Academic Bibliography

Search 200 years of publications by Ghent University researchers.

prof. dr. Sandra Janssens

Work address: Medische Genetica / K5 C. Heymanslaan 10
9000 Gent
Email: SANDRA.JANSSENS@UGent.be
ORCID iD: 0000-0001-7262-3715

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C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD

Pedro Ervilha Pereira (UGent) , Nika Schuermans (UGent) , Antoon Meylemans, Pontus LeBlanc (UGent) , Lauren Versluys (UGent) , KE Copley, JD Rubien, C Altheimer, Myra Peetermans, Elke Debackere (UGent) , et al.

(2023) ACTA NEUROPATHOLOGICA.
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Negative molecular diagnostics in non-syndromic hearing loss : what next?

Thomas Clabout, Laurence Maes, Frederic Acke (UGent) , Wim Wuyts, Kristof Van Schil, Paul Coucke (UGent) , Sandra Janssens (UGent) and Els De Leenheer (UGent)

(2023) GENES. 14(1).
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Identification of codon 146 KRAS variants in isolated epidermal nevus and multiple lesions in oculoectodermal syndrome : confirmation of the phenotypic continuum of mosaic RASopathies

Aude Beyens (UGent) , Laure Dequeker, Hilde Brems, Sandra Janssens (UGent) , Hannes Syryn (UGent) , Anne D’Hooghe, Pascale De Paepe, Lieve Vanwalleghem, Annelies Stockman, Elena Vankwikelberge, et al.

(2022) INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES. 23(7).
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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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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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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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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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Clinical spectrum of individuals with pathogenic NF1 missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423 : genotype-phenotype study in neurofibromatosis type 1

Magdalena Koczkowska, Tom Callens, Yunjia Chen, Alicia Gomes, Alesha D. Hicks, Angela Sharp, Eric Johns, Kim Armfield Uhas, Linlea Armstrong, Katherine Armstrong Bosanko, et al.

(2020) HUMAN MUTATION. 41(1). p.299-315
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- Miscellaneous
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype–phenotype correlation

Magdalena Koczkowska, Tom Callens, Alicia Gomes, Angela Sharp, Yunjia Chen, Alesha D. Hicks, Arthur S. Aylsworth, Amedeo A. Azizi, Donald G. Basel, Gary Bellus, et al.

(2019) GENETICS IN MEDICINE. 21(3). p.764-765
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Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum

Ilse Meerschaut (UGent) , Aude Beyens (UGent) , Wouter Steyaert (UGent) , Riet De Rycke (UGent) , Katrien Bonte, Tine De Backer (UGent) , Sandra Janssens (UGent) , Joseph Panzer (UGent) , Frank Plasschaert (UGent) , Daniël De Wolf (UGent) , et al.

(2019) AMERICAN JOURNAL OF MEDICAL GENETICS PART A. 179(12). p.2494-2499

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