ArticlemedRxiv : the preprint server for health sciences2025
Heterozygous variants in
Registry-linked trialOpen access · greenAbstract readPreprint
In one paragraph
Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT02450851 (Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network), which is not on this map. Not yet cited in PubMed.
0numbers the graph read from it
0cells of the map it votes in
0citing 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.
Clinical and Genetic Evaluation of Patients With Undiagnosed Disorders Through the Undiagnosed Diseases Network
Who cites it
0 citing papers in PubMed, 0 citations in OpenAlex.
No citing paper in PubMed yet.
Corrections and comments
- Updated by
Authors and funding
30 authors at 10 institutions in 4 countries.
Mengqi MaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Yiming ZhengDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Mingxi DengDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Shenzhao LuDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Xueyang PanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Xi LuoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Michelle EtoundiJan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA.
David Li-KroegerJan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA.
Kim C WorleyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Lindsay C BurrageDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Lauren S BliedenThe Cullen Eye Institute, Department of Ophthalmology, Baylor College of Medicine, Houston, TX 77030, USA.
Aimee AllworthDivision of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.
Wei-Liang ChenDivision of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.
Giuseppe MerlaLaboratory of Regulatory & Functional Genomics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, Foggia 71013, Italy.
Barbara MandrianiDepartment of Interdisciplinary Medicine, University of Bari "Aldo Moro", Bari 70121, Italy.
Catherine E OttenDepartment of Neurology, University of Washington and Seattle Children's Hospital, Seattle, WA 98195, USA.
Pierre BlancSeqOIA Genomics Platform, Assistance Publique-Hôpitaux de Paris (AP-HP), Paris 75014, France.
Jill A RosenfeldDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Debdeep DuttaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Shinya YamamotoDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.ORCID 0000-0003-2172-8036
Michael F WanglerDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Undiagnosed Diseases Network
Ian A GlassDivision of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.
Jingheng ChenDivision of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.
Elizabeth BlueDivision of Medical Genetics, Department of Medicine, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0002-0633-0305
Paolo PronteraMedical Genetics and Rare Diseases Unit, Hospital of Perugia, Perugia 06129, Italy.
Jeremie RosainLaboratory of Human Genetics of Infectious Diseases, Imagine Institute, Necker Hospital for Sick Children, Paris 75015, France.
Sandrine MarlinGenetics of Rare Ophthalmological, Auditory and Mitochondrial Disorders, Inserm UMR_S1163, Imagine Institute, Paris 75015, France.
Seema R LalaniDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Hugo J BellenDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Baylor College of Medicine · USUniversity of Washington · USChildren's National · USHôpital Necker-Enfants Malades · FRAssistance Publique – Hôpitaux de Paris · FRCasa Sollievo della Sofferenza · ITSeattle Children's Hospital · USUniversity of Bari Aldo Moro · ITUniversity of Perugia · ITUniversity of Washington Medical Center · US
Funding
University 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
$14.8MPilot of New Technologies to Increase the Genomic Diagnosis of Undiagnosed Disease Network (UDN) PatientsU01HG007709 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI BACINO, CARLOS A., LEE, BRENDAN · 2014 to 2022
$14.3MClinical Sequencing Core Facility for the Undiagnosed Diseases Network (UDN)U01HG007942 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI ENG, CHRISTINE · 2014 to 2021
$10.2MPreclinical and Clincial OutcomesP50HD103555 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI Sandesh Chakravarthy Sreenath Nagamani, David Loren Nelson · 2020 to 2026
$9.9MSteps towards a paternal gene activation therapy for Angelman syndromeU54HD083092 · NICHD · BAYLOR COLLEGE OF MEDICINE · PI NELSON, DAVID LOREN, SAMACO, RODNEY C · 2014 to 2019
$7.8MZebrafish CoreU54NS093793 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J · 2015 to 2022
$7.5MExpansion and characterization of the Drosophila Toolkit to study SARS-CoV-2R24OD022005 · OD · BAYLOR COLLEGE OF MEDICINE · PI BELLEN, HUGO J · 2016 to 2023
$7.4MPacific Northwest Undiagnosed Diseases Network Clinical SiteU01HG010233 · NHGRI · UNIVERSITY OF WASHINGTON · PI DIPPLE, KATRINA M, JARVIK, GAIL PAIRITZ · 2018 to 2022
$5.4MA Comprehensive Resource for Manipulating the Drosophila GenomeR24OD031447 · OD · BAYLOR COLLEGE OF MEDICINE · PI HUGO J BELLEN, Oguz Kanca · 2021 to 2026
$5.2MPacific Northwest Undiagnosed Diseases Network Clinical SiteU01NS134355 · NINDS · UNIVERSITY OF WASHINGTON · PI ELIZABETH ELOYCE BLUE, Katrina M Dipple · 2023 to 2026
$3.0MIntramural NIH HHS Z01 OD022005NHGRI NIH HHS U01 HG007709NHGRI NIH HHS U01 HG007942NHGRI NIH HHS U01 HG010233NHGRI NIH HHS U01 HG011744NHGRI NIH HHS U24 HG011746NHGRI NIH HHS UM1 HG006493NICHD NIH HHS P50 HD103555NICHD NIH HHS U54 HD083092NIH HHS R24 OD022005NIH HHS R24 OD031447NINDS NIH HHS U01 NS134355NINDS NIH HHS U54 NS093793
Abstract
Phospholipase C isozymes (PLCs) hydrolyze phosphatidylinositol 4,5-bisphosphate (PIP
Indexed as
Drosophilaphenotypic heterogeneityPhospholipase C
Identifiers
What OpenQuestion holds
Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390
Registered trials
NCT02450851ClinicalTrials.gov
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.