Research Publications

Primary Research

Sherman S.L., Takaesu N., Freeman S. Phillips C., Blackston R.D., Keats B.J., Jacobs P.A., Cockwell A.E., Kurnit D., Uchida I., Hassold T.J.: Trisomy 21: Association between reduced recombination and non disjunction. Am J Hum Genet 49:608 620, 1991.

Peterson M., Antonarakis S., Hassold T., Freeman S., Sherman S., Mikkelsen M.: Paternal nondisjunction in trisomy 21: An excess of male patients. Hum Molec Genet 2:1691 1695, 1993.

Sherman S.L., Petersen M.B., Freeman S.B., Hersey J., Pettay D., Taft L., Frantzen M., Mikkelsen M., Hassold T.J.: Non disjunction of chromosome 21 in maternal meiosis l: evidence for a maternal-age dependent mechanisms involving reduced recombination. Hum Mol Genet 3:1529 1535, 1994.

Zaragoza M.V., Jacobs P.A., James R.S., Rogan P., Sherman S., Hassold T.: Nondisjunction of human acrocentric chromosomes: studies of 432 fetuses and liveborns. Hum Genet 94:411 417, 1994.

Griffin D., Abruzzo M., Millie E., Sheean L., Feingold E., Sherman S., Hassold T.: Nondisjunction in human sperm: evidence for an effect of increasing paternal age. Hum Molec Genet 4:2227 2232, 1995.

Hassold T., Merrill M., Adkins K., Freeman S., Sherman S.: Recombination and maternal age dependent nondisjunction: molecular studies of trisomy 16. Am J Hum Genet 57:867 874, 1995.

Shen J.J., Williams B.J., Zipursky A., Doyle J., Sherman S.L., Jacobs P.A., Shugar A.L., Hassold T.J.: Cytogenetic and molecular studies of Down syndrome individuals with leukemia. Am J Hum Genet 56:915 925, 1995.

Lamb N.E., Feingold E., Sherman S.L.: Statistical models for trisomic phenotypes. Am J Hum Genet 58:201 212, 1996.

Yoon P., Freeman S., Sherman S., Taft L., Gu Y., Pettay D., Flanders D., Khoury M., Hassold T.: Advanced maternal age and the risk of Down syndrome characterized by the meiotic stage of the chromosomal error: a population based study. Am J Hum Genet 58: 628 633, 1996.

Lamb N.E., Freeman S.B., Savage Austin A., Pettay D., Taft L., Hersey J., Gu Y., Shen J., Saker D., May KM., Avramopoulos D., Petersen M.B., Hallberg A., Mikkelsen M., Hassold T.J., Sherman S.L.: Susceptible chiasmate configurations of chromosome 21 predispose to non disjunction in both maternal meiosis I and meiosis 11. Nature Genetics 14:400-405, 1996.

Lamb N.E., Feingold E., Savage A., Avramopoulos D., Freeman S., Gu Y., Hallberg A., Hersey J., Karadima G., Pettay D., Saker D., Shen J., Taft L., Mikkelsen M., Petersen M.B., Hassold T., Sherman S.L.: Characterization of susceptible chiasma configurations that increase the risk for maternal nondisjunction of chromosome 21. Hum Molec Genet 6:1391-1399, 1997.

Yang Q., Atkinson M., Sun F., Sherman S., Khoury M.J.: The method of sib-pair linkage analysis in the context of case-control design. Genet Epid 14:939-944, 1997.

Savage A., Petersen M., Pettay D., Taft L., Allran K., Freeman S., Karadima G., Avramopolous D., Torfs C., Mikkelsen M., Hassold T.J., Sherman S.L.: Elucidating the mechanisms of paternal nondisjunction of chromosome 21 in humans. Hum Molec Genet 7:1221-1227, 1998.

Shen J., Sherman S., Hassold T.: Centromere genotyping and direct analysis of nondisjunction in humans: Down syndrome. Chromosoma 107:166-172, 1998.

Freeman S.B., Taft L.F., Dooley K.J., Allran K., Sherman S.L., Hassold M.J., Saker D.M.: Population-based study of congenital heart defects in Down syndrome. Am J Med Genet 80:213-217, 1998.

Yang Q., Sherman S.L., Hassold T.J., Allran K., Taft L., Pettay D., Khoury M.J., Erickson J.D., Freeman S.B.: Risk factors for trisomy 21: Maternal cigarette smoking and oral contraceptive use in a population-based case-control study. Genetics in Medicine 1:80-88, 1999.

Feingold E., Brown A.S., Sherman S.L.: Multipoint estimation of genetic maps for human trisomies with one parent or other partial data. Am J Hum Genet 66:958-968, 2000.

Brown A.S., Feingold E., Broman K.W., Sherman S.L.: Genome-wide variation in recombination in female meiosis: a risk factor for non-disjunction of chromosome 21. Hum Molec Genet 9:515-23, 2000.

Hassold T., Sherman S.: Down syndrome: genetic recombination and the origin of the extra chromosome 21. Clin Genet 57:95-100, 2000.

Hassold T., Sherman S., Hunt P.: Counting cross-overs: characterizing meiotic recombination in mammals. Human Molecular Genetics 9:2409-2419, 2000.

Freeman S.B., Yang Q., Allran K., Taft L., Sherman S.L.: Women with a reduced ovarian complement may have an increased risk for a child with Down yndrome. Am J Hum Genet 66:1680-1683, 2000.

Hobbs C.A., Sherman S.L., Yi P., Hopkins S.E., Torfs C.P., Hine R.J., Pogribna, M., Rozen R., James S.J.: Polymorphisms in genes involved in folate metabolism as maternal risk factors for Down syndrome. Am J Hum Genet 67:623-630, 2000.

Li J., Sherman S.L., Lamb N., Zhao H.: Multipoint genetic mapping with trisomy data. Am J Hum Genet, 70:1532-1544, 2001.

Berend S.A., Page S.L., Atkinson W., McKaskill C., Lamb N.E., Sherman S.L., Shaffer L.G.: Obligate Short-Arm Exchange in De Novo Robertsonian Translocation Formation Influences Placement of Crossovers in Chromosome 21 Nondisjunction. Am J Hum Genet, 72:488-495, 2003.

Laurent A.M., Li M., Sherman S., Roizes G., Buard J.: Recombination across the centromere of disjoined and non-disjoined chromosomes 21. Human Molecular Genetics 12:2229-2239, 2003.

Xu Z., Kerstann K.F., Sherman S.L., Chakravarti A., Feingold E.: A Trisomic Transmission Disequilibrium Test. Genet Epid 26:125-131, 2004.

Kerstann KF, Feingold E, Freeman SB, Bean LJ, Pyatt R, Tinker S, Jewel AH, Capone G, Sherman SL.: Linkage disequilibrium mapping in trisomic populations: analytical approaches and an application to congenital heart defects in Down syndrome. Genet Epidemiol. 2004 Nov;27(3):240-51.

Christianson R.E., Sherman S.L., Torfs C.P.: Maternal meiosis II nondisjunction in trisomy 21 is associated with maternal low socioeconomic status. Genetics in Medicine 6:487-494, 2004.

Lamb N.L., Yu K., Shaffer J., Feingold E., Sherman S.L.: An association between maternal age and meiotic recombination for trisomy 21. Am J Hum Genet 76: 91-99, 2005.

Maslen CL, Babcock D, Robinson SW, Bean LJH, Dooley KJ, Willour VL, Sherman S: CRELD1 mutations contribute to the occurrence of cardiac atrioventricular septal defects in Down Syndrome, AJMG 140:2501-2505, 2006.

Freeman SB, Allen EG, Oxford-Wright CL, Tinker SW, Druschel C, Hobbs CA, O'Leary LA, Romitti PA, Royle MH, Torfs CP, Sherman SL.: National Down Syndrome Project: design and implementation. Public Health Reports 22:62-72., 2007.

Freeman SB, Bean LH, Allen EG, Tinker SW, Locke AE, Druschel C, Hobbs CA, Romitti PA, Royle MH, Torfs CP, Dooley KJ, Sherman SL.: Ethnicity, sex, and the incidence of congenital heart defects: a report from the National Down Syndrome Project. Genet Med. 10(3):173-80, Mar. 2008.

Oliver TR, Feingold E, Yu K, Cheung V, Tinker SW, Yadav-Shah M, Masse N, Sherman SL.: New insights into human nondisjunction of chromosome 21 in oocytes. PLoS Genet. 14;4(3):e1000033, Mar. 2008.

Lin Y, Tseng GC, Cheong SY, Bean LJ, Sherman SL, Feingold E.: Smarter clustering methods for SNP genotype calling. Bioinformatics. 2008 Dec 1;24(23):2665-71. Epub 2008 Sep 29.

Duffy KJ, Littrell J, Locke A, Sherman SL, Olivier M.: A novel procedure for genotyping of single nucleotide polymorphisms in trisomy with genomic DNA and the invader assay. Nucleic Acids Res. 2008 Dec;36(22):e145. Epub 2008 Oct 21.

Allen EG, Freeman SB, Druschel C, Hobbs CA, O'Leary LA, Romitti PA, Royle MH, Torfs CP, Sherman SL.: Maternal age and risk for trisomy 21 assessed by the origin of chromosome nondisjunction: a report from the Atlanta and National Down Syndrome Projects. Hum Genet. 2009 Feb;125(1):41-52. Epub 2008 Dec 3.

Freeman SB, Torfs CP, Romitti PA, Royle MH, Druschel C, Hobbs CA, Sherman SL.: Congenital gastrointestinal defects in Down syndrome: a report from the Atlanta and National Down Syndrome Projects. Clin Genet. 2009 Feb;75(2):180-4. Epub 2008 Nov 17.

Oliver TR, Bhise A, Feingold E, Tinker S, Masse N, Sherman SL.: Investigation of factors associated with paternal nondisjunction of chromosome 21. Am J Med Genet A. 2009 Aug;149A(8):1685-90.

Locke AE, Dooley KJ, Tinker SW, Cheong SY, Feingold E, Allen EA, Freeman SB, Torfs CP, Cua CL, Epstein MP, Wu MC, Lin X, Capone GT, Sherman SL, Bean LJH: Variation in Folate Pathway Genes Contributes to Risk of Congenital Heart Defects Among Individuals With Down Syndrome. AGenet Epidemiol. 2010 34:613-623.

Edgin JO, Mason GM, Allman MJ, Capone GT, DeLeon I, Maslen C, Reeves RH, Sherman SL, Nadel L: Development and validation of the Arizona Cognitive Test Battery for Down syndrome. J Neurodev Disord. 2010 September 1; 2(3): 149-164.


Hassold T., Sherman S.: The origin and etiology of Down syndrome. Proceedings of the 2001 National Meeting of the National Down Syndrom Society. Wiley-Liss, New York, NY.

Koehler K.E., Hawley R.S., Sherman S., Hassold H.: Recombination and nondisjunction in humans and files. Hum Molec Genet 5:1495-1504, 1996.

Lamb N.E., Sherman S.L., Hassold T.J.: Effect of meiotic recombination on the production of aneuploid gametes in humans. Cytogenet Genome Res 111:250-255, 2005.

Sherman S.L., Freeman S.B., Allen E.G., Lamb N.E.: Risk factors for nondisjunction of trisomy 21. Cytogenet Genome Res 111:273-280, 2005.

Sherman SL, Allen EG, Bean LH, Freeman SB.: Epidemiology of Down syndrome. Ment Retard Dev Disabil Res Rev. 13(3):221-7, 2007.