Prati
Natasha T. Strande
Natasha T. Strande
Senior Associate Consultant, Mayo
Potvrđena adresa e-pošte na mayo.edu
Naslov
Citirano
Citirano
Godina
Performance of ACMG-AMP variant-interpretation guidelines among nine laboratories in the clinical sequencing exploratory research consortium
LM Amendola, GP Jarvik, MC Leo, HM McLaughlin, Y Akkari, MD Amaral, ...
The American Journal of Human Genetics 98 (6), 1067-1076, 2016
6042016
Evaluating the clinical validity of gene-disease associations: an evidence-based framework developed by the clinical genome resource
NT Strande, ER Riggs, AH Buchanan, O Ceyhan-Birsoy, M DiStefano, ...
The American Journal of Human Genetics 100 (6), 895-906, 2017
4542017
Evaluating the clinical validity of hypertrophic cardiomyopathy genes
J Ingles, J Goldstein, C Thaxton, C Caleshu, EW Corty, SB Crowley, ...
Circulation: Genomic and Precision Medicine 12 (2), e002460, 2019
3332019
Ku is a 5′-dRP/AP lyase that excises nucleotide damage near broken ends
SA Roberts, N Strande, MD Burkhalter, C Strom, JM Havener, P Hasty, ...
Nature 464 (7292), 1214-1217, 2010
2552010
Organization and dynamics of the nonhomologous end-joining machinery during DNA double-strand break repair
DA Reid, S Keegan, A Leo-Macias, G Watanabe, NT Strande, HH Chang, ...
Proceedings of the National Academy of Sciences 112 (20), E2575-E2584, 2015
1722015
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
1692016
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
Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria
V Pejaver, AB Byrne, BJ Feng, KA Pagel, SD Mooney, R Karchin, ...
The American Journal of Human Genetics 109 (12), 2163-2177, 2022
1562022
Nonhomologous end joining: a good solution for bad ends
CA Waters, NT Strande, DW Wyatt, JM Pryor, DA Ramsden
DNA repair 17, 39-51, 2014
1512014
A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation
JE Hunter, SA Irving, LG Biesecker, A Buchanan, B Jensen, K Lee, ...
Genetics in Medicine 18 (12), 1258-1268, 2016
1012016
Estimated prevalence and clinical manifestations of UBA1 variants associated with VEXAS syndrome in a clinical population
DB Beck, DL Bodian, V Shah, UL Mirshahi, J Kim, Y Ding, SJ Magaziner, ...
Jama 329 (4), 318-324, 2023
892023
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
The fidelity of the ligation step determines how ends are resolved during nonhomologous end joining
CA Waters, NT Strande, JM Pryor, CN Strom, P Mieczkowski, ...
Nature communications 5 (1), 4286, 2014
852014
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
832020
Increasing the diagnostic yield of exome sequencing by copy number variant analysis
DS Marchuk, K Crooks, N Strande, K Kaiser-Rogers, LV Milko, A Brandt, ...
PloS one 13 (12), e0209185, 2018
782018
Specificity of the dRP/AP lyase of Ku promotes nonhomologous end joining (NHEJ) fidelity at damaged ends
N Strande, SA Roberts, S Oh, EA Hendrickson, DA Ramsden
Journal of Biological Chemistry 287 (17), 13686-13693, 2012
752012
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
642020
Defining the clinical value of a genomic diagnosis in the era of next-generation sequencing
NT Strande, JS Berg
Annual review of genomics and human genetics 17, 303-332, 2016
632016
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
Navigating the nuances of clinical sequence variant interpretation in Mendelian disease
NT Strande, SE Brnich, TS Roman, JS Berg
Genetics in Medicine 20 (9), 918-926, 2018
572018
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