Giuliana Giannuzzi
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View article: Synergistic role of <i>Alu</i> and core duplicon sequences in driving genomic instability at the disease-associated 16p12.3–p13.11 region
Synergistic role of <i>Alu</i> and core duplicon sequences in driving genomic instability at the disease-associated 16p12.3–p13.11 region Open
Human chromosome 16p is a hotspot of interspersed segmental duplications (SDs), which have served as row material for gene innovation while also increasing susceptibility to recurrent pathogenic rearrangements. These SDs are organized arou…
View article: <i>AGAP</i>duplicons associate with structural diversity at Chromosome 10q11.22
<i>AGAP</i>duplicons associate with structural diversity at Chromosome 10q11.22 Open
The 10q11.22 chromosomal region is a duplication-rich interval of the human genome and one of the last to be fully assembled. It carries copy number–variable genes associated with intellectual disability, bipolar disorder, and obesity. In …
View article: The pancancer overexpressed NFYC Antisense 1 controls cell cycle mitotic progression through in cis and in trans modes of action
The pancancer overexpressed NFYC Antisense 1 controls cell cycle mitotic progression through in cis and in trans modes of action Open
View article: Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators?
Olfactory receptor genes and chromosome 11 structural aberrations: Players or spectators? Open
View article: Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts
Author Correction: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts Open
No abstract available
View article: Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts
Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts Open
View article: Alpha Satellite Insertion Close to an Ancestral Centromeric Region
Alpha Satellite Insertion Close to an Ancestral Centromeric Region Open
Human centromeres are mainly composed of alpha satellite DNA hierarchically organized as higher-order repeats (HORs). Alpha satellite dynamics is shown by sequence homogenization in centromeric arrays and by its transfer to other centromer…
View article: Variants in <i>USP48</i> encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss
Variants in <i>USP48</i> encoding ubiquitin hydrolase are associated with autosomal dominant non-syndromic hereditary hearing loss Open
Non-Syndromic Hereditary Hearing Loss (NSHHL) is a genetically heterogeneous sensory disorder with about 120 genes already associated. Through exome sequencing (ES) and data aggregation, we identified a family with six affected individuals…
View article: Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy Open
View article: Alpha satellite insertion close to an ancestral centromeric region
Alpha satellite insertion close to an ancestral centromeric region Open
Human centromeres are mainly composed of alpha satellite DNA hierarchically organized as higher-order repeats (HORs). Alpha satellite dynamics is shown by sequence homogenization in centromeric arrays and by its transfer to other centromer…
View article: Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Oral Presentations
Abstracts from the 53rd European Society of Human Genetics (ESHG) Conference: Oral Presentations Open
View article: Evolutionary Dynamics of the POTE Gene Family in Human and Nonhuman Primates
Evolutionary Dynamics of the POTE Gene Family in Human and Nonhuman Primates Open
POTE (prostate, ovary, testis, and placenta expressed) genes belong to a primate-specific gene family expressed in prostate, ovary, and testis as well as in several cancers including breast, prostate, and lung cancers. Due to their tumor-s…
View article: The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals
The Human-Specific BOLA2 Duplication Modifies Iron Homeostasis and Anemia Predisposition in Chromosome 16p11.2 Autism Individuals Open
View article: Variants in the degron of<i>AFF3</i>cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy
Variants in the degron of<i>AFF3</i>cause a multi-system disorder with mesomelic dysplasia, horseshoe kidney and developmental and epileptic encephalopathy Open
The ALF transcription factor paralogs, AFF1, AFF2, AFF3 and AFF4 , are components of the transcriptional super elongation complex that regulates expression of genes involved in neurogenesis and development. We describe a new autosomal domi…
View article: The human-specific <i>BOLA2</i> duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11.2 autism patients
The human-specific <i>BOLA2</i> duplication modifies iron homeostasis and anemia predisposition in chromosome 16p11.2 autism patients Open
Human-specific duplications at chromosome 16p11.2 mediate recurrent pathogenic 600 kbp BP4-BP5 copy number variations, one of the most common genetic causes of autism. These copy number polymorphic duplications are under positive selection…
View article: Chromatin three-dimensional interactions mediate genetic effects on gene expression
Chromatin three-dimensional interactions mediate genetic effects on gene expression Open
Noncoding variation and gene expression Natural genetic variation outside of protein coding regions affects multiple molecular phenotypes that can differ across individuals. To examine how genomic variation affects proximal (cis) or distal…
View article: Inactivation of <i>AMMECR1</i> is associated with growth, bone, and heart alterations
Inactivation of <i>AMMECR1</i> is associated with growth, bone, and heart alterations Open
We report five individuals with loss-of-function of the X-linked AMMECR1: a girl with a balanced X-autosome translocation and inactivation of the normal X-chromosome; two boys with maternally inherited and de novo nonsense variants; and tw…
View article: The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs
The Immune Signaling Adaptor LAT Contributes to the Neuroanatomical Phenotype of 16p11.2 BP2-BP3 CNVs Open
View article: Centromere Destiny in Dicentric Chromosomes: New Insights from the Evolution of Human Chromosome 2 Ancestral Centromeric Region
Centromere Destiny in Dicentric Chromosomes: New Insights from the Evolution of Human Chromosome 2 Ancestral Centromeric Region Open
Dicentric chromosomes are products of genomic rearrangements that place two centromeres on the same chromosome. Due to the presence of two primary constrictions, they are inherently unstable and overcome their instability by epigenetically…
View article: Balanced X autosome translocation suggests association of AMMECR1 disruption with hearing loss short stature bone and heart alterations
Balanced X autosome translocation suggests association of AMMECR1 disruption with hearing loss short stature bone and heart alterations Open
View article: Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility
Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility Open
View article: Inter‐varietal structural variation in grapevine genomes
Inter‐varietal structural variation in grapevine genomes Open
Summary Grapevine ( Vitis vinifera L.) is one of the world's most important crop plants, which is of large economic value for fruit and wine production. There is much interest in identifying genomic variations and their functional effects …
View article: Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes
Chromosomal contacts connect loci associated with autism, BMI and head circumference phenotypes Open
View article: Genomics technologies to study structural variations in the grapevine genome
Genomics technologies to study structural variations in the grapevine genome Open
Grapevine is one of the most important crop plants in the world. Recently there was great expansion of genomics resources about grapevine genome, thus providing increasing efforts for molecular breeding. Current cultivars display a great l…
View article: A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology
A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology Open