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 | 614 | 2016 |
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 | 475 | 2017 |
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 | 343 | 2019 |
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 | 256 | 2010 |
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 | 180 | 2022 |
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 | 174 | 2015 |
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 | 171 | 2016 |
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 | 161 | 2017 |
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 | 155 | 2014 |
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 | 105 | 2016 |
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 | 103 | 2023 |
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 | 87 | 2014 |
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 | 86 | 2016 |
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 | 84 | 2020 |
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 | 79 | 2018 |
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 | 76 | 2012 |
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 | 67 | 2020 |
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 (1), 303-332, 2016 | 66 | 2016 |
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 | 60 | 2019 |
Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup LC Walker, M de la Hoya, GAR Wiggins, A Lindy, LM Vincent, MT Parsons, ... The American Journal of Human Genetics 110 (7), 1046-1067, 2023 | 59 | 2023 |