About: Evaluation of the validity and utility of genetic testing for rare diseases

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scientific article published on January 2010

Attributes	Values
rdf:type	Item
description	videnskabelig artikel (da) article científic (ca) articolo scientifico (it) artigo científico (pt) bilimsel makale (tr) vedecký článok (sk) vetenskaplig artikel (sv) vědecký článek (cs) wetenschappelijk artikel (nl) wissenschaftlicher Artikel (de) научни чланак (sr) article scientifique (fr) artículu científicu espublizáu en 2010 (ast) наукова стаття, опублікована в січні 2010 (uk) scientific article published on January 2010 (en) مقالة علمية نشرت في يناير 2010 (ar)
publication date	wds:Q37786243-CCCB7F43-2EFA-4BAF-B7EE-C11DD4E12FDA
publication date	2010-01-01 00:00:00Z (xsd:dateTime)
language of work or name	wds:Q37786243-04C7CC3D-5A5C-462C-9D91-0B7E24C54F13
language of work or name	English
cites work	wds:Q37786243-9F49F265-11D4-498A-9A6C-86BBFE776ECF
cites work	ACOG Committee Opinion. Number 325, December 2005. Update on carrier screening for cystic fibrosis
author name string	wds:Q37786243-327EB2A7-01DA-4A18-9AD7-9E24AAD35E81 wds:Q37786243-38535AE8-051D-423C-872D-CDA135E4DBE9
author name string	Scott D Grosse Lisa Kalman
rdfs:label	Evaluation of the validity and utility of genetic testing for rare diseases (en) Evaluation of the validity and utility of genetic testing for rare diseases (nl) Evaluation of the validity and utility of genetic testing for rare diseases (ast)
skos:prefLabel	Evaluation of the validity and utility of genetic testing for rare diseases (en) Evaluation of the validity and utility of genetic testing for rare diseases (nl) Evaluation of the validity and utility of genetic testing for rare diseases (ast)
name	Evaluation of the validity and utility of genetic testing for rare diseases (en) Evaluation of the validity and utility of genetic testing for rare diseases (nl) Evaluation of the validity and utility of genetic testing for rare diseases (ast)
author	wds:Q37786243-EDBFD3C8-52F1-492C-819E-BF21D89259FF
author	Muin J. Khoury
title	wds:Q37786243-D85608E5-718B-4F86-B573-081505A9BAA3
title	Evaluation of the validity and utility of genetic testing for rare diseases (en)
page(s)	wds:Q37786243-534BB045-9FA3-44E5-A68C-7E4AD349C914
page(s)	115-131
instance of	wds:Q37786243-1255D834-A82C-4E5D-8A47-73BC34A8D797
instance of	scholarly article
main subject	wds:Q37786243-8EA12E9E-D764-4666-9328-788A368DDD69
main subject	rare disease
PubMed ID	wds:Q37786243-B4024081-E00D-4E0A-BF1C-E9F39EE3A73B
PubMed ID	http://rdf.ncbi.nlm.nih.gov/pubchem/reference/20824443
PubMed ID	20824443
published in	wds:Q37786243-55C05A90-7FB6-434F-B004-24BA37D86C0B
published in	Advances in Experimental Medicine and Biology
volume	wds:Q37786243-A725C3D7-FB92-444B-92A1-8C7659D0EB71
volume	686
DOI	wds:Q37786243-39C68440-B505-489F-BD08-66AA72F530A6
DOI	http://dx.doi.org/10.1007/978-90-481-9485-8_8
DOI	10.1007/978-90-481-9485-8_8
Fatcat ID	wds:Q37786243-E42D94E3-BFB0-4BA4-A26A-7BCFE623EBD2
Fatcat ID	release_5tyvajpokzatzpdjelk5zzumma
is about of	https://www.wikidata.org/wiki/Special:EntityData/Q37786243
is cites work of	Impact of direct-to-consumer genomic testing at long term follow-up Adopting orphans: comprehensive genetic testing of Mendelian diseases of childhood by next-generation sequencing The genome clinic: a multidisciplinary approach to assessing the opportunities and challenges of integrating genomic analysis into clinical care. Return of incidental findings in genomic medicine: measuring what patients value--development of an instrument to measure preferences for information from next-generation testing (IMPRINT). Characterizing genetic variants for clinical action Molecular genetic testing and the future of clinical genomics Why is genetic screening for autosomal dominant disorders underused in families? The case of hereditary hemorrhagic telangiectasia The Informed Cohort Oversight Board: From Values to Architecture Genetics and treatment options for recurrent acute and chronic pancreatitis The beliefs, motivations, and expectations of parents who have enrolled their children in a genetic biorepository Issues surrounding the health economic evaluation of genomic technologies Autosomal recessive Emery-Dreifuss muscular dystrophy caused by a novel mutation (R225Q) in the lamin A/C gene identified by exome sequencing. Personal utility in genomic testing: is there such a thing? Patient experience and utility of genetic information: a cross-sectional study among patients tested for cancer susceptibility and thrombophilia. Parents' preferences for return of results in pediatric genomic research Guidelines for return of research results from pediatric genomic studies: deliberations of the Boston Children's Hospital Gene Partnership Informed Cohort Oversight Board The development of a preference-setting model for the return of individual genomic research results Participant Satisfaction With a Preference-Setting Tool for the Return of Individual Research Results in Pediatric Genomic Research. Clinical penetrance in hereditary hemochromatosis: estimates of the cumulative incidence of severe liver disease among HFE C282Y homozygotes Points to consider in assessing and appraising predictive genetic tests The challenge of implementing genetic tests with clinical utility while avoiding unsound applications International differences in the evaluation of conditions for newborn bloodspot screening: a review of scientific literature and policy documents. Parents' Experience with Pediatric Microarray: Transferrable Lessons in the Era of Genomic Counseling. Was it worth it? Patients' perspectives on the perceived value of genomic-based individualized medicine Diagnosis of rare diseases under focus: impacts for Canadian patients. Living laboratory: whole-genome sequencing as a learning healthcare enterprise Association of PNPLA3 rs738409 and TM6SF2 rs58542926 with health services utilization in a population-based study
is cites work of	wds:Q28655937-4E7996FD-4EA1-40C7-AA41-3474AA2BC414 wds:Q48157652-64AD2D3C-81B5-4987-9E7D-1C718F3A065B wds:Q45304654-65E3352B-855A-4437-906C-D0257C61A72D wds:Q33815053-8BF089C2-FFFF-450D-8CD9-960DD1F965DC wds:Q30557139-01D806A1-0033-42B0-95FE-C77A83F34BCB wds:Q37148886-0AD6812A-70CD-43A7-89E3-2A85C292D177 wds:Q34581965-56BA2DBE-059F-4D9E-B244-E01AF5736FF4 wds:Q35194662-CC330A5B-DE1E-4E09-B445-369E51CBEB31 wds:Q39276157-E9722E6A-F984-4AE2-AAAA-2882DC44F1A3 wds:Q47564559-FD8D61B0-6841-4623-A8CA-08F9BB6FF536 wds:Q38193764-0E4124F6-5334-4AA8-A2D3-B442342887E4 wds:Q37086591-72F69E39-42D4-4B1A-83EB-194913BA7DC8 wds:Q36698414-7BE2AE9A-F937-4F4B-9D08-A1A5BBB7B96C wds:Q37541151-D809920F-AD13-44D6-9D1A-3405D9E94A85

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