ArticleHGG advances2023
Variants in
Open access · goldAbstract read
In one paragraph
Article in HGG advances, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
0numbers the graph read from it
0cells of the map it votes in
13citing papers in PubMed
3.3field-weighted citation impact, top 7% 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.
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
13 citing papers in PubMed, 15 citations in OpenAlex.
- Two Novel ACTC1 Variants Cause Arthrogryposis Multiplex Congenita.Clinical genetics · 2026Article
- Genetic variants of ACTC1 gene promoter in pediatric patients with sporadic patent ductus arteriosus and pathological significance.Pediatric research · 2026Article
- Article
- Laryngeal Transcriptomic Insights into Echolocation Call Frequency Divergence in Closely RelatedBiology · 2026Article
- Genetics in Hypertrophic Cardiomyopathy: An Evolving Clinical Landscape.Cardiac failure review · 2026Review
- Screening and Identification of BMP5 as a Key Regulatory Gene for hPSCs Transcardiomyocyte Differentiation.Stem cells international · 2026Article
- Fast Myosin Binding Protein-C Is a Vital Regulator in Young and Aged Fast Skeletal Muscle Homeostasis.Journal of cachexia, sarcopenia and muscle · 2025Article
- The evolving genetic landscape of neuromuscular fetal akinesias.Journal of neuromuscular diseases · 2025Review
- LMOD2 interaction with ACTC1 regulates myogenic differentiation.BMC genomics · 2025Article
- GREGoR: Accelerating Genomics for Rare Diseases.ArXiv · 2024Article
- Heterogenic Genetic Background of Distal Arthrogryposis-Review of the Literature and Case Report.Children (Basel, Switzerland) · 2024Review
- An Update on Reported Variants in the Skeletal MuscleHuman mutation · 2024Review
- Article
Corrections and comments
- Update ofVariants in2023
Authors and funding
20 authors at 8 institutions in 5 countries.
Jessica X ChongDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Matthew Carter ChildersDepartment of Bioengineering, University of Washington, Seattle, WA 98195, USA.
Colby T MarvinDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Allison J MarcelloDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Hernan GonorazkyDivision of Neurology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Lili-Naz HazratiDepartment of Paediatric Laboratory Medicine, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
James J DowlingDivision of Neurology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Fatema Al AmraniDivision of Neurology, The Hospital for Sick Children, Toronto, ON M5G 1X8, Canada.
Yasemin AlanayDivision of Pediatric Genetics, Department of Pediatrics, School of Medicine, Acibadem Mehmet Ali Aydinlar University, 34752 Istanbul, Turkey.
Yolanda NietoDepartment of Basic Bio-Medical Sciences, European University of Madrid, Madrid, Spain.
Miguel Á Marín GabrielDepartment of Pediatrics, Puerta de Hierro-Majadahonda University Hospital, 28221 Madrid, Spain.
Arthur S AylsworthDepartments of Pediatrics and Genetics, University of North Carolina, Chapel Hill, NC 27599, USA.
Kati J BuckinghamDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Kathryn M ShivelyDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Olivia SommersDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
Kailyn AndersonDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
University of Washington Center for Mendelian Genomics
University of Washington Center for Rare Disease Research
Michael RegnierDepartment of Bioengineering, University of Washington, Seattle, WA 98195, USA.
Michael J BamshadDivision of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA 98195, USA.
University of Washington · USHospital for Sick Children · CAHospital Universitario Puerta de Hierro Majadahonda · ESKent Hastanesi · TRSeattle Children's Hospital · USUniversidad Europea de Madrid · ESUniversity of North Carolina at Chapel Hill · USUniversity of Toronto · CA
Funding
UW Center for Mendelian GenomicsU54HG006493 · NHGRI · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH, NICKERSON, DEBORAH A · 2012 to 2015
$20.0MUniversity 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
$14.8MFrom proteins to cells to tissues: A multi-scale assessment of biomechanical regulation by the myosin molecular motorRM1GM131981 · NIGMS · STANFORD UNIVERSITY · PI BERNSTEIN, DANIEL, MACK, DAVID LEE · 2019 to 2023
$10.3MCARDIOVASCULAR RESEARCH TRAINING PROGRAMT32HL007828 · NHLBI · UNIVERSITY OF WASHINGTON · PI Francis Kim, Farid Moussavi-Harami · 1997 to 2026
$10.2MUW Center for Translational Muscle Research (Overall Application)P30AR074990 · NIAMS · UNIVERSITY OF WASHINGTON · PI Jennifer Michelle Davis, DANIEL RAFTERY · 2019 to 2026
$7.5MEngineered Stem Cells for Cardiac RepairR01HL128368 · NHLBI · UNIVERSITY OF WASHINGTON · PI REGNIER, MICHAEL · 2018 to 2025
$6.1MGenetic and Molecular Basis of Congenital ContracturesR01HD048895 · NICHD · UNIVERSITY OF WASHINGTON · PI BAMSHAD, MICHAEL JOSEPH · 2005 to 2016
$4.3MNHGRI NIH HHS U01 HG011744NHGRI NIH HHS U24 HG011746NHGRI NIH HHS U54 HG006493NHGRI NIH HHS UM1 HG006493NHLBI NIH HHS R01 HL128368NHLBI NIH HHS T32 HL007828NIAMS NIH HHS P30 AR074990NICHD NIH HHS R01 HD048895NIGMS NIH HHS RM1 GM131981
Abstract
Contraction of the human sarcomere is the result of interactions between myosin cross-bridges and actin filaments. Pathogenic variants in genes such as
Indexed as
ArthrogryposisCardiomyopathiesCardiomyopathy, DilatedCardiomyopathy, HypertrophicHeart Defects, CongenitalMuscular DiseasesActinsHumansMyosinsACTC1 protein, humanActinsMyosinscardiac defectcardiomyopathycongenital contracturesdistal arthrogryposisexome sequencinggene discoveryMendelian diseaseMendelian disordermolecular dynamics simulations
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What OpenQuestion holds
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LicenceCC BY
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.