Detalhe da pesquisa
1.
Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).
Genet Med
; 23(9): 1656-1663, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-33958749
2.
Diagnosing hereditary cancer predisposition in men with prostate cancer.
Genet Med
; 22(9): 1517-1523, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32439974
3.
False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.
Genet Med
; 20(12): 1515-1521, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-29565420
4.
Male breast cancer in a multi-gene panel testing cohort: insights and unexpected results.
Breast Cancer Res Treat
; 161(3): 575-586, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-28008555
5.
Artificial intelligence / machine-learning tool for post-market surveillance of in vitro diagnostic assays.
N Biotechnol
; 79: 82-90, 2024 Mar 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-38040287
6.
Assessment of Diagnostic Outcomes of RNA Genetic Testing for Hereditary Cancer.
JAMA Netw Open
; 2(10): e1913900, 2019 10 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-31642931
7.
Quality of Clinician-Reported Cancer History When Ordering Genetic Testing.
JCO Clin Cancer Inform
; 2: 1-11, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30652589