Selected Publications

  1. Gao G, Liu G, Chen W, Tong Y, Mao C, Liu J, Zhang X, He MM*, Yang P*. A novel nonsense mutation in TNNT2 in a Chinese pedigree with hypertrophic cardiomyopathy: a case report. Medicine, 2020, 99, 34(e21843). [View PubMed]
  2. He MM*, Li Q, Yan M, Cao H, Hu Y, He, KY, Cao K, Li MM, Wang K*. Variant Interpretation for Cancer (VIC): a computational tool for assessing clinical impacts of somatic variantsGenome Medicine2019, 11(1), 53. [View PubMed]
  3. Li Y, Steppi A, Zhou Y, Mao F, Miller PC, He MM, Zhao T, Sun Q, Zhang J. Tumoral expression of drug and xenobiotic metabolizing enzymes in breast cancer patients of different ethnicities with implications to personalized medicineScientific reports2017, 7(1), 4747. [View PubMed]
  4. He KY, Ge D, He MM*Big data analytics for genomic medicineInternational journal of molecular sciences2017, 18(2), 412. [View PubMed]
  5. Shi Y, Steppi A, Cao Y, Wang J, He MM, Li L, Zhang J. Integrative comparison of mRNA expression patterns in breast cancers from Caucasian and Asian Americans with implications for precision medicineCancer research2017, 77(2), 423-433. [View PubMed]
  6. Yang H, Chen G, Lima L, Fang H, Jimenez L, Li M, Lyon GJ, He MM*, Wang K*. HadoopCNV: A dynamic programming imputation algorithm to detect copy number variants from sequencing databioRxiv2017, 124339. [View PubMed]
  7. Maadooliat M, Bansal NK, Upadhya J, Farazi MR, Li X, He MM, Hebbring SJ, Ye Z, Schrodi SJ. The decay of disease association with declining linkage disequilibrium: a fine mapping theoremFrontiers in genetics2016, 7, 217. [View PubMed]
  8. He KY, Zhao Y, McPherson EW, Li Q, Xia F, Weng C, Wang K, He MM*Pathogenic mutations in cancer-predisposing genes: A survey of 300 patients with whole-genome sequencing and lifetime electronic health recordsPLoS One2016 11(12), e0167847. [View PubMed]
  9. Ye Z, Tafti AP, He KY, Wang K, He MM*Sparktext: Biomedical text mining on big data frameworkPLoS One2016 11(9), e0162721 [View PubMed]
  10. Tafti AP, Holz JD, Baghaie A, Owen HA, He MM, Zeyun Yu. 3DSEM++: adaptive and intelligent 3D SEM surface reconstructionMicron2016, 87, 33-45. [View PubMed]
  11. Carter TC, He, MM*Challenges of identifying clinically actionable genetic variants for precision medicineJournal of Healthcare Engineering2016. doi:10.1155/2016/3617572. [View PubMed]
  12. Van Driest SL, Wells, QS, Stallings, S, et al. Association of Arrhythmia-Related Genetic Variants With Phenotypes Documented in Electronic Medical Records. JAMA, 2016, 315(1), 47-57. doi:10.1001/jama.2015.17701. [View PubMed]
  13. Zhang W, Yu Y, Hertwig F, et al. Comparison of RNA-seq and microarray-based models for clinical endpoint prediction. Genome Biol2015, 2015 Jun 25;16:133. doi: 10.1186/s13059-015-0694-1. [View PubMed]
  14. Schrodi SJ, Debarber A, He M, Ye Z, Peissig PL, VanWormer JJ, Haws R, Brilliant MH, Steiner RD. Prevalence estimation for monogenic autosomal recessive diseases using population-based genetic dataHuman Genetics2015, 134(6), 659-669. [View PubMed]
  15. He M*, Person TN, Hebbring SJ, Heinzen E, Ye Z, Schrodi SJ, McPherson EW, Lin SM, Peissig PL, Brilliant MH, O’Rawe J, Robison RJ, Lyon GJ, Wang K*. SeqHBase: a big data toolset for family based sequencing data analysisJournal of Medical Genetics2015, 52(4), 282-288. [View PubMed]
  16. Ye Z, Mayer J, Ivacic L, Zhou Y, He M, Schrodi SJ, Page CD, Brilliant MH, Scott J Hebbring SJ. Phenome-wide association studies (PheWASs) for functional variantsEuropean Journal of Human Genetics2015, 23(4), 523-529. [View PubMed]
  17. Mayer J, Kitchner T, Ye Z, Zhou ZY, He M, Schrodi SJ, Hebbring SJ. Use of an Electronic Medical Record to Create the Marshfield Clinic Twin/Multiple Birth CohortGenetic Epidemiology2014, 38(8), 692-698. [View PubMed]
  18. Chute CG, Ullman-Cullere M, Wood GM, Lin SM, He M, Pathak J. Some experiences and opportunities for big data in translational researchGenetics in Medicine2013, 15, 802-809. [View PubMed]
  19. Zhu Q, Ge D, Heinzen EL, Dickson SP, Urban TJ, Zhu M, Maia JM, He M, Zhao Q, Shianna KV, Goldstein DB. Prioritizing genetic variants for causality on the basis of preferential linkage disequilibriumAm J Hum Genet.2012, 91, 422-434. [View PubMed]
  20. Zhu M, Need AC, Han Y, Ge D, Maia JM, Zhu Q, Heinzen EL, Cirulli ET, Pelak K, He M, Ruzzo EK, Gumbs C, Singh A, Feng S, Shianna KV and Goldstein DB. Using ERDS to Infer Copy-Number Variants in High-Coverage GenomesAm J Hum Genet.2012, 91, 408-421. [View PubMed]
  21. Need AC, McEvoy JP, Gennarelli M, Heinzen EL, Ge D, Maia JM, Shianna KV, He M, Cirulli ET, Gumbs CE, Zhao Q, Rosenquist P, Levy DL, Meltzer HM, Goldstein DB. Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophreniaAm J Hum Genet.2012, 91, 303-312. [View PubMed]
  22. Heinzen EL, Depondt C, Cavalleri G, Ruzzo EK, Walley NM, Need AC, Ge D, He M, Cirulli ET, Zhao Q, Cronin KD, Gumbs CE, Campbell CR, Hong LK, Maia JM, Shianna KV, McCormack M, Radtke RA, Mikati MA, Gallentine WB, Husain AM, Sinha SR, Puranam RS, McNamara JO, Ottman R, Sisodiya SM, Delanty N, Goldstein DB. Exome sequencing followed by large scale genotyping fails to identify single rare variants of large effect in idiopathic generalized epilepsyAm J Hum Genet.2012, 91, 293-302. [View PubMed]
  23. Epstein MP, Duncan R, Broadaway KA, He M, Allen AS, Satten GA. Stratification Score Matching Improves Correction for Confounding by Population Stratification in Case-Control Association StudiesGenetic Epidemiology2012, 36, 195-205. [View PubMed]
  24. Ge D, Ruzzo EK, Shianna KV, He M, Pelak K, Heinzen EL, Need AC, Cirulli ET, Maia JM, Zhu M, Singh A, Allen AS, Goldstein DB. SVA: Software for Annotating and Visualizing Sequenced Human GenomesBioinformatics2011, 27, 1998-2000. [View PubMed]
  25. He M, Allen AS. Testing gene-treatment interactions in pharmacogetic studiesJournal of Biopharmaceutical Statistics, 2010, 20(2), 301-314. [View PubMed]
  26. Markert ML, Devlin BH, Alexieff MJ, Li J, McCarthy EA, Gupton SE, Chinn IK, Hale LP, Kepler TB, He M, Sarzotti M, Skinner MA, Rice HE, Hoehner JC. Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplantsBlood2007, 109, 4539-4547. [View PubMed]
  27. He M, Devlin BH, Markert ML, Sarzotti M, Kepler TB. SpA: Web-accessible Spectratype Analysis: application to investigate the development of TCR diversity in a patient with complete DiGeorge syndromeProceedings of The 2006 International Conference on Bioinformatics & Computational Biology – BIOCOMP’06 in Las Vegas, Nevada, Jun 26-29, 2006, 503-510. [View PDF]
  28. Liu CX, He M, Rooney B, Kepler TB, Chao NJ. Longitudinal Analysis of T-Cell Receptor Variable Beta Chain Repertoire in Patients with Acute Graft-versus-Host Disease after Allogeneic Stem Cell TransplantationBiology of Blood and Marrow Transplantation2006, 12, 335-345. [View PubMed]
  29. He M, Tomfohr JK, Devlin BH, Markert ML, Sarzotti M, Kepler TB. SpA: web-accessible spectratype analysis: data management, statistical analysis and visualization. Bioinformatics2005, 21, 3697-3699. [View PubMed]
  30. Kepler TB, He M, Tomfohr JK, Devlin BH, Sarzotti M, Markert ML. Statistical analysis of antigen receptor spectratype data. Bioinformatics, 2005, 21, 3394-3400. [View PubMed]
  31. He M, Yan XJ, Zhou JJ, Xie GR. Traditional Chinese Medicine Database and Application on the WebJ. Chem. Inf. Comput. Sci.2001, 41, 273-277. [View PubMed]

The full list of publications can be accessed here.