In one paragraphArticle in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
–field-weighted citation impact, top 76% 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.
2 · The registryThe 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 literatureWho cites it
0 citing papers in PubMed, 0 citations in OpenAlex.
No citing paper in PubMed yet.
4 · The recordCorrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what moneyAuthors and funding
14 authors at 4 institutions in 2 countries.
Wendy K ChungDepartments of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA.ORCID 0000-0003-3438-5685 Sergey NovoselovDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.ORCID 0000-0002-5491-7522 Louis H WeimerDepartment of Neurology, Columbia University Irving Medical Center, New York, NY 10032, USA.
Alexander RossorDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
Charles A LeDucDepartments of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA.ORCID 0000-0002-2073-5050 Amanda J McPartlandDepartments of Pediatrics and Medicine, Columbia University Irving Medical Center, New York, NY 10032, USA.ORCID 0009-0000-2482-5363 Ernesto CabreraDepartment of Otolaryngology-Head and Neck Surgery, Indiana University School of Medicine, Indianapolis, IN 46202, USA.
Josef EksteinDor Yeshorim, Committee for Prevention Jewish Genetic Diseases, Brooklyn, NY 11211, USA.
Sholem ScherDor Yeshorim, Committee for Prevention Jewish Genetic Diseases, Brooklyn, NY 11211, USA.
Rick F NelsonDepartment of Otolaryngology-Head and Neck Surgery, Indiana University School of Medicine, Indianapolis, IN 46202, USA.ORCID 0000-0001-5749-6383 Giampietro SchiavoDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.ORCID 0000-0002-4319-8745 Lindsay B HendersonGeneDx, Gaithersburg, MD 20877, USA.
Kevin T A BoothDepartment of Otolaryngology-Head and Neck Surgery, Indiana University School of Medicine, Indianapolis, IN 46202, USA.ORCID 0000-0003-3061-3652 Columbia University Irving Medical Center · USIndiana University School of MedicineNational Hospital for Neurology and Neurosurgery · GBUK Dementia Research Institute · GB
Funding
TRAINING GRANT IN GENETICST32GM007748 · NIGMS · HARVARD UNIVERSITY (MEDICAL SCHOOL) · PI Anne O'Donnell-Luria, Louise Wilkins-Haug · 1985 to 2026
$12.0MMechanisms of Mammalian Genetic Hearing LossR01DC020574 · NIDCD · INDIANA UNIVERSITY INDIANAPOLIS · PI Rick F Nelson · 2023 to 2026
$2.4MGenetically Mediated Hair Cell Degeneration in 3D Inner Ear OrganoidsK08DC016034 · NIDCD · INDIANA UNIVERSITY INDIANAPOLIS · PI NELSON, RICK F · 2017 to 2021
$894kNIDCD NIH HHS K08 DC016034NIDCD NIH HHS R01 DC020574NIGMS NIH HHS T32 GM007748NIH HHS DC016034NIH HHS DC020574NIH HHS T32GM007748Wellcome Trust
6 · The paper itselfAbstract
Hearing loss and peripheral neuropathy are two clinical entities that are genetically and phenotypically heterogeneous and sometimes co-occurring. Using exome sequencing and targeted segregation analysis, we investigated the genetic etiology of peripheral neuropathy and hearing loss in a large Ashkenazi Jewish family. Moreover, we assessed the production of the candidate protein via western blotting of lysates from fibroblasts from an affected individual and an unaffected control. Pathogenic variants in known disease genes associated with hearing loss and peripheral neuropathy were excluded. A homozygous frameshift variant in the
Indexed as
DeafnessHearing LossPeripheral Nervous System DiseasesAdaptor Proteins, Signal TransducingCytoskeletal ProteinsHumansPedigreePhenotypeAdaptor Proteins, Signal TransducingBICD1 protein, humanCytoskeletal ProteinsAshkenazi JewishCMTcytoplasmic dyneinhearing lossmicrotubule-based transport
Identifiers
PMID37240244
PMCPMC10219021
OpenAlexW4377107563
What Socratic holds
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LicenceCC BY
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