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Novel ultra-rare exonic variants identified in a founder population implicate cadherins in schizophrenia.
Lencz T, Yu J, Khan RR, Flaherty E, Carmi S, Lam M, Ben-Avraham D, Barzilai N, Bressman S, Darvasi A, Cho JH, Clark LN, Gümüş ZH, Vijai J, Klein RJ, Lipkin S, Offit K, Ostrer H, Ozelius LJ, Peter I, Malhotra AK, Maniatis T, Atzmon G, Pe'er I. Lencz T, et al. Among authors: ben avraham d. Neuron. 2021 May 5;109(9):1465-1478.e4. doi: 10.1016/j.neuron.2021.03.004. Epub 2021 Mar 22. Neuron. 2021. PMID: 33756103 Free PMC article.
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins.
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. Carmi S, et al. Nat Commun. 2014 Sep 9;5:4835. doi: 10.1038/ncomms5835. Nat Commun. 2014. PMID: 25203624 Free PMC article.
Differential burden of rare protein truncating variants in Alzheimer's disease patients compared to centenarians.
Freudenberg-Hua Y, Li W, Abhyankar A, Vacic V, Cortes V, Ben-Avraham D, Koppel J, Greenwald B, Germer S; T2D-GENES Consortium; Darnell RB, Barzilai N, Freudenberg J, Atzmon G, Davies P. Freudenberg-Hua Y, et al. Hum Mol Genet. 2016 Jul 15;25(14):3096-3105. doi: 10.1093/hmg/ddw150. Epub 2016 Jun 3. Hum Mol Genet. 2016. PMID: 27260402 Free PMC article.
High-depth whole genome sequencing of an Ashkenazi Jewish reference panel: enhancing sensitivity, accuracy, and imputation.
Lencz T, Yu J, Palmer C, Carmi S, Ben-Avraham D, Barzilai N, Bressman S, Darvasi A, Cho JH, Clark LN, Gümüş ZH, Joseph V, Klein R, Lipkin S, Offit K, Ostrer H, Ozelius LJ, Peter I, Atzmon G, Pe'er I. Lencz T, et al. Among authors: ben avraham d. Hum Genet. 2018 Apr;137(4):343-355. doi: 10.1007/s00439-018-1886-z. Epub 2018 Apr 28. Hum Genet. 2018. PMID: 29705978 Free PMC article.
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y, Freudenberg J, Vacic V, Abhyankar A, Emde AK, Ben-Avraham D, Barzilai N, Oschwald D, Christen E, Koppel J, Greenwald B, Darnell RB, Germer S, Atzmon G, Davies P. Freudenberg-Hua Y, et al. Mol Genet Genomic Med. 2014 Sep;2(5):438-50. doi: 10.1002/mgg3.86. Epub 2014 Jun 15. Mol Genet Genomic Med. 2014. PMID: 25333069 Free PMC article.
Four Genome-Wide Association Studies Identify New Extreme Longevity Variants.
Sebastiani P, Gurinovich A, Bae H, Andersen S, Malovini A, Atzmon G, Villa F, Kraja AT, Ben-Avraham D, Barzilai N, Puca A, Perls TT. Sebastiani P, et al. J Gerontol A Biol Sci Med Sci. 2017 Oct 12;72(11):1453-1464. doi: 10.1093/gerona/glx027. J Gerontol A Biol Sci Med Sci. 2017. PMID: 28329165 Free PMC article.
The GH receptor exon 3 deletion is a marker of male-specific exceptional longevity associated with increased GH sensitivity and taller stature.
Ben-Avraham D, Govindaraju DR, Budagov T, Fradin D, Durda P, Liu B, Ott S, Gutman D, Sharvit L, Kaplan R, Bougnères P, Reiner A, Shuldiner AR, Cohen P, Barzilai N, Atzmon G. Ben-Avraham D, et al. Sci Adv. 2017 Jun 16;3(6):e1602025. doi: 10.1126/sciadv.1602025. eCollection 2017 Jun. Sci Adv. 2017. PMID: 28630896 Free PMC article.
86 results