Year |
Citation |
Score |
2019 |
Hancock S, Ben-Shachar R, Adusei C, Oyolu CB, Evans EA, Kang HP, Haverty C, Muzzey D. Clinical experience across the fetal-fraction spectrum for a non-invasive prenatal screen with low test-failure rate. Ultrasound in Obstetrics & Gynecology : the Official Journal of the International Society of Ultrasound in Obstetrics and Gynecology. PMID 31671482 DOI: 10.1002/Uog.21904 |
0.347 |
|
2018 |
Hogan GJ, Vysotskaia VS, Beauchamp KA, Seisenberger S, Grauman PV, Haas KR, Hong SH, Jeon D, Kash S, Lai HH, Melroy LM, Theilmann MR, Chu CS, Iori K, Maguire JR, ... Evans EA, et al. Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification. Clinical Chemistry. PMID 29760218 DOI: 10.1373/Clinchem.2018.286823 |
0.438 |
|
2018 |
Muzzey D, Beauchamp KA, Grauman P, Hogan GJ, Haas KR, Gould GM, Wong KK, Lazarin G, Evans EA. 259: Copy number variant calling on a 176-disease expanded carrier screening panel American Journal of Obstetrics and Gynecology. 218. DOI: 10.1016/J.Ajog.2017.10.187 |
0.407 |
|
2017 |
Beauchamp KA, Muzzey D, Wong KK, Hogan GJ, Karimi K, Candille SI, Mehta N, Mar-Heyming R, Kaseniit KE, Kang HP, Evans EA, Goldberg JD, Lazarin GA, Haque IS. Systematic design and comparison of expanded carrier screening panels. Genetics in Medicine : Official Journal of the American College of Medical Genetics. PMID 28640244 DOI: 10.1038/Gim.2017.69 |
0.403 |
|
2017 |
Artieri CG, Haverty C, Evans EA, Goldberg JD, Haque IS, Yaron Y, Muzzey D. Noninvasive Prenatal Screening at Low Fetal Fraction: Comparing Whole-Genome Sequencing and Single-Nucleotide Polymorphism Methods. Prenatal Diagnosis. PMID 28317136 DOI: 10.1002/Pd.5036 |
0.333 |
|
2017 |
Vysotskaia VS, Hogan GJ, Gould GM, Wang X, Robertson AD, Haas KR, Theilmann MR, Spurka L, Grauman PV, Lai HH, Jeon D, Haliburton G, Leggett M, Chu CS, Iori K, ... ... Evans EA, et al. Development and validation of a 36-gene sequencing assay for hereditary cancer risk assessment. Peerj. 5: e3046. PMID 28243543 DOI: 10.7717/Peerj.3046 |
0.387 |
|
2017 |
Artieri CG, Beauchamp KA, Vysotskaia VS, Welker NC, Evans EA, Chu C, Tezcan H, Haque IS. Abstract 5690: Optimized molecular barcoding enables accurate targeted mutation detection in circulating cell-free DNA (cfDNA) Cancer Research. 77: 5690-5690. DOI: 10.1158/1538-7445.Am2017-5690 |
0.324 |
|
2017 |
Beauchamp KA, Grauman P, Hogan GJ, Haas KR, Gould GM, Wong KK, Lazarin GA, Evans E, Muzzey D. Copy number variant calling on a 177 gene expanded carrier screening panel reveals impact of hbb deletions Fertility and Sterility. 108. DOI: 10.1016/J.Fertnstert.2017.07.836 |
0.411 |
|
2016 |
Kaseniit KE, Theilmann MR, Robertson A, Evans EA, Haque IS. Group Testing Approach for Trinucleotide Repeat Expansion Disorder Screening. Clinical Chemistry. PMID 27540028 DOI: 10.1373/Clinchem.2016.259796 |
0.372 |
|
2016 |
Haque IS, Lazarin GA, Kang HP, Evans EA, Goldberg JD, Wapner RJ. Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening. Jama. 316: 734-742. PMID 27533158 DOI: 10.1097/01.Ogx.0000511254.16194.96 |
0.416 |
|
2016 |
Wong KK, Goldberg JD, Evans EA, Kang HP, Haque IS. Re: Carrier Screening is a Deficient Strategy for Determining Sperm Donor Eligibility and Reducing Risk of Disease in Recipient Children (From: Silver AJ, Larson JL, Silver MJ, et al. Genet Test Mol Biomarkers 2016;20:276-284). Genetic Testing and Molecular Biomarkers. 20: 413-414. PMID 27505438 DOI: 10.1089/Gtmb.2016.29019.Kkw |
0.322 |
|
2016 |
Kang HP, Maguire JR, Chu CS, Haque IS, Lai H, Mar-Heyming R, Ready K, Vysotskaia VS, Evans EA. Design and validation of a next generation sequencing assay for hereditary BRCA1 and BRCA2 mutation testing. Peerj. 4: e2162. PMID 27375968 DOI: 10.7717/Peerj.2162 |
0.373 |
|
2015 |
Muzzey D, Evans EA, Lieber C. Understanding the Basics of NGS: From Mechanism to Variant Calling. Current Genetic Medicine Reports. 3: 158-165. PMID 26566462 DOI: 10.1007/S40142-015-0076-8 |
0.322 |
|
2015 |
Haque IS, Lazarin GA, Raia M, Bellerose H, Evans EA, Goldberg JD. “Rare” disease is common: results from 388,994 expanded carrier screens of up to 108 genes Fertility and Sterility. 104. DOI: 10.1016/J.Fertnstert.2015.07.197 |
0.406 |
|
2014 |
Lazarin GA, Hawthorne F, Collins NS, Platt EA, Evans EA, Haque IS. Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels. Plos One. 9: e114391. PMID 25494330 DOI: 10.1371/Journal.Pone.0114391 |
0.361 |
|
2014 |
Weisinger R, Hawthorne F, Sheikh M, Wong K, Evans E, Haque I, Pyeritz R, Srinivasan R. 501: Strategies for population-wide genetic carrier screening: a cost-effectiveness analysis American Journal of Obstetrics and Gynecology. 210: S249. DOI: 10.1016/J.Ajog.2013.10.534 |
0.343 |
|
2014 |
Lazarin G, Ready K, Sheikh M, Haque I, Evans E. 182: Carrier screening for “Jewish” diseases in Non-Jewish populations: findings from pan-ethnic population screening American Journal of Obstetrics and Gynecology. 210: 102-102. DOI: 10.1016/J.Ajog.2013.10.215 |
0.354 |
|
2013 |
Klugman S, Schreiber-Agus N, Nazareth S, Evans EA. Detection of carriers in the Ashkenazi Jewish population: an objective comparison of high-throughput genotyping versus gene-by-gene testing. Genetic Testing and Molecular Biomarkers. 17: 763-7. PMID 23952016 DOI: 10.1089/Gtmb.2013.0105 |
0.381 |
|
2013 |
Lazarin GA, Haque IS, Nazareth S, Evans EA. Response to Stoll and Resta. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 15: 319-20. PMID 23552454 DOI: 10.1038/Gim.2013.19 |
0.388 |
|
2013 |
Lazarin GA, Haque IS, Nazareth S, Iori K, Patterson AS, Jacobson JL, Marshall JR, Seltzer WK, Patrizio P, Evans EA, Srinivasan BS. An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals. Genetics in Medicine : Official Journal of the American College of Medical Genetics. 15: 178-86. PMID 22975760 DOI: 10.1097/01.Ogx.0000433843.26579.49 |
0.379 |
|
2010 |
Srinivasan BS, Evans EA, Flannick J, Patterson AS, Chang CC, Pham T, Young S, Kaushal A, Lee J, Jacobson JL, Patrizio P. A universal carrier test for the long tail of Mendelian disease. Reproductive Biomedicine Online. 21: 537-51. PMID 20729146 DOI: 10.1016/J.Rbmo.2010.05.012 |
0.383 |
|
2008 |
Evans EA, Kawli T, Tan MW. Pseudomonas aeruginosa suppresses host immunity by activating the DAF-2 insulin-like signaling pathway in Caenorhabditis elegans. Plos Pathogens. 4: e1000175. PMID 18927620 DOI: 10.1371/Journal.Ppat.1000175 |
0.456 |
|
2008 |
Evans EA, Chen WC, Tan MW. The DAF-2 insulin-like signaling pathway independently regulates aging and immunity in C. elegans. Aging Cell. 7: 879-93. PMID 18782349 DOI: 10.1111/J.1474-9726.2008.00435.X |
0.461 |
|
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