Prati
Bradford Powell
Bradford Powell
Assistant Professor of Genetics, University of North Carolina at Chapel Hill
Potvrđena adresa e-pošte na drpowell.org
Naslov
Citirano
Citirano
Godina
A millennial myosin census
JS Berg, BC Powell, RE Cheney
Molecular biology of the cell 12 (4), 780-794, 2001
10492001
Newborn sequencing in genomic medicine and public health
JS Berg, PB Agrawal, DB Bailey, AH Beggs, SE Brenner, AM Brower, ...
Pediatrics 139 (2), 2017
2302017
Clinical sequencing exploratory research consortium: accelerating evidence-based practice of genomic medicine
RC Green, KAB Goddard, GP Jarvik, LM Amendola, PS Appelbaum, ...
The American Journal of Human Genetics 98 (6), 1051-1066, 2016
1702016
Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges
NL Vora, B Powell, A Brandt, N Strande, E Hardisty, K Gilmore, ...
Genetics in Medicine 19 (11), 1207-1216, 2017
1602017
The Clinical Sequencing Evidence-Generating Research Consortium: Integrating Genomic Sequencing in Diverse and Medically Underserved Populations
LM Amendola, JS Berg, CR Horowitz, F Angelo, JT Bensen, BB Biesecker, ...
The American Journal of Human Genetics 103 (3), 319-327, 2018
1382018
A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing
JS Berg, AKM Foreman, JM O'daniel, JK Booker, L Boshe, T Carey, ...
Genetics in Medicine 18 (5), 467-475, 2016
862016
Genomic sequencing for newborn screening: results of the NC NEXUS project
TS Roman, SB Crowley, MI Roche, AKM Foreman, JM O’Daniel, ...
The American Journal of Human Genetics 107 (4), 596-611, 2020
822020
ClinGen Pathogenicity Calculator: a configurable system for assessing pathogenicity of genetic variants
RY Patel, N Shah, AR Jackson, R Ghosh, P Pawliczek, S Paithankar, ...
Genome Medicine 9, 1-9, 2017
682017
Tracking the evolution of alternatively spliced exons within the Dscam family
ME Crayton, BC Powell, TJ Vision, MC Giddings
BMC evolutionary biology 6 (1), 1-15, 2006
602006
An approach to integrating exome sequencing for fetal structural anomalies into clinical practice
NL Vora, K Gilmore, A Brandt, C Gustafson, N Strande, L Ramkissoon, ...
Genetics in Medicine 22 (5), 954-961, 2020
592020
An age-based framework for evaluating genome-scale sequencing results in newborn screening
LV Milko, JM O'Daniel, DM DeCristo, SB Crowley, AKM Foreman, ...
The Journal of pediatrics 209, 68-76, 2019
592019
Identification of TP53 as an acute lymphocytic leukemia susceptibility gene through exome sequencing
BC Powell, L Jiang, DM Muzny, LR Treviño, ZAE Dreyer, LC Strong, ...
Pediatric blood & cancer 60 (6), E1-E3, 2013
592013
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies
LM Amendola, K Muenzen, LG Biesecker, KM Bowling, GM Cooper, ...
The American Journal of Human Genetics 107 (5), 932-941, 2020
532020
ClinGen Allele Registry links information about genetic variants
P Pawliczek, RY Patel, LR Ashmore, AR Jackson, C Bizon, T Nelson, ...
Human mutation 39 (11), 1690-1701, 2018
512018
Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels
DM Kanavy, SM McNulty, MK Jairath, SE Brnich, C Bizon, BC Powell, ...
Genome Medicine 11, 1-19, 2019
472019
Finding the rare pathogenic variants in a human genome
JP Evans, BC Powell, JS Berg
Jama 317 (18), 1904-1905, 2017
472017
Evaluating parents’ decisions about next-generation sequencing for their child in the NC NEXUS (North Carolina Newborn Exome Sequencing for Universal Screening) study: a …
LV Milko, C Rini, MA Lewis, RM Butterfield, FC Lin, RS Paquin, BC Powell, ...
Trials 19 (1), 344, 2018
362018
Transcriptional analysis of the conserved ftsZ gene cluster in Mycoplasma genitalium and Mycoplasma pneumoniae
GA Benders, BC Powell, CA Hutchison
Journal of bacteriology 187 (13), 4542-4551, 2005
362005
Characterizing reduced coverage regions through comparison of exome and genome sequencing data across 10 centers
RV Sanghvi, CJ Buhay, BC Powell, EA Tsai, MO Dorschner, CS Hong, ...
Genetics in Medicine 20 (8), 855-866, 2018
312018
Actionability of commercial laboratory sequencing panels for newborn screening and the importance of transparency for parental decision-making
DM DeCristo, LV Milko, JM O’Daniel, AKM Foreman, LF Mollison, ...
Genome Medicine 13 (1), 1-13, 2021
262021
Sustav trenutno ne može provesti ovu radnju. Pokušajte ponovo kasnije.
Članci 1–20