| De novo coding variants are strongly associated with Tourette disorder AJ Willsey, TV Fernandez, D Yu, RA King, A Dietrich, J Xing, SJ Sanders, ... Neuron 94 (3), 486-499. e9, 2017 | 189 | 2017 |
| Noninvasive detection of microsatellite instability and high tumor mutation burden in cancer patients treated with PD-1 blockade A Georgiadis, JN Durham, LA Keefer, BR Bartlett, M Zielonka, D Murphy, ... Clinical Cancer Research 25 (23), 7024-7034, 2019 | 138 | 2019 |
| Clonal hematopoiesis is associated with risk of severe Covid-19 KL Bolton, Y Koh, MB Foote, H Im, J Jee, CH Sun, A Safonov, R Ptashkin, ... Nature communications 12 (1), 5975, 2021 | 118 | 2021 |
| Enhanced specificity of clinical high-sensitivity tumor mutation profiling in cell-free DNA via paired normal sequencing using MSK-ACCESS A Rose Brannon, G Jayakumaran, M Diosdado, J Patel, A Razumova, ... Nature communications 12 (1), 3770, 2021 | 108 | 2021 |
| Ado-trastuzumab emtansine in patients with HER2 amplified salivary gland cancers (SGCs): Results from a phase II basket trial. BT Li, R Shen, M Offin, DJ Buonocore, ML Myers, A Venkatesh, P Razavi, ... Journal of Clinical Oncology 37 (15_suppl), 6001-6001, 2019 | 72 | 2019 |
| Rb tumor suppressor in small cell lung cancer: combined genomic and IHC analysis with a description of a distinct Rb-proficient subset CA Febres-Aldana, JC Chang, R Ptashkin, Y Wang, E Gedvilaite, ... Clinical Cancer Research 28 (21), 4702-4713, 2022 | 55 | 2022 |
| Analysis of large-scale whole exome sequencing data to determine the prevalence of genetically-distinct forms of neuronal ceroid lipofuscinosis DE Sleat, E Gedvilaite, Y Zhang, P Lobel, J Xing Gene 593 (2), 284-291, 2016 | 49 | 2016 |
| Tumor fraction-guided cell-free DNA profiling in metastatic solid tumor patients DWY Tsui, ML Cheng, M Shady, JL Yang, D Stephens, H Won, ... Genome medicine 13 (1), 96, 2021 | 39 | 2021 |
| Extremely low-coverage whole genome sequencing in South Asians captures population genomics information N Rustagi, A Zhou, WS Watkins, E Gedvilaite, S Wang, N Ramesh, ... BMC genomics 18, 1-12, 2017 | 33 | 2017 |
| A rare variant in CACNA1D segregates with 7 bipolar I disorder cases in a large pedigree J Ross, E Gedvilaite, JA Badner, C Erdman, L Baird, N Matsunami, ... Molecular Neuropsychiatry 2 (3), 145-150, 2016 | 29 | 2016 |
| Enhanced specificity of high sensitivity somatic variant profiling in cell-free DNA via paired normal sequencing: design, validation, and clinical experience of the MSK-ACCESS … AR Brannon, G Jayakumaran, M Diosdado, J Patel, A Razumova, Y Hu, ... bioRxiv, 2020.06. 27.175471, 2020 | 23 | 2020 |
| Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development T Yusuff, M Jensen, S Yennawar, L Pizzo, S Karthikeyan, DJ Gould, ... PLoS genetics 16 (6), e1008792, 2020 | 13 | 2020 |
| CDKN2A/B mutations and allele-specific alterations stratify survival outcomes in IDH-mutant astrocytomas RA Hickman, E Gedvilaite, R Ptashkin, AS Reiner, R Cimera, ... Acta Neuropathologica 146 (6), 845-847, 2023 | 11 | 2023 |
| Microsatellite instability and mismatch repair deficiency define a distinct subset of lung cancers characterized by smoking exposure, high tumor mutational burden, and … SR Yang, E Gedvilaite, R Ptashkin, J Chang, J Ziegler, DA Mata, ... Journal of Thoracic Oncology 19 (3), 409-424, 2024 | 9 | 2024 |
| Matched molecular profiling of cell-free DNA and tumor tissue in patients with advanced clear cell renal cell carcinoma RR Kotecha, E Gedvilaite, R Ptashkin, A Knezevic, S Murray, I Johnson, ... JCO Precision Oncology 6, e2200012, 2022 | 8 | 2022 |
| Using whole‐exome sequencing to investigate the genetic bases of lysosomal storage diseases of unknown etiology N Wang, Y Zhang, E Gedvilaite, JW Loh, T Lin, X Liu, CG Liu, D Kumar, ... Human mutation 38 (11), 1491-1499, 2017 | 8 | 2017 |
| Associations between cancer predisposition mutations and clonal hematopoiesis in patients with solid tumors S Franch-Expósito, M Mehine, RN Ptashkin, KL Bolton, C Bandlamudi, ... JCO Precision Oncology 7, e2300070, 2023 | 7 | 2023 |
| Cell-free DNA from nail clippings as source of normal control for genomic studies in hematologic malignancies M Krystel-Whittemore, K Petrova-Drus, RN Ptashkin, MD Ewalt, JJ Yao, ... Haematologica 109 (10), 3269, 2024 | 2 | 2024 |
| Comparative genomic profiling from tumor tissue and circulating tumor DNA (ctDNA) in 111 patients (Pts) with metastatic clear cell renal cell carcinoma. R Kotecha, E Gedvilaite, SJ Murray, RJ Motzer, D Tsui, MH Voss Journal of Clinical Oncology 37 (15_suppl), 4565-4565, 2019 | 2 | 2019 |
| Plasma KRAS as a biomarker for pancreatic ductal adenocarcinoma (PDAC). BA Krantz, D Tsui, MA Lowery, M Capanu, KH Yu, DP Kelsen, ... Journal of Clinical Oncology 36 (4_suppl), 316-316, 2018 | 2 | 2018 |
Dana TsuiChief Scientific Officer, PetDx, IncDirección de correo verificada de petdx.com
