Detalhe da pesquisa
1.
The landscape of reported VUS in multi-gene panel and genomic testing: Time for a change.
Genet Med
; 25(12): 100947, 2023 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-37534744
2.
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
3.
A Severe Case of Congenital Thrombotic Thrombocytopenia Purpura Resulting From Compound Heterozygosity Involving a Novel ADAMTS13 Pathogenic Variant.
J Pediatr Hematol Oncol
; 40(1): 60-62, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-28678087
4.
ß-Thalassemia major resulting from compound heterozygosity for HBB: c.92+2T>C [formerly known as IVS-I-2 (T>C)] and a novel ß(0)-thalassemia frameshift mutation: HBB: c.209delG; p.Gly70Valfs*20.
Hemoglobin
; 38(4): 292-4, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24986053
5.
Hb Grand Junction (HBB: c.348_349delinsG; p.His117IlefsX42): a new hyperunstable hemoglobin variant.
Hemoglobin
; 38(1): 8-12, 2014.
Artigo
em Inglês
| MEDLINE | ID: mdl-24432801
6.
Targeted Genotyping in Clinical Pharmacogenomics: What Is Missing?
J Mol Diagn
; 24(3): 253-261, 2022 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-35041929
7.
Monozygotic twins discordant for congenital adrenal hyperplasia due to mosaicism.
Eur J Endocrinol
; 182(2): K7-K13, 2020 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-31804968
8.
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
9.
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
10.
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
11.
Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.
Eur J Hum Genet
; 25(4): 410-415, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28145427
12.
Unusual phenotype of congenital adrenal hyperplasia (CAH) with a novel mutation of the CYP21A2 gene.
J Pediatr Endocrinol Metab
; 29(7): 867-71, 2016 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27180336
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