Detalhe da pesquisa
1.
Implementation of preemptive DNA sequence-based pharmacogenomics testing across a large academic medical center: The Mayo-Baylor RIGHT 10K Study.
Genet Med
; 24(5): 1062-1072, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35331649
2.
The Genetic Counselor's Role in Managing Ethical Dilemmas Arising in the Laboratory Setting.
J Genet Couns
; 25(5): 838-54, 2016 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-27103422
3.
Increased frequency of FBN1 truncating and splicing variants in Marfan syndrome patients with aortic events.
Genet Med
; 17(3): 177-87, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25101912
4.
Decreased frequency of FBN1 missense variants in Ghent criteria-positive Marfan syndrome and characterization of novel FBN1 variants.
J Hum Genet
; 60(5): 241-52, 2015 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-25652356
5.
Genetic and biochemical analyses in dyslipidemic patients undergoing LDL apheresis.
J Clin Apher
; 29(5): 256-65, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-24420163
6.
Looking back and moving forward: an historical perspective from laboratory genetic counselors.
J Genet Couns
; 23(3): 363-70, 2014 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24217982
7.
UGT1A1 genetic analysis as a diagnostic aid for individuals with unconjugated hyperbilirubinemia.
J Pediatr
; 162(6): 1146-52, 1152.e1-2, 2013 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-23290513
8.
Targeted Genotyping in Clinical Pharmacogenomics: What Is Missing?
J Mol Diagn
; 24(3): 253-261, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35041929
9.
Variability in gene-based knowledge impacts variant classification: an analysis of FBN1 missense variants in ClinVar.
Eur J Hum Genet
; 27(10): 1550-1560, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31227806
10.
Clinical UGT1A1 Genetic Analysis in Pediatric Patients: Experience of a Reference Laboratory.
Mol Diagn Ther
; 21(3): 327-335, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28213806
11.
Technical Advances for the Clinical Genomic Evaluation of Sudden Cardiac Death: Verification of Next-Generation Sequencing Panels for Hereditary Cardiovascular Conditions Using Formalin-Fixed Paraffin-Embedded Tissues and Dried Blood Spots.
Circ Cardiovasc Genet
; 10(6)2017 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-29237689
12.
Genetic testing utilization and the role of the laboratory genetic counselor.
Clin Chim Acta
; 427: 193-5, 2014 Jan 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-24084506
13.
What Is the True Prevalence of Hypertrophic Cardiomyopathy?
J Am Coll Cardiol
; 66(16): 1845-1846, 2015 Oct 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-26483113