Nika Schuermans

PhD Thesis

Identifying genetic causes of unexplained rare neurological disorders

Nika Schuermans (UGent)

(2025)

Getting close to RNF216 : proximity labeling reveals links between nuclear condensates, splicing and neurodegeneration

Lauren Versluys (UGent) , Axelle Versavel (UGent) , Lotte Keymeulen (UGent) , Anne Sieben, Nika Schuermans (UGent) , Elisabeth Mondragon Rezola, Patrick Santens (UGent) , Jo Van Dorpe (UGent) , Francis Impens (UGent) , Sven Eyckerman (UGent) , et al.

(2025) BSN Meeting 2025, Abstracts.

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Journal Article
A1
open access

Case report : recurrent catatonia in a patient with 17p13.3 microduplication syndrome

Ilya Querter, Nika Schuermans (UGent) , Nele Van de Velde (UGent) , Cisse Geleyn (UGent) , Annelies Dheedene (UGent) , Kurt Audenaert (UGent) , Chris Baeken (UGent) , Bert Callewaert (UGent) and Gilbert Lemmens (UGent)

(2025) FRONTIERS IN PSYCHIATRY. 16.

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A1
open access

Cracking rare disorders : a new minimally invasive RNA-seq protocol

Laurenz De Cock, Erika D'haenens (UGent) , Lies Vantomme (UGent) , Lynn Backers, Aude Beyens (UGent) , Kathleen Claes (UGent) , Griet De Clercq (UGent) , Robin de Putter (UGent) , Candy Kumps (UGent) , Nika Schuermans (UGent) , et al.

(2025) NPJ GENOMIC MEDICINE. 10(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) , Jeremie Gautheron, Marie-Christine Vantyghem, Sonia Nouioua, Meriem Tazir, Corinne Vigouroux, Martine Auclair, Elke Bogaert (UGent) , et al.

(2024) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 32(Supplement 2). p.1353-1354

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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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Miscellaneous

Phospholipid modifier PLAAT3 links defective PPARγ-dependent signaling to lipodystrophy

Bart Dermaut (UGent) and Nika Schuermans (UGent)

(2023) NATURE GENETICS. 55(11). p.1790-1791

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Journal Article
A1
open access

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).

Academic Bibliography

Nika Schuermans

Identifying genetic causes of unexplained rare neurological disorders

Getting close to RNF216 : proximity labeling reveals links between nuclear condensates, splicing and neurodegeneration

Case report : recurrent catatonia in a patient with 17p13.3 microduplication syndrome

Cracking rare disorders : a new minimally invasive RNA-seq protocol

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

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

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Identifying genetic causes of unexplained rare neurological disorders

Getting close to RNF216 : proximity labeling reveals links between nuclear condensates, splicing and neurodegeneration​

Case report : recurrent catatonia in a patient with 17p13.3 microduplication syndrome

Cracking rare disorders : a new minimally invasive RNA-seq protocol

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

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

Getting close to RNF216 : proximity labeling reveals links between nuclear condensates, splicing and neurodegeneration