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Page 1
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.
Principles for the organization of gene-sets.
Li W, Freudenberg J, Oswald M. Li W, et al. Comput Biol Chem. 2015 Dec;59 Pt B:139-49. doi: 10.1016/j.compbiolchem.2015.04.005. Epub 2015 Jun 10. Comput Biol Chem. 2015. PMID: 26188561 Review.
Mappability and read length.
Li W, Freudenberg J. Li W, et al. Front Genet. 2014 Nov 10;5:381. doi: 10.3389/fgene.2014.00381. eCollection 2014. Front Genet. 2014. PMID: 25426137 Free PMC article. Review.
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.
Absolute pitch exhibits phenotypic and genetic overlap with synesthesia.
Gregersen PK, Kowalsky E, Lee A, Baron-Cohen S, Fisher SE, Asher JE, Ballard D, Freudenberg J, Li W. Gregersen PK, et al. Hum Mol Genet. 2013 May 15;22(10):2097-104. doi: 10.1093/hmg/ddt059. Epub 2013 Feb 12. Hum Mol Genet. 2013. PMID: 23406871 Free PMC article. Clinical Trial.