Detalhe da pesquisa
1.
Genomic Sequencing for Newborn Screening: Results of the NC NEXUS Project.
Am J Hum Genet
; 107(4): 596-611, 2020 10 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-32853555
2.
Association of deep phenotyping with diagnostic yield of prenatal exome sequencing for fetal brain abnormalities.
Genet Med
; 25(10): 100915, 2023 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-37326029
3.
Verifying nomenclature of DNA variants in submitted manuscripts: Guidance for journals.
Hum Mutat
; 42(1): 3-7, 2021 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33252176
4.
Correction: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Genet Med
; 22(8): 1426, 2020 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-32555414
5.
An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.
Genet Med
; 22(5): 954-961, 2020 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31974414
6.
Frequency and clinical outcomes of CYP2C19 genotype-guided escalation and de-escalation of antiplatelet therapy in a real-world clinical setting.
Genet Med
; 22(1): 160-169, 2020 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-31316169
7.
CAP/ACMG proficiency testing for biochemical genetics laboratories: a summary of performance.
Genet Med
; 20(1): 83-90, 2018 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-28661487
8.
"Possibly positive or certainly uncertain?": participants' responses to uncertain diagnostic results from exome sequencing.
Genet Med
; 20(3): 313-319, 2018 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-29593351
9.
Comprehensive assessment of cytochromes P450 and transporter genetics with endoxifen concentration during tamoxifen treatment.
Pharmacogenet Genomics
; 27(11): 402-409, 2017 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-28877533
10.
A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
Genet Med
; 19(5): 575-582, 2017 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-27811861
11.
Tamoxifen Dose Escalation in Patients With Diminished CYP2D6 Activity Normalizes Endoxifen Concentrations Without Increasing Toxicity.
Oncologist
; 21(7): 795-803, 2016 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-27226358
12.
Highly accurate molecular genetic testing for HFE hereditary hemochromatosis: results from 10 years of blinded proficiency surveys by the College of American Pathologists.
Genet Med
; 18(12): 1206-1213, 2016 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-27124787
13.
A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.
Genet Med
; 18(5): 467-75, 2016 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-26270767
14.
Molecular genetic testing for cystic fibrosis: laboratory performance on the College of American Pathologists external proficiency surveys.
Genet Med
; 17(3): 219-25, 2015 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-25077647
15.
The phenotype of multiple congenital anomalies-hypotonia-seizures syndrome 1: report and review.
Am J Med Genet A
; 167A(9): 2176-81, 2015 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-25920937
16.
In vivo assessment of the metabolic activity of CYP2D6 diplotypes and alleles.
Br J Clin Pharmacol
; 80(5): 1122-30, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25907378
17.
Phenotypic heterogeneity in females with X-linked Alport syndrome.
Clin Nephrol
; 84(5): 296-300, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26249550
18.
Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study.
Lancet
; 382(9894): 790-6, 2013 Aug 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-23755828
19.
Cri du chat syndrome and primary ciliary dyskinesia: a common genetic cause on chromosome 5p.
J Pediatr
; 165(4): 858-61, 2014 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-25066065
20.
Podocyte-associated gene mutation screening in a heterogeneous cohort of patients with sporadic focal segmental glomerulosclerosis.
Nephrol Dial Transplant
; 29(11): 2062-9, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-24500309