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 | 184 | 2019 |
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 | 183 | 2010 |
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 | 116 | 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 | 89 | 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 | 67 | 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 | 60 | 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, 1-14, 2011 | 58 | 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 | 47 | 2016 |
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 | 37 | 2019 |
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 | 36 | 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 | 32 | 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 | 22 | 2021 |
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 | 19 | 2017 |
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 | 17 | 2018 |
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 | 15 | 2013 |
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 | 9 | 2020 |
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 | 8 | 2014 |
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 | 6 | 2021 |
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 | 4 | 2020 |
Possible association of 16p11. 2 copy number variation with altered lymphocyte and neutrophil counts G Giannuzzi, N Chatron, K Mannik, C Auwerx, S Pradervand, G Willemin, ... NPJ Genomic Medicine 7 (1), 38, 2022 | 3 | 2022 |