Newest Consortium Publication: 

Carmi S, Hui KY, Kochav E, Liu X, Xue J, Grady F, Guha S, Upadhyay K, Ben-Avraham D,  Mukherjee S, Bowen BM, Thomas T, Vijai J, Cruts M, Froyen G, Lambrechts D, Plaisance S, Van Broeckhoven C, Van Damme P, Van Marck H, Barzilai N, Darvasi A, Offit K, Bressman S, Ozelius LJ, Peter I, Cho JH, Ostrer H, Atzmon G, Clark LN, Lencz T, Pe’er I. (2014) Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins. Nat Commun 5, 4835.

General Studies of the Ashkenazi Population by Consortium Members:

Carmi S, Palamara PF, Vacic V, Lencz T, Darvasi A, Pe’er I. (2013) The variance of identity-by-descent sharing in the Wright-Fisher model. Genetics 193(3): 911-28.

Ostrer H, Skorecki K. (2013) The population genetics of the Jewish people. Hum Genet 132(2):119-27.

Palamara PF, Lencz T, Darvasi A, Pe’er I. (2012) Length distributions of identity by descent reveal fine-scale demographic history. Am J Hum Genet 91(5):809-22.

Guha S, Rosenfeld JA, Malhotra AK, Lee AT, Gregersen PK, Kane JM, Pe’er I, Darvasi A, Lencz T. (2012) Implications for health and disease in the genetic signature of the Ashkenazi Jewish population. Genome Biol 13:R2

Atzmon G, Hao L, Pe’er I, Velez C, Pearlman A, Palamara PF, Morrow B, Friedman E, Oddoux C, Burns E, Ostrer H. (2010) Abraham’s children in the genome era: major Jewish diaspora populations comprise distinct genetic clusters with shared Middle Eastern Ancestry. Am J Hum Genet 86(6):850-9.

Publications on Specific Diseases/Disorders by Consortium Members using Ashkenazi Cohorts: 

Schizophrenia and bipolar disorder

Mukherjee S, Guha S, Ikeda M, Iwata N, Malhotra AK, Pe’er I, Darvasi A, Lencz T. (2014) Excess of homozygosity in the major histocompatibility complex in schizophrenia. Hum Mol Genet, in press.

Lencz T, Guha S, Liu C, Rosenfeld J, Mukherjee S, DeRosse P, John M, Cheng L, Zhang C, Badner JA, Ikeda M, Iwata N, Cichon S, Rietschel M, Nöthen MM, Cheng ATA, Hodgkinson C, Yuan Q, Kane JM, Lee AT, Pisanté A, Gregersen PK, Pe’er I, Malhotra AK, Goldman D, Darvasi A. (2013) Genome-wide association study implicates NDST3 in schizophrenia and bipolar disorder. Nat Commun 4:2739.

Parkinson’s disease

Vacic V, Ozelius LJ, Clark LN, Bar-Shira A, Gana-Weisz M, Gurevich T, Gusev A, Kedmi M, Kenny EE, Liu X, Mejia-Santana H, Mirelman A, Raymond D, Saunders-Pullman R, Desnick RJ, Atzmon G, Burns ER, Ostrer H, Hakonarson H, Bergman A, Barzilai N, Darvasi A, Peter I, Guha S, Lencz T, Giladi N, Marder K, Pe’er I, Bressman SB, Orr-Urtreger A. (2014) Genome-wide mapping of identical-by-descent segments in an Ashkenazi Parkinson disease cohort identifies associated haplotypes. Hum Mol Genet 23(17):4693-702.

Liu X, Cheng R, Verbitsky M, Kisselev S, Browne A, Mejia-Sanatana H, Louis ED, Cote LJ, Andrews H, Waters C, Ford B,Frucht S, Fahn S, Marder K, Clark LN, Lee JH. (2011) Genome-wide association study identifies candidate genes for Parkinson’s disease in an Ashkenazi Jewish population. BMC Med Genet 12:104.

Crohn’s disease

Zhang W, Hui KY, Gusev A, Warner N, Ng SM, Ferguson J, Choi M, Burberry A, Abraham C, Mayer L, Desnick RJ, Cardinale CJ, Hakonarson H, Waterman M, Chowers Y, Karban A, Brant SR, Silverberg MS, Gregersen PK, Katz S, Lifton RP, Zhao H, Nuñez G, Pe’er I, Peter I, Cho JH. (2013) Extended haplotype association study in Crohn’s disease identifies a novel, Ashkenazi Jewish-specific missense mutation in the NF-κB pathway gene, HEATR3. Genes Immun 14(5):310-6.

Kenny EE, Pe’er I, Karban A, Ozelius L, Mitchell AA, Ng SM, Erazo M, Ostrer H, Abraham C, Abreu MT, Atzmon G, Barzilai N, Brant SR, Bressman S, Burns ER, Chowers Y, Clark LN, Darvasi A, Doheny D, Duerr RH, Eliakim R, Giladi N, Gregersen PK, Hakonarson H, Jones MR, Marder K, McGovern DP, Mulle J, Orr-Urtreger A, Proctor DD, Pulver A, Rotter JI, Silverberg MS, Ullman T, Warren ST, Waterman M, Zhang W, Bergman A, Mayer L, Katz S, Desnick RJ, Cho JH, Peter I. (2012) A genome-wide scan of Ashkenazi Jewish Crohn’s disease suggests novel susceptibility loci. PLoS Genet 8(3):e1002559.

Cancer

Alanee S, Shah S, Vijai J, Schrader K, Hamilton R, Rau-Murthy R, Sarrel K, Manschreck C, Eastham J, Offit K. (2013) Prevalence of HOXB13 mutation in a population of Ashkenazi Jewish men treated for prostate cancer. Fam Cancer 2(4):597-600.

Rinella ES, Shao Y, Yackowski L, Pramanik S, Oratz R, Schnabel F, Guha S, LeDuc C, Campbell CL, Klugman SD, Terry MB, Senie RT, Andrulis IL, Daly M, John EM, Roses D, Chung WK, Ostrer H. (2013) Genetic variants associated with breast cancer risk for Ashkenazi Jewish women with strong family histories but no identifiable BRCA1/2 mutation. Hum Genet 132(5):523-36.