| Biallelic Loss of Function Variants in SENP7 Cause Immunodeficiency with Neurologic and Muscular Phenotypes ES Kobayashi, NS Lotan, YD Schejter, C Makowski, V Kraus, ... The Journal of Pediatrics, 114180, 2024 | | 2024 |
| A vision for empirical ELSI along the R&D pipeline RM Rajagopalan, J Cakici, CS Bloss AJOB Empirical Bioethics, 1-6, 2023 | 1 | 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 | 5 | 2023 |
| 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 | 6 | 2023 |
| Precision Health Research Biobanking with Professional Athletes in the US: A qualitative study using Dissemination and Implementation Science JA Cakici UC San Diego, 2023 | | 2023 |
| 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 | 30 | 2022 |
| 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 | 50 | 2021 |
| Novel association of congenital neutropenia with a homozygous stop-gain variant in SENP7 ES Kobayashi, N Ramchandar, J Teijaro, J Cakici, E Farrow, I Thiffault, ... Molecular Genetics and Metabolism 132, S227-S228, 2021 | | 2021 |
| 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 | 29 | 2020 |
| 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 | 72 | 2020 |
| 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 | 127 | 2020 |
| 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 | 286 | 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 | 250 | 2019 |
| 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 | 383 | 2018 |
| 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 | 189 | 2018 |
| 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 |
| Newborn sequencing in genomic medicine and public health JS Berg, PB Agrawal, DB Bailey, AH Beggs, SE Brenner, AM Brower, ... Pediatrics 139 (2), 2017 | 231 | 2017 |
| 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 | 15 | 2017 |
| 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 |
| 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 |
