Nika Schuermans

Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP)

Astrid Van den broecke, Alexander Decruyenaere (UGent) , Nika Schuermans (UGent) , Hannah Verdin (UGent) , Jody Ghijsels (UGent) , Anne Sieben, Bart Dermaut (UGent) and Dimitri Hemelsoet (UGent)

(2024) JOURNAL OF NEUROLOGY. 271. p.263-273

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From gastrointestinal enigma to genetic clarity : unraveling the MYH11 SM2 connection

Steven Callens (UGent) , Bart Dermaut (UGent) , Filomeen Haerynck (UGent) , Dimitri Hemelsoet (UGent) , Leslie Naessens, Bruce Poppe (UGent) , Sanne Steyaert (UGent) , Wim Terryn (UGent) , Arnaud Vanlander (UGent) , PATRICK VERLOO (UGent) , et al.

(2023) ACTA CLINICA BELGICA. In Acta Clinica Belgica 78(Supplement 1). p.11-12

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ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures

Elena Poggio, Lucia Barazzuol, Andrea Salmaso, Celeste Milani, Adamantia Deligiannopoulou, Ángeles García Cazorla, Se Song Jang, Natalia Juliá-Palacios, Boris Keren, Robert Kopajtich, et al.

(2023) GENETICS IN MEDICINE. 25(12).

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Phospholipid modifier PLAAT3 links defective PPARγ-dependent signaling to lipodystrophy

Bart Dermaut (UGent) and Nika Schuermans (UGent)

(2023) NATURE GENETICS. 55. p.1790-1791

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Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Burcu Yaldiz, Erdi Kucuk, Juliet Hampstead, Tom Hofste, Rolph Pfundt, Jordi Corominas Galbany, Tuula Rinne, Helger G. Yntema, Alexander Hoischen, Marcel Nelen, et al.

(2023) HUMAN GENOMICS. 17(1).

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Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

Nika Schuermans (UGent) , Salima El Chehadeh, Dimitri Hemelsoet (UGent) , Jérémie Gautheron, Marie-Christine Vantyghem, Sonia Nouioua, Meriem Tazir, Corinne Vigouroux, Martine Auclair, Elke Bogaert (UGent) , et al.

(2023) NATURE GENETICS. 55(11). p.1929-1940

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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 (UGent) , 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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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. 145. p.793-814

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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).

Academic Bibliography

Nika Schuermans

Pooled analysis of patients with inherited prion disease caused by two- to twelve-octapeptide repeat insertions in the prion protein gene (PRNP)

From gastrointestinal enigma to genetic clarity : unraveling the MYH11 SM2 connection

ATP2B2 de novo variants as a cause of variable neurodevelopmental disorders that feature dystonia, ataxia, intellectual disability, behavioral symptoms, and seizures

Phospholipid modifier PLAAT3 links defective PPARγ-dependent signaling to lipodystrophy

Twist exome capture allows for lower average sequence coverage in clinical exome sequencing

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

Exome sequencing and multigene panel testing in 1,411 patients with adult-onset neurologic disorders

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing

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

Marked hypotonia : an additional feature of ANO3-related movement disorder

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