Ghent University Academic Bibliography

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Prenatal Shwachman‐Diamond Syndrome : diagnostic challenges in two unrelated cases with a rare clinical presentation and pseudogene interference, and a review of the literature

Nathalie Vanden Eynde, Ileen Slegers, Elise Vantroys, Sofie Symoens (UGent) , Elisa Doné, Anniek Vorsselmans, Astrid Leus, Stefanie Brock, Kathelijn Keymolen, Frederik Jan Hes, et al.

(2026) PRENATAL DIAGNOSIS. 46(2). p.270-276
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- Conference Paper
- C3
- open access
When the phenotype is more severe than expected : coexistence of X-linked and dominant ichthyosis in an African patient

Kim van Berkel, Nathalie Vanden Eynde, Sophie Golstein, Ann Van Den Bogaert, Boyan Dimitrov, Sophie Lecomte, Fransiska Malfait (UGent) and Joelle Rabinowitch

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 1). p.402-402
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- Journal Article
- A1
- open access
Population screening for 15q11-q13 duplications : corroboration of the difference in impact between maternally and paternally inherited alleles

Ilse Parijs, Nathalie Brison, Leen Vancoillie, Machteld Baetens (UGent) , Bettina Blaumeiser, Sébastien Boulanger, Julie Désir, Boyan Dimitrov, Nathalie Fieremans, Katrien Janssens, et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. 32(1). p.31-36
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- Journal Article
- A1
- open access
Pregnancy termination at a viable stage in daily clinical practice : a nationwide mortality follow‐back study in Flanders, Belgium

Ellen Roets (UGent) , Kim Beernaert (UGent) , Kenneth Chambaere (UGent) , Luc Deliens (UGent) , Kim van Berkel, Luc De Catte, Sophie Vanhaesebrouck (UGent) , Kristien Roelens (UGent) and Laure Dombrecht (UGent)

(2023) PRENATAL DIAGNOSIS. 43(6). p.781-791
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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

Academic Bibliography

Prenatal Shwachman‐Diamond Syndrome : diagnostic challenges in two unrelated cases with a rare clinical presentation and pseudogene interference, and a review of the literature

When the phenotype is more severe than expected : coexistence of X-linked and dominant ichthyosis in an African patient

Population screening for 15q11-q13 duplications : corroboration of the difference in impact between maternally and paternally inherited alleles

Pregnancy termination at a viable stage in daily clinical practice : a nationwide mortality follow‐back study in Flanders, Belgium

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

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