Search details
1.
An efficient genotyper and star-allele caller for pharmacogenomics.
Genome Res
; 33(1): 61-70, 2023 01.
Article
in English
| MEDLINE | ID: mdl-36657977
2.
Two epilepsy-associated variants in KCNA2 (KV 1.2) at position H310 oppositely affect channel functional expression.
J Physiol
; 601(23): 5367-5389, 2023 Dec.
Article
in English
| MEDLINE | ID: mdl-37883018
3.
Human Mutation special issue on innovations in genomic diagnostics.
Hum Mutat
; 43(11): 1493-1494, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36116036
4.
Long-read HiFi sequencing of NUDT15: Phased full-gene haplotyping and pharmacogenomic allele discovery.
Hum Mutat
; 43(11): 1557-1566, 2022 11.
Article
in English
| MEDLINE | ID: mdl-36057977
5.
Attitudes on pharmacogenomic results as secondary findings among medical geneticists.
Pharmacogenet Genomics
; 32(8): 273-280, 2022 10 01.
Article
in English
| MEDLINE | ID: mdl-35916546
6.
Clinical pharmacogenomic testing and reporting: A technical standard of the American College of Medical Genetics and Genomics (ACMG).
Genet Med
; 24(4): 759-768, 2022 04.
Article
in English
| MEDLINE | ID: mdl-35177334
7.
Pharmacogenomic education among genetic counseling training programs in North America.
J Genet Couns
; 30(5): 1500-1508, 2021 10.
Article
in English
| MEDLINE | ID: mdl-33882174
8.
Knowledge and attitudes on pharmacogenetics among pediatricians.
J Hum Genet
; 65(5): 437-444, 2020 May.
Article
in English
| MEDLINE | ID: mdl-31983733
9.
Haploinsufficiency of the basic helix-loop-helix transcription factor HAND2 causes congenital heart defects.
Am J Med Genet A
; 182(5): 1263-1267, 2020 05.
Article
in English
| MEDLINE | ID: mdl-32134193
10.
Structural variation at the CYP2C locus: Characterization of deletion and duplication alleles.
Hum Mutat
; 40(11): e37-e51, 2019 11.
Article
in English
| MEDLINE | ID: mdl-31260137
11.
Multi-site investigation of strategies for the clinical implementation of CYP2D6 genotyping to guide drug prescribing.
Genet Med
; 21(10): 2255-2263, 2019 10.
Article
in English
| MEDLINE | ID: mdl-30894703
12.
Standardizing terms for clinical pharmacogenetic test results: consensus terms from the Clinical Pharmacogenetics Implementation Consortium (CPIC).
Genet Med
; 19(2): 215-223, 2017 02.
Article
in English
| MEDLINE | ID: mdl-27441996
13.
Long-Read Single Molecule Real-Time Full Gene Sequencing of Cytochrome P450-2D6.
Hum Mutat
; 37(3): 315-23, 2016 Mar.
Article
in English
| MEDLINE | ID: mdl-26602992
14.
In situ studies of materials for high temperature CO2 capture and storage.
Faraday Discuss
; 192: 217-240, 2016 10 20.
Article
in English
| MEDLINE | ID: mdl-27472014
15.
Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records.
JAMA
; 315(1): 47-57, 2016 Jan 05.
Article
in English
| MEDLINE | ID: mdl-26746457
16.
Quantitative and multiplexed DNA methylation analysis using long-read single-molecule real-time bisulfite sequencing (SMRT-BS).
BMC Genomics
; 16: 350, 2015 May 06.
Article
in English
| MEDLINE | ID: mdl-25943404
17.
Phycobilisome-Deficient Strains of Synechocystis sp. PCC 6803 Have Reduced Size and Require Carbon-Limiting Conditions to Exhibit Enhanced Productivity.
Plant Physiol
; 165(2): 705-714, 2014 Jun.
Article
in English
| MEDLINE | ID: mdl-24760817
18.
Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study.
Lancet
; 382(9894): 790-6, 2013 Aug 31.
Article
in English
| MEDLINE | ID: mdl-23755828
19.
An Ashkenazi Jewish SMN1 haplotype specific to duplication alleles improves pan-ethnic carrier screening for spinal muscular atrophy.
Genet Med
; 16(2): 149-56, 2014 Feb.
Article
in English
| MEDLINE | ID: mdl-23788250
20.
Frequency of the cholesteryl ester storage disease common LIPA E8SJM mutation (c.894G>A) in various racial and ethnic groups.
Hepatology
; 58(3): 958-65, 2013 Sep.
Article
in English
| MEDLINE | ID: mdl-23424026