| An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals GA Lazarin, IS Haque, S Nazareth, K Iori, AS Patterson, JL Jacobson, ... Genetics in Medicine 15 (3), 178-186, 2013 | 286 | 2013 |
| Pseudomonas aeruginosa Suppresses Host Immunity by Activating the DAF-2 Insulin-Like Signaling Pathway in Caenorhabditis elegans EA Evans, T Kawli, MW Tan PLoS pathogens 4 (10), e1000175, 2008 | 245 | 2008 |
| Modeled fetal risk of genetic diseases identified by expanded carrier screening IS Haque, GA Lazarin, HP Kang, EA Evans, JD Goldberg, RJ Wapner Jama 316 (7), 734-742, 2016 | 204 | 2016 |
| Understanding the basics of NGS: from mechanism to variant calling D Muzzey, EA Evans, C Lieber Current genetic medicine reports 3 (4), 158-165, 2015 | 180 | 2015 |
| The DAF‐2 insulin‐like signaling pathway independently regulates aging and immunity in C. elegans EA Evans, WC Chen, MW Tan Aging cell 7 (6), 879-893, 2008 | 154 | 2008 |
| Systematic classification of disease severity for evaluation of expanded carrier screening panels GA Lazarin, F Hawthorne, NS Collins, EA Platt, EA Evans, IS Haque PloS one 9 (12), e114391, 2014 | 114 | 2014 |
| A universal carrier test for the long tail of Mendelian disease BS Srinivasan, EA Evans, J Flannick, AS Patterson, CC Chang, T Pham, ... Reproductive biomedicine online 21 (4), 537-551, 2010 | 113 | 2010 |
| System and methods for detecting genetic variation H Richards, E Evans, B Srinivasan, S Srinivasan, S Abhik, AS Patterson, ... US Patent 9,092,401, 2015 | 91 | 2015 |
| Validation of an expanded carrier screen that optimizes sensitivity via full-exon sequencing and panel-wide copy number variant identification GJ Hogan, VS Vysotskaia, KA Beauchamp, S Seisenberger, PV Grauman, ... Clinical chemistry 64 (7), 1063-1073, 2018 | 70 | 2018 |
| Systematic design and comparison of expanded carrier screening panels KA Beauchamp, D Muzzey, KK Wong, GJ Hogan, K Karimi, SI Candille, ... Genetics in Medicine 20 (1), 55-63, 2018 | 61 | 2018 |
| SPAM1 (PH-20) protein and mRNA expression in the epididymides of humans and macaques: utilizing laser microdissection/RT-PCR EA Evans, H Zhang, PA Martin-DeLeon Reproductive Biology and Endocrinology 1, 1-12, 2003 | 55 | 2003 |
| Combinatorial DNA screening JR Maguire, C Chu, IS Haque, EA Evans, N Welker US Patent 10,597,717, 2020 | 51 | 2020 |
| Noninvasive prenatal screening at low fetal fraction: comparing whole‐genome sequencing and single‐nucleotide polymorphism methods CG Artieri, C Haverty, EA Evans, JD Goldberg, IS Haque, Y Yaron, ... Prenatal diagnosis 37 (5), 482-490, 2017 | 42 | 2017 |
| Smith–Lemli–Opitz syndrome carrier frequency and estimates of in utero mortality rates GA Lazarin, IS Haque, EA Evans, JD Goldberg Prenatal Diagnosis 37 (4), 350-355, 2017 | 39 | 2017 |
| Methods of predicting pathogenicity of genetic sequence variants IS Haque, EA Evans, SM Vikram, MD Rasmussen US Patent App. 15/189,957, 2016 | 31 | 2016 |
| Methods and compositions for high-throughput sequencing H Richards, E Evans, B Srinivasan, S Srinivasan, C Chu US Patent App. 13/551,587, 2014 | 28 | 2014 |
| Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment VS Vysotskaia, GJ Hogan, GM Gould, X Wang, AD Robertson, KR Haas, ... PeerJ 5, e3046, 2017 | 27 | 2017 |
| Systems and methods for prenatal genetic analysis E Evans, C Chu, D Davison, H Richards US Patent App. 14/207,141, 2014 | 26 | 2014 |
| Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing HP Kang, JR Maguire, CS Chu, IS Haque, H Lai, R Mar-Heyming, ... PeerJ 4, e2162, 2016 | 25 | 2016 |
| Methods and compositions for enrichment of target polynucleotides H Richards, E Evans, B Srinivasan, S Srinivasan, C Chu US Patent App. 13/551,590, 2014 | 24 | 2014 |
Imran S HaqueRecursion Pharmaceuticals在 cs.stanford.edu 的电子邮件经过验证
