| Synonymous variants that disrupt messenger RNA structure are significantly constrained in the human population JBS Gaither, GE Lammi, JL Li, DM Gordon, HC Kuck, BJ Kelly, JR Fitch, ... GigaScience 10 (4), giab023, 2021 | 21 | 2021 |
| Discovery of clinically relevant fusions in pediatric cancer S LaHaye, JR Fitch, KJ Voytovich, AC Herman, BJ Kelly, GE Lammi, ... BMC genomics 22, 1-16, 2021 | 17 | 2021 |
| Global Analysis of Human mRNA Folding Disruptions in Synonymous Variants Demonstrates Significant Population Constraint JBS Gaither, GE Lammi, JL Li, DM Gordon, HC Kuck, BJ Kelly, JR Fitch, ... bioRxiv, 712679, 2019 | 2 | 2019 |
| CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation RJ Schuetz, AA Antoniou, GE Lammi, DM Gordon, HC Kuck, ... Human Mutation 2024, 2024 | | 2024 |
| 58. Implementing the ClinGen/CGC/VICC oncogenicity guidelines in a pediatric variant classification workflow W Goar, K Kuzma, K Stahl, K Voytovich, M Mathew, E Macke, M Babcock, ... Cancer Genetics 278, 18, 2023 | | 2023 |
| P654: Evaluation of the ClinGen/CGC/VICC Oncogenicity Guidelines to support pediatric variant classification workflows W Goar, K Kuzma, K Stahl, K Voytovich, M Mathew, E Macke, M Babcock, ... Genetics in Medicine Open 1 (1), 2023 | | 2023 |
| O13: Clinical validation of copy number alteration using paired tumor-normal exome sequencing: Challenges and successes K Schieffer, D Gordon, G Wheeler, G Lammi, D Corsmeier, D Depoorter, ... Genetics in Medicine Open 1 (1), 2023 | | 2023 |
| Application of constitutional rapid genome sequencing to detect infectious disease in a critically ill neonate M Schultz, J Fitch, G Lammi, E Crist, C Cottrell, V Magrini, B Chaudhari, ... Molecular Genetics and Metabolism 132, S273, 2021 | | 2021 |
| Outcomes of in-house rapid genome sequencing at a Children’s Hospital B Chaudhari, C Cottrell, V Magrini, P White, A Antoniou, S Choi, B Kelly, ... Molecular Genetics and Metabolism 132, S165-S166, 2021 | | 2021 |
| Determinants of turnaround time in a rapid genome sequencing program B Chaudhari, J Pitts, S Ravagnani, K Leraas, P White, V Magrini, ... Molecular Genetics and Metabolism, S354-S356, 2021 | | 2021 |
