Cargando…

Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels

Professional guidelines dictate that disease severity is a key criterion for carrier screening. Expanded carrier screening, which tests for hundreds to thousands of mutations simultaneously, requires an objective, systematic means of describing a given disease's severity to build screening pane...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lazarin, Gabriel A., Hawthorne, Felicia, Collins, Nicholas S., Platt, Elizabeth A., Evans, Eric A., Haque, Imran S.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4262393/ https://www.ncbi.nlm.nih.gov/pubmed/25494330 http://dx.doi.org/10.1371/journal.pone.0114391

Ejemplares similares

Systematic design and comparison of expanded carrier screening panels
por: Beauchamp, Kyle A, et al.
Publicado: (2018)

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel
por: Arjunan, Aishwarya, et al.
Publicado: (2020)

Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples
por: Ghiossi, Caroline E., et al.
Publicado: (2017)

Smith–Lemli–Opitz syndrome carrier frequency and estimates of in utero mortality rates
por: Lazarin, Gabriel A., et al.
Publicado: (2017)

Clinical utility of expanded carrier screening: results-guided actionability and outcomes
por: Johansen Taber, Katherine A., et al.
Publicado: (2018)

Genetic Counselors’ Perspectives and Practices Regarding Expanded Carrier Screening after Initial Clinical Availability
por: Lazarin, Gabriel A., et al.
Publicado: (2016)

Tay-Sachs Carrier Screening by Enzyme and Molecular Analyses in the New York City Minority Population
por: Mehta, Nikita, et al.
Publicado: (2016)

Inter‐lab concordance of variant classifications establishes clinical validity of expanded carrier screening
por: Kaseniit, Kristjan E., et al.
Publicado: (2019)

Response to Stoll and Resta
por: Lazarin, Gabriel A., et al.
Publicado: (2013)

Changing trends in carrier screening for genetic disease in the United States
por: Nazareth, Shivani B., et al.
Publicado: (2015)

A data-driven evaluation of the size and content of expanded carrier screening panels
por: Ben-Shachar, Rotem, et al.
Publicado: (2019)

Beyond the “Jewish panel”: the importance of offering expanded carrier screening to the Ashkenazi Jewish population
por: Dolitsky, Shelley, et al.
Publicado: (2020)

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals
por: Lazarin, Gabriel A., et al.
Publicado: (2013)

Responsible implementation of expanded carrier screening
por: Henneman, Lidewij, et al.
Publicado: (2016)

Assessment of willingness to pay for expanded carrier screening among women and couples undergoing preconception carrier screening
por: Clarke, Elizabeth V., et al.
Publicado: (2018)

The evolving landscape of expanded carrier screening: challenges and opportunities
por: Kraft, Stephanie A., et al.
Publicado: (2018)

Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines
por: Kaseniit, Kristjan E., et al.
Publicado: (2020)

Expanded carrier screening in gamete donors of Venezuela
por: Urbina, Maria Teresa, et al.
Publicado: (2017)

The use of expanded carrier screening of gamete donors
por: Payne, Molly R, et al.
Publicado: (2021)

Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen
por: Beauchamp, Kyle A., et al.
Publicado: (2019)

Societal implications of expanded universal carrier screening: a scoping review
por: van den Heuvel, Lieke M., et al.
Publicado: (2022)

Considerations of expanded carrier screening: Lessons learned from combined malonic and methylmalonic aciduria
por: Gabriel, Marie Cosette, et al.
Publicado: (2021)

Couples’ experiences with expanded carrier screening: evaluation of a university hospital screening offer
por: van Dijke, Ivy, et al.
Publicado: (2021)

With expanded carrier screening, founder populations run the risk of being overlooked
por: Mathijssen, Inge B., et al.
Publicado: (2017)

The aims of expanded universal carrier screening: Autonomy, prevention, and responsible parenthood
por: van der Hout, Sanne, et al.
Publicado: (2019)

Feasibility of couple-based expanded carrier screening offered by general practitioners
por: Schuurmans, Juliette, et al.
Publicado: (2019)

Current Updates on Expanded Carrier Screening: New Insights in the Omics Era
por: Veneruso, Iolanda, et al.
Publicado: (2022)

The ethics of preconception expanded carrier screening in patients seeking assisted reproduction
por: de Wert, Guido, et al.
Publicado: (2021)

Clinical application value of expanded carrier screening in the population of childbearing age
por: Fang, Yuqin, et al.
Publicado: (2023)

Preconception Expanded Carrier Screening: A Discourse Analysis of Dutch Webpages
por: Jämterud, Sofia Morberg, et al.
Publicado: (2023)

Attitudes of relatives of mucopolysaccharidosis type III patients toward preconception expanded carrier screening
por: Nijmeijer, Stephanie C. M., et al.
Publicado: (2020)

Cystic fibrosis population carrier screening: 2004 revision of American College of Medical Genetics mutation panel
por: Watson, Michael S., et al.
Publicado: (2004)

Expanded universal carrier screening and its implementation within a publicly funded healthcare service
por: Rowe, Charlotte A., et al.
Publicado: (2019)

Outcomes of an International Workshop on Preconception Expanded Carrier Screening: Some Considerations for Governments
por: Molster, Caron M., et al.
Publicado: (2017)

Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology
por: Xi, Yanping, et al.
Publicado: (2020)

Corrigendum to: The ethics of preconception expanded carrier screening in patients seeking assisted reproduction
por: de Wert, Guido, et al.
Publicado: (2021)

The influence of expanded carrier screening in assisted reproductive techniques: changed the ‘game’– review
por: Drettas, Petros, et al.
Publicado: (2023)

Preconception expanded carrier screening: Impact of information presented by text or video on genetic knowledge and attitudes
por: Conijn, Thirsa, et al.
Publicado: (2020)

Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives
por: Holtkamp, Kim C.A., et al.
Publicado: (2017)

Views of patients and parents of children with genetic disorders on population‐based expanded carrier screening
por: Woudstra, Anke J., et al.
Publicado: (2022)

Cannot write session to /tmp/vufind_sessions/sess_10982qum7s0j3og76ee9c9hbat