Works matching DE "AMERICAN College of Medical Genetics"
Results: 54
Genotype--phenotype correlations in THAP1 dystonia in six Indian patients.
- Published in:
- 2022
- By:
- Publication type:
- Abstract
NEEDLES, HAYSTACKS AND NEXT- GENERATION GENETIC SEQUENCING.
- Published in:
- 2018
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- Publication type:
- Abstract
Challenges in the Use of Direct-to-Consumer Personal Genome Testing in Children.
- Published in:
- American Journal of Bioethics, 2009, v. 9, n. 6/7, p. 32, doi. 10.1080/15265160902893916
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- Publication type:
- Article
Peter Jacky, PhD, FACMG.
- Published in:
- 2013
- By:
- Publication type:
- Interview
Assuring the Quality of Microarray Analysis.
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- Journal of the Association of Genetic Technologists, 2011, v. 37, n. 4, p. 222
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- Publication type:
- Article
Towards a European consensus for reporting incidental findings during clinical NGS testing.
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- European Journal of Human Genetics, 2015, v. 23, n. 12, p. 1601, doi. 10.1038/ejhg.2015.111
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- Publication type:
- Article
High throughput exome coverage of clinically relevant cardiac genes.
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- BMC Medical Genomics, 2014, v. 7, n. 1, p. 69, doi. 10.1186/s12920-014-0067-8
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- Publication type:
- Article
Analytical validation of whole exome and whole genome sequencing for clinical applications.
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- BMC Medical Genomics, 2014, v. 7, n. 1, p. 1, doi. 10.1186/1755-8794-7-20
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- Publication type:
- Article
Touching base.
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- Nature Genetics, 2007, v. 39, n. 8, p. 941, doi. 10.1038/ng0807-941
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- Publication type:
- Article
Touching base.
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- Nature Genetics, 2006, v. 38, n. 6, p. 613, doi. 10.1038/ng0606-613
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- Publication type:
- Article
Novel mutations in HSF4 cause congenital cataracts in Chinese families.
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- BMC Medical Genetics, 2018, v. 19, n. 1, p. N.PAG, doi. 10.1186/s12881-018-0636-3
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- Publication type:
- Article
Ethics and clinical utility of direct-to-consumer genetic tests.
- Published in:
- 2015
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- Publication type:
- Editorial
What to tell patients about DTC genetic testing.
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- Contemporary OB/GYN, 2009, v. 54, n. 10, p. 80
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- Publication type:
- Article
Will screening open Pandora's box?
- Published in:
- 2013
- By:
- Publication type:
- Editorial
New Online Program Offers Genetics Education.
- Published in:
- JAMA: Journal of the American Medical Association, 2011, v. 306, n. 11, p. 1190, doi. 10.1001/jama.2011.1278
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- Publication type:
- Article
Position statement on opportunistic genomic screening from the Association of Genetic Nurses and Counsellors (UK and Ireland).
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 8, p. 955, doi. 10.1038/ejhg.2013.301
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- Publication type:
- Article
Clinical genome sequencing and population preferences for information about ‘incidental’ findings—From medically actionable genes (MAGs) to patient actionable genes (PAGs).
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- PLoS ONE, 2017, v. 12, n. 7, p. 1, doi. 10.1371/journal.pone.0179935
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- Publication type:
- Article
Contributions of rare and common variation to early-onset and atypical dementia risk.
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- Cold Spring Harbor Molecular Case Studies, 2023, v. 9, n. 3, p. 1, doi. 10.1101/mcs.a006271
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- Publication type:
- Article
Rapid Detection of the ACMG/ACOG-Recommended 23 CFTR Disease-Causing Mutations Using Ion Torrent Semiconductor Sequencing.
- Published in:
- Journal of Biomolecular Techniques, 2012, v. 23, n. 1, p. 24, doi. 10.7171/jbt.12-2301-003
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- Publication type:
- Article
The Continuing Evolution of Ethical Standards for Genomic Sequencing in Clinical Care: Restoring Patient Choice.
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- Journal of Law, Medicine & Ethics, 2017, v. 45, n. 3, p. 333, doi. 10.1177/1073110517737531
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- Publication type:
- Article
On the Justifiability of ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing.
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- Journal of Law, Medicine & Ethics, 2015, v. 43, n. 1, p. 134, doi. 10.1111/jlme.12201
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- Publication type:
- Article
Thou Good and Faithful Servant.
- Published in:
- 2009
- By:
- Publication type:
- Editorial
Screening and Caring for Children with Rare Disorders.
- Published in:
- Hastings Center Report, 2008, v. 38, n. 3, p. 3, doi. 10.1353/hcr.0.0006
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- Publication type:
- Article
Practice guidelines and proficiency testing for molecular assays.
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- Transfusion, 2007, v. 47, p. 79S, doi. 10.1111/j.1537-2995.2007.01316.x
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- Publication type:
- Article
What do the new American College of Medical Genetics and Genomics (ACMG) guidelines mean for the provision of non-invasive prenatal genetic screening?
- Published in:
- Journal of Obstetrics & Gynaecology, 2017, v. 37, n. 6, p. 795, doi. 10.1080/01443615.2017.1291597
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- Publication type:
- Article
Reinterpretation of common pathogenic variants in ClinVar revealed a high proportion of downgrades.
- Published in:
- Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-019-57335-5
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- Publication type:
- Article
Prevalence of pathogenic/likely pathogenic variants in the 24 cancer genes of the ACMG Secondary Findings v2.0 list in a large cancer cohort and ethnicity-matched controls.
- Published in:
- Genome Medicine, 2018, v. 10, n. 1, p. N.PAG, doi. 10.1186/s13073-018-0607-5
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- Publication type:
- Article
Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
- Published in:
- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0135193
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- Publication type:
- Article
A Novel WRN Frameshift Mutation Identified by Multiplex Genetic Testing in a Family with Multiple Cases of Cancer.
- Published in:
- PLoS ONE, 2015, v. 10, n. 8, p. 1, doi. 10.1371/journal.pone.0133020
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- Publication type:
- Article
Newborn screening tests in the 21st century: What PAs need to know.
- Published in:
- JAAPA: Journal of the American Academy of Physician Assistants (Haymarket Media, Inc.), 2010, v. 23, n. 4, p. 30, doi. 10.1097/01720610-201004000-00005
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- Publication type:
- Article
International Events 2012.
- Published in:
- 2012
- Publication type:
- Calendar
International Events 2007.
- Published in:
- 2006
- Publication type:
- Calendar
Diagnosis of Fetal Anomaly and the Increased Maternal Psychological Toll Associated with Pregnancy Termination.
- Published in:
- Issues in Law & Medicine, 2015, v. 30, n. 1, p. 3
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- Publication type:
- Article
American College of Medical Genetics Standards and Guidelines for Interpretation and Reporting of Postnatal Constitutional Copy Number Variants.
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- Journal of International Reproductive Health/Family Planning, 2014, v. 33, n. 3, p. 217
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- Publication type:
- Article
Adoptees' Pursuit of Genomic Testing to Fill Gaps in Family Health History and Reduce Healthcare Disparity.
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- Narrative Inquiry in Bioethics, 2018, v. 8, n. 2, p. 131, doi. 10.1353/nib.2018.0050
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- Publication type:
- Article
Incidental Findings and Informed Consent.
- Published in:
- 2013
- Publication type:
- Interview
Requiring genetic knowledge: a principled case for support.
- Published in:
- Legal Studies, 2015, v. 35, n. 3, p. 532, doi. 10.1111/lest.12080
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- Publication type:
- Article
Pediatricians’ Attitudes About Screening Newborns for Infectious Diseases.
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- Maternal & Child Health Journal, 2010, v. 14, n. 2, p. 174, doi. 10.1007/s10995-008-0431-4
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- Publication type:
- Article
Fragile X syndrome: Is now the time for population screening?
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- Medical Laboratory Observer (MLO), 2010, v. 42, n. 5, p. 20
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- Publication type:
- Article
Actionable secondary findings from whole-genome sequencing of 954 East Asians.
- Published in:
- Human Genetics, 2018, v. 137, n. 1, p. 31, doi. 10.1007/s00439-017-1852-1
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- Publication type:
- Article
Genetic testing including targeted gene panel in a diverse clinical population of children with autism spectrum disorder: Findings and implications.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 2, p. 171, doi. 10.1002/mgg3.354
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- Publication type:
- Article
Return of Secondary Genomic Findings vs Patient Autonomy Implications for Medical Care.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
Mandatory Extended Searches in All Genome Sequencing "Incidental Findings," Patient Autonomy, and Shared Decision Making.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
Reporting Genomic Sequencing Results to Ordering Clinicians Incidental, but Not Exceptional.
- Published in:
- 2013
- By:
- Publication type:
- Opinion
Heterozygous KCNH2 variant phenotyping using Flp-In HEK293 and high-throughput automated patch clamp electrophysiology.
- Published in:
- Biology Methods & Protocols, 2021, v. 6, n. 1, p. 1, doi. 10.1093/biomethods/bpab003
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- Publication type:
- Article
Nationwide French Study of RET Variants Detected from 2003 to 2013 Suggests a Possible Influence of Polymorphisms as Modifiers.
- Published in:
- Thyroid, 2017, v. 27, n. 12, p. 1511, doi. 10.1089/thy.2016.0399
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- Publication type:
- Article
Clinical implications and considerations for evaluation of in silico algorithms for use with ACMG/AMP clinical variant interpretation guidelines.
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- Genome Medicine, 2017, v. 9, p. 1, doi. 10.1186/s13073-017-0508-z
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- Publication type:
- Article
Functional Studies and In Silico Analyses to Evaluate Non-Coding Variants in Inherited Cardiomyopathies.
- Published in:
- International Journal of Molecular Sciences, 2016, v. 17, n. 11, p. 1883, doi. 10.3390/ijms17111883
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- Publication type:
- Article
Replicate exome-sequencing in a multiplegeneration family: improved interpretation of next-generation sequencing data.
- Published in:
- BMC Genomics, 2015, v. 16, p. 1, doi. 10.1186/s12864-015-2107-y
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- Publication type:
- Article
Incidental findings and future testing methodologies: potential application of the ACMG 2013 recommendations.
- Published in:
- Journal of Law & the Biosciences, 2014, v. 1, n. 3, p. 378, doi. 10.1093/jlb/lsu028
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- Publication type:
- Article