IRIS
BRANCATI, FRANCESCO
 Distribuzione geografica
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Continente #
NA - Nord America 9.137
EU - Europa 5.859
AS - Asia 3.933
SA - Sud America 578
Continente sconosciuto - Info sul continente non disponibili 206
AF - Africa 64
OC - Oceania 2
Totale 19.779
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Nazione #
US - Stati Uniti d'America 8.928
SG - Singapore 1.635
SE - Svezia 1.221
IT - Italia 1.113
IE - Irlanda 963
CN - Cina 823
RU - Federazione Russa 820
DE - Germania 667
HK - Hong Kong 555
BR - Brasile 473
VN - Vietnam 377
UA - Ucraina 276
TR - Turchia 271
GB - Regno Unito 257
FR - Francia 202
FI - Finlandia 157
CA - Canada 102
IN - India 68
BD - Bangladesh 59
NL - Olanda 36
AR - Argentina 31
PL - Polonia 30
ES - Italia 27
MX - Messico 24
EC - Ecuador 22
JP - Giappone 22
AT - Austria 21
BE - Belgio 20
IQ - Iraq 19
CO - Colombia 18
CR - Costa Rica 18
JM - Giamaica 18
ZA - Sudafrica 17
CZ - Repubblica Ceca 14
ID - Indonesia 12
TN - Tunisia 12
NI - Nicaragua 11
PH - Filippine 11
MA - Marocco 10
PK - Pakistan 9
TT - Trinidad e Tobago 9
HN - Honduras 8
SA - Arabia Saudita 8
VE - Venezuela 8
CL - Cile 7
LT - Lituania 7
PE - Perù 7
PY - Paraguay 7
UZ - Uzbekistan 7
EE - Estonia 6
JO - Giordania 6
KZ - Kazakistan 6
DZ - Algeria 5
GT - Guatemala 5
KE - Kenya 5
KR - Corea 5
MY - Malesia 5
NP - Nepal 5
PR - Porto Rico 5
AE - Emirati Arabi Uniti 4
TW - Taiwan 4
EG - Egitto 3
NO - Norvegia 3
OM - Oman 3
SV - El Salvador 3
TH - Thailandia 3
UY - Uruguay 3
AU - Australia 2
BA - Bosnia-Erzegovina 2
BH - Bahrain 2
BN - Brunei Darussalam 2
BO - Bolivia 2
CY - Cipro 2
DO - Repubblica Dominicana 2
ET - Etiopia 2
IL - Israele 2
MD - Moldavia 2
PT - Portogallo 2
RO - Romania 2
RS - Serbia 2
SN - Senegal 2
TL - Timor Orientale 2
AL - Albania 1
AZ - Azerbaigian 1
BB - Barbados 1
BG - Bulgaria 1
BJ - Benin 1
CG - Congo 1
CH - Svizzera 1
CI - Costa d'Avorio 1
CW - ???statistics.table.value.countryCode.CW??? 1
DK - Danimarca 1
GD - Grenada 1
GP - Guadalupe 1
GR - Grecia 1
HU - Ungheria 1
IR - Iran 1
KW - Kuwait 1
LB - Libano 1
MK - Macedonia 1
Totale 19.564
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Città #
Jacksonville 1.093
San Jose 966
Dublin 950
Singapore 853
Chandler 844
Ashburn 707
Dallas 707
Hong Kong 545
Council Bluffs 459
Santa Clara 394
Boardman 305
New York 299
The Dalles 263
Nanjing 238
Izmir 235
Munich 219
Milan 190
Lawrence 156
Princeton 155
Moscow 130
Ho Chi Minh City 129
Wilmington 128
L’Aquila 126
San Mateo 120
Helsinki 112
Lauterbourg 109
Beijing 106
Bremen 94
Los Angeles 85
Hanoi 81
Rome 77
Ann Arbor 63
São Paulo 60
Woodbridge 60
L'aquila 58
Columbus 56
Nanchang 56
Verona 41
Naples 40
Miano 37
Las Vegas 35
Hebei 34
Mumbai 34
Shenyang 30
Dearborn 28
Kunming 28
Mountain View 28
Phoenix 28
Brooklyn 27
Frankfurt am Main 25
Orem 25
Warsaw 25
Atlanta 24
Denver 24
Tianjin 24
Montreal 23
Jiaxing 22
Shanghai 22
Chicago 21
Florence 21
Brussels 20
Tokyo 19
Toronto 18
Turku 18
Da Nang 16
Falls Church 16
Hefei 16
Bari 15
Boston 15
Lanzhou 15
Stockholm 15
Bologna 14
Changsha 14
Des Moines 14
Kingston 14
Lappeenranta 14
Newark 14
North Bergen 14
Norwalk 14
Turin 14
Belo Horizonte 13
Haiphong 13
London 13
Rio de Janeiro 13
Pescara 12
San Francisco 12
San José 12
Amsterdam 11
Curitiba 11
Houston 11
Managua 11
Perugia 11
Vienna 11
Baghdad 10
Brasília 10
Brno 10
Changchun 10
Chennai 10
Dong Ket 10
Ottawa 10
Totale 12.407
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Nome #
Ultra-rare RTEL1 gene variants associate with acute severity of COVID-19 and evolution to pulmonary fibrosis as a specific long COVID disorder 322
Host genetics and COVID-19 severity: increasing the accuracy of latest severity scores by Boolean quantum features 311
BRCA genetic result disclosure for women with Breast Cancer: influence of +/- predisposition genetic mutation 232
A genome-wide association study for survival from a multi-centre European study identified variants associated with COVID-19 risk of death 185
A Small Supernumerary Marker Derived from the Pericentromeric Region of Chromosome 5: Case Report and Delineation of Partial Trisomy 5p Phenotype 185
Formation of new chromatin domains determines pathogenicity of genomic duplications 167
Truncating variants in the penultimate exon of TGFBR1 escaping nonsense-mediated mRNA decay cause Loeys-Dietz syndrome 155
Brugada Syndrome in Sports Cardiology: An Expert Opinion Statement of the Italian Society of Sports Cardiology (SICSport) 153
Comprehensive Evaluation of Plasma 7-Ketocholesterol and Cholestan-3β,5α,6β-Triol in an Italian Cohort of Patients Affected by Niemann-Pick Disease due to NPC1 and SMPD1 Mutations 147
Mutational spectrum and clinical signatures in 114 families with hereditary multiple osteochondromas: insights into molecular properties of selected exostosin variants 143
Common, low-frequency, rare, and ultra-rare coding variants contribute to COVID-19 severity 139
Cardiological Manifestations in Males and Females Affected by NAA10‐Related Disease 138
Joubert Syndrome and related disorders. 136
RIPK4 regulates cell-cell adhesion in epidermal development and homeostasis 136
Joubert syndrome with bilateral polymicrogyria: clinical and neuropathological findings in two brothers. 135
RPGRIP1L mutations are mainly associated with the cerebello-renal phenotype of Joubert syndrome-related disorders 131
A 6-year-old child with Fryns syndrome: further delineation of the natural history of the condition in survivors. 130
A novel family with an unusual early onset generalized dystonia. 129
Barber-Say Syndrome and Ablepharon-Macrostomia Syndrome: A Patient's View 129
KBG syndrome in a cohort of Italian patients. 129
Gain- and Loss-of-Function CFTR Alleles Are Associated with COVID-19 Clinical Outcomes 128
Assessment of the retinal posterior pole in dominant optic atrophy by spectral-domain optical coherence tomography and microperimetry 126
The Glu331del mutation in the CYP17A1 gene causes atypical congenital adrenal hyperplasia in a 46,XX female 126
Reticulate vascular lesions and a large head. 125
Membranous Nectin-4 expression is a risk factor for distant relapse of T1-T2, N0 luminal-A early breast cancer 125
CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. 124
Correction to: Left Ventricular Non-Compaction, Atrial Fibrillation and ANK2 Mutation in a Young Athlete 123
Occurrence of multiple melanomas in a patient with punctate palmoplantar keratoderma type-1A associated to alpha and gamma adaptin binding protein 123
Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome 123
Antenatal presentation of the oculo-auriculo-vertebral spectrum (OAVS). 123
A single strand conformation polymorphism-based carrier test for spinal muscular atrophy. 123
H2AFY promoter deletion causes PITX1 endoactivation and Liebenberg syndrome 122
The phenotypic and genotypic spectrum of individuals with mono‐ or biallelic ANK3 variants 121
CEP290 mutations are frequently identified in the oculo-renal form of Joubert syndrome-related disorders. 121
Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI. 120
Improving diagnosis for rare diseases: The experience of the Italian undiagnosed Rare diseases network 120
Perceived cancer risk and genetic counseling: A biopsychological perspective 119
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene. 119
Absence of correlation between BMP-4 polymorphism and postmenopausal osteoporosis in Italian women. 119
De Barsy Syndrome: A genetically heterogeneous autosomal recessive cutis laxa syndrome related to P5CS and PYCR1 dysfunction. 119
Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia. 119
KBG syndrome 117
Evolutionarily assembled cis-regulatory module at a human ciliopathy locus. 117
Prostaglandin transporter mutations cause pachydermoperiostosis with myelofibrosis. 117
Diffusion tensor imaging in Joubert syndrome 117
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy 117
Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss. 116
Autosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14. 116
Mutations in CKAP2L, the human homolog of the mouse radmis gene, cause filippi syndrome 116
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. 116
Ablepharon macrostomia syndrome: A distinct genetic entity clinically related to the group of FRAS-FREM complex disorders 116
First and second branchial arch involvement in mandibulofacial dysostosis Guion-Almeida type 115
A family study on primary blepharospasm. 115
Genotypes and phenotypes of Joubert syndrome and related disorders 115
A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay 115
Gerodermia osteodysplastica is caused by mutations in SCYL1BP1, a Rab-6 interacting golgin 114
Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. 114
Ablepharon-macrostomia syndrome in a 46-year-old woman. 114
AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders. 114
Measles skin rash: Infection of lymphoid and myeloid cells in the dermis precedes viral dissemination to the epidermis 114
Parkes Weber syndrome, vein of Galen aneurysmal malformation, and other fast-flow vascular anomalies are caused by RASA1 mutations 113
Rare variants in Toll-like receptor 7 results in functional impairment and downregulation of cytokine-mediated signaling in COVID-19 patients 113
Uniparental disomy of chromosome 1 unmasks recessive mutations of PPT1 in a boy with neuronal ceroid lipofuscinosis type 1 112
Mutations in the CEP290 gene, encoding a centrosomal protein, cause pleiotropic forms of Joubert Syndrome. 112
An explainable model of host genetic interactions linked to COVID-19 severity 112
Patient perspective in perceived comparative genetic mutation risk: An exploratory review 111
Characterization of ANKRD11 mutations in humans and mice related to KBG syndrome 111
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia. 111
Mutations in PYCR1 cause cutis laxa with progeroid features. 111
Normal cognitive functions in joubert syndrome. 111
Mutations in INPP5E, encoding inositol polyphosphate-5-phosphatase E, link phosphatidyl inositol signaling to the ciliopathies. 111
Delineation of MidXq28-Duplication Syndrome Distal to MECP2 and Proximal to RAB39B genes 111
A novel patient with Cooks syndrome supports splitting from "classic" brachydactyly type B. 110
MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert syndrome related disorder with liver involvement 110
Pathogenic variants in CDH11 impair cell adhesion and cause Teebi hypertelorism syndrome 110
The Birt-Hogg-Dubé Syndrome: A Clinical Diagnostic Challenge 109
Unbiased next generation sequencing analysis confirms the existence of autosomal dominant Alport syndrome in a relevant fraction of cases. 109
Copy-number variations involving the IHH locus are associated with syndactyly and craniosynostosis. 109
A locus for autosomal dominant keratoconus maps to human chromosome 3p14-q13. 109
Clinical and genetic studies in hereditary spastic paraplegia with thin corpus callosum. 109
Keratoderma-Deafness-Mucocutaneous Syndrome Associated with Phe142Leu in the GJB2 Gene 109
Abnormal neuronal migration defect in the severe variant subtype of Adams-Oliver syndrome 108
Subclinical sensory abnormalities in unaffected PINK1 heterozygotes 108
PARK6-linked parkinsonism occurs in several European families. 107
PARK6 is a common cause of familial parkinsonism. 107
Mutations in PVRL4, encoding cell adhesion molecule nectin-4, cause ectodermal dysplasia-syndactyly syndrome. 107
Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy 107
Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. 106
p63-dependent and independent mechanisms of nectin-1 and nectin-4 regulation in the epidermis 106
A Novel LIPE Nonsense Mutation Found Using Exome Sequencing in Siblings With Late-Onset Familial PartialLipodystrophy 106
Carriers of ADAMTS13 Rare Variants Are at High Risk of Life-Threatening COVID-19 106
De Novo 13q13.3-21.31 deletion involving RB1 gene in a patient with hemangioendothelioma of the liver 105
Assessing the role of DRD5 and DYT1 in two different case-control series with primary blepharospasm. 104
The TOR1A polymorphism rs1182 and the risk of spread in primary blepharospasm. 104
Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome. 104
Homeotic Arm-to-Leg Transformation Associated with Genomic Rearrangements at the PITX1 Locus. 104
Putaminal, but not nigral alterations, characterize hemiparkinsonism-hemiatrophy syndrome: a case report. 103
PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum 103
AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. 103
Clinical, neuropsychological, neurophysiologic, and genetic features of a new Italian pedigree with familial cortical myoclonic tremor with epilepsy. 103
Totale 12.419
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Categoria #
all - tutte 83.270
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 83.270
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022562 0 0 0 107 15 11 13 70 55 6 62 223
2022/20232.662 187 87 32 247 368 219 11 167 1.208 17 71 48
2023/2024588 108 49 35 24 45 190 10 50 7 25 12 33
2024/20253.333 43 37 389 94 335 402 508 318 654 204 197 152
2025/20265.663 210 567 532 665 460 369 1.008 246 506 591 414 95
2026/20272.484 183 318 542 1.441 0 0 0 0 0 0 0 0
Totale 19.779