Evidence map›Paper›PMID 34478655›Full record

ArticleAmerican journal of human genetics2021

Response to Biesecker et al.

Ada Hamosh, Joanna S Amberger, Carol A Bocchini, Joann Bodurtha, Carol J Bult, Christopher G Chute, Garry R Cutting, Harry C Dietz, Helen V Firth, Richard A Gibbs and 11 more

Abstract readLetterComment
PubMed Full text at PMC Publisher
In one paragraph

Article in American journal of human genetics, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed, 1 pooled it
–field-weighted citation impact
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

4 citing papers in PubMed, 1 synthesis or guideline pooled it.

  1. Guideline
  2. Article
  3. Clinical and functional heterogeneity associated with the disruption of retinoic acid receptor beta.Genetics in medicine : official journal of the American College of Medical Genetics · 2023
    Article
  4. [Rare-disease data standards].Bundesgesundheitsblatt, Gesundheitsforschung, Gesundheitsschutz · 2022
    Review
4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

21 authors.

Ada HamoshDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA. Electronic address: ahamosh@jhmi.edu.
Joanna S AmbergerDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Carol A BocchiniDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Joann BodurthaDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Carol J BultThe Jackson Laboratory for Mammalian Genetics, Bar Harbor, ME 04609, USA.
Christopher G ChuteJohns Hopkins University Schools of Medicine, Public Health, and Nursing, Baltimore, MD 21287, USA.
Garry R CuttingDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Harry C DietzDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Helen V FirthDept of Clinical Genetics, Box 134, Cambridge University Hospitals, Cambridge CB2 0QQ, UK.
Richard A GibbsDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030 USA.
Wayne W GrodyDepartments of Pathology and Laboratory Medicine, Pediatrics, and Human Genetics, UCLA School of Medicine, Los Angeles, CA 90095, USA.
Melissa A HaendelCenter for Health Artificial Intelligence, University of Colorado Anschutz Medical School, Aurora, CO 80045, USA.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030 USA; Texas Children's Hospital, Houston, TX 77030, USA.
Jennifer E PoseyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Peter N RobinsonThe Jackson Laboratory for Genomic Medicine, Farmington, CT 06032, USA.
Lynn M SchrimlInstitute for Genome Sciences, University of Maryland School of Medicine, Baltimore, MD 21201, USA.
Alan F ScottDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Nara L SobreiraDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
David ValleDepartment of Genetic Medicine, Johns Hopkins University School of Medicine, Baltimore, MD 21287, USA.
Nan WuDepartment of Orthopedic Surgery, Key Laboratory of Big Data for Spinal Deformities, Beijing Key Laboratory for Genetic Research of Skeletal Deformity, State Key Laboratory of Complex Severe and Rare Diseases, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing 100730, China.
Sonja A RasmussenDepartments of Pediatrics, Obstetrics and Gynecology, and Epidemiology, University of Florida College of Medicine and College of Public Health and Health Professions, Gainesville, FL 32610, USA.

Funding

The Disease Ontology Project: mechanistic profiles of human disease for biomedical and clinical researchU41HG008735 · NHGRI · UNIVERSITY OF MARYLAND BALTIMORE · PI SCHRIML, LYNN MARIE · 2017 to 2021
$3.4M
NHGRI NIH HHS U41 HG008735
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

BlepharophimosisFaciesHumans

Identifiers

PMID34478655
PMCPMC8456153

What OpenQuestion holds

Textmetadata
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.