Academic Bibliography

Search 200 years of publications by Ghent University researchers.

Nika Schuermans

Ghent University Hospital

Work address: Medische Genetica / K5 C. Heymanslaan 10
9000 Gent
Email: Nika.Schuermans@UGent.be

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- Journal Article
- open access
Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders

Nika Schuermans (UGent) , Hannah Verdin (UGent) , Jody Ghijsels (UGent) , Madeleine Hellemans, Elke Debackere (UGent) , Elke Bogaert (UGent) , Sofie Symoens (UGent) , Leslie Naesens (UGent) , Elien Lecomte, David Crosiers, et al.

(2023) Neurology Genetics. 9(3).
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- A1
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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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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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- Miscellaneous
Marked hypotonia : an additional feature of ANO3-related movement disorder

Patrick Santens (UGent) , Arnout Bruggeman (UGent) , Nika Schuermans (UGent) , Hannah Verdin (UGent) and Bart Dermaut (UGent)

(2022) EUROPEAN JOURNAL OF MEDICAL GENETICS. 65(12).
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- Conference Paper
- C3
- open access
A structural variant of the C-terminal prion-like domain of TDP-43 causes vacuolar muscle degeneration

Pedro Ervilha Pereira (UGent) , Nika Schuermans (UGent) , Antoon Meylemans, Pontus LeBlanc (UGent) , L Versluys, Elke Debackere (UGent) , Olivier Vanakker (UGent) , Sara Janssens, Jonathan Baets, K Verhoeven, et al.

(2022) JOURNAL OF NEUROMUSCULAR DISEASES. In Journal of Neuromuscular Diseases 9(supplement 1). p.S119-S119
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- Conference Paper
- C3
Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3

Nika Schuermans (UGent) , Salima El Chehadeh, Dimitri Hemelsoet (UGent) , Elke Bogaert (UGent) , Elke Debackere (UGent) , Pascale Hilbert, Nike Van Doninck, Marie-Caroline Taquet, Toon Rosseel (UGent) , Griet De Clercq (UGent) , et al.

(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.80-80
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- Journal Article
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- open access
Expanding the TDP-43 proteinopathy pathway from neurons to muscle : physiological and pathophysiological functions

Lauren Versluys (UGent) , Pedro Ervilha Pereira (UGent) , Nika Schuermans (UGent) , Boel De Paepe (UGent) , Jan De Bleecker (UGent) , Elke Bogaert (UGent) and Bart Dermaut (UGent)

(2022) FRONTIERS IN NEUROSCIENCE. 16.
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- Journal Article
- A1
- open access
Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)

Nika Schuermans (UGent) , Dimitri Hemelsoet (UGent) , Wim Terryn, Sanne Steyaert (UGent) , Rudy Van Coster (UGent) , Paul Coucke (UGent) , Wouter Steyaert, Bert Callewaert (UGent) , Elke Bogaert (UGent) , Patrick Verloo (UGent) , et al.

(2022) ORPHANET JOURNAL OF RARE DISEASES. 17(1).
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Vernieuwende postoperatieve wondverbanden bij een totale knieprothese : vergelijkende studie van Aquacel Surgical, Opsite Visible en Mepilex Border

Andreas Dobbelaere, Nika Schuermans (UGent) , Steven Smet (UGent) and Jan Victor (UGent)

(2015) TIJDSCHRIFT VOOR GENEESKUNDE. 71(11). p.729-736
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Comparative study of innovative postoperative wound dressings after total knee arthroplasty

Andreas Dobbelaere, Nika Schuermans (UGent) , Steven Smet (UGent) , Catherine Van Der Straeten (UGent) and Jan Victor (UGent)

(2015) ACTA ORTHOPAEDICA BELGICA. 81(3). p.454-461