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Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.
Nuttle X, Giannuzzi G, Duyzend MH, Schraiber JG, Narvaiza I, Sudmant PH, Penn O, Chiatante G, Malig M, Huddleston J, Benner C, Camponeschi F, Ciofi-Baffoni S, Stessman HA, Marchetto MC, Denman L, Harshman L, Baker C, Raja A, Penewit K, Janke N, Tang WJ, Ventura M, Banci L, Antonacci F, Akey JM, Amemiya CT, Gage FH, Reymond A, Eichler EE. Nuttle X, et al. Among authors: giannuzzi g. Nature. 2016 Aug 11;536(7615):205-9. doi: 10.1038/nature19075. Epub 2016 Aug 3. Nature. 2016. PMID: 27487209 Free PMC article.
Characterization of missing human genome sequences and copy-number polymorphic insertions.
Kidd JM, Sampas N, Antonacci F, Graves T, Fulton R, Hayden HS, Alkan C, Malig M, Ventura M, Giannuzzi G, Kallicki J, Anderson P, Tsalenko A, Yamada NA, Tsang P, Kaul R, Wilson RK, Bruhn L, Eichler EE. Kidd JM, et al. Among authors: giannuzzi g. Nat Methods. 2010 May;7(5):365-71. doi: 10.1038/nmeth.1451. Nat Methods. 2010. PMID: 20440878 Free PMC article.
Evolutionary dynamism of the primate LRRC37 gene family.
Giannuzzi G, Siswara P, Malig M, Marques-Bonet T; NISC Comparative Sequencing Program; Mullikin JC, Ventura M, Eichler EE. Giannuzzi G, et al. Genome Res. 2013 Jan;23(1):46-59. doi: 10.1101/gr.138842.112. Epub 2012 Oct 11. Genome Res. 2013. PMID: 23064749 Free PMC article.
Inter-varietal structural variation in grapevine genomes.
Cardone MF, D'Addabbo P, Alkan C, Bergamini C, Catacchio CR, Anaclerio F, Chiatante G, Marra A, Giannuzzi G, Perniola R, Ventura M, Antonacci D. Cardone MF, et al. Among authors: giannuzzi g. Plant J. 2016 Nov;88(4):648-661. doi: 10.1111/tpj.13274. Epub 2016 Sep 16. Plant J. 2016. PMID: 27419916 Free article.
The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.
Loviglio MN, Arbogast T, Jønch AE, Collins SC, Popadin K, Bonnet CS, Giannuzzi G, Maillard AM, Jacquemont S; 16p11.2 Consortium; Yalcin B, Katsanis N, Golzio C, Reymond A. Loviglio MN, et al. Among authors: giannuzzi g. Am J Hum Genet. 2017 Oct 5;101(4):564-577. doi: 10.1016/j.ajhg.2017.08.016. Epub 2017 Sep 28. Am J Hum Genet. 2017. PMID: 28965845 Free PMC article.
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals.
Giannuzzi G, Schmidt PJ, Porcu E, Willemin G, Munson KM, Nuttle X, Earl R, Chrast J, Hoekzema K, Risso D, Männik K, De Nittis P, Baratz ED; 16p11.2 Consortium; Herault Y, Gao X, Philpott CC, Bernier RA, Kutalik Z, Fleming MD, Eichler EE, Reymond A. Giannuzzi G, et al. Am J Hum Genet. 2019 Nov 7;105(5):947-958. doi: 10.1016/j.ajhg.2019.09.023. Epub 2019 Oct 24. Am J Hum Genet. 2019. PMID: 31668704 Free PMC article.
35 results