Article in Clinical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
0numbers the graph read from it
0cells of the map it votes in
9citing papers in PubMed
6.0field-weighted citation impact, top 3% of its field
1 · What the graph read from it
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.
2 · The registry
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.
3 · Its place in the literature
Who cites it
9 citing papers in PubMed, 23 citations in OpenAlex.
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
5 · Who and what money
Authors and funding
27 authors at 9 institutions in 4 countries.
Rabia FaridiLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, Maryland, USA.ORCID 0000-0001-7788-8755
Rizwan YousafLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, Maryland, USA.ORCID 0000-0003-2323-0004
Shoujun GuAuditory Development and Restoration Program, NIDCD, NIH, Bethesda, Maryland, USA.ORCID 0000-0003-1041-3813
Sayaka InagakiLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, Maryland, USA.ORCID 0000-0001-9064-0762
Amy E TurriffOphthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, Maryland, USA.ORCID 0000-0002-8065-7445
Keith PelstringDivision of Medical Genetics, Dayton Children's Hospital, Dayton, Ohio, USA.ORCID 0000-0002-9884-3238
Bin GuanOphthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, Maryland, USA.ORCID 0000-0001-5986-5189
Amelia NaikOphthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, Maryland, USA.ORCID 0000-0001-7764-3619
Andrew J GriffithOtolaryngology Branch, NIDCD, NIH, Bethesda, Maryland, USA.ORCID 0000-0002-5684-3109
Samuel Mawuli AdadeyWest African Centre for Cell Biology of Infectious Pathogens (WACCBIP), University of Ghana, Accra, Ghana.ORCID 0000-0002-1993-2786
Elvis Twumasi AboagyeWest African Centre for Cell Biology of Infectious Pathogens (WACCBIP), University of Ghana, Accra, Ghana.ORCID 0000-0002-2994-3761
Gordon A AwandareWest African Centre for Cell Biology of Infectious Pathogens (WACCBIP), University of Ghana, Accra, Ghana.ORCID 0000-0002-8793-3641
Robert J MorellGenomics and Computational Biology Core, NIDCD, NIH, Bethesda, Maryland, USA.ORCID 0000-0003-1537-7356
Ekaterini TsilouOphthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, Maryland, USA.ORCID 0000-0001-6887-9398
Ambroise WonkamDivision of Human Genetics, Department of Medicine, Faculty of Health Sciences, University of Cape Town, Cape Town, South Africa.ORCID 0000-0003-1420-9051
Isabelle SchrauwenCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, New York, USA.ORCID 0000-0001-7310-6082
Suzanne M LealCenter for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, New York, USA.ORCID 0000-0003-1231-8174
Hela AzaiezMolecular Otolaryngology and Renal Research Laboratories, Department of Otolaryngology, Carver College of Medicine, University of Iowa, Iowa City, Iowa, USA.ORCID 0000-0002-2863-6970
Sheikh RiazuddinAllama Iqbal Medical Research Centre, Jinnah Hospital Complex, Lahore, Pakistan.ORCID 0000-0001-6012-0192
Robert B HufnagelOphthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, Maryland, USA.ORCID 0000-0003-3015-3545
Michael HoaAuditory Development and Restoration Program, NIDCD, NIH, Bethesda, Maryland, USA.ORCID 0000-0001-7469-2909
Wadih M ZeinOphthalmic Genetics and Visual Function Branch, National Eye Institute, NIH, Bethesda, Maryland, USA.ORCID 0000-0002-3771-6120
J Karl de DiosDivision of Medical Genetics, Dayton Children's Hospital, Dayton, Ohio, USA.ORCID 0000-0001-9125-0117
Thomas B FriedmanLaboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders (NIDCD), National Institutes of Health (NIH), Bethesda, Maryland, USA.ORCID 0000-0003-4614-6630
National Institutes of Health · USNational Eye Institute · USUniversity of Ghana · GHColumbia University Irving Medical Center · USDayton Children's Hospital · USGenVec · USJinnah Postgraduate Medical Center · PKJohns Hopkins University · USUniversity of Iowa · US
Funding
Identification of Genes Causing Syndromic And Nonsyndromic Hearing ImpairmentZIADC000039 · NIDCD · NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS · PI FRIEDMAN, THOMAS · 2009 to 2025
$48.7M
Clinical Analysis Of Disorders Of Hearing And BalanceZIADC000064 · NIDCD · NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS · PI HERTZANO, RONNA · 2009 to 2025
$25.2M
Myosin XVA and Other Genes Essential for Stereocilia MorphogenesisZIADC000048 · NIDCD · NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS · PI FRIEDMAN, THOMAS · 2009 to 2025
$23.6M
Genomic and Computational Biology Support for NIDCD Intramural ResearchZICDC000086 · NIDCD · NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS · PI MORELL, ROBERT J · 2015 to 2025
$19.8M
National Ophthalmic Disease Genotyping and Phenotyping Network - eyeGENEZICEY000478 · NEI · NATIONAL EYE INSTITUTE · PI GOETZ, KERRY · 2009 to 2025
$14.8M
Cellular and Molecular Pathways for Hearing Restoration in the Adult Inner EarZIADC000088 · NIDCD · NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS · PI HOA, MICHAEL · 2015 to 2025
$14.0M
Identification of Nonsyndromic Hearing Impairment GenesR01DC003594 · NIDCD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI SUZANNE M LEAL · 2004 to 2026
$7.7M
Identification of Genes Causing Syndromic And Nonsyndromic Hearing ImpairmentZ01DC000039 · NIDCD · NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS · PI FRIEDMAN, THOMAS BAER · 1997 to 2008
$7.2M
Innovative approaches to elucidate the genetic etiology of age-related hearing impairment and tinnitusR01DC017712 · NIDCD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI Paul L. Auer, Andrew DeWan · 2019 to 2026
$4.7M
INTEGRATIVE MECHANISMS OF CORTICAL NEURONSR01DC000086 · NIDCD · YALE UNIVERSITY · PI SHEPHERD, GORDON · 1989 to 2010
$3.6M
Molecular Analysis Of Human Hereditary DeafnessZ01DC000060 · NIDCD · NATIONAL INSTITUTE ON DEAFNESS AND OTHER COMMUNICATION DISORDERS · PI GRIFFITH, ANDREW J · 2001 to 2008
$3.0M
Localization of Nonsyndromic Hearing Impairment GenesR01DC011651 · NIDCD · COLUMBIA UNIVERSITY HEALTH SCIENCES · PI LEAL, SUZANNE M · 2011 to 2020
Hereditary deafness and retinal dystrophy are each genetically heterogenous and clinically variable. Three small unrelated families segregating the combination of deafness and retinal dystrophy were studied by exome sequencing (ES). The proband of Family 1 was found to be compound heterozygous for NM_004525.3: LRP2: c.5005A > G, p.(Asn1669Asp) and c.149C > G, p.(Thr50Ser). In Family 2, two sisters were found to be compound heterozygous for LRP2 variants, p.(Tyr3933Cys) and an experimentally confirmed c.7715 + 3A > T consensus splice-altering variant. In Family 3, the proband is compound heterozygous for a consensus donor splice site variant LRP2: c.8452_8452 + 1del and p.(Cys3150Tyr). In mouse cochlea, Lrp2 is expressed abundantly in the stria vascularis marginal cells demonstrated by smFISH, single-cell and single-nucleus RNAseq, suggesting that a deficiency of LRP2 may compromise the endocochlear potential, which is required for hearing. LRP2 variants have been associated with Donnai-Barrow syndrome and other multisystem pleiotropic phenotypes different from the phenotypes of the four cases reported herein. Our data expand the phenotypic spectrum associated with pathogenic variants in LRP2 warranting their consideration in individuals with a combination of hereditary hearing loss and retinal dystrophy.
Indexed as
DeafnessHearing LossHearing Loss, SensorineuralMyopiaRetinal DystrophiesAnimalsHumansLow Density Lipoprotein Receptor-Related Protein-2MiceMutationPedigreeLow Density Lipoprotein Receptor-Related Protein-2LRP2 protein, humanLrp2 protein, mousedeafnessDonnai-Barrow syndromeLRP2megalinretinal dystrophyRNAseqstria vascularis
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.
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy. · full record | OpenQuestion