Identification of discriminative gene-level and protein-level features associated with pathogenic gain-of-function and loss-of-function variants CS Bayrak, D Stein, A Jain, K Chaudhary, GN Nadkarni, TT Van Vleck, ... The American Journal of Human Genetics 108 (12), 2301-2318, 2021 | 29 | 2021 |
singlecellVR: interactive visualization of single-cell data in virtual reality DF Stein, H Chen, ME Vinyard, Q Qin, RD Combs, Q Zhang, L Pinello Frontiers in genetics 12, 764170, 2021 | 16 | 2021 |
Dynamics of the most common pathogenic mtDNA variant m. 3243A> G demonstrate frequency-dependency in blood and positive selection in the germline M Franco, SJ Pickett, Z Fleischmann, M Khrapko, A Cote-L’Heureux, ... Human Molecular Genetics 31 (23), 4075-4086, 2022 | 9* | 2022 |
Genome-wide prediction of pathogenic gain-and loss-of-function variants from ensemble learning of a diverse feature set D Stein, ME Kars, Y Wu, ÇS Bayrak, PD Stenson, DN Cooper, ... Genome Medicine 15 (1), 103, 2023 | 5 | 2023 |
Hybridization Chain Reaction Fluorescence In Situ Hybridization (HCR-FISH) in Ambystoma mexicanum Tissue AM Lovely, TJ Duerr, DF Stein, ET Mun, JR Monaghan Salamanders: Methods and Protocols, 109-122, 2022 | 5 | 2022 |
Structural signatures: a web server for exploring a database of and generating protein structural features from human cell lines and tissues N Zatorski, D Stein, R Rahman, R Iyengar, A Schlessinger Database 2022, baac053, 2022 | 1 | 2022 |
Individuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis ME Horesh, M Martin-Fernandez, C Gruber, S Buta, T Le Voyer, ... Journal of Experimental Medicine 221 (6), e20232387, 2024 | | 2024 |
Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications Á Duffy, BO Petrazzini, D Stein, JK Park, IS Forrest, K Gibson, HM Vy, ... Nature Genetics, 1-9, 2024 | | 2024 |
A comprehensive knowledgebase of known and predicted human genetic variants associated with COVID-19 susceptibility and severity ME Kars, D Stein, Ç Sevim Bayrak, PD Stenson, DN Cooper, Y Itan medRxiv, 2022.11. 03.22281867, 2022 | | 2022 |
Profiling the Spatial Dynamics of Limb Patterning in Regeneration and Development Using Enhanced V3 HCR‐FISH Probe Design E Mun, A Lovely, D Stein, J Monaghan The FASEB Journal 34 (S1), 1-1, 2020 | | 2020 |
Transcriptional Heterogeneity of Neural Stem Cells during Axolotl Salamander Spinal Cord Regeneration J Monaghan, T Jensen, D Stein, E Mun, M Maden The FASEB Journal 34 (S1), 1-1, 2020 | | 2020 |
Structural Signatures (sGES): A Web Tool for Enriching Gene Expression Signatures With Protein Structural Features N Zatorski, D Stein, R Rahman, R Iyengar, A Schlessinger Available at SSRN 3907622, 0 | | |