| Clinical utility of RNA sequencing to resolve unusual GNE myopathy with a novel promoter deletion S Chakravorty, K Berger, D Arafat, BRR Nallamilli, HP Subramanian, ... Muscle & nerve 60 (1), 98-103, 2019 | 16 | 2019 |
| Altered splicing associated with the pathology of inflammatory bowel disease K Berger, H Somineni, J Prince, S Kugathasan, G Gibson Human Genomics 15, 1-10, 2021 | 9 | 2021 |
| Targeted RNAseq improves clinical diagnosis of very early-onset pediatric immune dysregulation K Berger, D Arafat, S Chandrakasan, SB Snapper, G Gibson Journal of Personalized Medicine 12 (6), 919, 2022 | 3 | 2022 |
| Combinatorial clinically driven blood biomarker functional genomics significantly enhances genotype-phenotype resolution and diagnostics in neuromuscular disease S Chakravorty, K Berger, L Rufibach, L Gloster, S Emmons, S Shenoy, ... medRxiv, 2021.01. 14.21249850, 2021 | 1 | 2021 |
| Dietary modification, penetrance, and the origins of congenital malformation G Gibson, K Berger Proceedings of the National Academy of Sciences 117 (10), 5097-5099, 2020 | 1 | 2020 |
| Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy L Rufibach, K Berger, S Chakravorty, S Emmons, L Long, G Gibson, ... Journal of Personalized Medicine 13 (3), 520, 2023 | | 2023 |
| Advanced diagnostics and genotype-phenotype resolution using functional genomics in> 500 neuromuscular and neurological disorder patients S Chakravorty, L Gloster, K Berger, S Verma, R Logan, M Wicklund, ... Molecular Genetics and Metabolism 132, S110-S111, 2021 | | 2021 |
