Detalhe da pesquisa
1.
Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 23(11): 2029-2037, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34211152
2.
Protein-elongating mutations in MYH11 are implicated in a dominantly inherited smooth muscle dysmotility syndrome with severe esophageal, gastric, and intestinal disease.
Hum Mutat
; 41(5): 973-982, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31944481
3.
The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system.
Genet Med
; 22(2): 371-380, 2020 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31481752
4.
Correction: The Genomics Research and Innovation Network: creating an interoperable, federated, genomics learning system.
Genet Med
; 22(2): 449, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31772351
5.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Am J Hum Genet
; 98(6): 1067-1076, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27181684
6.
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
Am J Hum Genet
; 98(6): 1051-1066, 2016 06 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27181682
7.
Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
Genet Med
; 21(5): 1100-1110, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30287922
8.
Correction: Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
Genet Med
; 21(5): 1261-1262, 2019 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-30670880
9.
Anticipated responses of early adopter genetic specialists and nongenetic specialists to unsolicited genomic secondary findings.
Genet Med
; 20(10): 1186-1195, 2018 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29388940
10.
AUDIOME: a tiered exome sequencing-based comprehensive gene panel for the diagnosis of heterogeneous nonsyndromic sensorineural hearing loss.
Genet Med
; 20(12): 1600-1608, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29595809
11.
Utility and limitations of exome sequencing as a genetic diagnostic tool for children with hearing loss.
Genet Med
; 20(12): 1663-1676, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29907799
12.
Utility and limitations of exome sequencing in the molecular diagnosis of pediatric inherited platelet disorders.
Am J Hematol
; 93(1): 8-16, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28960434
13.
Why Patients Decline Genomic Sequencing Studies: Experiences from the CSER Consortium.
J Genet Couns
; 27(5): 1220-1227, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-29497922
14.
Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.
Hum Genomics
; 9: 15, 2015 Jul 19.
Artigo
em Inglês
| MEDLINE | ID: mdl-26187847
15.
Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Am J Hum Genet
; 99(1): 247, 2016 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27392081
16.
Clinical Sequencing Exploratory Research Consortium: Accelerating Evidence-Based Practice of Genomic Medicine.
Am J Hum Genet
; 99(1): 246, 2016 07 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27392080
17.
Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease: A Randomized Clinical Trial.
JAMA Pediatr
; 175(12): 1218-1226, 2021 12 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34570182
18.
A Centralized Approach for Practicing Genomic Medicine.
Pediatrics
; 145(3)2020 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-32102930
19.
Clinical providers' experiences with returning results from genomic sequencing: an interview study.
BMC Med Genomics
; 11(1): 45, 2018 05 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-29739461
20.
Approaches to carrier testing and results disclosure in translational genomics research: The clinical sequencing exploratory research consortium experience.
Mol Genet Genomic Med
; 6(6): 898-909, 2018 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-30133189