Detalhe da pesquisa
1.
Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
BMC Med
; 19(1): 199, 2021 08 18.
Artigo
em Inglês
| MEDLINE | ID: mdl-34404389
2.
Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Genet Med
; 20(3): 351-359, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29300372
3.
Cleft palate and hypopituitarism in a patient with Noonan-like syndrome with loose anagen hair-1.
Am J Med Genet A
; 176(9): 2024-2027, 2018 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-30240112
4.
Correction to: Physician-directed genetic screening to evaluate personal risk for medically actionable disorders: a large multi-center cohort study.
BMC Med
; 19(1): 288, 2021 Nov 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-34732190
5.
Clinical application of whole-exome sequencing across clinical indications.
Genet Med
; 18(7): 696-704, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-26633542
6.
FTO variant associated with malformation syndrome.
Am J Med Genet A
; 170A(4): 1023-8, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26697951
7.
Whole exome sequencing reveals de novo pathogenic variants in KAT6A as a cause of a neurodevelopmental disorder.
Am J Med Genet A
; 170(7): 1791-8, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27133397
8.
Clinical and Counseling Experiences of Early Adopters of Whole Exome Sequencing.
J Genet Couns
; 25(2): 337-43, 2016 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-26283062
9.
Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.
Genet Med
; 17(8): 623-9, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25356966
10.
Loss of function mutation in glutamic pyruvate transaminase 2 (GPT2) causes developmental encephalopathy.
J Inherit Metab Dis
; 38(5): 941-8, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25758935
11.
Secondary findings on virtual panels: opportunities, challenges, and potential for preventive medicine.
Genet Med
; 21(5): 1250-1251, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30245515
12.
Response to "The use of ACMG secondary findings recommendations for general population screening: a policy statement of the American College of Medical Genetics and Genomics (ACMG)".
Genet Med
; 21(12): 2836-2837, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31239557
13.
Retrospective Cohort Study on the Limitations of Direct-to-Consumer Genetic Screening in Hereditary Breast and Ovarian Cancer.
JCO Precis Oncol
; 7: e2200695, 2023 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-37535880
14.
The Impact of Proband Indication for Genetic Testing on the Uptake of Cascade Testing Among Relatives.
Front Genet
; 13: 867226, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35783293
15.
Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.
JAMA Cardiol
; 6(8): 902-909, 2021 08 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-34037665
16.
A pharmacogenetic study of vorinostat glucuronidation.
Pharmacogenet Genomics
; 20(10): 638-41, 2010 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-20729791
17.
SMC1A expression and mechanism of pathogenicity in probands with X-Linked Cornelia de Lange syndrome.
Hum Mutat
; 30(11): 1535-42, 2009 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-19701948
18.
Reader Response: D313Y Variant in Fabry Disease: A Systematic Review and Meta-analysis.
Neurology
; 101(10): 456-457, 2023 09 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-37666671
19.
Clinical Genetic Testing for the Cardiomyopathies and Arrhythmias: A Systematic Framework for Establishing Clinical Validity and Addressing Genotypic and Phenotypic Heterogeneity.
Front Cardiovasc Med
; 3: 20, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-27446933
20.
Whole-Exome Sequencing Reveals CLCNKB Mutations in a Case of Sudden Unexpected Infant Death.
Pediatr Dev Pathol
; 18(4): 324-6, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25923035