Cargando…

The known unknown: the challenges of genetic variants of uncertain significance in clinical practice

Detalles Bibliográficos
Autor principal:	Hoffman-Andrews, Lily
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2018
Materias:	Notes & Developments
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5965500/ https://www.ncbi.nlm.nih.gov/pubmed/29868193 http://dx.doi.org/10.1093/jlb/lsx038

Ejemplares similares

Removing uncertainty from variants of unknown significance
por: McNally, Elizabeth M.
Publicado: (2023)

The known knowns, known unknowns, and unknown unknowns of surveys and sleep
por: Shaker, Marcus, et al.
Publicado: (2022)

Predation risk assessment based on uncertain information: interacting effects of known and unknown cues
por: Feyten, Laurence E A, et al.
Publicado: (2019)

Cancer patients’ understandings of genetic variants of uncertain significance in clinical care
por: Amano, Yael, et al.
Publicado: (2022)

Counseling Challenges with Variants of Uncertain Significance and Incidental Findings in Prenatal Genetic Screening and Diagnosis
por: Westerfield, Lauren, et al.
Publicado: (2014)

Sepsis-related stress response: known knowns, known unknowns, and unknown unknowns
por: Peng, Jinmin, et al.
Publicado: (2010)

Known unknowns and unknown unknowns
por: Burki, Talha
Publicado: (2018)

Cryptic or Silent? The Known Unknowns, Unknown Knowns, and Unknown Unknowns of Secondary Metabolism
por: Hoskisson, Paul A., et al.
Publicado: (2020)

Variants of Uncertain Significance and “Missing Pathogenicity”
por: Fatkin, Diane, et al.
Publicado: (2020)

The known and the unknown
Publicado: (2010)

Rates and Classification of Variants of Uncertain Significance in Hereditary Disease Genetic Testing
por: Chen, Elaine, et al.
Publicado: (2023)

Mitophagy in yeast: known unknowns and unknown unknowns
por: Abeliovich, Hagai
Publicado: (2023)

Germline variants of uncertain significance, their frequency, and clinico-pathological features in a cohort of Sri Lankan patients with hereditary breast cancer
por: Gunawardena, Kawmadi, et al.
Publicado: (2023)

On Unrooted and Root-Uncertain Variants of Several Well-Known Phylogenetic Network Problems
por: van Iersel, Leo, et al.
Publicado: (2017)

A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond–Blackfan anemia
por: Aspesi, Anna, et al.
Publicado: (2018)

Functional assays provide a robust tool for the clinical annotation of genetic variants of uncertain significance
por: Woods, Nicholas T, et al.
Publicado: (2016)

Missense Variants of Uncertain Significance: A Powerful Genetic Tool for Function Discovery with Clinical Implications
por: Sessa, Gaetana, et al.
Publicado: (2021)

Systematic use of phenotype evidence in clinical genetic testing reduces the frequency of variants of uncertain significance
por: Johnson, Britt, et al.
Publicado: (2022)

Restless Legs Syndrome: Known Knowns and Known Unknowns
por: Antelmi, Elena, et al.
Publicado: (2022)

Using general practitioners with an extended role in spinal practice for the initial assessment of patients referred to spinal surgeons: preliminary experience and challenges
por: Whittle, Ian R., et al.
Publicado: (2023)

Clinical significance of variants of unknown significances in BRCA genes
por: Choi, Min Chul
Publicado: (2019)

An evaluation of the clinical microsystems approach in general practice quality improvement
por: Abrahamson, Vanessa, et al.
Publicado: (2020)

Characterization of Genetic Variants of Uncertain Significance for the ALPL Gene in Patients With Adult Hypophosphatasia
por: Sanabria-de la Torre, Raquel, et al.
Publicado: (2022)

Known and unknown matter
por: Ellis, Jonathan Richard
Publicado: (1994)

Genetic counselling for infertile men of known and unknown etiology
por: Babul-Hirji, Riyana, et al.
Publicado: (2021)

SARS-CoV-2 variants of concern: the knowns and unknowns
por: Lessells, Richard J.
Publicado: (2021)

Influenza viruses and coronaviruses: Knowns, unknowns, and common research challenges
por: Terrier, Olivier, et al.
Publicado: (2021)

Umbilical Lesions: A Cluster of Known Unknowns and Unknown Unknowns
por: Das, Aditi
Publicado: (2019)

The functional impact of variants of uncertain significance in BRCA2
por: Mesman, Romy L. S., et al.
Publicado: (2018)

Views of Israeli healthcare professionals regarding communication of genetic variants of uncertain significance to patients
por: Levin Fridman, Alma, et al.
Publicado: (2022)

Japanese Encephalitis Virus in Australia: From Known Known to Known Unknown
por: van den Hurk, Andrew F., et al.
Publicado: (2019)

Engineered Accumulation of Bicarbonate in Plant Chloroplasts: Known Knowns and Known Unknowns
por: Rottet, Sarah, et al.
Publicado: (2021)

Renal denervation in the antihypertensive arsenal – knowns and known unknowns
por: Messerli, Franz H., et al.
Publicado: (2023)

Functional classification of DDOST variants of uncertain clinical significance in congenital disorders of glycosylation
por: Kas, Sjors M., et al.
Publicado: (2023)

Planning for known and unknown risks
por: Brossman, Charles
Publicado: (2016)

Viral Aggregation: The Knowns and Unknowns
por: Pradhan, Swechchha, et al.
Publicado: (2022)

Virophages—Known and Unknown Facts
por: Tokarz-Deptuła, Beata, et al.
Publicado: (2023)

The known, unknown, and unknown unknowns of cell-cell communication in planarian regeneration
por: Chen, Jia-Jia, et al.
Publicado: (2023)

The Clinical Significance of Unknown Sequence Variants in BRCA Genes
por: Calò, Valentina, et al.
Publicado: (2010)

Vitamin D deficiency and supplementation in critical illness—the known knowns and known unknowns
por: Nair, Priya, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_regfjgq2r66ovfcu36t1lgcjk6