Evidence map›Paper›PMID 36968585›Full record

ArticleFrontiers in genetics2023

cDNA sequencing increases the molecular diagnostic yield in Chediak-Higashi syndrome.

Chulaluk Kuptanon, Marie Morimoto, Elena-Raluca Nicoli, Joshi Stephen, David S Yarnell, Heidi Dorward, William Owen, Suhag Parikh, Namik Yasar Ozbek, Baris Malbora and 5 more

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In one paragraph

Article in Frontiers in genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–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

3 citing papers in PubMed.

  1. Article
  2. Article
  3. Spectrum ofJournal of medical genetics · 2024
    Review
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

15 authors.

Chulaluk KuptanonHuman Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
Marie MorimotoNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
Elena-Raluca NicoliNational Institutes of Health Undiagnosed Diseases Program, National Institutes of Health Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD, United States.
Joshi StephenHuman Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
David S YarnellHuman Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
Heidi DorwardHuman Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
William OwenChildren's Hospital of The King's Daughters, Norfolk, VA, United States.
Suhag ParikhDepartment of Pediatrics, School of Medicine, Emory University, Atlanta, GA, United States.
Namik Yasar OzbekDivision of Pediatric Hematology and Oncology, University of Yeni Yuzyil, Gaziosmanpasa Hospital, Istanbul, Türkiye.
Baris MalboraDepartment of Pediatric Hematology/Oncology, Ankara City Hospital, The University of Health Sciences, Ankara, Türkiye.
Carla CicconeHuman Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
Meral Gunay-AygunHuman Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
William A GahlHuman Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
Wendy J IntroneHuman Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.
May Christine V MalicdanHuman Biochemical Genetics Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

Funding

Human Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6M
6 · The paper itself

Abstract

PubMed holds no abstract for this paper.

Indexed as

LYSTmolecular diagnosismonogenic diseasesoculocutaneous albinismpersonalized medicinerare disorderssplicing abnormalities

Identifiers

PMID36968585
PMCPMC10031035

What OpenQuestion holds

Textfull text, public
LicenceCC BY
measurements read6
reference markers read2
identifiers read2
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.