IRIS
FALETRA, Flavio
 Distribuzione geografica
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Continente #
NA - Nord America 1.635
AS - Asia 894
EU - Europa 510
Continente sconosciuto - Info sul continente non disponibili 374
SA - Sud America 95
AF - Africa 27
OC - Oceania 1
Totale 3.536
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Nazione #
US - Stati Uniti d'America 1.564
SG - Singapore 350
IT - Italia 242
CN - Cina 195
FR - Francia 116
BD - Bangladesh 95
VN - Vietnam 88
BR - Brasile 62
HK - Hong Kong 52
DE - Germania 49
IN - India 37
CA - Canada 29
RU - Federazione Russa 20
AR - Argentina 17
GB - Regno Unito 15
MX - Messico 13
NL - Olanda 13
TR - Turchia 12
ZA - Sudafrica 12
ES - Italia 11
FI - Finlandia 10
IQ - Iraq 9
CR - Costa Rica 8
ID - Indonesia 8
IE - Irlanda 7
PK - Pakistan 7
SA - Arabia Saudita 7
JP - Giappone 6
JM - Giamaica 5
KR - Corea 5
UZ - Uzbekistan 5
VE - Venezuela 5
AT - Austria 4
CL - Cile 4
EC - Ecuador 4
JO - Giordania 4
SE - Svezia 4
EG - Egitto 3
GT - Guatemala 3
HN - Honduras 3
MA - Marocco 3
NI - Nicaragua 3
UA - Ucraina 3
AE - Emirati Arabi Uniti 2
BE - Belgio 2
CZ - Repubblica Ceca 2
DZ - Algeria 2
ET - Etiopia 2
KE - Kenya 2
LB - Libano 2
NP - Nepal 2
PH - Filippine 2
PL - Polonia 2
PR - Porto Rico 2
PS - Palestinian Territory 2
RS - Serbia 2
TH - Thailandia 2
UY - Uruguay 2
AD - Andorra 1
AU - Australia 1
AZ - Azerbaigian 1
BB - Barbados 1
BZ - Belize 1
CG - Congo 1
CH - Svizzera 1
CO - Colombia 1
CW - ???statistics.table.value.countryCode.CW??? 1
DM - Dominica 1
DO - Repubblica Dominicana 1
HU - Ungheria 1
LV - Lettonia 1
MT - Malta 1
MU - Mauritius 1
PT - Portogallo 1
RO - Romania 1
SC - Seychelles 1
SK - Slovacchia (Repubblica Slovacca) 1
SV - El Salvador 1
TJ - Tagikistan 1
XK - ???statistics.table.value.countryCode.XK??? 1
Totale 3.164
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Città #
Council Bluffs 346
San Jose 248
Singapore 137
Ashburn 117
Lauterbourg 105
Boardman 65
Los Angeles 47
Hong Kong 46
New York 41
Santa Clara 37
Beijing 34
Milan 32
Phoenix 31
Ho Chi Minh City 29
Hanoi 19
Remanzacco 18
Rome 18
Orem 17
Trieste 17
Munich 16
Chicago 13
Seattle 13
Dallas 12
Atlanta 11
Figino 11
Houston 11
Naples 11
Jinan 10
Montreal 10
Nuremberg 10
São Paulo 10
Buffalo 9
North Bergen 9
Fairfield 8
Frankfurt am Main 8
London 8
Amsterdam 7
Baghdad 7
Brooklyn 7
Denver 7
Dublin 7
Johannesburg 7
Mumbai 7
Philadelphia 7
Wilmington 7
Charlotte 6
Cleveland 6
Hefei 6
Las Vegas 6
Miami 6
New Delhi 6
Pittsburgh 6
Redondo Beach 6
Shanghai 6
Turku 6
Bologna 5
Boston 5
Dhaka 5
Dong Ket 5
Florence 5
Jacksonville 5
San José 5
Seoul 5
Tokyo 5
Turin 5
Udine 5
Woodbridge 5
Bari 4
Cambridge 4
Falkenstein 4
Haiphong 4
Jaipur 4
Riverside 4
Stockholm 4
Tashkent 4
The Bronx 4
Toronto 4
Tucson 4
Amman 3
Ankara 3
Catania 3
Chennai 3
Cincinnati 3
Dammam 3
Dearborn 3
Düsseldorf 3
Ferrandina 3
Guangzhou 3
Guatemala City 3
Hangzhou 3
Helsinki 3
Hải Dương 3
Kingston 3
Lexington 3
Madrid 3
Maracaibo 3
Mexico City 3
Ninh Bình 3
Ogden 3
Pasadena 3
Totale 1.877
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Nome #
Could a chimeric condition be responsible for unexpected genetic syndromes? The role of the single nucleotide polymorphism-array analysis 155
The molecular landscape of hereditary ataxia: a single-center study 136
A bird’s eye view on the use of whole exome sequencing in rare congenital ophthalmic diseases 125
Longitudinal detection of somatic mutations in the saliva of head and neck squamous cell carcinoma–affected patients: a pilot study 121
Chromoanagenesis of chromosome 22 in a subject with obesity and borderline cognitive performance 104
Hydrops fetalis associated with SARS-CoV-2 placentitis and de novo CDK13 mutation: An integrated genetic and histological analysis 90
The impact of the European Society of Cardiology guidelines and whole exome sequencing on genetic testing in hereditary cardiac diseases 90
CDK13-Related Disorder: Novel Insights From A Series of 27 Cases and Recommendations for Clinical Management 77
Obliterated cavum septi pellucidi: is it always a benign finding? A case report and narrative review of the literature 72
The clinical impact of the first-trimester nuchal translucency between the 95th–99th percentiles 67
Prognostic role of genetic variants in recurrent pericarditis 58
Hypoglycaemia due to hyperinsulinism: Diagnosis, causes and management 57
A girl with photosensitivity and hepatic steatosis 54
A Prenatal Diagnosis of Verheij Syndrome in a Fetus Harboring a de novo PUF60 Variant. 51
Mutations in the spliceosomal gene SNW1 cause neurodevelopment disorders with microcephaly 46
Two novel COH1 mutations in an Italian patient with Cohen syndrome 44
Contribution of SNP arrays in diagnosis of deletion 2p11.2-p12 40
Evidence of inbreeding depression on human height 39
The Challenge of Next Generation Sequencing in a Boy with Severe Mononucleosis and EBV-related Lymphoma 39
Could the MED13 mutations manifest as a Kabuki-like syndrome? 35
GNE-related thrombocytopenia: evidence for a mutational hotspot in the ADP/substrate domain of the GNE bifunctional enzyme 35
Expanding Phenotype of Poirier–Bienvenu Syndrome: New Evidence from an Italian Multicentrical Cohort of Patients 35
Detection of epidermal thickening in GJB2 carriers with epidermal US1 32
A case report of glucose transporter 1 deficiency syndrome with growth hormone deficiency diagnosed before starting ketogenic diet 30
First-trimester absent nasal bone: is it a predictive factor for pathogenic CNVs in the low-risk population? 30
A novel P2RX2 mutation in an Italian family affected by autosomal dominant nonsyndromic hearing loss 29
Heterozygous variants in ZBTB7A cause a neurodevelopmental disorder associated with symptomatic overgrowth of pharyngeal lymphoid tissue, macrocephaly, and elevated fetal hemoglobin 29
From DGCR8 expression analysis to diseased pathways in 22q11.2 deletion syndrome 29
Next generation sequencing study in a cohort of Italian patients with syndromic hearing loss 29
Corrigendum to “Tregs and Th17 lymphocytes in human DYRK1A haploinsufficiency” [Immunol. Lett. 214 (2019) 52–54](S0165247819302342)(10.1016/j.imlet.2019.08.003) 28
Dental phenotype in a patient with hypoidrotic ectodermal dysplasia and severe immunodeficiency 27
Genetic variants in patients with recurrent pericarditis 27
Autosomal recessive stickler syndrome due to a loss of function mutation in the COL9A3 gene 27
Things come in threes: A new complex allele and a novel deletion within the CFTR gene complicate an accurate diagnosis of cystic fibrosis 26
A new neurodevelopmental disorder linked to heterozygous variants in UNC79 26
A case of lymphedema-distichiasis syndrome carrying a new de novo frameshift FOXC2 mutation 26
PMM2-CDG: Phenotype and genotype in four affected family members 26
Co-inheritance of two ABCC8 mutations causing an unresponsive congenital hyperinsulinism: Clinical and functional characterization of two novel ABCC8 mutations 26
Genetic analysis of Italian patients with congenital tufting enteropathy 25
Mutations in PLS1, encoding fimbrin, cause autosomal dominant nonsyndromic hearing loss 25
Functional analysis of the third identified SLC25A19 mutation causative for the thiamine metabolism dysfunction syndrome 4 25
Challenging Occam’s Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures 25
Immunity and genetics at the revolving doors of diagnostics in primary immunodeficiencies 24
SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females 24
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants 24
A novel CRYBB2 missense mutation causing congenital autosomal dominant cataract in an Italian family 23
The Genetic Diagnosis of Ultrarare DEEs: An Ongoing Challenge 23
Disrupting integrator complex subunit INTS6 causes neurodevelopmental disorders and impairs neurogenesis and synapse development 23
Hearing loss and brain abnormalities due to pathogenic mutations in ADGRV1 gene: a case report 22
Vertebral defects in patients with Peters plus syndrome and mutations in B3GALTL 22
What Is the Exact Contribution of PITX1 and TBX4 Genes in Clubfoot Development? An Italian Study 22
Buried in the middle but guilty: Intronic mutations in the TCIRG1 gene cause human autosomal recessive osteopetrosis 22
Neonatal presentation of Loeys-Dietz syndrome: two case reports and review of the literature 22
A new case of duplication of the MDS region identified by high-density SNP arrays and a review of the literature 22
Incidence of Congenital Clubfoot: Preliminary Data from Italian CeDAP Registry 22
Case Report: Two cases of apparent discordance between non-invasive prenatal testing (NIPT) and amniocentesis resulting in feto-placental mosaicism of trisomy 21. Issues in diagnosis, investigation and counselling 21
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition 21
Does epidermal thickening explain GJB2 high carrier frequency and heterozygote advantage? 21
Altered germinal center reaction and abnormal B cell peripheral maturation in PI3KR1-mutated patients presenting with HIGM-like phenotype 21
Target sequencing approach intended to discover new mutations in non-syndromic intellectual disability 21
Common Ancestry from Southern Italy: Two Families with Dilated Cardiomyopathy Share the Same Homozygous Loss-of-Function Variant in NRAP 21
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability 21
Beckwith-Wiedemann syndrome and twinning: case report and brief review of literature 21
Deciphering the pathogenesis of the COL4-related hematuric nephritis: A genotype/phenotype study 21
An unusual diagnosis for an usual test 20
A case of prenatal neurocytoma associated with ATR-16 syndrome 20
Prenatal diagnosis of isolated clubfoot: Diagnostic accuracy and long-term postnatal outcomes 20
Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection 20
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C 20
Phylloid pattern of hypomelanosis closely related to chromosomal abnormalities in the 13q detected by SNP array analysis 19
Does the 1.5Mb microduplication in chromosome band Xp22.31 have a pathogenetic role? New contribution and a review of the literature 19
A synonymous mutation in SPINK5 exon 11 causes Netherton syndrome by altering exonic splicing regulatory elements 19
Horizontal gaze palsy and progressive scoliosis without ROBO3 mutations 19
Identification of the first duplication in MYH9-related disease: A hot spot for unequal crossing-over within exon 24 of the MYH9 gene 19
Genome-wide association study identifies six new loci influencing pulse pressure and mean arterial pressure 19
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders 19
A novel spliceosomopathy caused by de novo SF3B3 variants 19
Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates 18
A new case of TAR syndrome confirms the importance of noncoding variants in the etiopathogenesis of the disease 18
TGM5 mutations impact epidermal differentiation in acral peeling skin syndrome 18
Description of a peculiar alternating ictal electroclinical pattern in a young boy with a novel SPATA5 mutation* 18
DEVELOPMENTAL AND EPILEPTIC ENCEPHALOPATHIES: FROM PRACTICE TO GENETICS 18
A novel deletion mutation involving TMEM38B in a patient with autosomal recessive osteogenesis imperfecta 18
Excess of runs of homozygosity is associated with severe cognitive impairment in intellectual disability 17
When fingers point to the diagnosis 17
Type i interferon-mediated autoinflammation due to DNase II deficiency 17
Congenital hyperinsulinism: Clinical and molecular analysis of a large Italian cohort 17
Focal congenital hyperinsulinism managed by medical treatment: A diagnostic algorithm based on molecular genetic screening 17
Familial hypogammaglobulinemia with high RTE and naïve T lymphocytes 16
Efficacy of anakinra in genetically associated recurrent pericarditis 16
"blaschkoid dyspigmentation" in a child: Don't forget fibroblast chromosomal analysis 16
Identification of a new mutation (L46P) in the human NOG gene in an Italian patient with Symphalangism syndrome 16
Conjunctival lymphangiectasia in a pediatric patient with neurofibromatosis type 1 16
Clinical and Cytometric Study of Immune Involvement in a Heterogeneous Cohort of Subjects With RASopathies and mTORopathies 16
De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature 16
Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population 16
Molecular cytogenetic characterization of 2p23.2p23.3 deletion in a child with developmental delay, hypotonia and cryptorchism 15
Infant with a big head and ‘crossed’ polysyndactyly 15
A neonate with a 'milky' blood. What can it be? 15
Myoclonic Absences and other Novel Findings in Warburg Micro Syndrome: Clinical Report of an Expanding RAB18 Phenotype 15
Totale 3.234
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Categoria #
all - tutte 12.440
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 12.440
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20225 0 0 0 0 0 0 1 0 0 2 1 1
2022/20236 2 0 1 0 0 1 0 0 0 1 0 1
2023/202411 1 0 0 1 1 0 0 0 6 0 0 2
2024/2025218 7 3 6 22 5 11 14 8 20 15 58 49
2025/20262.612 45 65 47 75 266 387 383 145 168 363 417 251
2026/2027615 161 303 151 0 0 0 0 0 0 0 0 0
Totale 3.536