ArticleNeurology. Genetics2022
Transcript-Specific Loss-of-Function Variants in
Open access · goldAbstract read
In one paragraph
Article in Neurology. Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
1.2field-weighted citation impact, top 23% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
13 citing papers in PubMed, 16 citations in OpenAlex.
- VPS16-Related Dystonia: Expanding the Clinical Spectrum and Therapeutic Insights.Movement disorders clinical practice · 2026Review
- A Twisting Diagnosis: A New Case of VPS16-Related Hyperkinetic Spectrum and Literature Review.Movement disorders clinical practice · 2026Article
- Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- Deep Brain Stimulation for VPS16-Related Dystonia: A Multicenter Study.Annals of neurology · 2025Observational
- Voice Tremor in VPS-16 Gene Mutation: Expanding the Clinical Spectrum.Movement disorders clinical practice · 2025Article
- Article
- A Novel Pattern of Dystonia in DYT-Neurology. Genetics · 2024Article
- Dominant VPS16 Pathogenic Variants: Not Only Isolated Dystonia.Movement disorders clinical practice · 2024Article
- Differential diagnosis of chorea (guidelines of the German Neurological Society).Neurological research and practice · 2023Article
- Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30.Neurogenetics · 2023Article
- Dystonias: Clinical Recognition and the Role of Additional Diagnostic Testing.Seminars in neurology · 2023Article
- Case report: atypical Silver-Russell syndrome patient with hand dystonia: the valuable support of the consensus statement to the wide syndromic spectrum.Frontiers in genetics · 2023Article
- Long-term benefit of pallidal deep brain stimulation in a patient with VPS16-associated dystonia.Neurological research and practice · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
16 authors at 7 institutions in 1 country.
Joohyun ParkInstitute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany.
Annemarie ReilaenderInstitute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany.
Jan N Petry-SchmelzerInstitute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany.
Petra StöbeInstitute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany.
Isabell CordtsInstitute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany.
Florian HarmuthInstitute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany.
Maren RautenbergInstitute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany.
Sarah E WoerzInstitute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany.
German DemidovInstitute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany.
Marc SturmInstitute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany.
Stephan OssowskiInstitute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany.
Eva M C SchwaiboldInstitute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany.
Gilbert WunderlichInstitute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany.
Sebastian PausInstitute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany.
Carsten SaftInstitute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany.
Tobias B HaackInstitute of Medical Genetics and Applied Genomics (J.P., P.S., F.H., M.R., S.E.W., G.D., M.S., S.O.), University of Tübingen, Tübingen. Germany; Department of Neurology University Hospital (A.R.), Goethe University Frankfurt, Frankfurt. Germany; University of Cologne, Faculty of Medicine and University Hospital Cologne, Department of Neurology (J.N.P-S., G.W.), Cologne. Germany; Department of Neurology (I.C.,), Klinikum rechts der Isar, Technical University Munich, Munich. Germany; Institute of Human Genetics (E.M.C.S.), Heidelberg University, Heidelberg. Germany; University of Cologne (G.W.), Faculty of Medicine and University Hospital Cologne, Centre for Rare Diseases, Cologne, Germany; Department of Neurology (S.P.), GFO Clinics Troisdorf, Troisdorf. Germany; Department of Neurology (C.S.), Huntington Centre NRW, Ruhr-University Bochum, St. Josef-Hospital, Bochum. Germany; Centre for Rare Diseases, University of Tübingen (T.B.H.), Tübingen. Germany.
Ruhr University Bochum · DESt. Josef-Hospital · DEKlinikum rechts der Isar · DEUniversity Hospital Cologne · DEGoethe University Frankfurt · DEHeidelberg University · DEUniversity of Cologne · DE
Funding
No grant is acknowledged in the PubMed record.
Abstract
BACKGROUND AND
objectivesOur objective was to improve rare variant interpretation using statistical measures as well as publicly accessible annotation of expression levels and tissue specificity of different splice isoforms. We describe rare
methodsIn-house exome and genome data sets (n = 11,539) were screened for rare heterozygous missense and putative loss-of-function (pLoF) variants in
resultsSix different heterozygous pLoFs in DISCUSSION: Our data provide strong evidence for
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