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1.
The Science and Art of Clinical Genetic Variant Classification and Its Impact on Test Accuracy.
Annu Rev Genomics Hum Genet
; 22: 285-307, 2021 08 31.
Artículo
en Inglés
| MEDLINE | ID: mdl-33900788
2.
Clinical pharmacogenomic testing and reporting: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 24(4): 759-768, 2022 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-35177334
3.
Laboratory testing for fragile X, 2021 revision: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(5): 799-812, 2021 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-33795824
4.
Reducing Sanger confirmation testing through false positive prediction algorithms.
Genet Med
; 23(7): 1255-1262, 2021 07.
Artículo
en Inglés
| MEDLINE | ID: mdl-33767343
5.
Recommended measures for the efficient care of patients with genetic disorders during the COVID-19 pandemic in low and middle income countries.
Am J Med Genet A
; 182(12): 2841-2846, 2020 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-33067931
6.
Assessing the strength of evidence for genes implicated in fatty acid oxidation disorders using the ClinGen clinical validity framework.
Mol Genet Metab
; 128(1-2): 122-128, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31399326
7.
Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
Hum Mutat
; 39(11): 1569-1580, 2018 11.
Artículo
en Inglés
| MEDLINE | ID: mdl-30311390
8.
A Clinicopathologic Evaluation of Incidental Fundic Gland Polyps With Dysplasia: Implications for Clinical Management.
Am J Gastroenterol
; 112(7): 1094-1102, 2017 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-28462913
9.
DNA-based screening and population health: a points to consider statement for programs and sponsoring organizations from the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(6): 989-995, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33727704
10.
Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys.
Genet Med
; 17(3): 219-25, 2015 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-25077647
11.
Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Genet Med
; 17(5): 405-24, 2015 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-25741868
12.
Characterizing genetic variants for clinical action.
Am J Med Genet C Semin Med Genet
; 166C(1): 93-104, 2014 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-24634402
13.
Results of the College of American Pathology/American College of Medical Genetics and Genomics external proficiency testing from 2006 to 2013 for three conditions prevalent in the Ashkenazi Jewish population.
Genet Med
; 16(9): 695-702, 2014 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-24577267
14.
Three-year experience of a CAP/ACMG methods-based external proficiency testing program for laboratories offering DNA sequencing for rare inherited disorders.
Genet Med
; 16(1): 25-32, 2014 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23703682
15.
ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics.
Genet Med
; 15(7): 575-86, 2013 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-23765048
16.
Response to Biesecker and Harrison.
Genet Med
; 20(12): 1689-1690, 2018 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-29543230
17.
ACMG clinical laboratory standards for next-generation sequencing.
Genet Med
; 15(9): 733-47, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-23887774
18.
Aneuploidy detection in paraffin embedded tissue from products of conception by mini-STR genotyping.
Fetal Pediatr Pathol
; 32(2): 133-50, 2013 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-22607361
19.
Laboratory testing of CYP2D6 alleles in relation to tamoxifen therapy.
Genet Med
; 14(12): 990-1000, 2012 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-22955113
20.
Sickle cell disease resulting from uniparental disomy in a child who inherited sickle cell trait.
Blood
; 116(15): 2822-5, 2010 Oct 14.
Artículo
en Inglés
| MEDLINE | ID: mdl-20595515