ArticleHGG advances2021
Germline mutation in
Open access · goldAbstract read
In one paragraph
Article in HGG advances, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
0numbers the graph read from it
0cells of the map it votes in
15citing papers in PubMed
1.3field-weighted citation impact, top 19% 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
15 citing papers in PubMed, 21 citations in OpenAlex.
- White matter disorders at the intersection of transcription, RNA processing and translation.Nature reviews. Neurology · 2026Review
- Bi-allelic missense variants in human GPN2 result in Perrault syndrome.American journal of human genetics · 2026Article
- Article
- Transcriptional rewiring in cancer driven byFrontiers in pharmacology · 2025Review
- RNA Polymerase II Activity Control of Gene Expression and Involvement in Disease.Journal of molecular biology · 2025Review
- RNA Pol II Assembly Affects ncRNA Expression.International journal of molecular sciences · 2023Article
- Evolutionary conservation of the fidelity of transcription.Nature communications · 2023Article
- Posterior fossa ependymoma in neurodevelopmental syndrome caused by a de novo germline pathogenic POLR2A variant.American journal of medical genetics. Part A · 2022Article
- Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.Journal of medical genetics · 2022Article
- RNA polymerase pausing, stalling and bypass during transcription of damaged DNA: from molecular basis to functional consequences.Nucleic acids research · 2022Review
- Article
- A new amplicon-based gene panel for next generation sequencing characterization of meningiomas.Brain pathology (Zurich, Switzerland) · 2022Review
- DNA damage repair-related gene signature predicts prognosis and indicates immune cell infiltration landscape in skin cutaneous melanoma.Frontiers in endocrinology · 2022Article
- Yeast as a Tool to Understand the Significance of Human Disease-Associated Gene Variants.Genes · 2021Review
- Proteomic analysis of bone marrow-derived mesenchymal stem cell extracellular vesicles from healthy donors: implications for proliferation, angiogenesis, Wnt signaling, and the basement membrane.Stem cell research & therapy · 2021Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
24 authors at 13 institutions in 2 countries.
Adam W HansenHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Payal AroraDepartment of Biological Sciences, University of Pittsburgh, Pittsburgh, PA, USA.
Michael M KhayatHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Leah J SmithDepartment of Biochemistry and Biophysics, Texas A&M University, TX, USA.
Andrea M LewisDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Linda Z RossettiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Joy JayaseelanHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Ingrid CristianDivision of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL, USA.
Devon HaynesDivision of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL, USA.
Stephanie DiTroiaBroad Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Naomi MeeksDepartments of Pediatrics and Genetics, University of Colorado School of Medicine, Aurora, CO, USA.
Mauricio R DelgadoTexas Scottish Rite Hospital for Children, Dallas, TX, USA.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Lynn PaisBroad Center for Mendelian Genomics and Program in Medical and Population Genetics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.
Susan M WhiteVictorian Clinical Genetics Services, Murdoch Children's Research Institute, Parkville 3052, VIC, Australia.
Qingchang MengHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Davut PehlivanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Pengfei LiuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Marie-Claude GingrasHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Michael F WanglerDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
Donna M MuznyHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
James R LupskiHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Craig D KaplanDepartment of Biological Sciences, University of Pittsburgh, Pittsburgh, PA, USA.
Richard A GibbsHuman Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
Baylor College of Medicine · USUniversity of Pittsburgh · USArnold Palmer Hospital for Children · USBaylor Genetics · USBroad Center · USBroad Institute · USNeurological Research Institute · USOrlando Health · USPediatrics and Genetics · USTexas A&M University · USTexas Children's Hospital · USTexas Scottish Rite Hospital for Children · USUniversity of Melbourne · AU
Funding
Genomic Architecture of Common Disease in Diverse Populations: WGS of Ongoing Hemorrhagic Stroke Study SupplementUM1HG008898 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI GIBBS, RICHARD A · 2016 to 2020
$77.0MJoint Center for Mendelian GenomicsUM1HG008900 · NHGRI · BROAD INSTITUTE, INC. · PI O'DONNELL-LURIA, ANNE, REHM, HEIDI L · 2016 to 2020
$16.5MBaylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5MPROGRAM IN HUMAN MOLECULAR GENETICST32GM008307 · NIGMS · BAYLOR COLLEGE OF MEDICINE · PI SHAULSKY, GAD · 1990 to 2020
$6.6MMechanism and Regulation of RNA Polymerase II ElongationR01GM097260 · NIGMS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI KAPLAN, CRAIG · 2011 to 2020
$3.3MA powerful web-based discovery platform for rare disease geneticsR01HG009141 · NHGRI · BROAD INSTITUTE, INC. · PI QUINLAN, AARON R, REHM, HEIDI L · 2017 to 2020
$2.9M"Mechanisms of RNA Polymerase II initiation"R01GM120450 · NIGMS · UNIVERSITY OF PITTSBURGH AT PITTSBURGH · PI KAPLAN, CRAIG · 2016 to 2019
$1.7MNHGRI NIH HHS R01 HG009141NHGRI NIH HHS UM1 HG006542NHGRI NIH HHS UM1 HG008898NHGRI NIH HHS UM1 HG008900NIGMS NIH HHS R01 GM097260NIGMS NIH HHS R01 GM120450NIGMS NIH HHS T32 GM008307
Abstract
PubMed holds no abstract for this paper.
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC-ND
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.