Giuliana Giannuzzi

Publications | Mémoires et thèses

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10 publications

2019 | 2018 | 2017 | 2016 | 2015 | 2014 | 2013 |
 
Chromatin three-dimensional interactions mediate genetic effects on gene expression.
Delaneau O., Zazhytska M., Borel C., Giannuzzi G., Rey G., Howald C., Kumar S., Ongen H., Popadin K., Marbach D. et al., 2019/05/03. Science, 364 (6439). Peer-reviewed.
 
Inactivation of AMMECR1 is associated with growth, bone, and heart alterations.
Moysés-Oliveira M., Giannuzzi G., Fish R.J., Rosenfeld J.A., Petit F., Soares M.F., Kulikowski L.D., Di-Battista A., Zamariolli M., Xia F. et al., 2018/02. Human mutation, 39 (2) pp. 281-291. Peer-reviewed.
 
Centromere Destiny in Dicentric Chromosomes: New Insights from the Evolution of Human Chromosome 2 Ancestral Centromeric Region.
Chiatante G., Giannuzzi G., Calabrese F.M., Eichler E.E., Ventura M., 2017. Molecular Biology and Evolution, 34 (7) pp. 1669-1681. Peer-reviewed.
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes.
Loviglio M.N., Leleu M., Männik K., Passeggeri M., Giannuzzi G., van der Werf I., Waszak S.M., Zazhytska M., Roberts-Caldeira I., Gheldof N. et al., 2017. Molecular Psychiatry, 22 (6) pp. 836-849. Peer-reviewed.
 
The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs.
Loviglio M.N., Arbogast T., Jønch A.E., Collins S.C., Popadin K., Bonnet C.S., Giannuzzi G., Maillard A.M., Jacquemont S., 16p11.2 Consortium et al., 2017. American Journal of Human Genetics, 101 (4) pp. 564-577. Peer-reviewed.
 
Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.
Nuttle X., Giannuzzi G., Duyzend M.H., Schraiber J.G., Narvaiza I., Sudmant P.H., Penn O., Chiatante G., Malig M., Huddleston J. et al., 2016. Nature, 536 (7615) pp. 205-209. Peer-reviewed.
 
Inter-varietal structural variation in grapevine genomes.
Cardone M.F., D'Addabbo P., Alkan C., Bergamini C., Catacchio C.R., Anaclerio F., Chiatante G., Marra A., Giannuzzi G., Perniola R. et al., 2016. Plant Journal, 88 (4) pp. 648-661. Peer-reviewed.
 
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology.
Migliavacca E., Golzio C., Männik K., Blumenthal I., Oh E.C., Harewood L., Kosmicki J.A., Loviglio M.N., Giannuzzi G., Hippolyte L. et al., 2015. American Journal of Human Genetics, 96 (5) pp. 784-796.
 
Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures.
Giannuzzi G., Migliavacca E., Reymond A., 2014. Genome Research, 24 (9) pp. 1455-1468.
 
Hominoid fission of chromosome 14/15 and the role of segmental duplications.
Giannuzzi G., Pazienza M., Huddleston J., Antonacci F., Malig M., Vives L., Eichler E.E., Ventura M., 2013. Genome Research, 23 (11) pp. 1763-1773.
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