Belgian pancreatic cancer patients

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

Analysis of patients with a personal and/or family history of pancreatic cancer with a custom designed broad cancer predisposition gene panel

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