Giuliana Giannuzzi
Giuliana Giannuzzi
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Characterization of missing human genome sequences and copy-number polymorphic insertions
JM Kidd, N Sampas, F Antonacci, T Graves, R Fulton, HS Hayden, ...
Nature methods 7 (5), 365-371, 2010
Chromatin three-dimensional interactions mediate genetic effects on gene expression
O Delaneau, M Zazhytska, C Borel, G Giannuzzi, G Rey, C Howald, ...
Science 364 (6439), eaat8266, 2019
Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility
X Nuttle, G Giannuzzi, MH Duyzend, JG Schraiber, I Narvaiza, ...
Nature 536 (7615), 205-209, 2016
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
MN Loviglio, M Leleu, K Männik, M Passeggeri, G Giannuzzi, ...
Molecular Psychiatry 22 (6), 836-849, 2017
A potential contributory role for ciliary dysfunction in the 16p11. 2 600 kb BP4-BP5 pathology
E Migliavacca, C Golzio, K Männik, I Blumenthal, EC Oh, L Harewood, ...
The American Journal of Human Genetics 96 (5), 784-796, 2015
New insights into centromere organization and evolution from the white-cheeked gibbon and marmoset
A Cellamare, CR Catacchio, C Alkan, G Giannuzzi, F Antonacci, ...
Molecular biology and evolution 26 (8), 1889-1900, 2009
Analysis of high-identity segmental duplications in the grapevine genome
G Giannuzzi, P D'Addabbo, M Gasparro, M Martinelli, FN Carelli, ...
BMC genomics 12 (1), 1-14, 2011
Inter‐varietal structural variation in grapevine genomes
MF Cardone, P D'Addabbo, C Alkan, C Bergamini, CR Catacchio, ...
The Plant Journal 88 (4), 648-661, 2016
The immune signaling adaptor LAT contributes to the neuroanatomical phenotype of 16p11. 2 BP2-BP3 CNVs
MN Loviglio, T Arbogast, AE Jønch, SC Collins, K Popadin, CS Bonnet, ...
The American Journal of Human Genetics 101 (4), 564-577, 2017
Evolutionary dynamism of the primate LRRC37 gene family
G Giannuzzi, P Siswara, M Malig, T Marques-Bonet, JC Mullikin, ...
Genome research 23 (1), 46-59, 2013
The human-specific BOLA2 duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11. 2 autism individuals
G Giannuzzi, PJ Schmidt, E Porcu, G Willemin, KM Munson, X Nuttle, ...
The American Journal of Human Genetics 105 (5), 947-958, 2019
Inactivation of AMMECR1 is associated with growth, bone, and heart alterations
M Moysés‐Oliveira, G Giannuzzi, RJ Fish, JA Rosenfeld, F Petit, ...
Human mutation 39 (2), 281-291, 2018
Centromere destiny in dicentric chromosomes: new insights from the evolution of human chromosome 2 ancestral centromeric region
G Chiatante, G Giannuzzi, FM Calabrese, EE Eichler, M Ventura
Molecular biology and evolution 34 (7), 1669-1681, 2017
Hominoid fission of chromosome 14/15 and the role of segmental duplications
G Giannuzzi, M Pazienza, J Huddleston, F Antonacci, M Malig, L Vives, ...
Genome research 23 (11), 1763-1773, 2013
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
N Voisin, RE Schnur, S Douzgou, SM Hiatt, CF Rustad, NJ Brown, DL Earl, ...
The American Journal of Human Genetics 108 (5), 857-873, 2021
Novel H3K4me3 marks are enriched at human-and chimpanzee-specific cytogenetic structures
G Giannuzzi, E Migliavacca, A Reymond
Genome research 24 (9), 1455-1468, 2014
Evolutionary Dynamics of the POTE Gene Family in Human and Nonhuman Primates
FAM Maggiolini, L Mercuri, F Antonacci, F Anaclerio, FM Calabrese, ...
Genes 11 (2), 213, 2020
The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms
N Chatron, G Giannuzzi, PA Rollat-Farnier, F Diguet, E Porcu, T Yammine, ...
bioRxiv, 2020.07. 17.206771, 2020
Variants in USP48 encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss
S Bassani, E Van Beelen, M Rossel, N Voisin, A Morgan, Y Arribat, ...
Human Molecular Genetics 30 (19), 1785-1796, 2021
Balanced X autosome translocation suggests association of AMMECR1 disruption with hearing loss short stature bone and heart alterations
M Moyses-Oliveira, R Fish, G Giannuzzi, E Karaca, Z Akdemir, F Petit, ...
Molecular Cytogenetics, 2017
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