Detalhe da pesquisa
1.
Genetic Misdiagnoses and the Potential for Health Disparities.
N Engl J Med
; 375(7): 655-65, 2016 Aug 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-27532831
2.
Development of Clinical Domain Working Groups for the Clinical Genome Resource (ClinGen): lessons learned and plans for the future.
Genet Med
; 21(4): 987-993, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30181607
3.
NGS testing for cardiomyopathy: Utility of adding RASopathy-associated genes.
Hum Mutat
; 39(7): 954-958, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29696744
4.
Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.
Genet Med
; 19(2): 192-203, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27532257
5.
Improving hearing loss gene testing: a systematic review of gene evidence toward more efficient next-generation sequencing-based diagnostic testing and interpretation.
Genet Med
; 18(6): 545-53, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26562227
6.
Burden of rare sarcomere gene variants in the Framingham and Jackson Heart Study cohorts.
Am J Hum Genet
; 91(3): 513-9, 2012 Sep 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-22958901
7.
Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
Genet Med
; 17(11): 880-8, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25611685
8.
CORRIGENDUM: Results of clinical genetic testing of 2,912 probands with hypertrophic cardiomyopathy: expanded panels offer limited additional sensitivity.
Genet Med
; 17(4): 319, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25835197
9.
Development and validation of a computational method for assessment of missense variants in hypertrophic cardiomyopathy.
Am J Hum Genet
; 88(2): 183-92, 2011 Feb 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-21310275
10.
The landscape of genetic variation in dilated cardiomyopathy as surveyed by clinical DNA sequencing.
Genet Med
; 16(8): 601-8, 2014 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-24503780
11.
Slice Testing-Considerations from Ordering to Reporting: A Joint Report of the Association for Molecular Pathology, College of American Pathologists, and National Society of Genetic Counselors.
J Mol Diagn
; 26(3): 159-167, 2024 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-38103592
12.
ACMG clinical laboratory standards for next-generation sequencing.
Genet Med
; 15(9): 733-47, 2013 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-23887774
13.
Familial ebstein anomaly, left ventricular hypertrabeculation, and ventricular septal defect associated with a MYH7 mutation.
Am J Med Genet A
; 161A(12): 3187-90, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-23956225
14.
Genetic testing for dilated cardiomyopathy in clinical practice.
J Card Fail
; 18(4): 296-303, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22464770
15.
The GeneInsight Suite: a platform to support laboratory and provider use of DNA-based genetic testing.
Hum Mutat
; 32(5): 532-6, 2011 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-21432942
16.
Classifying Germline Sequence Variants in the Era of Next-Generation Sequencing.
Clin Chem
; 62(6): 799-806, 2016 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26861553
17.
Harmonizing the Collection of Clinical Data on Genetic Testing Requisition Forms to Enhance Variant Interpretation in Hypertrophic Cardiomyopathy (HCM): A Study from the ClinGen Cardiomyopathy Variant Curation Expert Panel.
J Mol Diagn
; 23(5): 589-598, 2021 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-33631351
18.
A novel custom resequencing array for dilated cardiomyopathy.
Genet Med
; 12(5): 268-78, 2010 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-20474083
19.
A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions.
Genet Test
; 11(1): 91-100, 2007.
Artigo
em Inglês
| MEDLINE | ID: mdl-17394398
20.
The Case for Laboratory Developed Procedures: Quality and Positive Impact on Patient Care.
Acad Pathol
; 4: 2374289517708309, 2017.
Artigo
em Inglês
| MEDLINE | ID: mdl-28815200