Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations.
Keri Ramsey, Newell Belnap, Anna Bonfitto, Wayne Jepsen, Marcus Naymik, Meredith Sanchez-Castillo, David W Craig, Szabolcs Szelinger, Matthew J Huentelman, Vinodh Narayanan and 1 more
Article in Molecular genetics & genomic medicine, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 59% of its field
1 · What the graph read from it
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.
2 · The registry
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.
3 · Its place in the literature
Who cites it
1 citing paper in PubMed, 2 citations in OpenAlex.
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what money
Authors and funding
11 authors at 2 institutions in 1 country.
Keri RamseyCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.ORCID 0000-0002-4905-1840
Newell BelnapCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
Anna BonfittoCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
Wayne JepsenCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
Marcus NaymikCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
Meredith Sanchez-CastilloCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
David W CraigDepartment of Translational Genomics, Keck School of Medicine, University of Southern California, Los Angeles, California, USA.ORCID 0000-0003-2040-1955
Szabolcs SzelingerCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
Matthew J HuentelmanCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.
Vinodh NarayananCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.ORCID 0000-0002-0658-3847
Sampath RangasamyCenter for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, Arizona, USA.ORCID 0000-0003-2151-9162
Translational Genomics Research Institute · USUniversity of Southern California · US
Funding
No grant is acknowledged in the PubMed record.
6 · The paper itself
Abstract
PubMed holds no abstract for this paper.
Indexed as
Carrier ProteinsNerve Tissue ProteinsAtrophyHeterozygoteHumansMutationCarrier ProteinsNerve Tissue ProteinsTECPR2 protein, human
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.
Progressive cerebellar atrophy caused by heterozygous TECPR2 mutations. · full record | OpenQuestion