Detalhe da pesquisa
1.
Use of next-generation sequencing to detect mutations associated with antiviral drug resistance in cytomegalovirus.
J Clin Microbiol
; 61(10): e0042923, 2023 10 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-37750719
2.
One in seven pathogenic variants can be challenging to detect by NGS: an analysis of 450,000 patients with implications for clinical sensitivity and genetic test implementation.
Genet Med
; 23(9): 1673-1680, 2021 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-34007000
3.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 23(3): 498-507, 2021 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33144682
4.
CSNK2B: A broad spectrum of neurodevelopmental disability and epilepsy severity.
Epilepsia
; 62(7): e103-e109, 2021 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-34041744
5.
Determining the clinical validity of hereditary colorectal cancer and polyposis susceptibility genes using the Clinical Genome Resource Clinical Validity Framework.
Genet Med
; 21(7): 1507-1516, 2019 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-30523343
6.
CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Genet Med
; 21(12): 2723-2733, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31239556
7.
Impact of integrated translational research on clinical exome sequencing.
Genet Med
; 25(2): 100359, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745126
8.
Developmental delay and failure to thrive associated with a loss-of-function variant in WHSC1 (NSD2).
Am J Med Genet A
; 176(12): 2798-2802, 2018 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-30345613
9.
High-grade endometrial stromal sarcoma as the initial presentation of an adult patient with Peutz-Jeghers Syndrome: a case report.
Hered Cancer Clin Pract
; 13(1): 6, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25649062
10.
Implementing individualized medicine into the medical practice.
Am J Med Genet C Semin Med Genet
; 166C(1): 15-23, 2014 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-24616301
11.
Novel de novo heterozygous FGFR1 mutation in two siblings with Hartsfield syndrome: a case of gonadal mosaicism.
Am J Med Genet A
; 164A(9): 2356-9, 2014 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-24888332
12.
Miniaturized Nanopore DNA Sequencing: Accelerating the Path to Precision Medicine.
Clin Chem
; 63(3): 632-634, 2017 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-28077442
13.
Evaluation of oligonucleotide sequence capture arrays and comparison of next-generation sequencing platforms for use in molecular diagnostics.
Clin Chem
; 56(8): 1297-306, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20562348
14.
Preserving personal autonomy in a genomic testing era.
Genet Med
; 15(5): 408-9, 2013 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-23649380
15.
Direct-to-Consumer Testing 2.0: Emerging Models of Direct-to-Consumer Genetic Testing.
Mayo Clin Proc
; 93(1): 113-120, 2018 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29304915
16.
Novel NR2F1 variants likely disrupt DNA binding: molecular modeling in two cases, review of published cases, genotype-phenotype correlation, and phenotypic expansion of the Bosch-Boonstra-Schaaf optic atrophy syndrome.
Cold Spring Harb Mol Case Stud
; 3(6)2017 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-28963436
17.
Novel de novo variant in EBF3 is likely to impact DNA binding in a patient with a neurodevelopmental disorder and expanded phenotypes: patient report, in silico functional assessment, and review of published cases.
Cold Spring Harb Mol Case Stud
; 3(3): a001743, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-28487885
18.
Targeted sequencing of 36 known or putative colorectal cancer susceptibility genes.
Mol Genet Genomic Med
; 5(5): 553-569, 2017 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-28944238
19.
A splice-site mutation in CCM1/KRIT1 is associated with retinal and cerebral cavernous hemangioma.
Ophthalmic Genet
; 27(4): 157-9, 2006 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-17148043
20.
Outcome of Whole Exome Sequencing for Diagnostic Odyssey Cases of an Individualized Medicine Clinic: The Mayo Clinic Experience.
Mayo Clin Proc
; 91(3): 297-307, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26944241