Full list of publications

 

 

Research Publications, peer reviewed (print or other media):

   

1. Asmann YW, Kosari F, Wang K, Cheville JC, Vasmatzis G: Identification of differentially expressed genes in normal and malignant prostate by electronic profiling of expressed sequence tags. Cancer Res 62(11): 3308-3314, June 2002.

     
   

2. Wang K, Samudrala R, Mittler J: Weak agreement between Antivirogram and Phenosense assays in predicting reduced susceptibility to antiretroviral drugs. J Clin Microbiol 42(5): 2353-2354, May 2004.

     
   

3. Jenwitheesuk E, Wang K, Mittler JE, Samudrala R: Improved accuracy of HIV-1 genotypic susceptibility interpretation using a consensus approach. AIDS 18(13): 1858-1859, September 2004.

     
   

4. Wang K, Samudrala R, Mittler JE: HIV-1 genotypic drug-resistance interpretation algorithms need to include hypersusceptibility-associated mutations. J Infect Dis 190(11): 2055-2056, December 2004 Notes: doi: 10.1086/423489.

     
   

5. Jenwitheesuk E, Wang K, Mittler JE, Samudrala R: PIRSpred: a web server for reliable HIV-1 protein-inhibitor resistance/susceptibility prediction. Trends Microbiol 13(4): 150-151, April 2005 Notes: doi: 10.1016/j.tim.2005.02.003.

     
   

6. Wang K, Samudrala R: FSSA: a novel method for identifying functional signatures from structural alignments. Bioinformatics 21(13): 2969-2977, July 2005 Notes: doi: 10.1093/bioinformatics/bti471.

     
   

7. Wang K, Samudrala R: Automated functional classification of experimental and predicted protein structures. BMC Bioinformatics 2(7): 278, June 2006 Notes: doi: 10.1186/1471-2105-7-278.

     
   

8. Wang K, Samudrala R: Incorporating background frequency improves entropy-based residue conservation measures. BMC Bioinformatics 17(7): 385, August 2006 Notes: doi: 10.118/1471-2105-7-385.

     
   

9. Yang S, Wang K*, Valladares O, Hannenhalli S, Bucan M: Genome-wide expression profiling and bioinformatics analysis of diurnally regulated genes in the mouse prefrontal corte. Genome Biol 8(11): R247, August 2007 Notes: doi: 10.1186/gb-2007-8-11-r247; *co-first author.

     
   

10. Wang K, Li M, Hadley D, Liu R, Glessner J, Grant SF, Hakonarson H, Bucan M: PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data. Genome Res 17(11): 1665-1674, November 2007.

     
   

11. Wang K, Li M, Bucan M: Pathway-based approaches for analysis of genomewide association studies. Am J Hum Genet 81(6): 1278-1283, December 2007.

     
   

12. Jakobsson M, Scholz SW, Scheet P, Gibbs JR, VanLiere JM, Fung HC, Szpiech ZA, Degnan JH, Wang K, Guerreiro R, Bras JM, Schymick JC, Hernandez DG, Traynor BJ, Simon-Sanchez J, Matarin M, Britton A, van de Leemput J, Rafferty I, Bucan M, Cann HM, Hardy JA, Rosenberg NA, Singleton AB: Genotype, haplotype and copy-number variation in worldwide human populations. Nature 451(7181): 998-1003, February 2008 Notes: doi: 10.1038/nature06742.

     
   

13. Wang K, Bucan M.: Copy Number Variation Detection via High-Density SNP Genotyping. CSH Protoc June 2008 Notes: doi: 10.1101/pdb.topp46.

     
   

14. Wang K, Horst JA, Cheng G, Nickle DC, Samudrala R: Protein meta-functional signatures from combining sequence, structure, evolution, and amino acid property information. PLoS Comput Biol 4(9): e1000181, September 2008 Notes: doi: 10.1371/journal.pcbi.1000181.

     
   

15. Diskin SJ, Li M, Hou C, Yang S, Glessner J, Hakonarson H, Bucan M, Maris JM, Wang K*: Adjustment of genomic waves in signal intensities from whole-genome SNP genotyping platforms. Nucleic Acids Res 36(19): e126, November 2008 Notes: doi: 10.1093/nar/gkn556. *Co-Corresponding author.

     
   

16. Wang K*, Chen Z, Tadesse MG, Glessner J, Grant SF, Hakonarson H, Bucan M, Li M: Modeling genetic inheritance of copy number variations. Nucleic Acids Res 36(21): e183, December 2008 Notes: doi: 10.1093/nar/gkn641. *Co-corresponding author.

     
   

17. Li M, Wang K, Grant SF, Hakonarson H, Li C.: ATOM: a powerful gene-based association test by combining optimally weighted markers. Bioinformatics 25(4): 497-503, February 2009 Notes: doi: 10.1093/bioinformatics/btn641.

     
   

18. Yang S, Van Dongen HP, Wang K, Berrettini W, Bućan M: Assessment of circadian function in fibroblasts of patients with bipolar disorder. Mol Psychiatry 14(2): 143-155, February 2009 Notes: coi:10.38/mp.2008.10.

     
   

19. Yang S, Wang K, Gregory B, Berrettini W, Wang LS, Hakonarson H, Bucan M: Genomic landscape of a three-generation pedigree segregating affective disorder. PLoS One 4(2): e4474, February 2009 Notes: doi: 10.1371/journal.pone.0004474.

     
   

20. Wang K, Zhang H, Kugathasan S, Annese V, Bradfield JP, Russell RK, Sleiman PM, Imielinski M, Glessner J, Hou C, Wilson DC, Walters T, Kim C, Frackelton EC, Lionetti P, Barabino A, Van Limbergen J, Guthery S, Denson L, Piccoli D, Li M, Dubinsky M, Silverberg M, Griffiths A, Grant SF, Satsangi J, Baldassano R, Hakonarson H: Diverse genome-wide association studies associate the IL12/IL23 pathway with Crohn Disease. Am J Hum Genet 84(3): 399-405, March 2009 Notes: doi: 10.1016/j.ajhg2009.01.026.

     
   

21. Glessner JT, Wang K, Cai G, Korvatska O, Kim CE, Wood S, Zhang H, Estes A, Brune CW, Bradfield JP, Imielinski M, Frackelton EC, Reichert J, Crawford EL, Munson J, Sleiman PM, Chiavacci R, Annaiah K, Thomas K, Hou C, Glaberson W, Flory J, Otieno F, Garris M, Soorya L, Klei L, Piven J, Meyer KJ, Anagnostou E, Sakurai T, Game RM, Rudd DS, Zurawiecki D, McDougle CJ, Davis LK, Miller J, Posey DJ, Michaels S, Kolevzon A, Silverman JM, Bernier R, Levy SE, Schultz RT, Dawson G, Owley T, McMahon WM, Wassink TH, Sweeney JA, Nurnberger JI, Coon H, Sutcliffe JS, Minshew NJ, Grant SF, Bucan M, Cook EH, Buxbaum JD, Devlin B, Schellenberg GD, Hakonarson H: Autism genome-wide copy number variation reveals ubiquitin and neuronal genes. Nature 459(7246): 569-573, May 2009 Notes: doi: 10.1038/nature07953.

     
   

22. Wang K, Zhang H, Ma D, Bucan M, Glessner JT, Abrahams BS, Salyakina D, Imielinski M, Bradfield JP, Sleiman PM, Kim CE, Hou C, Frackelton E, Chiavacci R, Takahashi N, Sakurai T, Rappaport E, Lajonchere CM, Munson J, Estes A, Korvatska O, Piven J, Sonnenblick LI, Alvarez Retuerto AI, Herman EI, Dong H, Hutman T, Sigman M, Ozonoff S, Klin A, Owley T, Sweeney JA, Brune CW, Cantor RM, Bernier R, Gilbert JR, Cuccaro ML, McMahon WM, Miller J, State MW, Wassink TH, Coon H, Levy SE, Schultz RT, Nurnberger JI, Haines JL, Sutcliffe JS, Cook EH, Minshew NJ, Buxbaum JD, Dawson G, Grant SF, Geschwind DH, Pericak-Vance MA, Schellenberg GD, Hakonarson H: Common genetic variants on 5p14.1 associate with autism spectrum disorders. Nature 459(7246): 528-533, May 2009 Notes: doi: 10.1038/nature07999.

     
   

23. Bucan M, Abrahams BS, Wang K, Glessner JT, Herman EI, Sonnenblick LI, Alvarez Retuerto AI, Imielinski M, Hadley D, Bradfield JP, Kim C, Gidaya NB, Lindquist I, Hutman T, Sigman M, Kustanovich V, Lajonchere CM, Singleton A, Kim J, Wassink TH, McMahon WM, Owley T, Sweeney JA, Coon H, Nurnberger JI, Li M, Cantor RM, Minshew NJ, Sutcliffe JS, Cook EH, Dawson G, Buxbaum JD, Grant SF, Schellenberg GD, Geschwind DH, Hakonarson H: Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes. PLoS Genet 5(6): e1000536, June 2009 Notes: doi: 10.1371/journal.pgen.1000536.

     
   

24. Diskin SJ, Hou C, Glessner JT, Attiyeh EF, Laudenslager M, Bosse K, Cole K, Mossé YP, Wood A, Lynch JE, Pecor K, Diamond M, Winter C, Wang K, Kim C, Geiger EA, McGrady PW, Blakemore AI, London WB, Shaikh TH, Bradfield J, Grant SF, Li H, Devoto M, Rappaport ER, Hakonarson H, Maris JM: Copy number variation at 1q21.1 associated with neuroblastoma. Nature 459(7249): 987-991, June 2009 Notes: doi: 10.1038/nature08035.

     
   

25. Grant SF, Bradfield JP, Zhang H, Wang K, Kim CE, Annaiah K, Santa E, Glessner JT, Thomas K, Garris M, Frackelton EC, Otieno FG, Shaner JL, Smith RM, Imielinski M, Chiavacci RM, Li M, Berkowitz RI, Hakonarson H: Investigation of the locus near MC4R with childhood obesity in Americans of European and African ancestry. Obesity 17(7): 1461-1465, July 2009 Notes: doi: 10.1038/oby.2009.53.

     
   

26. Wei Z, Wang K, Qu HQ, Zhang H, Bradfield J, Kim C, Frackleton E, Hou C, Glessner JT, Chiavacci R, Stanley C, Monos D, Grant SF, Polychronakos C, Hakonarson H: From disease association to risk assessment: an optimistic view from genome-wide association studies on type 1 diabetes. PLoS Genet 5(10): e1000678, October 2009 Notes: doi: 10.1371/journal.pgen.1000678. Co-first author.

     
   

27. Zhao J, Li M, Bradfield JP, Wang K, Zhang H, Sleiman P, Kim CE, Annaiah K, Glaberson W, Glessner JT, Otieno FG, Thomas KA, Garris M, Hou C, Frackelton EC, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SF: Examination of type 2 diabetes loci implicates CDKAL1 as a birth weight gene. Diabetes 58(10): 2414-2418, October 2009 Notes: coi: 10.2337/db09-0506.

     
   

28. Wei Z, Sun W, Wang K, Hakonarson : Multiple testing in genome-wide association studies via hidden Markov models. Bioinformatics 25(21): 2802-2808, November 2009 Notes: doi: 10.1983/bioinformatics/btp476.

     
   

29. Grant SF, Wang K, Zhang H, Glaberson W, Annaiah K, Kim CE, Bradfield JP, Glessner JT, Thomas KA, Garris M, Frackelton EC, Otieno FG, Chiavacci RM, Nah HD, Kirschner RE, Hakonarson H: A genome-wide association study identifies a locus for nonsyndromic cleft lip with or without cleft palate on 8q24. J Pediatr 155(6): 909-913, December 2009 Notes: doi: 10.1016/j.peds.2009.06.020.

     
   

30. Imielinski M, Baldassano RN, Griffiths A, Russell RK, Annese V, Dubinsky M, Kugathasan S, Bradfield JP, Walters TD, Sleiman P, Kim CE, Muise A, Wang K, Glessner JT, Saeed S, Zhang H, Frackelton EC, Hou C, Flory JH, Otieno G, Chiavacci RM, Grundmeier R, Castro M, Latiano A, Dallapiccola B, Stempak J, Abrams DJ, Taylor K, McGovern D; Western Regional Alliance for Pediatric IBD, Silber G, Wrobel I, Quiros A; International IBD Genetics Consortium, Barrett JC, Hansoul S, Nicolae DL, Cho JH, Duerr RH, Rioux JD, Brant SR, Silverberg MS, Taylor KD, Barmuda MM, Bitton A, Dassopoulos T, Datta LW, Green T, Griffiths AM, Kistner EO, Murtha MT, Regueiro MD, Rotter JI, Schumm LP, Steinhart AH, Targan SR, Xavier RJ; NIDDK IBD Genetics Consortium, Libioulle C, Sandor C, Lathrop M, Belaiche J, Dewit O, Gut I, Heath S, Laukens D, Mni M, Rutgeerts P, Van Gossum A, Zelenika D, Franchimont D, Hugot JP, de Vos M, Vermeire S, Louis E; Belgian-French IBD Consortium; Wellcome Trust Case Control Consortium, Cardon LR, Anderson CA, Drummond H, Nimmo E, Ahmad T, Prescott NJ, Onnie CM, Fisher SA, Marchini J, Ghori J, Bumpstead S, Gwillam R, Tremelling M, Delukas P, Mansfield J, Jewell D, Satsangi J, Mathew CG, Parkes M, Georges M, Daly MJ, Heyman MB, Ferry GD, Kirschner B, Lee J, Essers J, Grand R, Stephens M, Levine A, Piccoli D, Van Limbergen J, Cucchiara S, Monos DS, Guthery SL, Denson L, Wilson DC, Grant SF, Daly M, Silverberg MS, Satsangi J, Hakonarson H: Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet 41(12): 1335-1340, December 2009 Notes: doi: 10.1038/ng.489.

     
   

31. Zhao J, Bradfield JP, Li M, Wang K, Zhang H, Kim CE, Annaiah K, Glessner JT, Thomas K, Garris M, Frackelton EC, Otieno FG, Shaner JL, Smith RM, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SF: The role of obesity-associated loci identified in genome-wide association studies in the determination of pediatric BMI. Obesity 17(12): 2254-2257, December 2009 Notes: doi: 10.1038/oby.2009.159.

     
   

32. Dickson SP, Wang K, Krantz I, Hakonarson H, Goldstein D: Rare variants create synthetic genome-wide associations. PLoS Biol 8(1): e10000294, January 2010 Notes: doi: 10.1371/journal.pbio.1000294.

     
   

33. Sleiman PM, Flory J, Imielinski M, Bradfield JP, Annaiah K, Willis-Owen SA, Wang K, Rafaels NM, Michel S, Bonnelykke K, Zhang H, Kim CE, Frackelton EC, Glessner JT, Hou C, Otieno FG, Santa E, Thomas K, Smith RM, Glaberson WR, Garris M, Chiavacci RM, Beaty TH, Ruczinski I, Orange JS, Allen J, Spergel JM, Grundmeier R, Mathias RA, Christie JD, von Mutius E, Cookson WO, Kabesch M, Moffatt MF, Grunstein MM, Barnes KC, Devoto M, Magnusson M, Li H, Grant SF, Bisgaard H, Hakonarson H: Variants of DENND1B associated with asthma in children. N Engl J Med 362(1): 36-44, January 2010 Notes: doi: 10.1056/NEJMoa0901867.

     
   

34. He J, Wang K, Edmondson AC, Rader DJ, Li C, Li M: Gene-based interaction analysis by incorporating external linkage disequilibrium information. Eur J Hum Genet 19(2): 164-172, February 2010 Notes: doi: 10.38/ejhg.2010.164.

     
   

35. Zhao J, Bradfield JP, Zhang H, Annaiah K, Wang K, Kim CE, Glessner JT, Frackelton EC, Otieno FG, Doran J, Thomas KA, Garris M, Hou C, Chiavacci RM, Li M, Berkowitz RI, Hakonarson H, Grant SF: Examination of all type 2 diabetes GWAS loci reveals HHEX-IDE as a locus influencing pediatric BMI. Diabetes 59(3): 751-755, March 2010 Notes: doi: 10.2337/db09-0972.

     
   

36. Wang K, Baldassano R, Zhang H, Qu HQ, Imielinski M, Kugathasan S, Annese V, Dubinsky M, Rotter JI, Russell RK, Bradfield JP, Sleiman PM, Glessner JT, Walters T, Hou C, Kim C, Frackelton EC, Garris M, Doran J, Romano C, Catassi C, Van Limbergen J, Guthery SL, Denson L, Piccoli D, Silverberg MS, Stanley CA, Monos D, Wilson DC, Griffiths A, Grant SF, Satsangi J, Polychronakos C, Hakonarson H: Comparative genetic analysis of inflammatory bowel disease and type 1 diabetes implicates multiple loci with opposite effects. Hum Mol Genet 19(10): 2059-2967, May 2010 Notes: dio: 10.1093/hmg/ddq078.

     
   

37. Wang K1, Dickson SP, Stolle CA, Krantz ID, Goldstein DB, Hakonarson H: Interpretation of association signals and identification of causal variants from genome-wide association studies. Am J. Hum Genet 86(5): 730-742, May 2010.

     
   

38. Zhao J, Li M, Bradfield JP, Zhang H, Mentch FD, Wang K, Sleiman PM, Kim CE, Glessner JT, Hou C, Keating BJ, Thomas KA, Garris ML, Deliard S, Frackelton EC, Otieno FG, Chiavacci RM, Berkowitz RI, Hakonarson H, Grant SF: The role of height-associated loci identified in genome wide association studies in the determination of pediatric stature. BMC Med Genet 11: 96, June 2010 Notes: doi: 10.1086/1471-2350-96.

     
   

39. Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Bader GD, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung BH, Cochrane L, Corsello C, Crawford EL, Crossett A, Cytrynbaum C, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green A, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Pilorge M, Piven J, Ponting CP, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Sequeira AF, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stein O, Sykes N, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Webber C, Weksberg R, Wing K, Wittemeyer K, Wood S, Wu J, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Devlin B, Ennis S, Gallagher L, Geschwind DH, Gill M, Haines JL, Hallmayer J, Miller J, Monaco AP, Nurnberger JI Jr, Paterson AD, Pericak-Vance MA, Schellenberg GD, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Scherer SW, Sutcliffe JS, Betancur C.: Functional impact of global rare copy number variation in autism spectrum disorders. Nature 466(7304): 368-376, July 2010 Notes: doi: 1038/nature09146.

     
   

40. Wang K, Bucan M, Grant SF, Schellenberg G, Hakonarson H: Strategies for genetic studies of complex diseases. Cell 142(3): 351-353, August 2010 Notes: doi: 10.1016/j.cell.2010.07.025.

     
   

41. Wang K, Li M, Hakonarson H.: ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data. Nucleic Acids Res 38(16): 154, September 2010 Notes: doi: 10.1093/nar/gkq603.

     
   

42. Wang LS, Hranilovic D, Wang K, Lindquist IE, Yurcaba L, Petkovic ZB, Gidaya N, Jernej B, Hakonarson H, Bucan M: Population-based study of genetic variation in individuals with autism spectrum disorders from Croatia. BMC Med Genet 11: 134, September 2010 Notes: doi: 10.1186/1471-2350-11-134.

     
   

43. Amstadter AB, Balachandar V, Bergen SE, Ceulemans S, Christensen JH, Cole J, Dagdan E, De Luca V, Ducci F, Tee SF, Hartz S, Keers R, Medland S, Melas PA, Mühleisen TW, Ozomaro U, Pidsley R, Scott AP, Sha L, Talati A, Teltsh O, Videtic A, Wang K, Wong CC, Delisi LE.: Selected summaries from the XVII World Congress of Psychiatric Genetics, San Diego, California, USA, 4-8 November 2009. Psychiatr Genet 20(5): 229-268, October 2010 Notes: doi: 10.1097/YPG.0b013e32833d17.c3.

     
   

44. Anney R, Klei L, Pinto D, Regan R, Conroy J, Magalhaes TR, Correia C, Abrahams BS, Sykes N, Pagnamenta AT, Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova N, Bölte S, Bolton PF, Bourgeron T, Brennan S, Brian J, Carson AR, Casallo G, Casey J, Chu SH, Cochrane L, Corsello C, Crawford EL, Crossett A, Dawson G, de Jonge M, Delorme R, Drmic I, Duketis E, Duque F, Estes A, Farrar P, Fernandez BA, Folstein SE, Fombonne E, Freitag CM, Gilbert J, Gillberg C, Glessner JT, Goldberg J, Green J, Guter SJ, Hakonarson H, Heron EA, Hill M, Holt R, Howe JL, Hughes G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Korvatska O, Kustanovich V, Lajonchere CM, Lamb JA, Laskawiec M, Leboyer M, Le Couteur A, Leventhal BL, Lionel AC, Liu XQ, Lord C, Lotspeich L, Lund SC, Maestrini E, Mahoney W, Mantoulan C, Marshall CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Melhem NM, Merikangas A, Migita O, Minshew NJ, Mirza GK, Munson J, Nelson SF, Noakes C, Noor A, Nygren G, Oliveira G, Papanikolaou K, Parr JR, Parrini B, Paton T, Pickles A, Piven J, Posey DJ, Poustka A, Poustka F, Prasad A, Ragoussis J, Renshaw K, Rickaby J, Roberts W, Roeder K, Roge B, Rutter ML, Bierut LJ, Rice JP, Salt J, Sansom K, Sato D, Segurado R, Senman L, Shah N, Sheffield VC, Soorya L, Sousa I, Stoppioni V, Strawbridge C, Tancredi R, Tansey K, Thiruvahindrapduram B, Thompson AP, Thomson S, Tryfon A, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Wallace S, Wang K, Wang Z, Wassink TH, Wing K, Wittemeyer K, Wood S, Yaspan BL, Zurawiecki D, Zwaigenbaum L, Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Gallagher L, Geschwind DH, Gill M, Haines JL, Miller J, Monaco AP, Nurnberger JI Jr, Paterson AD, Pericak-Vance MA, Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vicente AM, Vieland VJ, Wijsman EM, Devlin B, Ennis S, Hallmayer J: A genome-wide scan for common alleles affecting risk for autism. Hum Mol Genet 19(20): 4072-4082, October 2010 Notes: doi: 10.1093/hmg/ddq307.

     
   

45. Wang K, Li WD, Glessner JT, Grant SF, Hakonarson H, Price RA.: Large copy-number variations are enriched in cases with moderate to extreme obesity. Diabetes 59(10): 2690-2694, October 2010 Notes: doi: 10.2337/db10-0192.

     
   

46. Glessner JT, Bradfield JP, Wang K, Takahashi N, Zhang H, Sleiman PM, Mentch FD, Kim CE, Hou C, Thomas KA, Garris ML, Deliard S, Frackelton EC, Otieno FG, Zhao J, Chiavacci RM, Li M, Buxbaum JD, Berkowitz RI, Hakonarson H, Grant SF: A genome-wide study reveals copy number variants exclusive to childhood obesity cases. Am J Hum Genet 87(5): 661-666, November 2010 Notes: doi: 1016/j.ajhg.2010.09.014.

     
   

47. Horst JA, Wang K, Horst OV, Cunningham ML, Samudrala R: Disease risk of missense mutations using structural inference from predicted function. Curr Protein Pept Sci 11(7): 573-588, November 2010.

     
   

48. St Pourcain B, Wang K, Glessner JT, Golding J, Steer C, Ring SM, Skuse DH, Grant SF, Hakonarson H, Davey Smith G: Association between a high-risk autism locus on 5p14 and social communication spectrum phenotypes in the general population. Am J Psychiatry 167(11): 1364-1372, November 2010 Notes: doi: ;10.1176/appl.ajp.2010.09121789.

     
   

49. Franke A, McGovern DP, Barrett JC, Wang K, Radford-Smith GL, Ahmad T, Lees CW, Balschun T, Lee J, Roberts R, Anderson CA, Bis JC, Bumpstead S, Ellinghaus D, Festen EM, Georges M, Green T, Haritunians T, Jostins L, Latiano A, Mathew CG, Montgomery GW, Prescott NJ, Raychaudhuri S, Rotter JI, Schumm P, Sharma Y, Simms LA, Taylor KD, Whiteman D, Wijmenga C, Baldassano RN, Barclay M, Bayless TM, Brand S, Büning C, Cohen A, Colombel JF, Cottone M, Stronati L, Denson T, De Vos M, D'Inca R, Dubinsky M, Edwards C, Florin T, Franchimont D, Gearry R, Glas J, Van Gossum A, Guthery SL, Halfvarson J, Verspaget HW, Hugot JP, Karban A, Laukens D, Lawrance I, Lemann M, Levine A, Libioulle C, Louis E, Mowat C, Newman W, Panés J, Phillips A, Proctor DD, Regueiro M, Russell R, Rutgeerts P, Sanderson J, Sans M, Seibold F, Steinhart AH, Stokkers PC, Torkvist L, Kullak-Ublick G, Wilson D, Walters T, Targan SR, Brant SR, Rioux JD, D'Amato M, Weersma RK, Kugathasan S, Griffiths AM, Mansfield JC, Vermeire S, Duerr RH, Silverberg MS, Satsangi J, Schreiber S, Cho JH, Annese V, Hakonarson H, Daly MJ, Parkes M: Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. Nat Genet 42(12): 1118-1125, December 2010 Notes: doi: 10.1038/ng.717.

     
   

50. Glessner JT, Wang K, Sleiman PM, Zhang H, Kim CE, Flory JH, Bradfield JP, Imielinski M, Frackelton EC, Qiu H, Mentch F, Grant SF, Hakonarson H.: Duplication of the SLIT3 locus on 5q35.1 predisposes to major depressive disorder. PLoS One 5(12): e15463, December 2010 Notes: doi: 10.1371/journal.pone.0015463.

     
   

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90. Mills JA, Wang K, Paluru P, Ying L, Lu L, Galvao AM, Xu D, Yao Y, Sullivan LM, Mac H, Omari A, Jean JC, Shen S, Gower A, Spira A, Mostoslavsky G, Kotton GN, French DL, Weiss MJ, Gadue P: Clonal genetic and hemoatopoietic heterogeneity among human-induced pluripotent stem cells. Blood 122(12): 2047-2051, September 2013 Notes: doi: 10.1182/blood2013-484444.

     
   

91. Shi L, Chang X, Zhang P, Coba MP, Lu W, Wang K: The functional genetic link of NLGNAX knockdown and neurodevelopment in neural stem cells. Hum Mol Genet 22(18): 3749-3760, September 2013 Notes: doi: 10.1093/hmg/ddt226.

     
   

92. St Pourcain B, Whitehouse AJ, Ang WQ, Warrington NM, Glessner JT, Wang K, Timpson NJ, Evans DM, Kemp JP, Ring SM, McArdle WL, Golding J, Hakonarson H, Pennell CE, Smith GD: Common variation contributes to the genetic architecture of social communication traits. Mol Autism 4(1): 34, September 2013 Notes: doi: 10.1186/2040-2392-4-34.

     
   

93. Chang X, Shi L, Gao F, Russin J, Zeng L, He S, Chen TC, Giannotta SL, Weisenberger DJ, Zada G, Wang K, Mack WJ: Genomic and transcriptome analysis revealing an oncogenic functional module in meningiomas. Neurosurg Focus 35(6): E3, December 2013 Notes: doi: 10.3171/2013.10.FOCUS13326.

     
   

94. Chen GK, Chang X, Curtis C, Wang K: Precise inference of copy number alterations in tumor samples from SNP arrays. Bioinformatics 29(23): 2964-2970, December 2013 Notes: doi: 10.1093/bioinformatics/btt521.

     
   

95. Robinson PN, Kohler S, Oelirich A, Sanger Mouse Genetics Project, Wank K, Mungall CJ, Lewis SE, Washington N, Bauer S, Seelow D, Krawitz P, Gilssen C, Haendel M, Smedley D.: Improved exome prioritization of disease genes through cross-species phenotype comparison. Genome Res 24(2): 340-348, February 2014 Notes: doi: 10.1101/gr.160325.113.

     
   

96. St Pourcain B, Skuse DH, Mandy WP, Wang K, Hadonarson H, Timpson NJ, Evans DM, Kemp JP, Ring SM, McArdle WL, Golding J, Smith GD: Variability in the common genetic architecture of social-communication spectrum phenotypes during childhood and adolescence. Mol Autism 5(1): 18, February 2014 Notes: doi: 10.1186/2040-2392-5-18.

     
   

97. Ling C, Pease M, Shi L, Punj V, Shiroishi MS, Commins D, Weisenberger DJ, Wang K, Zada G.: A pilot genome-scale profiling o fDNA methylation in sporadic pituitary macroadenomas: association with tumor invasion and histopathological subtype. PLoS One 9(4): e96178, April 2014 Notes: doi: 10.1371/journal.pone.0096178.

     
   

98. Wang L, Swierczek SI, Lanikova L, Kim SJ, Hickman K, Walker K, Wang K, Drummond J, Doddapaneni H, Reid JG, Muzny DM, Gibbs RA, Wheeler DA, Prchal JT: The relationship of JAK2(V617F) and acquired UPD at chromosome 9p in polycythemia vera. Leukemia 28(4): 938-941, April 2014 Notes: doi: 0.1038/leu.2014.20.

     
   

99. Jager M, Wang K, Bauer S, Smedley D, Krawitz P, Robinson PN: Jannovar: a java library for exome annotation. Hum Mutat 35(5): 548-555, May 2014 Notes: doi: 10.1002/humu.22531.

     
   

100. Jia H, Guo Y, Zhao W, Wang K.: Long-range PCR in next-generation sequencing: comparison of six enzymes and evaluation on the MiSeq sequencer. Sci Rep 4: 5737, July 2014 Notes: doi: 10.1038/srep05737.

     
   

101. McGrath LM, Yu D, Marshall C, Davis LK, Thiruvahindrapuram B, Li B, Cappi C, Gerber G, Wolf A, Schroeder FA, Osiecki L, O'Dushlain C, Kirby A, Illmann C, Haddad S, Gallagher P, Fagerness JA, Barr CL, Bellodi L, Benarroch F, Bienvenu OJ, Black DW, Bloch MH, Brun RD, Budman CL, Camarena B, Cath DC, Cavallini MC, Chouinard S, Coric V, Cullen B, Delorme R, Denys D, Derks EM, Dion Y, Rosario MC, Eapen V, Evans P, Falkai P, Fernandez ATV, Garrido H, Geller D, Grabe HJ, Grados MA, Greenberg BD, Cross-Tsur V, Grunblatt E, Helman GA, Hammings SM, Harrera LD, Hournie AG, Jankovic J, Kennedy JL, King RA, Kurlan R, Lanzagorta N, Leboyer M, Leckman JF, Lennertz L, Lochner C, Lowe TÒ, Lyon GJ, Macciardi F, Maier W, McCracken JT< McMahon W, Murphy DL, Naaarden AL, Neale BM, Nurmi E, Pakstis AJ, Pato MT< Pato CN, Piacentini J, Pittenger C, POllak Y, Reus VI, Richter MA, Riddle M, Robertson MM, Rosenberg D, Rouleau GA, Ruhmann S, Sampaio AS, Samuels J, Sandor P, Sheppard B, Singer HS, Smit JH, Stain DJ, Tischfield JA, Vallada H, Veenstra-VanderWeele J, Walitza S, Wang Y, Wendland JR< Shugart YY, Miquel EC, Nicolini H, Oostra BA, Moessner R, Wagner M, Ruiz-Linares A, Heutnik P, Nestadt G, Freimer N, Patryshen T, Prosthuma D, Jenike MA, Cox NJ, Hanna GL, Brenani H, Scherer SW, Arnold PD, Stewart SE, Matthews CA, Knowles JA, Cook EH, Pauls DL, Wang K, Scharf JM: Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study. J Am Acad Child Adolesc Psychiatry 53(8): 910-919, August 2014 Notes: doi: 10.1016/j.jac.2014.04.022.

     
   

102. Yilmaz Z, Kaplan AS, Tiwari AK, Levitan RD, Piran S, Bergen AW, Kay WH, Hakonarson H, Wang K, Berrettini WH, Brandt HA, Builik CM, Crawford S, Crow S, Fichter MM, Halmi KA, Johnson CL, Keel PK, Klump KL, Magistretti P, Mitchell JE, Strober M, Thornton LM, Treasure J, Woodside DB, Knight J, Kennedy JL: The role of leptin, melanocortin, and neurotrophin system genes on body weight in anorexia nervosa and bullimia nervosa. J Psychiatr Res 55: 77-86, August 2014 Notes: doi: 10.1016/j.psychires.2014.04.005.

     
   

103. Wei WH, Guo Y, Kindt AS, Merriman TR, Semple CA, Wang k, Haley CS: Abundant local interactions in the 4p16.1 region suggest functional mechanisms underlying SLC2A9 associations with human serum uric acid. Hum Mol Genet 23(19): 5061-5068, October 2014 Notes: doi: 10.1093/hmg/ddu227.

     
   

104. Shi L, Li B, Huang Y, Ling X, Liu T, Lyon GJ, Xu A, Wang K.: "Genotype-first" approaches on a curious case of idiopathic progressive cognitive decline. BMC Med Genomics 7(66), December 2014 Notes: doi: 10.1186/s12920-014-0066-9.

     
   

105. Zhang X, Jia H, Lu Y, Dong C, Hou J, Wang Z, Wang F, Zhong H, Wang L, Wang K.: Exome sequencing on malignant meningiomas identified mutations in neurofibromatosis type (NF2) and meningioma 1 (MNA) genes. Discov Med 18(101): 301-311, December 2014.

     
   

106. Guo Y, Conti DV, Wang K: Enlight: web-based integration of GWAS results with biological annotations. Bioinformatics 31(2): 275-276, January 2015 Notes: doi: 10.1098/bioinformatics/btu639.

     
   

107. Ling C, Wang L, Wang Z, Xu L, Sun L, Yang H, Li WD, Wang K: A pathway-centric survey of somatic mutations in Chinese patients with colorectal cardinomas. PLoS One 10(1): e0116753, January 2015 Notes: doi: 10.1371/journal.pone.0116753.

     
   

108. Dong C, Wei P, Jian X, Gibbs R, Boerwinkle E, Wang K, Liu X: Comparison and integration of deleteriousness prediction methods for nonsynonymous SNVs in whole exome sequencing studies. Hum Mol Genet 24(8): 2125-2137, April 2015 Notes: doi: 10.1093/hmg/ddu733.

     
   

109. 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 analysis. J Med Genet 52(4): 282-288, April 2015 Notes: doi: 10.1136/jmedgenet-2014-102907.

     
   

110. Gao F, Wang K: Ligation-anchored PCR unveils immune repertoire of TCR-beta from whole blood. BMC Biotechnol 15: 39, May 2015 Notes: doi: 10.1186/s12896-015-0153-9.

     
   

111. Wilkinson B, Grepo N, Thompson BL, Kim J, Wang K, Evgrafov OV, Lu W, Knowles JA, Campbell DB: The autism-associated gene chromodomain helicase DNA-binding protein 8 (CHD8) regulates noncoding RNAs and autism-related genes. Transl Psychiatry 5: e568, May 2015 Notes: doi: 10.1038/tp.2015.62.

     
   

112. Lee NS, Evgrafov OV, souaiaia T, Bonyad A, Herstein J, Lee JY, Kim J, Ning Y, Sixto M, Weitz AC, Lenz HF, Wang K, Knowles JA, Press MF, Salvaterra PM< Shung KK, Chow RH: Non-coding RNAs derived from an alternatively spliced REST transcript (REST-003) regulate breast cancer invasiveness. Sci Rep 5: 11207, June 2015 Notes: doi: 10.1038/srep11207.

     
   

113. Nead KT, Li A, Wehner MR, Neupane B, Gustafsson S, Butterworth A, Engert JC, Davis AD, Hegele RA, Miller R, den Hoed M, Khaw KT, Kipelainen TO, Wareham N, Edwards TL, Hallmans G, Varga TV, Kardia SL, Smith JA, Zhao W, Faul JD, Weir D, Mi J, Xi B, Quinteros SC, Cooper C, Sayer AA, Jameson K, Grontved A, Fornage M, Sidney S, Hanis CL, Highland HM, Haring HU, Heni M, Lasky-Su J, Weiss ST, Gerhard GS, Still C, Melka MM< Pausova Z, Paus T, Grant SF, Hakonarson H, Price RA, Wang K, Scherag A, Hebebrand J, Hinney A, BioBank Japan, AGEN-BMT, GIANT Consortium, Franks PW, Frayling TM, McCarthy MI, Hirschhorn JN, Loos RJ, Ingelsson E, Gerstein HC, Yusuf S, Beyene J, Anand SS, Meyre D: Contribution of common non-synonymous variants in PCSK1 to body mass index variation and risk of obesity: a systemic review and meta-analysis with evidence from up to 331 175 individuals. Hum Mol Genet 24(12): 3582-3594, June 2015 Notes: doi: 10.1093/hmg/ddv097.

     
   

114. St. Pourcain B, Haworth CM, Davis OS, Wang K, Timpson NJ, Evans DM, Kemp JP, Ronald A, Price T, Meaburn E, Ring SM, Golding J, Hakonarson H, Plomin R, Davey Smith G.: Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence. Hum Genet 134(6): 539-5551, June 2015 Notes: doi: 10.1007/s00439-014-1514-5.

     
   

115. Jiao H, Wang K, Yang F, Grant SF, Hakonarson H, Price RA, Li WD: Pathway-based-genome-wide association studies for plasma triglycerides in obese females and normal-weight controls. PLoS One 10(8): e0134923, August 2015 Notes: doi: 10.1371/journal.pone.0134923.

     
   

116. Li WD, Jiao H, Wang K, Yang F, Grant SF, Hakonarson H, Ahima R, Arlen PR: Pathway-based genome-wide association studies reveal that the Rac1 pathway is associated with plasma adiponectin levels. Sci Rep 5: 13422, August 2015 Notes: doi: 10.1038/srep13422.

     
   

117. Guo Y, Ding X, Shen Y, Lyon GJ, Wang K: SeqMule: automated pipeline for analysis of human exome/genome sequencing data. Sci Rep 5: 14283, September 2015 Notes: doi: 10.1038/srep14283.

     
   

118. Yang H, Robinson PN, Wang K.: Phenolyzer: phenotype-based prioritization of candidate genes for human diseases. Nat Methods 12(9): 841-843, September 2015 Notes: doi: 10.1038/nmeth.3484.

     
   

119. Yang H. and Wang K.: Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR. Nat Protoc 10(10): 1556-1566, October 2015 Notes: doi: 10.1038/nprot.2015.105.

     
   

120. PsychENCODE Consortium, Akbarian S, Liu C, Knowles JA< Vaccarino FM, Farnham PJ, Crawford GE, Jaffe AE, Pinto D, Dracheva S, Geschwind DH, Mill J, Naim AC, Abyzov A, Porchareddy S, Prabhaker S, Weissman S, Sullivan PF, State MW, Weng Z, Peters MA, White, KP, Gerstein MB, Amiri A, Armoskus C, Ashley-Koch AE, Bae T, Beckel-Mitchener A, Berman BP, Coetzee GA, Coppola G, Francoeur N, Fromer M, Gao R, Grennan K, Herstein J, Kavanagh DH, Ivanov NA, Jiang Y, Kitchen RR, Kozlenkov A, Kundakovic M, Li M, Li Z, Luu S, Mangravite LM< Mattei E, Markenscoff-Papadimitriou E, Navarro FC, North N, Omberg L, Panchision D, Parikshak N, Poschmann J, Price AJ, Purcaro M, Reddy TE, Roussos P, Schreiner S, Scuderi S, Sebra R, Shibata M, Shief AW, Skarica M, Sun W, Swarup V, Thomas A, Tsuji J, vanBakel H, Wang D, Wang Y, Wang K, Werling DM, Willsey AJ, Witt H, Won H, Woing CC, Wray GA, Wu EY, Xu Y, Yao L, Senthil G, Lehner T, Sklar P, Sestan N.: The PsychENCODE Project. Nat Neurosci 18(12): 1707-1702, December 2015 Notes: doi: 10.1038/nn.4156.

     
   

121. Wang H, Ma Z, Nu K, Xiao Y, Wu X, Pan C, Zhao Y, Wang K, Zhang Y, Liu N: Antagonistic roles of Nibbler and Hen1 in modulating piRNA3' endsin Drosophilia. Development 143(3): 530-539, February 2016 Notes: doi: 10.1242/dev.128116.

     
   

122. Cai M, Kim S, Wang K, Farnham PJ, Coetzee GA, Lu W: 4C-seq revealed long-range interactions of a functional enhancer at the 8q24 prostate cancer risk locus. Sci Rep 6: 22462, March 2016 Notes: doi: 10.1038/srep22462.

     
   

123. Finkel TH, Li J, Wei Z, Wang W, Zhang H, Behrens EM, Reuschel EL, Limou S, Wise C, Punaro M, Becker ML, Munro JE, Flato B, Forre O, Thompson SD, Langefeld CD, Glass DN, Glessner JT, Kim CE, Frackelton E, Shivers DK , Thomas KA, Chiavacci RM, Hou C, Xu K, Snyder J, Qu H, Mentch F, Wang K, Winkler CA, Lie BA, Ellis JA, Hakonarson H: Variants in CXCR4 associate with juvenile idiopathic arthritis susceptibility. BMC Med Genet 17: 24, March 2016 Notes: doi: 10.1186/s12881-016-0285-3.

     
   

124. Ding XL, Yang X, Wang K: Isoform switching and exon skipping induced by the DNA methylation inhibitor 5-Aza-2"-deoxycytidine. Sci Rep 6: 24545, April 2016 Notes: doi: 10.1038/srep24545.

     
   

125. Kim YJ, Ibrahim LA, Wang SZ, Yuan W, Evgrafov OV, Knowles, JA, Wang K, Tao HW, Zhang LI: EphA7 regulates spiral ganglion innervation of cochlear hair cells. Dev Neurobiol 76(4): 452-469, April 2016 Notes: doi: 10.1002/dneu.22326.

     
   

126. Song X, Zhang N, Han P, Moon BS, Lai RK, Wang K, Lu W: Circular RNA profile in gliomas revealed by identification tool UROBORUS. Nucleic Acids Res 44(9): e87, May 2016 Notes: doi: 10.1093/nar/gkw075.

     
   

127. Shi L, Yuo Y, Dong C, Huddleston J, Yang H, Han X, Fu A, Li Q, Lin N, Gong S, Lintner KE, Ding Q, Wang Z, Hu J, Wang D, Wang F, Wang L, Lyon GL, Guan Y, Shen Y, Evgrafov OV, Knolwles JA, Thibaud-Nissen F, Schneider V, Yu CY, Zou L, Eichler EE, So KF, Wang K: Long-read sequencing and de novo assembly of a Chinese genome. Nat Commun 7: 12065, June 2016 Notes: doi: 10.1038/ncomms12065.

     
   

128. Ye Z, Tafti AP, He KY, Wang K, He MM: SparkText: Biomedical text mining on big data framework. PLoS One 11(9): e016721, September 2016 Notes: doi: 10.1371/journal.pone.0162721.

     
   

129. Qi H, Dong C, Chung, WK, Wang K, Shen Y: Deep genetic connection between cancer and developmental disorders. Hum Mutat 37(10): 1042-1050, October 2016 Notes: doi: 10.1002/humu.23040.

     
   

130. Zhao J, Song X, Wang K: IncScore: alignment-free identification of long noncoding RNA from assembled novel transcripts. Sci Rep 6: 34838, October 2016 Notes: doi: 10.1038/srep34838.

     
   

131. Cai M, Gao F, Wang K: w4CSeq: software and web application to analyze 4C-seq data. Bioinformatics 32(21): 3333-3335, November 2016 Notes: DOI: 10.1093/bioinformatics/btw408.

     
   

132. Dueck HR, Ai R, Camarena A, Ding B, Domnquez R, Evgrafov OV, Fan JB, Fisher SA, Herstein JS, Kim TK, Kim MY, Liu R, Mack WJ, McGroty S, Nguyen JD, Salthia N, Shallcross J, Souaiaia T, Spaethling JM, Walker CP, Wang J, Wang K, Wang W, Wildberg A, Zheng L, Chow RH, Eberwine J, Knowles JA, Zhang K, Kim J.: Assessing characteristics of RNA amplification methods for single cell RNA sequencing. BMC Genomics 17(1): 966, November 2016 Notes: DOI: 10.1186/s12864-016-3300-3.

     
   

133. Kleyner R, Malcolmson J, Tegay D, Ward K, Maughan G, Nelson L, Wang K, Robison R, Lyon GJ: KBG syndrome involving a single-nucleotide duplication in ANKRD11. Cold Sprin Harb Mol Case Stud 2(6), November 2016 Notes: DOI: 10.1101/mcs.a001131.

     
   

134. Malcolmson J, Kleyner R, Tegay D, Adams W, Ward K, Coppinger J, Nelson L, Meisler MH, Wang K, Robison R, Lyon GJ: SCN8A mutation in a child presenting with seizures and developmental delays. Cold Spring Harb Mol Case Stud 2(6), November 2016 Notes: doi: 10.1101/mcs.a001073.

     
   

135. Dong C, Guo Y, Yang H, He Z, Liu X, Wang K: iCAGES: integrated CAncer GEnome score for comprehensively prioritizing driver genes in personal cancer genomes. Genome Med 8(1): 135, December 2016 Notes: doi:10.1186/s13073-01-0390-0.

     
   

136. 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 records. PLoS One 11(12): e0167847, December 2016 Notes: doi: 10.1371/journal.pone.0167847.

     
   

137. Fang H, Wu Y, Yang H, Yoon M, Jimenez-Barron LT, Mittelman D, Robinson R, Wang K, Lyon GJ: Whole genome sequencing of one complex pedigree illustrates challenges with genomic medicine. BMC Med Genomics 10(1): 10, Feb 2017 Notes: doi: 10.1186/s12920-017-0246-5.

     
   

138. Li Q, Wang K: InterVar: Clinical interpretation of genetic variants by the 2015 ACMG-AMP guidelines. Am J Hum Genet 100(2): 267-280, Feb 2017.

     
   

139. Kim S-y, Kelland EE, Kim Jh, Lund BT, Chang X, Wang K, Weiner LP: The influence of retinoic acid on the human oligodendrocyte precursor cells by RNA-sequencing. Biochemistry and Biophysics Reports 9: 166-172, March 2017 Notes: https://doi.org/10.1016j.bbrep,2016.12.004.

     
   

140. Li Q, Zhang P, Wang D, Gu W, Wang K.: Interrogating the "unsequenceable" genomic trinucleotide repeat disorders by long-read sequencing. Genome Med 9(1): 65, Jul 2017 Notes: doi: 10.1186/s13073-017-0456-7.

     
   

141. Li J, Zhang W, Yang H, Howrigan DP, Wilkinson B, Souaiaia T, Evgrafov OV, Genovese G, Clementel VA, Tudor JC, Abel T, Knowles JA, Neale BM, Wang K, Sun F, Coba MP: Spatiotemporal profile of postsynaptic interactomes integrates components of complex brain disorders. Nat Neurosci 20(8): 1150-1161, Aug 2017 Notes: doi:10.1038/nn.4594 (published online 26 June 2017).

     
   

142. Lima LA, Wang K: PennCNV in whole-genome sequencing data. BMC Genomics 18(Suppl 11): 383, Oct 2017 Notes: doi: 10.1186a/s12859-017-1802-x.

     
   

143. Doostparast Torshizi Abolfazl, Wang Kai: Deconvolution of Transcriptional Networks in Post-Traumatic Stress Disorder Uncovers Master Regulators Driving Innate Immune System Function. Sci Rep 7(1): 14486, Nov 2017.

     
   

144. Khan A, Wang K: A deep learning based scoring system for prioritizing susceptibility variants for mental disorders. IEEE International Conference on Bioinformatics and Biomedicine. IEEE, Page: 1698-1705, December 2017 Notes: DOI: 10.1109/BIBM.2017.8217916.

     
   

145. Chen Y, Millstein J, Liu Y, Chen GY, Chen X, Stucky A, Qu C, Fan JB, Chang X, Soleimany A, Wang K, Zhong J, Liu J, Gilliland FD, Li Z, Zhang X, Zhong JF: Single-Cell Digital Lysates Generated by Phase-Switch Microfluidic Device Reveal Transcriptome Perturbation of Cell Cycle. ACS Nano 2018 Notes: DOI: 10.1021/acsnano.8b01272.

     
   

146. Fang L, Hu J, Wang D, Wang K: NextSV: a computational pipeline for structural variation analysis from low-coverage long-read sequencing. BMC Bioinformatics 2018 Notes: in press.

     
   

147. Gao F, Kim JM, Kim J, Lin MY, Liu CY, Russin JJ, Dominguez R, Walker C, Camarena A, Nguyen J, Herstein J, Mack W, Evgrafov O, Chow R, Knowles JA, Wang K: Evaluation of biological and technical variations in low-input RNA-Seq and single-cell RNA-Seq. International Journal of Computational Biology and Drug Design 11: 5-22, 2018 Notes: DOI: 10.1504/IJCBDD.2018.10011905.

     
   

148. Hoon Son J, Xie G, Yuan C, Ena L, Li Z, Goldstein A, Huang L, Wang L, Shen F, Liu H, Mehl K, Groopman EE, Marasa M, Kiryluk K, Gharavi AG, Chung WK, Hripcsak G, Friedman C, Weng C*, Wang K*: Deep phenotyping on electronic health records facilitates genetic diagnosis by clinical exomes. Am J Hum Genet 2018 Notes: in press.

     
   

149. Khan A, Liu Q, Wang K: iMEGES: integrated Mental-disorder GEnome score for prioritizing the susceptibility genes for mental disorders in personal genomes. BMC Bioinformatics 2018 Notes: in press.

     
   

150. Liu Q, Georgieva DC, Egli DM, Wang K: NanoMod: a computational tool to detect DNA modifications using Nanopore long-read sequencing data. BMC Genomics 2018 Notes: in press.

     
 

Research Publications, peer-reviewed reviews:

   

1. Wang K, Hakonarson H: Analysing biological pathways in genome-wide association studies. Nat Rev Genet 11(12): 843-854, December 2010 Notes: doi: 10.1038/nrg2884.

     
   

2. Pham MH, Zada G, Mosich GM, Chen TC, Giannotta SL, Wang K, Mack WJ.: Molecular genetics of meningiomas: a systematic review of the current literature and potential basis for future treatment paradigms. Neurosurg Focus 30(5): E7, May 2011 Notes: doi: 10.3171/2011.2.FOCUS.1117.

     
   

3. Lyon GJ, Wang K: Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress. Genome Med 4(7): 58, July 2012 Notes: doi: 10.1186/gm359.

     
   

4. He S, Pham MH, Pese M, Zada G, Giannotta SL, Wang K, Mack WJ: A review of epigenetic and gene expression alterations associated with intracranial meningiomas. Neurosurg Focus 35(6): E5, December 2013 Notes: doi: 10.3171/2013.10FOCUS13360.

     
   

5. Pease M, Ling C, Mack WJ, Wang K, Zada G: The role of epigenetic modification in tumorigenesis and progression of pituitary adenomas: a systemic review of the literature. PLoS One 8(12): e82619, December 2013 Notes: doi: 10.1371/journal.pone.0082619.

     
   

6. Doostparast Torshizi A, Wang K: Next Generation Sequencing in Drug Development: Target Identification and Genetically Stratified Clinical Trials. Drug Discovery Today 2018 Notes: doi: 10.1016/j.drudis.2018.05.015.

     
 

Contributions to peer-reviewed research publications, participation cited but not by authorship:

   

[none]

     
 

Research Publications, non-peer reviewed:

   

1. Yang H, Chen G, Lima L, Fang H, Jimenez L, Li M, Lyon GJ, He M, Wang K: HadoopCNV: A dynamic programming imputation algorithm to detect copy number variants from sequencing data. bioRxiv. Cold Sping Harbor Laboratory, April 2017 Notes: doi: https://doi.org/10.1101/124339 (preprint).

     
   

2. Doostparast Torshizi A, Armoskus C, Zhang S, Zhang H, Evgrafov OV, Duan J, Knowles JA, Wang K: Deconvolution of Transcriptional Networks Identified TCF4 as a Master Regulator in Schizophrenia. bioRxiv. Cold Spring Harbor Laboratory, May 2017 Notes: doi:https://doi.org/10.1101/133363 (preprint).

     
   

3. Evgrafov OV, Armoskus C, Wrobel BB, Spitsyna VN, Souaiaia T, Herstein JS, Walker CP, Nguyen JD, Camarena A, Weitz JR, Kim JM, Duarte EL, Wang K, Simpson GM, Sobell JL, Medeiros H, Pato MT, Pato CN, Knowles JA: Gene expression in patient-derived neural progenitors provide insights into neurodevelopmental aspects of schizophrenia. BioRxiv. Cold Spring Harbor Laboratory, 2017 Notes: doi: https://doi.org/10.1101/209197 (preprint).

     
   

4. Dai Y, Li P, Wang Z, Liang F, Yang F, Fang L, Huang Y, Huang S, Zhou J, Wang D, Cui L, Wang K: Single-molecule optical mapping enables accurate molecular diagnosis of facioscapulohumeral muscular dystrophy (FSHD). BioRxiv March 2018 Notes: doi: https://doi.org/10.1101/286104 (preprint).

     
   

5. Doostparast Torshizi A, Duan J, Wang K: Transcriptional Network Analysis on Brains Reveals a Potential Regulatory Role of PPP1R3F in Autism Spectrum Disorders. BioRxiv May 2018 Notes: doi: https://doi.org/10.1101/330449 (preprint).

     
   

6. Miao H, Zhou J, Yang Q, Liang F, Wang D, Ma N, Gao B, Du J, Lin G, Wang K*, Zhang Q*: Long-read sequencing identified a causal structural variant in an exome-negative case and enabled preimplantation genetic diagnosis. BioRxiv May 2018 Notes: doi: https://doi.org/10.1101/326496 (preprint).

     
   

7. Khan A, Liu Q, Chen X, Zeng Y, Stucky A, Sedghizadeh PP, Adelpour D, Zhang X, Wang K*, Zhong JF*: VirTect: a computational method for detecting virus species from RNA-Seq and its application in head and neck squamous cell carcinoma. BioRxiv. Cold Spring Harbor Laboratory, 2018 Notes: doi: https://doi.org/10.1101/272278 (preprint).

     
   

8. Xiao C-L, Zhu S, He M-H, Chen Y, Yu G-L, Chen D, Xie S-Q, Luo F, Liang Z, Gu X-F, Wang K*, Yan G-R*: N6-methyladenine DNA modification in human genome. Mol Cell 2018 Notes: in press.

     
 

Abstracts (Last 3 years):

   

[none]

     
 

Editorials, Reviews, Chapters, including participation in committee reports (print or other media):

   

1. Wang K: Gene-function wiki would let biologists pool worldwide resources (letter to the editor). Nature 439(7076): 534, February 2006.

     
   

2. Wang K, Mittler JE, Samudrala R: Comment on "Evidence for positive epistasis in HIV-1. Science 312(5775): 848, May 2006 Notes: doi: 10.1126/science.1109904.

     
   

3. Wang K.: The other side of staying out of a BIND (letter to the editor). Nat Biotechnol 25(9): 971-972, September   2007.

     
   

4. Guan Y, Wang K: Whole-genome multi-SNP analysis. In: Statistical Bioinformatics. Do, KA, Qin Z, Vannucci M (eds.). Cambridge University Press, Page: 224-243, 2013.

     
   

5. Wang K: Epistasis. In: Encyclopedia of Autism Spectrum Disorders. Volkmar FR (eds.). Springer, Page: 1153-1158, 2013.

     
   

6. Fang L, Wang K: Identification of Copy Number Variants from SNP Arrays Using PennCNV. Methods in Molecular Biology. Derek Bickhart (eds.). Springer, 1833, 2018.

     
   

7. Gu W, Wang K, Wen S, Gong M: Chapter 16. Connecting genotype data with clinical phenotype information. In: Prenatal Genetic Diagnosis (in Chinese), 2nd Edition 2018 Notes: in press.