Evaluating and developing new methodology in linkage and linkage disequilibrium mapping Investigating gene-environment interaction involved in nasopharyngeal carcinoma Searching genetic and environmental modifies affecting subphenotypes in patients with FAP, BRCA1/BRCA2 Discovering new non-BRCA1/BRCA2 genes responsible for familial breast cancer

Genetic Epidemiology, Linkage analysis, linkage disequilibrium, variance components method, genetic modifier, breast cancer, FAP, nasophrengeal carcinoma

Recipient of Special Training Grant at IARC, 1996-1997. NIH Director's award, 2000

Selected from 48

1. Shugart YY, Mundorff J, Kilshaw J, Doheny K, Doan B, Wanyee J, Green E, Drayna D Results of a genome-wide linkage scan for stuttering. J Med Genet 124A:133-135. 2004

2. Sheen VL, Ganesh VS, Topcu M, Sebire G, Bodell A, Hill RS, Grant PE, Shugart YY, Imitola J, Khoury SJ, Guerrini R, Walsh CA. Mutations in ARFGEF2 implicate vesicle trafficking in neural progenitor proliferation and migration in the human cerebral cortex. Nat Genet. 36:69-76. 2004

3. Parikh V, Shugart YY, Doheny KF, Zhang J, Li L, Williams J, Hayden D, Craig B, Capo H, Chamblee D, Chen C, Collins M, Dankner S, Fiergang D, Guyton D, Hunter D, Hutcheon M, Keys M, Morrison N, Munoz M, Parks M, Plotsky D, Protzko E, Repka MX, Sarubbi M, Schnall B, Siatkowski RM, Traboulsi E, Waeltermann J, Nathans J. A strabismus susceptibility locus on chromosome 7p. Proc Natl Acad Sci U S A.100:12283-8. 2003

4. Rajab A, Mochida GH, Hill A, Ganesh V, Bodell A, Riaz A, Grant PE, Shugart YY, Walsh CA. A novel form of pontocerebellar hypoplasia maps to chromosome 7q11-21 Neurology. 60:1664-7. 2003

5. Sheen VL, Topcu M, Berkovic S, Yalnizoglu D, Blatt I, Bodell A, Hill RS, Ganesh VS, Cherry TJ, Shugart YY, Walsh CA. Autosomal recessive form of periventricular heterotopia. Neurology. 60:1108-12. 2003

6. Potash JB, Zandi PP, Willour VL, Lan TH, Huo Y, Avramopoulos D, Shugart YY, MacKinnon DF, Simpson SG, McMahon FJ, DePaulo JR Jr, McInnis MG. Suggestive linkage to chromosomal regions 13q31 and 22q12 in families with psychotic bipolar disorder. Am J Psychiatry. 160:680-6. 2003.

7. Shugart YY, Feng BJ, Collins A. The power and statistical behavior of allele-sharing statistics when applied to models with two disease loci. J Genet. 81:99-103. 2002

8. Feng BJ, Huang W, Shugart YY(co-first), Lee MK, Zhang F, Xia JC, Wang HY, Huang TB, Jian SW, Huang P, Feng QS, Huang LX, Yu XJ, Li D, Chen LZ, Jia WH, Fang Y, Huang HM, Zhu JL, Liu XM, Zhao Y, Liu WQ, Deng MQ, Hu WH, Wu SX, Mo HY, Hong MF, King MC, Chen Z, Zeng YX. Genome-wide scan for familial nasopharyngeal carcinoma reveals evidence of linkage to chromosome 4. Nat Genet. 31:395-9. 2002

9. Staratschek-Jox A, Shugart YY, Strom SS, Nagler A, Taylor GM Genetic susceptibility to Hodgkin's lymphoma and to secondary cancer: Ann Oncol 13 Suppl 1:30-3. 2002.

10. Nathanson KL, Shugart YY, Omaruddin R, Szabo C, Goldgar D, Rebbeck TR, Weber BL CGH-targeted linkage analysis reveals a possible BRCA1 modifier locus on chromosome 5q.Hum Mol Genet 11:1327-32. 2002.

11. Yang Z, Peachey NS, Moshfeghi DM, Thirumalaichary S, Chorich L, Shugart YY, Fan K, Zhang K Mutations in the RPGR gene cause X-linked cone dystrophy. Hum Mol Genet 11:605-11. 2002.

12. Shugart YY, Hemminki K, Vaittinen P, Kingman A. Apparent anticipation and heterogeneous transmission patterns in familial Hodgkin's and non-Hodgkin's lymphoma: report from a study based on Swedish cancer database.Leuk Lymphoma. 2001 Jul;42(3):407-15.

13. Xu MQ, Feldman G, Le Merrer M, Shugart YY, Glaser DL, Urtizberea JA, Fardeau M, Connor JM, Triffitt J, Smith R, Shore EM, Kaplan FS. Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasiaossificans progressiva (FOP).Clin Genet. 2000 Oct;58(4):291-8.

14. Nestadt G, Lan T, Samuels J, Riddle M, Bienvenu OJ 3rd, Liang KY, Hoehn-Saric R, Cullen B, Grados M, Beaty TH, Shugart YY. Complex segregation analysis provides compelling evidence for a major gene underlying obsessive-compulsive disorder and for heterogeneity by sex. Am J Hum Genet. 2000 Dec;67(6):1611-6. 15. Kniazeva M, Traboulsi EI, Yu Z, Stefko ST, Gorin MB, Shugart YY, O'Connell JR,Blaschak CJ, Cutting G, Han M, Zhang K. A new locus for dominant drusen and macular degeneration maps to chromosome 6q14. Am J Ophthalmol. 2000 Aug;130(2):197-202.

16. Hong SE, Shugart YY, Huang DT, Shahwan SA, Grant PE, Hourihane JO, MartinND, Walsh CA. Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with human RELN mutations.Nat Genet. 2000 Sep;26(1):93-6.

17. Rahman N, Teare MD, Seal S, Renard H, Mangion J, Cour C, Thompson D, Shugart Y, Eccles D, Devilee P, Meijers H, Nathanson KL, Neuhausen SL, Weber B, Chang-Claude J,Easton DF, Goldgar D, Stratton MR. Absence of evidence for a familial breast cancer susceptibility gene at chromosome 8p12-p22. Oncogene. 2000 Aug 24;19(36):4170-3. 18. Shugart YY, Hemminki K, Vaittinen P, Kingman A, Dong C. A genetic study of Hodgkin's lymphoma: an estimate of heritability and anticipation based on the familial cancer database in Sweden. Hum Genet. 2000 May;106(5):553-6. 19. Shugart YY, Collins A. Combined segregation and linkage analysis of 59 Hodgkin's disease families indicates the role of HLA determinants. Eur J Hum Genet. 2000 Jun;8(6):460-3. 9: Shugart YY, Wehman P, Collins A. An evaluation of affected-sib-pair methods and transmission/disequilibrium tests for detecting genes underlying a complex trait. Genet Epidemiol. 1999;17 Suppl 1:S727-30. 20. Fann CS, Shugart YY, Lachman H, Collins A, Chang CJ. The impact of redefining affection status for alcoholism on affected-sib-pair analysis.Genet Epidemiol. 1999;17 Suppl 1:S151-6. 21. Shugart YY, Cour C, Renard H, Lenoir G, Goldgar D, Teare D, Easton D, Rahman N, Gusterton R, Seal S, Barfoot R, Stratton M, Mangion J, Peelen T, van de Ouweland A, Meijers H, Devilee P, Eccles D, Lynch H, Weber B, Stoppa-Lyonnet D, Bignon YJ, Chang-Claude J. Linkage analysis of 56 multiplex families excludes the Cowden disease gene PTEN as a major contributor to familial breast cancer. J Med Genet. 1999 Sep;36(9):720-1.

22. Shugart YY, Goldgar DE. Multipoint genomic scanning for quantitative loci: effects of map density, sibship size and computational approach. Eur J Hum Genet. 1999 Feb-Mar;7(2):103-9. 23. Shugart YY. Anticipation in familial Hodgkin lymphoma. Am J Hum Genet. 1998 Jul;63(1):270-2.

24. Banerjee P, Lewis CA, Kleyn PW, Shugart YY, Ross BM,Penchaszadeh GK, Ott J, Jacobson SG, Gilliam TC, Knowles JA. Homozygosity and physical mapping of the autosomal recessive retinitis pigmentosa locus (RP14) on chromosome 6p21.3. Genomics. 1998 Mar 1;48(2):171-7.

25. Shugart YY, Goldgar DE The performance of MIM in comparison with MAPMAKER/SIBS to detect QTLs. Genet Epidemiol. 1997;14(6):897-902. 26. Serova OM, Mazoyer S, Puget N, Dubois V, Tonin P, Shugart YY, Goldgar D, Narod SA, Lynch HT, Lenoir GM.Mutations in BRCA1 and BRCA2 in breast cancer families: are there more breast cancer-susceptibility genes? Am J Hum Genet. 1997 Mar;60(3):486-95. 27. Goliath R, Shugart Y, Janssens P, Weissenbach J, Beighton P, Ramasar R,Greenberg J. Fine localization of the locus for autosomal dominant retinitis pigmentosa on chromosome 17p. Am J Hum Genet. 1995 Oct;57(4):962-4.

28: Shugart YY, Banerjee P, Knowles JA, Lewis CA, Jacobson SG, Matise TC,Penchaszadeh G, Gilliam TC, Ott J. Fine genetic mapping of a gene for autosomal recessive retinitis pigmentosa on chromosome 6p21. Am J Hum Genet. 1995 Aug;57(2):499-502.