Research Explorer

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Researcher

Nika Schuermans

Awards & Distinctions

16 Results

2024

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 broeckeAlexander DecruyenaereNika SchuermansHannah VerdinJody GhijselsAnne SiebenBart DermautDimitri Hemelsoet

A1 Journal Article in JOURNAL OF NEUROLOGY

2023

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

Anne-Sophie Denommé-PichonLeslie MatalongaElke de BoerAdam JacksonElisa BenettiSiddharth BankaAnge-Line BruelAndrea CiolfiJill Clayton-SmithBruno Dallapiccola et al.

A1 Journal Article in GENETICS IN MEDICINE

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

Elena PoggioLucia BarazzuolAndrea SalmasoCeleste MilaniAdamantia DeligiannopoulouÁngeles García CazorlaSe Song JangNatalia Juliá-PalaciosBoris KerenRobert Kopajtich et al.

A1 Journal Article in GENETICS IN MEDICINE

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

Pedro Ervilha PereiraNika SchuermansAntoon MeylemansPontus LeBlancLauren VersluysKE CopleyJD RubienC AltheimerMyra PeetermansElke Debackere et al.

A1 Journal Article in ACTA NEUROPATHOLOGICA

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

Nika SchuermansHannah VerdinJody GhijselsMadeleine HellemansElke DebackereElke BogaertSofie SymoensLeslie NaesensElien LecomteDavid Crosiers et al.

A1 Journal Article in NEUROLOGY-GENETICS

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

Steven CallensBart DermautFilomeen HaerynckDimitri HemelsoetLeslie NaessensBruce PoppeSanne SteyaertWim TerrynArnaud VanlanderPATRICK VERLOO et al.

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

Nika SchuermansSalima El ChehadehDimitri HemelsoetJérémie GautheronMarie-Christine VantyghemSonia NouiouaMeriem TazirCorinne VigourouxMartine AuclairElke Bogaert et al.

A1 Journal Article in NATURE GENETICS

Phospholipid modifier PLAAT3 links defective PPARγ-dependent signaling to lipodystrophy

Bart DermautNika Schuermans

A1 Journal Article in NATURE GENETICS

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

Burcu YaldizErdi KucukJuliet HampsteadTom HofsteRolph PfundtJordi Corominas GalbanyTuula RinneHelger G. YntemaAlexander HoischenMarcel Nelen et al.

A1 Journal Article in HUMAN GENOMICS

2022

A structural variant of the C-terminal prion-like domain of TDP-43 causes vacuolar muscle degeneration

Pedro Ervilha PereiraNika SchuermansAntoon MeylemansPontus LeBlancL VersluysElke DebackereOlivier VanakkerSara JanssensJonathan BaetsK Verhoeven et al.

Expanding the TDP-43 proteinopathy pathway from neurons to muscle : physiological and pathophysiological functions

Lauren VersluysPedro Ervilha PereiraNika SchuermansBoel De PaepeJan De BleeckerElke BogaertBart Dermaut

A1 Journal Article in FRONTIERS IN NEUROSCIENCE

Lipodystrophy due to genetic deficiency of picornavirus host factor and obesity regulator PLAAT3

Nika SchuermansSalima El ChehadehDimitri HemelsoetElke BogaertElke DebackerePascale HilbertNike Van DoninckMarie-Caroline TaquetToon RosseelGriet De Clercq et al.

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

Patrick SantensArnout BruggemanNika SchuermansHannah VerdinBart Dermaut

A1 Journal Article in EUROPEAN JOURNAL OF MEDICAL GENETICS

Shortcutting the diagnostic odyssey : the multidisciplinary program for undiagnosed rare diseases in adults (UD-PrOZA)

Nika SchuermansDimitri HemelsoetWim TerrynSanne SteyaertRudy Van CosterPaul CouckeWouter SteyaertBert CallewaertElke BogaertPatrick Verloo et al.

A1 Journal Article in ORPHANET JOURNAL OF RARE DISEASES

2015

Comparative study of innovative postoperative wound dressings after total knee arthroplasty

Andreas DobbelaereNika SchuermansSteven SmetCatherine Van Der StraetenJan Victor

A1 Journal Article in ACTA ORTHOPAEDICA BELGICA

Vernieuwende postoperatieve wondverbanden bij een totale knieprothese : vergelijkende studie van Aquacel Surgical, Opsite Visible en Mepilex Border

Andreas DobbelaereNika SchuermansSteven SmetJan Victor

A2 Journal Article in TIJDSCHRIFT VOOR GENEESKUNDE