IRIS
CALI', FRANCESCO
 Distribuzione geografica
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Continente #
NA - Nord America 1.628
AS - Asia 843
EU - Europa 260
SA - Sud America 239
Continente sconosciuto - Info sul continente non disponibili 112
AF - Africa 16
Totale 3.098
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Nazione #
US - Stati Uniti d'America 1.598
SG - Singapore 272
CN - Cina 207
BR - Brasile 181
BD - Bangladesh 131
VN - Vietnam 111
IT - Italia 109
HK - Hong Kong 50
FR - Francia 33
DE - Germania 27
SE - Svezia 22
AR - Argentina 21
IE - Irlanda 15
PL - Polonia 14
MX - Messico 12
IN - India 11
IQ - Iraq 11
CA - Canada 10
CL - Cile 9
EC - Ecuador 8
GB - Regno Unito 8
ID - Indonesia 8
NL - Olanda 8
TR - Turchia 8
RU - Federazione Russa 7
CR - Costa Rica 6
AZ - Azerbaigian 5
PK - Pakistan 5
PY - Paraguay 5
CO - Colombia 4
PH - Filippine 4
VE - Venezuela 4
ZA - Sudafrica 4
AE - Emirati Arabi Uniti 3
AT - Austria 3
FI - Finlandia 3
JO - Giordania 3
MA - Marocco 3
UA - Ucraina 3
UY - Uruguay 3
AO - Angola 2
BO - Bolivia 2
EG - Egitto 2
ES - Italia 2
KZ - Kazakistan 2
PE - Perù 2
PS - Palestinian Territory 2
TH - Thailandia 2
UZ - Uzbekistan 2
AL - Albania 1
BA - Bosnia-Erzegovina 1
BG - Bulgaria 1
BN - Brunei Darussalam 1
BW - Botswana 1
DZ - Algeria 1
GE - Georgia 1
JM - Giamaica 1
JP - Giappone 1
KR - Corea 1
LB - Libano 1
LT - Lituania 1
LV - Lettonia 1
LY - Libia 1
MR - Mauritania 1
MY - Malesia 1
NG - Nigeria 1
PR - Porto Rico 1
RS - Serbia 1
Totale 2.986
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Città #
Dallas 988
San Jose 116
Ashburn 99
Singapore 90
Hong Kong 49
Beijing 45
Ho Chi Minh City 45
New York 37
Chicago 27
Hillsboro 23
Santa Clara 22
Hanoi 20
Dublin 15
São Paulo 13
Warsaw 13
Frankfurt am Main 12
Los Angeles 12
Rome 10
Orem 9
Council Bluffs 8
Haiphong 7
Milan 7
Naples 7
Baghdad 5
Catania 5
Curitiba 5
Istanbul 5
Mexico City 5
Montreal 5
Rio de Janeiro 5
San José 5
Bologna 4
Brasília 4
Cachoeirinha 4
Concepción 4
Fortaleza 4
Hải Dương 4
Limburg an der Lahn 4
Lấp Vò 4
Modena 4
São Bernardo do Campo 4
Zhengzhou 4
Amman 3
Biên Hòa 3
Boardman 3
Boston 3
Buffalo 3
Da Nang 3
Florence 3
Goiânia 3
Guarulhos 3
Helsinki 3
Joinville 3
Marília 3
Messina 3
North Kansas City 3
Porto Alegre 3
Reston 3
Seattle 3
Thái Bình 3
Assago 2
Baku 2
Bắc Giang 2
Bắc Ninh 2
Cagliari 2
Can Tho 2
Canoas 2
Capão da Canoa 2
Caruaru 2
Casablanca 2
Chennai 2
Dhaka 2
Dongguan 2
Duhok 2
Erbil 2
Genoa 2
Guayaquil 2
Huế 2
Johannesburg 2
Jundiaí 2
La Paz 2
Laferrere 2
Luanda 2
Manaus 2
Miami 2
Montevideo 2
Munich 2
Newark 2
Nuremberg 2
Omaha 2
Palermo 2
Phoenix 2
Piracicaba 2
Queens 2
Quito 2
Resistencia 2
Rio Claro 2
San Bernardo 2
Santa Maria di Licodia 2
Santo André 2
Totale 1.892
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Nome #
1.5 Mb de novo 22q11.21 microduplication in a patient with cognitive deficits and dysmorphic facial features 152
Comparative multiplex dosage analysis in spinocerebellar ataxia type 2 patients 69
Multiplex ligation-dependent probe amplification detection of an unknown large deletion of the CREB-binding protein gene in a patient with Rubinstein-Taybi Syndrome 68
Genetic Screening of Tuberous Sclerosis Complex in Sicily with a Focus on Neurological Manifestations 67
A de novo heterozygous mutation in KCNC2 gene implicated in severe developmental and epileptic encephalopathy 66
Identification of a Novel Missense Mutation of POLR3A Gene in a Cohort of Sicilian Patients with Leukodystrophy 58
Archaeogenetics and Landscape Dynamics in Sicily during the Holocene: A Review 57
Genetic screening of tuberous sclerosis complex in Sicily with a focus on neurological manifestations 57
A de novo ARIH2 gene mutation was detected in a patient with autism spectrum disorders and intellectual disability 56
Juvenile myoclonic epilepsy with generallsed and focal electroencephalographic abnormalities: a case report with a molecular genetic study 55
Potential Association of the CSMD1 Gene with Moderate Intellectual Disability, Anxiety Disorder, and Obsessive–Compulsive Personality Traits 52
PLEKHG1: New Potential Candidate Gene for Periventricular White Matter Abnormalities 52
Exon deletions of the phenylalanine hydroxylase gene in Italian hyperphenylalaninemics 51
Next Generation Sequencing and Electromyography Reveal the Involvement of the P2RX6 Gene in Myopathy 51
Are Mutations in the DHRS9 Gene Causally Linked to Epilepsy? A Case Report 50
Bioinformatic Evaluation of KLF13 Genetic Variant: Implications for Neurodevelopmental and Psychiatric Symptoms 49
Mutation spectrum of NF1 gene in Italian patients with neurofibromatosis type 1 using Ion Torrent PGM (TM) platform 48
Screening of subtelomeric rearrangements in autistic disorder: Identification of a partial trisomy of 13q34 in a patient bearing a 13q;21p translocation 48
Unravelling the role of Neurotrimin (NTM), a member of the IgLON family, in mild intellectual disability and anxiety-like behaviors 47
Strengthening the Role of PSMC5 as a Potential Gene Associated with Neurodevelopmental Disorders 46
Clinical Application of a Customized Gene Panel for Identifying Autism Spectrum Disorder-Associated Variants 46
Lack of association of {HOXA}1 and {HOXB}1 mutations and autism in Sicilian (Italian) patients 45
STXBP6 Gene Mutation: A New Form of SNAREopathy Leads to Developmental Epileptic Encephalopathy 45
Whole Exome Sequencing as a First-Line Molecular Genetic Test in Developmental and Epileptic Encephalopathies 45
Potential Role of ABCF2 Gene in Pudendal Nerve Neuropathy and Interstitial Cystitis 43
KCNQ2-Related Neonatal Epilepsy Treated With Vitamin B6: A Report of Two Cases and Literature Review 43
A Novel Homozygous ALG12 Mutation in a Patient with CDG Type Ig: New Report of a Case with a Mild Phenotype 42
Implications of a De Novo Variant in the SOX12 Gene in a Patient with Generalized Epilepsy, Intellectual Disability, and Childhood Emotional Behavioral Disorders 42
Mutations in ACTL6B, coding for a subunit of the neuron-specific chromatin remodeling complex nBAF, cause early onset severe developmental and epileptic encephalopathy with brain hypomyelination and cerebellar atrophy 41
PHF21A Related Disorder: Description of a New Case 41
ZNF496 as Candidate Gene for Neurodevelopmental Disorders: Identification of a Pathogenic De Novo Frameshift Variant 40
Suggestive evidence for association of D2S2188 marker (2q31.1) with autism in 143 Sicilian (Italian) TRIO families 39
Exploring the Role of FICD, a New Potential Gene Involved in Borderline Intellectual Functioning, Psychological and Metabolic Disorders 38
Exome sequencing in a child with neurodevelopmental disorder and epilepsy: Variant analysis of the AHNAK2 gene 37
Implementation of Sample Pooling Procedure Using a Rapid SARS-CoV-2 Diagnostic Real-Time PCR Test Performed Prior to Hospital Admission of People with Intellectual Disabilities 37
Novel SPINK5 variants in a patient with Netherton syndrome and intellectual disability. The diagnostic value of trichoscopy 36
UNC5C: Novel Gene Associated with Psychiatric Disorders Impacts Dysregulation of Axon Guidance Pathways 36
Role of COMT V158M Polymorphism in the Development of Dystonia after Administration of Antipsychotic Drugs 35
Specific Learning Disorders: Variation Analysis of 15 Candidate Genes in 9 Multiplex Families 34
An odd precocious case of progressive osseous heteroplasia 34
PPP2R5E: New gene potentially involved in specific learning disorders and myopathy 32
MAN2A2-related glycosylation defects in autism and cognitive delay 31
Letter to the Editor Regarding the Article “Whole-Exome Sequencing in NF1-Related West's Syndrome Leads to the Identification of KCNC2 as a Novel Candidate Gene for Epilepsy” 31
Tracing European Founder Lineages in the Near Eastern mtDNA Pool 30
Functional Annotation of Genes Overlapping Copy Number Variants in Autistic Patients: Focus on Axon Pathfinding 28
TBC1D24 gene mRNA expression in a boy with early infantile epileptic encephalopathy-16 28
Autosomal Microsatellite and mtDNA Genetic Analysis in Sicily (Italy) 28
A Customized Next-Generation Sequencing-Based Panel to Identify Novel Genetic Variants in Dementing Disorders: A Pilot Study 28
Unravelling the role of Neurotrimin (NTM), a member of the IgLON family, in mild intellectual disability and anxiety-like behaviors 25
Dissecting the Genetic Contribution of Tooth Agenesis 25
Special Issue “Molecular Progression in Genome-Related Diseases” 24
NGS Approaches in Clinical Diagnostics: From Workflow to Disease-Specific Applications 24
Analysis of the gastrin-releasing peptide receptor gene in Italian patients with autism spectrum disorders 23
Ancient human genomes suggest three ancestral populations for present-day Europeans 23
A methodological strategy for PAH genotyping in populations with a marked molecular heterogeneity of hyperphenylalaninemia 23
Assessing the Impact of Copy Number Variants on miRNA Genes in Autism by Monte Carlo Simulation 23
Association between haplotypes, Hind III‐VNTR alleles and mutations at the PAH locus in Sicily 22
Novel deletion of the E3A ubiquitin protein ligase gene detected by multiplex ligation-dependent probe amplification in a patient with Angelman syndrome 22
Cell line DNA typing in forensic genetics—the necessity of reliable standards 21
Moors and Saracens in Europe: estimating the medieval North African male legacy in southern Europe 20
The Greeks in the West: genetic signatures of the Hellenic colonisation in southern Italy and Sicily 20
Mutational analysis of EFHC1 gene in italian families with juvenile myoclonic epilepsy 19
DXYS156: a multi-purpose short tandem repeat locus for determination of sex, paternal and maternal geographic origins and DNA fingerprinting 18
Genetic diversity within the R408W phenylketonuria mutation lineages in Europe 18
Continental and subcontinental distributions of mtDNA control region types 18
Dental anxiety in patients with borderline intellectual functioning and patients with intellectual disabilities 17
GRIN2A: involvement in movement disorders and intellectual disability without seizures 17
Novel compound heterozygous mutation in NPC1 gene cause Niemann–Pick disease type C with juvenile onset 17
Autosomal recessive spino-cerebellar ataxia type 10 (SCAR10): clinical presentation associated with c.289delA ANO10 gene variant 17
Differential Greek and northern African migrations to Sicily are supported by genetic evidence from the Y chromosome 16
New Insights Into TRMT10A Syndrome: Case Report and Literature Review 16
Aninteresting case of Piebaldism with café-au-lait macules and freckling: the use of targeted next-generation sequencing for molecular diagnosis 16
Carrier screening for spinal muscular atrophy in Italian population 16
Identification of human D lactate dehydrogenase deficiency 15
Investigating the role of a novel hemizygous FAAH2 variant in neurological and metabolic disorders 15
PAH Gene Mutations in the Sicilian Population: Association with Minihaplotypes and Expression Analysis 14
The Role of Recent Admixture in Forming the Contemporary West Eurasian Genomic Landscape 14
A De Novo USP24 Variant as a Candidate Driver in a Neurodevelopmental Disorder: Insights from Trio-Based Whole-Exome Sequencing 14
Fibroblast Growth Factor Receptor 2 (FGFR2), a New Gene Involved in the Genesis of Autism Spectrum Disorder 14
Novel c.C2254T (p.Q752*) mutation in ZFYVE26 (SPG15) gene in a patient with hereditary spastic paraparesis 14
Potential Link Between a Disruptive CAPN6 Variant and Neurodevelopmental Disorders 14
GENETIC RELATIONSHIPS OF BRASSICA VEGETABLES AND WILD RELATIVES IN SOUTHERN ITALY DETERMINED BY FIVE SSR 14
mtDNA analysis of the human remains buried in the sarcophagus of Federico II 13
Phylogeographic Analysis of Haplogroup E3b (E-M215) Y Chromosomes Reveals Multiple Migratory Events Within and Out Of Africa 12
Dramatic brain aminergic deficit in a genetic mouse model of phenylketonuria 12
Mutations and polymorphisms of the PAH gene in Sicily: comparison with other DNA polymorphisms 11
The STR252 - IVS10nt546 - VNTR7 phenylalanine hydroxylase minihaplotype in five Mediterranean samples 11
The phenylketonuria mouse model: a meeting review 11
MtDNA control region and RFLP data for Sicily and France 11
Population Structure in the Mediterranean Basin: A Y Chromosome Perspective 11
Molecular basis of mild hyperphenylalaninaemia in Turkey 11
PAH deficiency in Italy: correlation of genotype with phenotype in the Sicilian population 11
Towards a genetic history of Sicily 11
Genetic Heterogeneity in Five Italian Regions: Analysis of PAH Mutations and Minihaplotypes 11
Beyond STRs: Integrative Forensic Genomics from MPS to Genetic Genealogy and AI-Based Prediction 10
Virtual Reality Versus Monitor-Based Distraction in Children with Mild Intellectual Disability: A Preliminary Comparative Observational Study 9
Maternal phenylketonuria in two Sicilian families identified by maternal blood phenylalanine level screening and identification of a new phenylalanine hydroxylase gene mutation (P407L) 9
SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Down’s syndrome subjects with undescended testes 9
Preliminary studies on the molecular basis of hyperphenylalaninemia in Egypt 9
SPANX-B and SPANX-C (Xq27 region) gene dosage analysis in Sicilian patients with melanoma 8
Totale 3.052
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Categoria #
all - tutte 13.646
article - articoli 0
book - libri 0
conference - conferenze 0
curatela - curatele 0
other - altro 0
patent - brevetti 0
selected - selezionate 0
volume - volumi 0
Totale 13.646
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2023/202411 0 0 0 0 0 0 0 1 2 4 3 1
2024/202590 3 2 2 1 6 3 1 2 2 6 43 19
2025/20262.862 29 218 932 295 92 166 85 278 272 205 162 128
2026/2027135 68 67 0 0 0 0 0 0 0 0 0 0
Totale 3.098