ArticleJournal of medical genetics2023
Optimising clinical care through
Open access · greenAbstract read
In one paragraph
Article in Journal of medical genetics, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 19 papers.
0numbers the graph read from it
0cells of the map it votes in
19citing papers in PubMed
4.1field-weighted citation impact, top 5% 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
19 citing papers in PubMed, 24 citations in OpenAlex.
- Distinct mutational landscapes for germline and somatic cancer variants in forty tumor suppressor genes.American journal of human genetics · 2026Article
- Hereditary diffuse gastric cancer in progress: Comparative lessons from Lynch syndrome.European journal of human genetics : EJHG · 2026Review
- Validation structures for sequence variants of uncertain significance in hereditary cancer.European journal of human genetics : EJHG · 2026Review
- Distinct mutational landscapes when comparing germline and somatic cancer variants in forty tumor suppressor genes.bioRxiv : the preprint server for biology · 2026Article
- The Changing Landscape of Hereditary Diffuse Gastric Cancer.Journal of gastric cancer · 2026Review
- Characteristics predicting reduced penetrance variants in the high-risk cancer predisposition gene TP53.HGG advances · 2025Article
- Adolescents and young adults with germline CDH1 variants and the risk of overtreatment.Journal of the National Cancer Institute · 2025Article
- Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.Genome medicine · 2024Article
- Unrecognised actionability for breast cancer risk variants identified in a national-level review of Australian familial cancer centres.European journal of human genetics : EJHG · 2024Article
- Article
- Aberrant transcription caused by an intronic non-canonical CDH1 variant.Familial cancer · 2024Article
- Identification of New Pathogenic Variants of Hereditary Diffuse Gastric Cancer.Cancer research and treatment · 2024Article
- Co-observation of germline pathogenic variants in breast cancer predisposition genes: Results from analysis of the BRIDGES sequencing dataset.American journal of human genetics · 2024Article
- Evidence-based recommendations for gene-specific ACMG/AMP variant classification from the ClinGen ENIGMA BRCA1 and BRCA2 Variant Curation Expert Panel.American journal of human genetics · 2024Article
- Article
- Article
- CDH1 Genotype Exploration in Women With Hereditary Lobular Breast Cancer Phenotype.JAMA network open · 2024Article
- Recommendations for the classification of germline variants in the exonuclease domain of POLE and POLD1.Genome medicine · 2023Article
- Combining clinical and molecular characterization of CDH1: a multidisciplinary approach to reclassification of a splicing variant.Familial cancer · 2023Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
25 authors at 18 institutions in 5 countries.
Xi Luo *Department of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA.
Jamie L Maciaszek *Department of Pathology, St Jude Children's Research Hospital, Memphis, Tennessee, USA.
Bryony A ThompsonDepartment of Pathology, Royal Melbourne Hospital, Melbourne, Victoria, Australia.
Huei San LeongDepartment of Pathology, Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia.
Katherine DixonDepartment of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.
Sónia SousaInstituto de Investigação e Inovação em Saúde - (i3S), University of Porto, Porto, Portugal.
Michael AndersonInvitae Corporation, San Francisco, California, USA.
Maegan E RobertsThe Ohio State University, Columbus, Ohio, USA.
Kristy LeeDepartment of Genetics, The University of North Carolina at Chapel Hill, Chapel Hill, North Carolina, USA.
Amanda B SpurdlePopulation Health Program, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia.ORCID 0000-0003-1337-7897
Arjen R MensenkampDepartment of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.ORCID 0000-0003-3805-877X
Terra BrannanAmbry Genetics, Aliso Viejo, California, USA.
Carolina PardoInvitae Corporation, San Francisco, California, USA.
Liying ZhangDepartment of Pathology and Laboratory Medicine, University of California Los Angeles, Los Angeles, California, USA.ORCID 0000-0003-4517-0751
Tina PesaranAmbry Genetics, Aliso Viejo, California, USA.
Sainan WeiDepartment of Pathology and Laboratory Medicine, University of Kentucky, Lexington, Kentucky, USA.ORCID 0000-0001-9394-186X
Grace-Ann FasayeGenetics Branch, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Bethesda, Maryland, USA.
Chimene KesserwanNational Institutes of Health, Bethesda, Maryland, USA.
Brian H ShirtsDepartment of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington, USA.
Jeremy L DavisSurgical Oncology Program, National Cancer Institute, Bethesda, Maryland, USA.
Carla OliveiraInstituto de Investigação e Inovação em Saúde - (i3S), University of Porto, Porto, Portugal.
Sharon E PlonDepartment of Pediatrics/Hematology-Oncology, Baylor College of Medicine, Houston, Texas, USA.
Kasmintan A SchraderDepartment of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.ORCID 0000-0002-7413-4314
Rachid KaramAmbry Genetics, Aliso Viejo, California, USA rkaram@ambrygen.com.ORCID 0000-0002-5645-498X
ClinGen CDH1 Variant Curation Expert Panel
Ambry Genetics (United States) · USBaylor College of Medicine · USInvitae (United States) · USNational Institutes of Health · USUniversidade do Porto · PTBC Cancer Agency · CANational Cancer Institute · USPeter MacCallum Cancer Centre · AUQIMR Berghofer Medical Research Institute · AURadboud University Nijmegen · NLSt. Jude Children's Research Hospital · USThe Ohio State University · USThe Royal Melbourne Hospital · AUUniversity of British Columbia · CAUniversity of California, Los Angeles · USUniversity of Kentucky · USUniversity of North Carolina at Chapel Hill · USUniversity of Washington · US
Funding
Baylor College of Medicine/Stanford University Clinical Genome Resource (CLINGEN)U24HG009649 · NHGRI · BAYLOR COLLEGE OF MEDICINE · PI TERI Ellen KLEIN, Aleksandar Milosavljevic · 2021 to 2026
$31.5MThe Clinical Genome Resource – Advancing genomic medicine through biocuration and expert assessment of genes and variants at scaleU24HG009650 · NHGRI · UNIV OF NORTH CAROLINA CHAPEL HILL · PI JONATHAN S BERG, Jessica Ezzell Hunter · 2021 to 2026
$30.0MThe Future of PharmGKB Funding Under NHGRIU41HG009649 · NHGRI · STANFORD UNIVERSITY · PI BUSTAMANTE, CARLOS DANIEL · 2017 to 2020
$13.4MNHGRI NIH HHS U24 HG009649NHGRI NIH HHS U24 HG009650NHGRI NIH HHS U41 HG009649
Abstract
backgroundGermline pathogenic variants in
methods
resultsUpdated
conclusionsThe development and evolution of
Indexed as
Genetic VariationStomach NeoplasmsAntigens, CDCadherinsGenetic TestingGerm CellsGerm-Line MutationHumansAntigens, CDCadherinsCDH1 protein, humanGastrointestinal DiseasesGenetic Predisposition to DiseaseGenetics, MedicalGenetic Variation
Identifiers
What OpenQuestion holds
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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.