ArticleJournal of genetic counseling2008
Standardized human pedigree nomenclature: update and assessment of the recommendations of the National Society of Genetic Counselors.
Article in Journal of genetic counseling, 2008. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 83 papers, 2 of them syntheses that pooled it.
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
83 citing papers in PubMed, 2 syntheses or guidelines pooled it.
- Japanese society for cancer of the colon and rectum (JSCCR) guidelines 2024 for the clinical practice of hereditary colorectal cancer.International journal of clinical oncology · 2026Guideline
- Fabry disease practice guidelines: recommendations of the National Society of Genetic Counselors.Journal of genetic counseling · 2013Guideline
- High-risk screening for Anderson-Fabry disease in patients with cardiac, renal, or neurological manifestations.Journal of human genetics · 2019Trial
- f-treeGC: a questionnaire-based family tree-creation software for genetic counseling and genome cohort studies.BMC medical genetics · 2017Trial
- Developmental stuttering with common and complex phenotypes.Developmental medicine and child neurology · 2026Article
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- A severe neurodevelopmental syndrome linked to a South Asian founder variant in the UFMylation adaptor CDK5RAP3.Acta neuropathologica · 2026Article
- Pedixplorer: a Bioconductor package to streamline pedigree design and visualization.Bioinformatics (Oxford, England) · 2025Article
- Assessing and attending to psychosocial concerns in genetic counseling: Proposing the BATHE method.Journal of genetic counseling · 2025Article
- X-Linked Adrenoleukodystrophy in a Moroccan Patient: Genetic Diagnosis Leads to Presymptomatic Testing and Family Counseling.Balkan journal of medical genetics : BJMG · 2025Article
- A step forward in genetic counselling: defining practice and ethics through the Genetic Counselling Practice Consortium in Hong Kong.Journal of human genetics · 2025Review
- Congenital Titinopathy: Comprehensive Characterization of the Most Severe End of the Disease Spectrum.Annals of neurology · 2025Article
- Correction to: Practice resource-focused revision: Standardized pedigree nomenclature update centered on sex and gender inclusivity: A practice resource of the National Society of Genetic Counselors.Journal of genetic counseling · 2025Article
- A Dyadic Nosology for Osteogenesis Imperfecta and Bone Fragility Syndromes 2024.Calcified tissue international · 2024Review
- Genetic Evaluation for Monogenic Disorders of Low Bone Mass and Increased Bone Fragility: What Clinicians Need to Know.Current osteoporosis reports · 2024Review
- The Tehran longitudinal family-based cardiometabolic cohort study sheds new light on dyslipidemia transmission patterns.Scientific reports · 2024Article
- Identification of a Novel Mitochondrial tRNA Mutation in Chinese Family with Type 2 Diabetes Mellitus.Pharmacogenomics and personalized medicine · 2024Article
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- The prevalence of lynch syndrome (DNA mismatch repair protein deficiency) in patients with primary localized prostate cancer using immunohistochemistry screening.Hereditary cancer in clinical practice · 2023Article
- UK recommendations for the management of transgender and gender-diverse patients with inherited cancer risks.BJC reports · 2023Review
23 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In 1995, the Pedigree Standardization Task Force (PSTF) of the National Society of Genetic Counselors (NSGC) proposed a system of pedigree nomenclature. Recently, the PSTF (now called the Pedigree Standardization Work Group or PSWG) sought evidence that the published symbols met the needs of health professionals, were incorporated into health professional training and were utilized in publications. We searched PubMed and reference lists of select publications, reviewed the Instructions for Authors of several journals, searched the websites of professional societies, sought comment from the membership of the NSGC, and looked at recommendations and training practices of various health professional organizations. Many journals still do not cite specific standards for pedigrees, but those found cited the PSTF nomenclature. We did not find significant objections or alternatives to the 1995 nomenclature. Based on our review, we propose only a few minor stylistic changes to the pedigree symbols. The pedigree nomenclature of the NSGC is the only consistently acknowledged standard for drawing a family health history. We recommend regular and continued review of these pedigree standards to determine if additional symbols are needed to accommodate changes in clinical practice to ensure that the symbols continue to meet the needs of health professionals and researchers as well as adhere to evolving ethical and privacy standards. All health professionals, trainees, and researchers should be made aware of the utility of using a common pedigree nomenclature in clinical practice and publication. This will become particularly important as electronic medical records become more widely utilized.
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Registered trials
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.