ArticleRare (Amsterdam, Netherlands)2024
Dual diagnosis of
Abstract read
In one paragraph
Article in Rare (Amsterdam, Netherlands), 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
–field-weighted citation impact
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.
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.
Who cites it
4 citing papers in PubMed.
- Comprehensive functional testing in fibroblasts has strong utility to diagnose mitochondrial disease.EMBO molecular medicine · 2026Article
- LRRC71 is essential for sperm motility, fertilization, and male fertility.The Journal of biological chemistry · 2026Article
- Hydrogen-rich saline treatment modulates proteomic profiles to mitigate cataract development in a N-methyl-N-nitrosourea-induced rat model.International ophthalmology · 2026Article
- Mutations of the Electron Transport Chain Affect Lifespan and ROS Levels inAntioxidants (Basel, Switzerland) · 2025Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
43 authors.
Elizabeth E BlueDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Samuel J HuangDepartment of Medical Genetics, Marshfield Clinic, Marshfield, WI 54449, USA.
Alyna KhanInstitute for Public Health Genetics, University of Washington, Seattle, WA 98195, USA.
Katie Golden-GrantDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Brenna BoydDepartment of Pediatrics, Columbia University Irving Medical Center, New York, NY 10032, USA.
Elisabeth A RosenthalDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Madelyn A GillentineDepartment of Laboratories, Seattle Children's Hospital, Seattle, WA 98105, USA.
Leah R FlemingDepartment of Genetics, Saint Luke's Genetics and Metabolic Clinic, Boise, ID 83712, USA.
David R AdamsNIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.
Lynne WolfeNIH Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.
Aimee AllworthDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Michael J BamshadBrotman Baty Institute, Seattle, WA 98195, USA.
Nikeisha J CaruanaDepartment of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia.
Sirisak ChanprasertDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Jingheng ChenInstitute for Public Health Genetics, University of Washington, Seattle, WA 98195, USA.
Nitsuh DargieDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Daniel DohertyBrotman Baty Institute, Seattle, WA 98195, USA.
Marisa W FriederichSection of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Center, Aurora, CO 80045, USA.
Fuki M HisamaDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Martha Horike-PyneDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Jessica C LeeSection of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Center, Aurora, CO 80045, USA.
Tonia E DonovanDepartment of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, CO 80045, USA.
Daniella H HockDepartment of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia.
Kathleen A LeppigDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Danny E MillerBrotman Baty Institute, Seattle, WA 98195, USA.
Ghayda MirzaaBrotman Baty Institute, Seattle, WA 98195, USA.
Jane RanchalisDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Wendy H RaskindDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Cole R MichelDepartment of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Richard ReisdorphDepartment of Pharmaceutical Sciences, Skaggs School of Pharmacy and Pharmaceutical Sciences, University of Colorado Anschutz Medical Campus, Aurora, CO 80045, USA.
Ulrike SchwarzeDepartment of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA.
Sam SheppeardDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Samuel StrohbehnDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
David A StroudDepartment of Biochemistry and Pharmacology, Bio21 Molecular Science and Biotechnology Institute, The University of Melbourne, Parkville, VIC, Australia.
Virginia P SybertDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Mark H WenerDepartment of Laboratory Medicine, University of Washington, Seattle, WA 98195, USA.
University of Washington Center for Rare Disease Research, the Undiagnosed Diseases Network
Andrew B StergachisDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Christina T LamDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Gail P JarvikDivision of Medical Genetics, Department of Medicine, University of Washington, Seattle, WA 98195, USA.
Katrina M DippleBrotman Baty Institute, Seattle, WA 98195, USA.
Johan L K Van HoveSection of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado Anschutz Medical Center, Aurora, CO 80045, USA.
Ian A GlassBrotman Baty Institute, Seattle, WA 98195, USA.
Funding
Coordinating Center for the Undiagnosed Diseases NetworkU01HG007530 · NHGRI · HARVARD MEDICAL SCHOOL · PI KOHANE, ISAAC S. · 2014 to 2022
$30.2MThe North American Mitochondrial Disease Consortium (NAMDC)U54NS078059 · NINDS · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI HAAS, RICHARD H · 2011 to 2023
$17.5MUniversity of Washington Mendelian Genomics Research Center (UW-MGRC)U01HG011744 · NHGRI · UNIVERSITY OF WASHINGTON · PI MICHAEL Joseph BAMSHAD, Evan Eichler · 2021 to 2026
$15.8MUW Center for Mendelian GenomicsUM1HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, LEAL, SUZANNE M · 2016 to 2020
$15.3MUniversity of Washington (UW) Mendelian Genomics Data Coordinating CenterU24HG011746 · NHGRI · UNIVERSITY OF WASHINGTON · PI Susanne May, ALI SHOJAIE · 2021 to 2026
$14.8MClinical Sequencing Core Facility for the Undiagnosed Diseases Network (UDN)U01HG007942 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI ENG, CHRISTINE · 2014 to 2021
$10.2MPacific Northwest Undiagnosed Diseases Network Clinical SiteU01HG010233 · NHGRI · UNIVERSITY OF WASHINGTON · PI DIPPLE, KATRINA M, JARVIK, GAIL PAIRITZ · 2018 to 2022
$5.4MPacific Northwest Undiagnosed Diseases Network Clinical SiteU01NS134355 · NINDS · UNIVERSITY OF WASHINGTON · PI ELIZABETH ELOYCE BLUE, Katrina M Dipple · 2023 to 2026
$3.0MFusion Lumos Orbitrap System for Quantitative Proteomics and Metabolomics ApplicationsS10OD028538 · OD · UNIVERSITY OF COLORADO DENVER · PI REISDORPH, NICHOLE A · 2021 to 2021
$1.3MC BRIGGSAE AND C ELEGANS GENOMIC SEQUENCE COMPARISONF32HG000130 · NHGRI · WASHINGTON UNIVERSITY · PI COUCH, JENNIFER A · 1994 to 1995
–NHGRI NIH HHS F32 HG000130NHGRI NIH HHS U01 HG007530NHGRI NIH HHS U01 HG007942NHGRI NIH HHS U01 HG010233NHGRI NIH HHS U01 HG011744NHGRI NIH HHS U24 HG011746NHGRI NIH HHS UM1 HG006493NIH HHS S10 OD028538NINDS NIH HHS U01 NS134355NINDS NIH HHS U54 NS078059
Abstract
Biallelic pathogenic variants in
Indexed as
alopeciacataractsGJA8mitochondrial complex IIIphenotypic spectrumrare diseaseUQCRFS1
Identifiers
What OpenQuestion holds
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LicenceCC BY-NC
Read underepoch 390
Registered trials
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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.