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.

     
   

51. Lanktree MB,   Guo Y, Murtaza M, Glessner JT, Bailey SD, Onland-Moret NC, Lettre G, Ongen H,   Rajagopalan R, Johnson T, Shen H, Nelson CP, Klopp N, Baumert J, Padmanabhan   S, Pankratz N, Pankow JS, Shah S, Taylor K, Barnard J, Peters BJ, Maloney CM,   Lobmeyer MT, Stanton A, Zafarmand MH, Romaine SP, Mehta A, van Iperen EP,   Gong Y, Price TS, Smith EN, Kim CE, Li YR, Asselbergs FW, Atwood LD, Bailey   KM, Bhatt D, Bauer F, Behr ER, Bhangale T, Boer JM, Boehm BO, Bradfield JP,   Brown M, Braund PS, Burton PR, Carty C, Chandrupatla HR, Chen W, Connell J,   Dalgeorgou C, Boer Ad, Drenos F, Elbers CC, Fang JC, Fox CS, Frackelton EC,   Fuchs B, Furlong CE, Gibson Q, Gieger C, Goel A, Grobbee DE, Hastie C, Howard   PJ, Huang GH, Johnson WC, Li Q, Kleber ME, Klein BE, Klein R, Kooperberg C,   Ky B, Lacroix A, Lanken P, Lathrop M, Li M, Marshall V, Melander O, Mentch   FD, Meyer NJ, Monda KL, Montpetit A, Murugesan G, Nakayama K, Nondahl D,   Onipinla A, Rafelt S, Newhouse SJ, Otieno FG, Patel SR, Putt ME, Rodriguez S,   Safa RN, Sawyer DB, Schreiner PJ, Simpson C, Sivapalaratnam S, Srinivasan SR,   Suver C, Swergold G, Sweitzer NK, Thomas KA, Thorand B, Timpson NJ,   Tischfield S, Tobin M, Tomaszewski M, Verschuren WM, Wallace C, Winkelmann B,   Zhang H, Zheng D, Zhang L, Zmuda JM, Clarke R, Balmforth AJ, Danesh J, Day   IN, Schork NJ, de Bakker PI, Delles C, Duggan D, Hingorani AD, Hirschhorn JN,   Hofker MH, Humphries SE, Kivimaki M, Lawlor DA, Kottke-Marchant K, Mega JL,   Mitchell BD, Morrow DA, Palmen J, Redline S, Shields DC, Shuldiner AR,   Sleiman PM, Smith GD, Farrall M, Jamshidi Y, Christiani DC, Casas JP, Hall   AS, Doevendans PA, Christie JD, Berenson GS, Murray SS, Illig T, Dorn GW 2nd,   Cappola TP, Boerwinkle E, Sever P, Rader DJ, Reilly MP, Caulfield M, Talmud   PJ, Topol E, Engert JC, Wang K, Dominiczak A, Hamsten A, Curtis SP,   Silverstein RL, Lange LA, Sabatine MS, Trip M, Saleheen D, Peden JF,   Cruickshanks KJ, März W, O'Connell JR, Klungel OH, Wijmenga   C, Maitland-van der Zee AH, Schadt EE, Johnson JA, Jarvik GP, Papanicolaou   GJ; Hugh Watkins on behalf of PROCARDIS, Grant SF, Munroe PB, North KE,   Samani NJ, Koenig W, Gaunt TR, Anand SS, van der Schouw YT; Meena Kumari on   behalf of the Whitehall II Study and the WHII 50K Group, Soranzo N,   Fitzgerald GA, Reiner A, Hegele RA, Hakonarson H, Keating BJ: Meta-analysis   of Dense Genecentric Association Studies Reveals Common and Uncommon Variants   Associated with Height. Am J Hum Genet. doi: 10.1016/j.ajhg (eds.).   88(1): 6-18, January 2011.

     
   

52. Wang K,   Diskin SJ, Zhang H, Attiyeh EF, Winter C, Hou C, Schnepp RW, Diamond M, Bosse   K, Mayes PA, Glessner J, Kim C, Frackelton E, Garris M, Wang Q, Glaberson W,   Chiavacci R, Nguyen L, Jagannathan J, Saeki N, Sasaki H, Grant SF, Iolascon   A, Mosse YP, Cole KA, Li H, Devoto M, McGrady PW, London WB, Capasso M,   Rahman N, Hakonarson H, Maris JM: Integrative genomics identifies LMO1 as a   neuroblastoma oncogene. Nature 469(7329): 216-220, January 2011 Notes:   doi: 10.1038/nature09609.

     
   

53. Hou Y, Liu   GE, Bickhart DM, Cardone MF, Wang K, Kim ES, Matukumalli LK, Ventura M, Song   J, VanRaden PM, Sonstegard TS, Van Tassell CP: Genomic characteristics of   cattle copy number variations. BMC Genomics 12: 127, February 2011   Notes: doi: 10.1186/1471-2164-12-127.

     
   

54. Levinson DF,   Duan J, Oh S, Wang K, Sanders AR, Shi J, Zhang N, Mowry BJ, Olincy A, Amin F,   Cloninger CR, Silverman JM, Buccola NG, Byerley WF, Black DW, Kendler KS,   Freedman R, Dudbridge F, Pe'er I, Hakonarson H, Bergen SE, Fanous AH, Holmans   PA, Gejman PV: Copy number variants in schizophrenia: confirmation of five   previous findings and new evidence for 3q29 microdeletions and VIPR2   duplications. Am J Pyschiatry 168(3): 302-316, March 2011 Notes: doi:   10.1176/appl.ajp.2010.10060876.

     
   

55. Nguyen le B,   Diskin SJ, Capasso M, Wang K, Diamond MA, Glessner J, Kim C, Attiyeh EF,   Mosse YP, Cole K, Iolascon A, Devoto M, Hakonarson H, Li HK, Maris JM:   Phenotype restricted genome-wide association study using a gene-centric   approach identifies three low-risk neuroblastoma susceptibility Loci. PLoS   Genet 7(3): e1002026, March 2011 Notes: doi:   10.1371/journal.pgen.1002026.

     
   

56. Wang K, Li   WD, Zhang CK, Wang Z, Glessner JT, Grant SF, Zhao H, Hakonarson H, Price RA:   A genome-wide association study on obesity and obesity-related traits. PLoS   One 6(4): e18939, April 2011 Notes: doi: 10.1371/journal.pone.0018939.

     
   

57. Chikkagoudar   S, Wang K, Li M: GENIE: a software package for gene-gene interaction analysis   in genetic association studies using multiple GPU or CPU cores. BMC Res   Notes 4: 158, May 2011 Notes: doi: 10.1186/1756-0500-4-158.

     
   

58. Roshan U1,   Chikkagoudar S, Wei Z, Wang K, Hakonarson H.: Ranking causal variants and   associated regions in genome-wide association studies by the support vector   machine and random forest. Nucleic Acids Res 39(9): e62, May 2011   Notes: DOI: 10.1983/nar/gkr064.

     
   

59. Zhao J,   Bradfield JP, Li M, Zhang H, Mentch FD, Wang K, Sleiman PM, Kim CE, Glessner   JT, Frackelton EC, Chiavacci RM, Berkowitz RI, Zemel BS, Hakonarson H, Grant   SF: BMD-associated variation at the Osterix locus is correlated with   childhood obesity in females. Obesity 19(6): 1311-1314, June 2011   Notes: doi: 10.1038/oby.2010.324.

     
   

60. Hinch AG,   Tandon A, Patterson N, Song Y, Rohland N, Palmer CD, Chen GK, Wang K, Buxbaum   SG, Akylbekova EL, Aldrich MC, Ambrosone CB, Amos C, Bandera EV, Berndt SI,   Bernstein L, Blot WJ, Bock CH, Boerwinkle E, Cai Q, Caporaso N, Casey G,   Cupples LA, Deming SL, Diver WR, Divers J, Fornage M, Gillanders EM, Glessner   J, Harris CC, Hu JJ, Ingles SA, Isaacs W, John EM, Kao WH, Keating B, Kittles   RA, Kolonel LN, Larkin E, Le Marchand L, McNeill LH, Millikan RC, Murphy A,   Musani S, Neslund-Dudas C, Nyante S, Papanicolaou GJ, Press MF, Psaty BM,   Reiner AP, Rich SS, Rodriguez-Gil JL, Rotter JI, Rybicki BA, Schwartz AG,   Signorello LB, Spitz M, Strom SS, Thun MJ, Tucker MA, Wang Z, Wiencke JK,   Witte JS, Wrensch M, Wu X, Yamamura Y, Zanetti KA, Zheng W, Ziegler RG, Zhu   X, Redline S, Hirschhorn JN, Henderson BE, Taylor HA Jr, Price AL, Hakonarson   H, Chanock SJ, Haiman CA, Wilson JG, Reich D, Myers SR.: The landscape of   recombination in African Americans. Nature 476(7359): 170-175, July   2011 Notes: doi: 10.1038/nature10336.

     
   

61. Lyon GJ,   Jiang T, Van Wijk R, Wang W, Bodily PM, Xing J, Tian L, Robison RJ, Clement   M, Lin Y, Zhang P, Liu Y, Moore B, Glessner JT, Elia J, Reimherr F, van   Solinge WW, Yandell M, Hakonarson H, Wang J, Johnson WE, Wei Z, Wang : Exome   sequencing and unrelated findings in the context of complex disease research:   ethical and clinical implications. Discov Med 12(62): 41-55, July 2011   Notes:

     
   

62. Rope AF,   Wang K, Evjenth R, Xing J, Johnston JJ, Swensen JJ, Johnson WE, Moore B, Huff   CD, Bird LM, Carey JC, Opitz JM, Stevens CA, Jiang T, Schank C, Fain HD,   Robison R, Dalley B, Chin S, South ST, Pysher TJ, Jorde LB, Hakonarson H,   Lillehaug JR, Biesecker LG, Yandell M, Arnesen T, Lyon GJ.: Using VAAST to   identify an X-linked disorder resulting in lethality in male infants due to   N-terminal acetyltransferase deficiency. Am J Hum Genet 89(1): 28-43,   July 2011 Notes: Erratum in: Am J Hum Genet. 2011 Aug   12;89(2):345doi:10.1016/j.ajhg.2011.05.017.

     
   

63. Wang K,   Edmondson AC, Li M, Gao F, Qasim AN, Devaney JM, Burnett MS, Waterworth DM,   Mooser V, Grant SF, Epstein SE, Reilly MP, Hakonarson H, Rader DJ:   Pathway-Wide Association Study Implicates Multiple Sterol Transport and   Metabolism Genes in HDL Cholesterol Regulation. Front Genet 2: 41,   July 2011 Notes: doi: 10.3389/fgene.2011.00041.

     
   

64. Wang K,   Swierczek S, Hickman K, Hakonarson H, Prchal JT.: Convergent mechanisms of   somatic mutations in polycythemia vera. Discov Med 12(62): 25-32, July   2011.

     
   

65.   International Multiple Sclerosis Genetics Consortium; Wellcome Trust Case   Control Consortium 2, Sawcer S, Hellenthal G, Pirinen M, Spencer CC,   Patsopoulos NA, Moutsianas L, Dilthey A, Su Z, Freeman C, Hunt SE, Edkins S,   Gray E, Booth DR, Potter SC, Goris A, Band G, Oturai AB, Strange A, Saarela   J, Bellenguez C, Fontaine B, Gillman M, Hemmer B, Gwilliam R, Zipp F,   Jayakumar A, Martin R, Leslie S, Hawkins S, Giannoulatou E, D'alfonso S,   Blackburn H, Martinelli Boneschi F, Liddle J, Harbo HF, Perez ML, Spurkland   A, Waller MJ, Mycko MP, Ricketts M, Comabella M, Hammond N, Kockum I, McCann   OT, Ban M, Whittaker P, Kemppinen A, Weston P, Hawkins C, Widaa S, Zajicek J,   Dronov S, Robertson N, Bumpstead SJ, Barcellos LF, Ravindrarajah R, Abraham   R, Alfredsson L, Ardlie K, Aubin C, Baker A, Baker K, Baranzini SE,   Bergamaschi L, Bergamaschi R, Bernstein A, Berthele A, Boggild M, Bradfield   JP, Brassat D, Broadley SA, Buck D, Butzkueven H, Capra R, Carroll WM,   Cavalla P, Celius EG, Cepok S, Chiavacci R, Clerget-Darpoux F, Clysters K,   Comi G, Cossburn M, Cournu-Rebeix I, Cox MB, Cozen W, Cree BA, Cross AH, Cusi   D, Daly MJ, Davis E, de Bakker PI, Debouverie M, D'hooghe MB, Dixon K, Dobosi   R, Dubois B, Ellinghaus D, Elovaara I, Esposito F, Fontenille C, Foote S,   Franke A, Galimberti D, Ghezzi A, Glessner J, Gomez R, Gout O, Graham C,   Grant SF, Guerini FR, Hakonarson H, Hall P, Hamsten A, Hartung HP, Heard RN,   Heath S, Hobart J, Hoshi M, Infante-Duarte C, Ingram G, Ingram W, Islam T,   Jagodic M, Kabesch M, Kermode AG, Kilpatrick TJ, Kim C, Klopp N, Koivisto K,   Larsson M, Lathrop M, Lechner-Scott JS, Leone MA, Leppä   V, Liljedahl U, Bomfim IL, Lincoln RR, Link J, Liu J, Lorentzen AR, Lupoli S,   Macciardi F, Mack T, Marriott M, Martinelli V, Mason D, McCauley JL, Mentch   F, Mero IL, Mihalova T, Montalban X, Mottershead J, Myhr KM, Naldi P, Ollier   W, Page A, Palotie A, Pelletier J, Piccio L, Pickersgill T, Piehl F,   Pobywajlo S, Quach HL, Ramsay PP, Reunanen M, Reynolds R, Rioux JD, Rodegher   M, Roesner S, Rubio JP, Rückert IM, Salvetti M, Salvi E,   Santaniello A, Schaefer CA, Schreiber S, Schulze C, Scott RJ, Sellebjerg F,   Selmaj KW, Sexton D, Shen L, Simms-Acuna B, Skidmore S, Sleiman PM, Smestad   C, Sørensen PS, Søndergaard   HB, Stankovich J, Strange RC, Sulonen AM, Sundqvist E, Syvänen   AC, Taddeo F, Taylor B, Blackwell JM, Tienari P, Bramon E, Tourbah A, Brown   MA, Tronczynska E, Casas JP, Tubridy N, Corvin A, Vickery J, Jankowski J,   Villoslada P, Markus HS, Wang K, Mathew CG, Wason J, Palmer CN, Wichmann HE,   Plomin R, Willoughby E, Rautanen A, Winkelmann J, Wittig M, Trembath RC,   Yaouanq J, Viswanathan AC, Zhang H, Wood NW, Zuvich R, Deloukas P, Langford   C, Duncanson A, Oksenberg JR, Pericak-Vance MA, Haines JL, Olsson T, Hillert   J, Ivinson AJ, De Jager PL, Peltonen L, Stewart GJ, Hafler DA, Hauser SL,   McVean G, Donnelly P, Compston A: Genetic risk and a primary role for   cell-mediated immune mechanisms in multiple sclerosis. Nature   476(7359): 214-219, August 2011 Notes: doi: 10.1038/nature10251.

     
   

66. Bradfield   JP, Qu HQ, Wang K, Zhang H, Sleiman PM, Kim CE, Mentch FD, Qiu H, Glessner   JT, Thomas KA, Frackelton EC, Chiavacci RM, Imielinski M, Monos DS, Pandey R,   Bakay M, Grant SF, Polychronakos C, Hakonarson H: A genome-wide meta-analysis   of six type 1 diabetes cohorts identifies multiple associated loc. PLoS   Genet 7(9): e1002293, September 2011 Notes: doi:   10.1371/journal.pgen.1002293.

     
   

67. Wang K,   Zhang H, Bloss CS, Duvvuri V, Kaye W, Schork NJ, Berrettini W, Hakonarson H;   Price Foundation Collaborative Group: A genome-wide association study on   common SNPs and rare CNVs in anorexia nervosa. Mol Psychiatry 16(9):   949-959, September 2011 Notes: doi: 10/1038/mp.2010.107.

     
   

68. Chung RH, Ma   D, Wang K, Hedges DJ, Jaworski JM, Gilbert JR, Cuccaro ML, Wright HH,   Abramson RK, Konidari I, Whitehead PL, Schellenberg GD, Hakonarson H, Haines   JL, Pericak-Vance MA, Martin ER.: An X chromosome-wide association study in   autism families identifies TBL1X as a novel autism spectrum disorder   candidate gene in males. Mol Autism 2(1): 18, November 2011 Notes:   doi: 10.1186/2040-2392-2-18.

     
   

69. Elia J,   Glessner JT, Wang K, Takahashi N, Shtir CJ, Hadley D, Sleiman PM, Zhang H,   Kim CE, Robison R, Lyon GJ, Flory JH, Bradfield JP, Imielinski M, Hou C,   Frackelton EC, Chiavacci RM, Sakurai T, Rabin C, Middleton FA, Thomas KA,   Garris M, Mentch F, Freitag CM, Steinhausen HC, Todorov AA, Reif A,   Rothenberger A, Franke B, Mick EO, Roeyers H, Buitelaar J, Lesch KP,   Banaschewski T, Ebstein RP, Mulas F, Oades RD, Sergeant J, Sonuga-Barke E,   Renner TJ, Romanos M, Romanos J, Warnke A, Walitza S, Meyer J, Pálmason   H, Seitz C, Loo SK, Smalley SL, Biederman J, Kent L, Asherson P, Anney RJ,   Gaynor JW, Shaw P, Devoto M, White PS, Grant SF, Buxbaum JD, Rapoport JL,   Williams NM, Nelson SF, Faraone SV, Hakonarson H.: Genome-wide copy number   variation study associates metabotropic glutamate receptor gene networks with   attention deficit hyperactivity disorder. Nat Genet 44(1): 78-84,   December 2011 Notes: doi: 10.1038/ng.1013.

     
   

70. Casey JP,   Magalhaes T, Conroy JM, Regan R, Shah N, Anney R, Shields DC, Abrahams BS,   Almeida J, Bacchelli E, Bailey AJ, Baird G, Battaglia A, Berney T, Bolshakova   N, Bolton PF, Bourgeron T, Brennan S, Cali P, Correia C, Corsello C,   Coutanche M, Dawson G, de Jonge M, Delorme R, Duketis E, Duque F, Estes A,   Farrar P, Fernandez BA, Folstein SE, Foley S, Fombonne E, Freitag CM, Gilbert   J, Gillberg C, Glessner JT, Green J, Guter SJ, Hakonarson H, Holt R, Hughes   G, Hus V, Igliozzi R, Kim C, Klauck SM, Kolevzon A, Lamb JA, Leboyer M, Le   Couteur A, Leventhal BL, Lord C, Lund SC, Maestrini E, Mantoulan C, Marshall   CR, McConachie H, McDougle CJ, McGrath J, McMahon WM, Merikangas A, Miller J,   Minopoli F, Mirza GK, Munson J, Nelson SF, Nygren G, Oliveira G, Pagnamenta   AT, Papanikolaou K, Parr JR, Parrini B, Pickles A, Pinto D, Piven J, Posey   DJ, Poustka A, Poustka F, Ragoussis J, Roge B, Rutter ML, Sequeira AF, Soorya   L, Sousa I, Sykes N, Stoppioni V, Tancredi R, Tauber M, Thompson AP, Thomson   S, Tsiantis J, Van Engeland H, Vincent JB, Volkmar F, Vorstman JA, Wallace S,   Wang K, Wassink TH, White K, Wing K, Wittemeyer K, Yaspan BL, Zwaigenbaum L,   Betancur C, Buxbaum JD, Cantor RM, Cook EH, Coon H, Cuccaro ML, Geschwind DH,   Haines JL, Hallmayer J, Monaco AP, Nurnberger JI Jr, Pericak-Vance MA,   Schellenberg GD, Scherer SW, Sutcliffe JS, Szatmari P, Vieland VJ, Wijsman   EM, Green A, Gill M, Gallagher L, Vicente A, Ennis S.: A novel approach of   homozygous haplotype sharing identifies candidate genes in autism spectrum   disorder. Hum Genet 131(4): 565-579, April 2012 Notes: doi:   10.1007/s00439-011-1994-6.

     
   

71. Wang K,   Zhang H, Mentch FD, Bradfield JP, Glessner JT, Qiu H, Guo Y, Hou C,   Frackelton EC, Thomas K, Bender A, Albano A, Otieno G, Garris M, Seidler K,   Moy A, Kim CE, Keating B, Chiavacci RM, Grundmeier R, Sleiman PA, Grant SF,   Hakonarson H.: Examination of genetic variants influencing lipid traits in   pediatric populations. J Pediatr Genet 1(2): 85-98, June 2012 Notes:   doi: 10.3233/PGE-2012.016.

     
   

72. Chang X, Wang   K.: wANNOVAR: annotating genetic variants for personal genomes via the web. J   Med Genet 49(7): 433-436, July 2012 Notes: doi:   10.1136/jmedgenet-2012-100918.

     
   

73. Qiu S, Luo   S, Evgrafov O, Li R, Schroth GP, Levitt P, Knowles JA, Wang K.: Single-neuron   RNA-Seq: technical feasibility and reproducibility. Front Genet 3:   124, July 2012 Notes: doi: 10.3389/fgene.2017.00124.

     
   

74. Levinson DF,   Shi J, Wang K, Oh S, Riley B, Pulver AE, Wildenauer DB, Laurent C, Mowry BJ,   Gejman PV, Owen MJ, Kendler KS, Nestadt G, Schwab SG, Mallet J, Nertney D,   Sanders AR, Williams NM, Wormley B, Lasseter VK, Albus M, Godard-Bauché   S, Alexander M, Duan J, O'Donovan MC, Walsh D, O'Neill A, Papadimitriou GN,   Dikeos D, Maier W, Lerer B, Campion D, Cohen D, Jay M, Fanous A, Eichhammer   P, Silverman JM, Norton N, Zhang N, Hakonarson H, Gao C, Citri A, Hansen M,   Ripke S; Schizophrenia Psychiatric GWAS Consortium, Dudbridge F, Holmans PA.:   Genome-wide association study of multiplex schizophrenia pedigrees. Am J   Psychiatry 169(9): 963-973, September 2012 Notes: doi:   10.1176/appi.ajp.2012.11091423.

     
   

75. Chen GK,   Wang K, Stram AH, Sobel EM, Lange K.: Mendel-GPU: haplotyping and genotype   imputation on graphics processing units. Bioinformatics 28(22):   2979-2980, November 2012 Notes: doi: 10.1093/bioinformatics/bts536.

     
   

76. Deliard S,   Panossian S, Mentch FD, Kim CE, Hou C, Frackelton EC, Bradfield JP, Glessner   JT, Zhang H, Wang K, Sleiman PM, Chiavacci RM, Berkowitz RI, Hakonarson H,   Zhao J, Grant SF.: The missense variation landscape of FTO, MC4R, and TMEM18   in obese children of African Ancestry. Obesity 21(1): 159-163, January   2013 Notes: doi: ;10.1002/oby.20147.

     
   

77. Gao F, Shi   L, Russin J, Zeng L, Chang X, He S, Chen TC, Giannotta SL, Weisenberger DJ,   Zada G, Mack WJ, Wang K.: DNA methylation in the malignant transformation of   meningiomas. PLoS One 8(1): e54114, January 2013 Notes: doi:   10.1371/journal.pone.0054114.

     
   

78. Nag A,   Bochukova EG, Kremeyer B, Campbell DD, Muller H, Valencia-Duarte AV, Cardona   J, Rivas IC, Mesa SC, Cuartas M, Garcia J, Bedoya G, Cornejo W, Herrera LD,   Romero R, Fournier E, Reus VI, Lowe TL, Farooqi IS; Tourette Syndrome   Association International Consortium for Genetics, Mathews CA, McGrath LM, Yu   D, Cook E, Wang K, Scharf JM, Pauls DL, Freimer NB, Plagnol V, Ruiz-Linares   A.: A CNV analysis in Tourette syndrome implicates large genomic   rearrangements in COL8A1 and NRXN1. PLoS One 8(3): e59061, March 2013   Notes: doi: 10.1371/journal.pone.0059061.

     
   

79. O'Rawe J,   Jiang T, Sun G, Wu Y, Wang W, Hu J, Bodily P, Tian L, Hakonarson H, Johnson   WE, Wei Z, Wang K, Lyon GJ: Low concordance of multiple variant-calling   pipelines: practical implications for exome and genome sequencing. Genome   Med 5(3): 28, March 2013 Notes: doi: 10.1186/gm432.

     
   

80. Zang L,   Zhang P, Shi L, Yamamoto V, Lu W, Wang K: Functional impacts of NRXN1   knockdown on neurodevelopment in stem cell models. PLoS One 8(3),   March 2013 Notes: doi: 10.1371/journal.pone.0059685.

     
   

81. Chang X, Xu   T, Li Y, Wang K: Dynamic modular architecture of protein-protein interaction   networks beyond the dichotomy of 'date' and 'party' hubs. Sci Rep 3:   1691, April 2013 Notes: doi: 10.1038/srep01691.

     
   

82. Gao F, Wei   Z, An W, Wang K, Lu W: The interactomes of POU5F1 and SOX2 enhancers in human   embryonic stem cells. Sci Rep 3: 1588, April 2013 Notes: doi:   1038/srep01588.

     
   

83. Shi L, Zhang   X, Golhar R, Otieno FH, He M, Hou C, Kim C, Keating B, Lyon GJ, Wang K,   Hakonarson H: Whole-genome sequencing in an autism multiplex family. Mol   Autism 4(1): 8, April 2013 Notes: doi: 1186/2040-2392-4-8.

     
   

84. Wang K, Kim   C, Bradfield J, Guo Y, Toskala E, Otieno FH, Hou C, Thomas K, Cardinale C,   Lyon GJ, Golhar R, Hakonarson H: Whole-genome DNA/RNA sequencing identifies   truncating mutatins in RBCK1 in a novel Mendelian disease with neuromuscular   and cardiac involvement. Genome Med 5(7): 67, July 2013 Notes: doi:   10.1186/gm471.

     
   

85. Wu Z, Gao F,   Kim S, Yang H, Lyu J, An W, Wang K, Lu W: Klf4 organizes long-range   chromosomal interactions with the oct4 locus in reprogramming and   pluripotency. Cell Stem Cell 13(1): 36-47, July 2013 Notes: doi:   10.1016/j.stem.2013.05.010.

     
   

86. Gao F, Ling   C, Shi L, Commins D, Zada G, Mack WJ, Wang K: Inversion-mediated gene fusions   involving NAB2-STAT6 in an unusual malignant meningioma. Br J Cancer   109(4): 1051-1055, August 2013 Notes: doi: 10.1038/bjc.2013.395.

     
   

87. Wei Z, Huang   D, Gao F, Chang WH, an W, coetzee GA, Wang K, Lu W: Biological implications   and regulatory mechanisms of long-range chromosomal interactions. J Biol   Chem 288(31): 22369-22377, August 2013 Notes: doi:   10.1074/jbc.R113.485292.

     
   

88. Gao F, Lin   E, Feng Y, Mack WJ, Shen Y, Wang K: Characterizing immunoglobulin repertoire   from whole blood by a personal genome sequencer. PLoS One 8(9):   e75294, September 2013 Notes: doi: 10.1371/journal.pone.0075294.

     
   

89. Li WD, Jiao   H, Wang K, Zhang CK, Glessner JT, Grant SF, Zhao H, Hakonarson H, Arlen Price   R.: A genome wide association study of plasma uric acid levels in obese cases   and never-overweight controls. Obesity 21(9): E490-E494, September   2013 Notes: doi: 10.1002/oby.20303.

     
   

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. O'Rawe JA,   Wu Y, Dörfel MJ, Rope AF, Au PY, Parboosingh JS,   Moon S, Kousi M, Kosma K, Smith CS, Tzetis M, Schuette JL, Hufnagel RB, Prada   CE, Martinez F, Orellana C, Crain J, Caro-Llopis A, Oltra S, Monfort S, Jiménez-Barrón   LT, Swensen J, Ellingwood S, Smith R, Fang H, Ospina S, Stegmann S, Den   Hollander N, Mittelman D, Highnam G, Robison R, Yang E, Faivre L, Roubertie   A, Rivière JB, Monaghan KG, Wang K, Davis EE,   Katsanis N, Kalscheuer VM, Wang EH, Metcalfe K, Kleefstra T, Innes AM,   Kitsiou-Tzeli S, Rosello M, Keegan CE, Lyon GJ: TAF1 Variants Are Associated   with Dysmorphic Features, Intellectual Disability, and Neurological   Manifestations. Am J Hum Genet 97(6): 922-32, Dec 2015.

     
   

121. 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.

     
   

122. 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.

     
   

123. 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.

     
   

124. 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.

     
   

125. 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.

     
   

126. 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.

     
   

127. 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.

     
   

128. 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.

     
   

129. 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.

     
   

130. 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.

     
   

131. 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.

     
   

132. 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.

     
   

133. 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.

     
   

134. 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.

     
   

135. 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.

     
   

136. 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.

     
   

137. 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.

     
   

138. 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.

     
   

139. 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.

     
   

140. 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.

     
   

141. 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.

     
   

142. 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).

     
   

143. de Araújo   Lima L, Wang K: PennCNV in whole-genome sequencing data. BMC   Bioinformatics 18(Suppl 11): 383, Oct 2017 Notes: doi:   10.1186a/s12859-017-1802-x.

     
   

144. 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.

     
   

145. 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.

     
   

146. Doostparast   Torshizi A, Duan J, Wang K: Transcriptional Network Analysis on Brains   Reveals a Potential Regulatory Role of PPP1R3F in Autism Spectrum Disorders. BMC   Res Notes 11(1): 489, July 2018.

     
   

147. 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   103(1): 58-73, July 2018.

     
   

148. Xiao CL,   Zhu S, He M, Chen D, Zhang Q, Chen Y, Yu GL, Liu J, Xie SQ, Luo F, Liang Z,   Wang DP, Bo XC*, Gu X-F*, Wang K*, Yan GR*: N6-methyladenine DNA modification   in human genome. Mol Cell 71(2): 306-318, July 2018 Notes: doi:   10.1016/j.molcel.2018.06.015.

     
   

149. 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.

     
   

150. 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.

     
   

151. 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.

     
   

152. He Z, Liu   L, Wang K, Ionita-Laza I: A semi-supervised approach for predicting cell type   specific functional consequences of non-coding variation. Nature   Communications 2018 Notes: in press.

     
   

153. Khan A, Liu   Q, Wang K: iMEGES: integrated mental-disorder GEnome score by deep neural   network for prioritizing the susceptibility genes for mental disorders in   personal genomes. BMC Bioinformatics 2018 Notes: DOI:   10.1186/s12859-018-2469-7.

     
   

154. 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.

     
   

155. Zeng S,   Zhang MY, Wang XJ, Hu ZM, Li JC, Li N, Wang JL, Liang F, Yang Q, Liu Q, Fang   L, Hao JW, Shi FD, Ding XB, Teng JF, Yin XM, Jiang H, Liao WP, Liu JY, Wang   K#, Xia K#, Tang BS#: Long-read sequencing identified intronic repeat   expansions in SAMD12 from Chinese pedigrees affected with Familial Cortical   Myoclonic Tremor with Epilepsy. J Med Genet in press, 2018.

     
 

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. 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).

     
   

6. Hu L, Liang   F, Cheng D, Zhang Z, Yu G, Zha J, Wang Y, Wang F, Tan Y, Wang D, Wang K*, Lin   G*: Localization of balanced chromosome translocation breakpoints by   long-read sequencing on the Oxford Nanopore platform. Biorxiv 2018   Notes: doi: https://doi.org/10.1101/419531.

     
   

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).

     
 

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, vol. 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.

     
   

8. Wang J, Wang   K, Liu X, Sham P, Zhao Z: Next-generation sequencing in human genetic studies:   Genome technologies and applications to human genetic studies. Human   Heredity 2018.