ArticleAmerican journal of human genetics2018
Bi-allelic CCDC47 Variants Cause a Disorder Characterized by Woolly Hair, Liver Dysfunction, Dysmorphic Features, and Global Developmental Delay.
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Article in American journal of human genetics, 2018. 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
1.3field-weighted citation impact, top 22% of its field
What it found
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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.
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Who cites it
13 citing papers in PubMed, 28 citations in OpenAlex.
- Comprehensive Analysis of the Roles of the CCDC Protein Family Play in a Range of 58 Disease Processes.Applied biochemistry and biotechnology · 2026Review
- Defining the interactome of the pancreas-specific SPCA2 isoform (SPCA2C) identifies unique links to store-operated CaThe FEBS journal · 2025Article
- Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.Genome medicine · 2025Article
- Genetic architecture of thermotolerance traits in beef cattle: a novel integration of SNP and breed-of-origin effects.Frontiers in genetics · 2025Article
- Integrated Transcriptome Analysis of lncRNA, miRNA, and mRNA Reveals key Regulatory Modules for Polycystic Ovary Syndrome.Phenomics (Cham, Switzerland) · 2024Article
- Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.American journal of human genetics · 2024Article
- Clinical Characterization and Underlying Genetic Findings in Brazilian Patients with Syndromic Microcephaly Associated with Neurodevelopmental Disorders.Molecular neurobiology · 2024Article
- Article
- Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.American journal of human genetics · 2022Article
- The mechanisms of integral membrane protein biogenesis.Nature reviews. Molecular cell biology · 2022Review
- The Molecular Biodiversity of Protein Targeting and Protein Transport Related to the Endoplasmic Reticulum.International journal of molecular sciences · 2021Review
- High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.American journal of human genetics · 2021Article
- Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
29 authors at 8 institutions in 3 countries.
Marie MorimotoNational Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.
Helen Waller-EvansSchool of Biosciences, Cardiff University, Cardiff CF10 3AX, UK.
Zineb AmmousThe Community Health Clinic, Topeka, IN 46571, USA.
Xiaofei SongDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Kevin A StraussClinic for Special Children, Strasburg, PA 17579, USA.
Davut PehlivanDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Claudia Gonzaga-JaureguiRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
Erik G PuffenbergerClinic for Special Children, Strasburg, PA 17579, USA.
Charles R HolstBioElectron Technology Corporation, Mountain View, CA 94043, USA.
Ender KaracaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Karlla W BrigattiClinic for Special Children, Strasburg, PA 17579, USA.
Emily MaguireSchool of Biosciences, Cardiff University, Cardiff CF10 3AX, UK.
Zeynep H Coban-AkdemirDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Akiko AmagataBioElectron Technology Corporation, Mountain View, CA 94043, USA.
C Christopher LauNational Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.
Xenia Chepa-LotreaNational Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.
Ellen MacnamaraNational Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.
Tulay TosDepartment of Medical Genetics, Dr. Sami Ulus Research and Training Hospital of Women's and Children's Health and Diseases, Ankara 06080, Turkey.
Sedat IsikayDepartment of Physiotherapy and Rehabilitation, Hasan Kalyoncu University, School of Health Sciences, Gaziantep 27000, Turkey.
Michele NehrebeckyNational Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.
John D OvertonRegeneron Genetics Center, Regeneron Pharmaceuticals Inc., Tarrytown, NY 10591, USA.
Matthew KleinBioElectron Technology Corporation, Mountain View, CA 94043, USA.
Thomas C MarkelloNational Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA.
Jennifer E PoseyDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
David R AdamsNational Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
Emyr Lloyd-EvansSchool of Biosciences, Cardiff University, Cardiff CF10 3AX, UK.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA; Texas Children's Hospital, Houston, TX 77030, USA.
William A GahlNational Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.
May Christine V MalicdanNational Institutes of Health Undiagnosed Diseases Program, Common Fund, Office of the Director, National Institutes of Health, Bethesda, MD 20892, USA; Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA; Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address: maychristine.malicdan@nih.gov.
National Institutes of Health · USBaylor College of Medicine · USBioElectronics (United States) · USCardiff University · GBClinic for Special Children · USRegeneron (United States) · USHasan Kalyoncu University · TRMinistry of Health · TR
Funding
Human Biochemical GeneticsZIAHG000215 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2009 to 2025
$72.6MBaylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5MSTRUCTURAL VARIATION IN NEUROLOGICAL DISEASER35NS105078 · NINDS · BAYLOR COLLEGE OF MEDICINE · PI LUPSKI, JAMES R. · 2018 to 2025
$6.0MIndividual genomic analyses to discover the molecular basis and mechanisms contributing to adult-onset diseaseK08HG008986 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI POSEY, JENNIFER ELLEN · 2017 to 2021
$831kClinical Pursuits by the NHGRI Office of the Clinical DirectorZIAHG200402 · NHGRI · NATIONAL HUMAN GENOME RESEARCH INSTITUTE · PI GAHL, WILLIAM · 2019 to 2019
$122kNHGRI NIH HHS K08 HG008986NHGRI NIH HHS UM1 HG006542NINDS NIH HHS R35 NS105078
Abstract
Ca
Indexed as
Ca(2+) signalingcaluminCCDC47coiled-coil domain containing 47endoplasmic reticulumrare diseasestore-operated Ca(2+) entryundiagnosed diseasewhole-exome sequencing
Identifiers
What OpenQuestion holds
Textmetadata
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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.