Detalhe da pesquisa
1.
Diagnostic testing laboratories are valuable partners for disease gene discovery: 5-year experience with GeneMatcher.
Hum Mutat
; 43(6): 772-781, 2022 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-35143109
2.
Facing the challenge of genetic counselors' need for rapid continuing education about genomic technologies.
J Genet Couns
; 29(5): 838-848, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31916674
3.
Detection of structural variation using target captured next-generation sequencing data for genetic diagnostic testing.
Genet Med
; 21(7): 1603-1610, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30563988
4.
Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis.
Genet Med
; 20(11): 1468-1471, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-29565416
5.
Correction: Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Genet Med
; 20(9): 1099-1102, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29388939
6.
Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.
Hum Mutat
; 38(5): 600-608, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28106320
7.
Candidate-gene criteria for clinical reporting: diagnostic exome sequencing identifies altered candidate genes among 8% of patients with undiagnosed diseases.
Genet Med
; 19(2): 224-235, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27513193
8.
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
Genet Med
; 19(5): 575-582, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27811861
9.
Diagnostic exome sequencing provides a molecular diagnosis for a significant proportion of patients with epilepsy.
Genet Med
; 18(9): 898-905, 2016 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-26795593
10.
Recommendations for Next-Generation Sequencing Germline Variant Confirmation: A Joint Report of the Association for Molecular Pathology and National Society of Genetic Counselors.
J Mol Diagn
; 25(7): 411-427, 2023 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-37207865
11.
When moments matter: Finding answers with rapid exome sequencing.
Mol Genet Genomic Med
; 8(2): e1027, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31872981
12.
Clinical whole-exome sequencing results impact medical management.
Mol Genet Genomic Med
; 6(6): 1068-1078, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30318729
13.
Outcomes of Diagnostic Exome Sequencing in Patients With Diagnosed or Suspected Autism Spectrum Disorders.
Pediatr Neurol
; 70: 34-43.e2, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28330790