| Whole-genome sequencing for identification of Mendelian disorders in critically ill infants: a retrospective analysis of diagnostic and clinical findings LK Willig, JE Petrikin, LD Smith, CJ Saunders, I Thiffault, NA Miller, ... The Lancet Respiratory Medicine 3 (5), 377-387, 2015 | 371 | 2015 |
| Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization L Farnaes, A Hildreth, NM Sweeney, MM Clark, S Chowdhury, S Nahas, ... NPJ genomic medicine 3 (1), 10, 2018 | 368 | 2018 |
| A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases NA Miller, EG Farrow, M Gibson, LK Willig, G Twist, B Yoo, T Marrs, ... Genome medicine 7, 1-16, 2015 | 336 | 2015 |
| A randomized, controlled trial of the analytic and diagnostic performance of singleton and trio, rapid genome and exome sequencing in ill infants SF Kingsmore, JA Cakici, MM Clark, M Gaughran, M Feddock, S Batalov, ... The American Journal of Human Genetics 105 (4), 719-733, 2019 | 275 | 2019 |
| Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation MM Clark, A Hildreth, S Batalov, Y Ding, S Chowdhury, K Watkins, ... Science translational medicine 11 (489), eaat6177, 2019 | 244 | 2019 |
| Newborn sequencing in genomic medicine and public health JS Berg, PB Agrawal, DB Bailey, AH Beggs, SE Brenner, AM Brower, ... Pediatrics 139 (2), 2017 | 228 | 2017 |
| The NSIGHT1-randomized controlled trial: rapid whole-genome sequencing for accelerated etiologic diagnosis in critically ill infants JE Petrikin, JA Cakici, MM Clark, LK Willig, NM Sweeney, EG Farrow, ... NPJ Genomic Medicine 3 (1), 6, 2018 | 184 | 2018 |
| An RCT of rapid genomic sequencing among seriously ill infants results in high clinical utility, changes in management, and low perceived harm DP Dimmock, MM Clark, M Gaughran, JA Cakici, SA Caylor, C Clarke, ... The American Journal of Human Genetics 107 (5), 942-952, 2020 | 119 | 2020 |
| Constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences GP Twist, A Gaedigk, NA Miller, EG Farrow, LK Willig, DL Dinwiddie, ... NPJ genomic medicine 1 (1), 1-10, 2016 | 118 | 2016 |
| A prospective study of parental perceptions of rapid whole-genome and-exome sequencing among seriously ill infants JA Cakici, DP Dimmock, SA Caylor, M Gaughran, C Clarke, C Triplett, ... The American Journal of Human Genetics 107 (5), 953-962, 2020 | 70 | 2020 |
| Rapid whole genome sequencing impacts care and resource utilization in infants with congenital heart disease NM Sweeney, SA Nahas, S Chowdhury, S Batalov, M Clark, S Caylor, ... NPJ genomic medicine 6 (1), 29, 2021 | 46 | 2021 |
| Clinical detection of deletion structural variants in whole-genome sequences AC Noll, NA Miller, LD Smith, B Yoo, S Fiedler, LD Cooley, LK Willig, ... NPJ genomic medicine 1 (1), 1-11, 2016 | 34 | 2016 |
| A systematic literature review of Native American and Pacific Islanders’ perspectives on health data privacy in the United States R Taitingfong, CS Bloss, C Triplett, J Cakici, N Garrison, S Cole, JA Stoner, ... Journal of the American Medical Informatics Association 27 (12), 1987-1998, 2020 | 24 | 2020 |
| A citation analysis and scoping systematic review of the operationalization of the Practical, Robust Implementation and Sustainability Model (PRISM) BA Rabin, J Cakici, CA Golden, PA Estabrooks, RE Glasgow, B Gaglio Implementation Science 17 (1), 62, 2022 | 23 | 2022 |
| Erratum: constellation: a tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences GP Twist, A Gaedigk, NA Miller, EG Farrow, LK Willig, DL Dinwiddie, ... NPJ genomic medicine 2, 16039, 2017 | 14 | 2017 |
| A systematic review of dissemination and implementation science capacity building programs around the globe C Viglione, NA Stadnick, B Birenbaum, O Fang, JA Cakici, GA Aarons, ... Implementation science communications 4 (1), 34, 2023 | 5 | 2023 |
| Assessing diversity in newborn genomic sequencing research recruitment: Race/ethnicity and primary spoken language variation in eligibility, enrollment, and reasons for declining JA Cakici, D Dimmock, S Caylor, M Gaughran, C Clarke, C Triplett, ... Clinical Therapeutics 45 (8), 736-744, 2023 | 3 | 2023 |
| Constellation: A tool for rapid, automated phenotype assignment of a highly polymorphic pharmacogene, CYP2D6, from whole-genome sequences GP Twist, A Gaedigk, NA Miller, EG Farrow, LK Willig, DL Dinwiddie, ... NPJ Genomic Medicine 2, 16039, 2017 | 3 | 2017 |
| Rapid whole genome sequencing decreases morbidity and healthcare cost of hospitalized infants L Farnaes, A Hildreth, NM Sweeney, MM Clark, S Chowdhury, S Nahas, ... bioRxiv, 253534, 2018 | 2 | 2018 |
| A Vision for Empirical ELSI along the R&D Pipeline RM Rajagopalan, J Cakici, CS Bloss AJOB Empirical Bioethics, 1-6, 2023 | | 2023 |
