Evidence map›Paper›PMID 28317263›Full record

ArticleAmerican journal of medical genetics. Part A2017

Maternal uniparental disomy of chromosome 15 and concomitant STRC and CATSPER2 deletion-mediated deafness-infertility syndrome.

Lisa Karger, Wahab A Khan, Rafaela Calabio, Ram Singh, Bixia Xiang, Arvind Babu, Ninette Cohen, Amy C Yang, Stuart A Scott

Abstract readCase ReportsLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of medical genetics. Part A, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
0.9field-weighted citation impact, top 22% 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

7 citing papers in PubMed, 10 citations in OpenAlex.

  1. Review
  2. Article
  3. Article
  4. Article
  5. Article
  6. Significant Mendelian genetic contribution to pediatric mild-to-moderate hearing loss and its comprehensive diagnostic approach.Genetics in medicine : official journal of the American College of Medical Genetics · 2020
    Article
  7. Article
4 · The record

Corrections and comments

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

9 authors at 2 institutions in 1 country.

Lisa KargerDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Wahab A KhanDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Rafaela CalabioDivision of Neonatology, Mount Sinai West, New York, New York.
Ram SinghDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Bixia XiangDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Arvind BabuDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Ninette CohenDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Amy C YangDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.
Stuart A ScottDepartment of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, New York.ORCID 0000-0001-5720-1864
Icahn School of Medicine at Mount Sinai · USMount Sinai Hospital · US

Funding

The Pharmacogenomic Control of Clopidogrel Response in Acute Coronary SyndromesK23GM104401 · NIGMS · ICAHN SCHOOL OF MEDICINE AT MOUNT SINAI · PI SCOTT, STUART ALEXANDER · 2013 to 2016
$778k
NIGMS NIH HHS K23 GM104401
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

Gene DeletionCalcium ChannelsChromosome DeletionChromosome MappingChromosomes, Human, Pair 15Hearing Loss, SensorineuralHumansInfant, NewbornInfertility, MaleIn Situ Hybridization, FluorescenceIntercellular Signaling Peptides and ProteinsMaleMembrane ProteinsOligonucleotide Array Sequence AnalysisPrader-Willi SyndromeSeminal Plasma ProteinsCalcium ChannelsCATSPER2 protein, humanIntercellular Signaling Peptides and ProteinsMembrane ProteinsSeminal Plasma ProteinsSTRC protein, humanCATSPER2chromosome 15deafness-infertility syndromePrader-Willi syndromeSTRCuniparental disomy

Identifiers

PMID28317263
PMCPMC5397338
OpenAlexW2598161407

What OpenQuestion holds

Textmetadata
LicenceTDM
Read underepoch 390

Registered trials

None linked

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.