IRIS
MORLEO, Manuela Anna
 Distribuzione geografica
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Continente #
EU - Europa 2.919
AS - Asia 1.265
NA - Nord America 1.080
SA - Sud America 243
AF - Africa 22
OC - Oceania 1
Totale 5.530
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Nazione #
RU - Federazione Russa 2.252
US - Stati Uniti d'America 1.055
SG - Singapore 387
CN - Cina 303
IE - Irlanda 261
IT - Italia 231
HK - Hong Kong 211
BR - Brasile 192
VN - Vietnam 144
KR - Corea 79
DE - Germania 55
IN - India 41
FR - Francia 30
JP - Giappone 27
AT - Austria 21
GB - Regno Unito 21
AR - Argentina 19
FI - Finlandia 15
EC - Ecuador 13
ID - Indonesia 13
MX - Messico 13
BD - Bangladesh 11
IQ - Iraq 11
NL - Olanda 9
CO - Colombia 8
PK - Pakistan 8
CA - Canada 7
PY - Paraguay 7
TN - Tunisia 5
ZA - Sudafrica 5
MA - Marocco 4
UZ - Uzbekistan 4
ES - Italia 3
IL - Israele 3
JO - Giordania 3
PH - Filippine 3
PL - Polonia 3
SA - Arabia Saudita 3
TR - Turchia 3
DZ - Algeria 2
EG - Egitto 2
GR - Grecia 2
LB - Libano 2
LT - Lituania 2
OM - Oman 2
PA - Panama 2
SE - Svezia 2
UA - Ucraina 2
UY - Uruguay 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AZ - Azerbaigian 1
BF - Burkina Faso 1
BG - Bulgaria 1
BN - Brunei Darussalam 1
BY - Bielorussia 1
CH - Svizzera 1
CY - Cipro 1
CZ - Repubblica Ceca 1
DO - Repubblica Dominicana 1
GH - Ghana 1
JM - Giamaica 1
LV - Lettonia 1
MY - Malesia 1
NG - Nigeria 1
NO - Norvegia 1
PE - Perù 1
PS - Palestinian Territory 1
PT - Portogallo 1
PW - Palau 1
RO - Romania 1
SI - Slovenia 1
TG - Togo 1
TH - Thailandia 1
TT - Trinidad e Tobago 1
VE - Venezuela 1
Totale 5.530
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Città #
Moscow 803
Dublin 259
Hong Kong 208
Santa Clara 207
Singapore 185
San Jose 132
Chandler 125
Seoul 78
Ashburn 74
Hefei 67
Naples 62
Beijing 56
Ho Chi Minh City 47
Aversa 35
Cambridge 30
Hanoi 30
Redmond 29
Princeton 28
Roxbury 28
Bengaluru 26
Boardman 23
São Paulo 18
Dallas 17
Nuremberg 16
Los Angeles 15
Frankfurt am Main 14
Rome 14
Da Nang 12
New York 12
Vienna 12
Haiphong 10
Milan 10
Des Moines 9
Lappeenranta 8
Helsinki 7
The Dalles 7
Wilmington 7
Amsterdam 6
Atlanta 6
Falkenstein 6
Munich 6
Reims 6
Bremen 5
Guayaquil 5
Jakarta 5
Laives 5
London 5
Rio de Janeiro 5
Soriano nel Cimino 5
Tianjin 5
Città di Castello 4
Council Bluffs 4
Curitiba 4
Dhaka 4
Guangzhou 4
Itaquaquecetuba 4
Piscataway 4
Tokyo 4
Viterbo 4
Amman 3
Biên Hòa 3
Bologna 3
Buenos Aires 3
Coatesville 3
Erbil 3
Jeddah 3
Menlo Park 3
Mumbai 3
Osasco 3
Ourinhos 3
Palmi 3
Paris 3
Parma 3
Porto Torres 3
Quito 3
Salvador 3
San Francisco 3
San Giovanni Rotondo 3
San Nicola la Strada 3
Santarém 3
Shenzhen 3
São José 3
Tashkent 3
Thái Nguyên 3
Tunis 3
Afragola 2
Arquata Scrivia 2
Asunción 2
Avellino 2
Barranquilla 2
Belo Horizonte 2
Bexley 2
Brooklyn 2
Bắc Giang 2
Cagliari 2
Campo Novo do Parecis 2
Castellammare di Stabia 2
Changsha 2
Chennai 2
Chicago 2
Totale 2.934
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Nome #
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy 221
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 171
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 138
An interconnected data infrastructure to support large-scale rare disease research 136
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms 133
Correction: Solving unsolved rare neurological diseases—a Solve-RD viewpoint (European Journal of Human Genetics, (2021), 29, 9, (1332-1336), 10.1038/s41431-021-00901-1) 132
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 131
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 128
ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy 126
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome 120
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators 120
De novo variants in ATP2B1 lead to neurodevelopmental delay 119
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 117
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 116
A network-based approach to dissect the cilia/centrosome complex interactome 115
Crosstalk between cilia and autophagy: implication for human diseases 114
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance 113
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 112
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 112
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase 106
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis 104
A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant 104
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 99
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases 98
Solving unsolved rare neurological diseases—a Solve-RD viewpoint 98
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies 98
Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay 98
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes 97
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia 92
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype 91
Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease 87
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome 87
OFD Type I syndrome: lessons learned from a rare ciliopathy 85
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 84
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes 83
Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders 83
Disruption of the IQSEC2 transcript in a female with X;autosome translocation t(X;20)(p11.2;q11.2) and a phenotype resembling X-linked infantile spasms (ISSX) syndrome 80
Regulation of autophagosome biogenesis by OFD1-mediated selective autophagy 80
The OFD1 protein is a novel player in selective autophagy: another tile to the cilia/autophagy puzzle 78
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes 77
Proteome balance in ciliopathies: the OFD1 protein example 76
Targeting the MITF/APAF-1 axis as salvage therapy for MAPK inhibitors in resistant melanoma 76
A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly 73
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review 73
Molecular characterization of the human PLC ß1 gene 73
The role of OFD1 in selective autophagy 71
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 70
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 1 69
Terminal Osseous Dysplasia with Pigmentary Defects: clinical description of a new family 69
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic and molecular characterization of 11 cases 68
The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylation 67
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis 65
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe) 64
HDAC6-dependent ciliophagy is involved in ciliary loss and cholangiocarcinoma growth in human cells and murine models 59
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 59
The Autophagy-Cilia Axis: An Intricate Relationship 59
The deubiquitinating enzyme Usp14 controls ciliogenesis and Hedgehog signaling. 57
The HOPS Complex Subunit VPS39 controls ciliogenesis through autophagy 53
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant 30
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking 17
null 13
null 1
Totale 5.645
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Categoria #
all - tutte 18.135
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 18.135
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20214 0 0 0 0 0 0 0 0 0 2 2 0
2021/2022191 0 2 0 0 4 1 53 10 6 39 16 60
2022/2023486 31 4 18 10 63 35 2 37 255 8 6 17
2023/2024244 21 12 6 17 68 6 26 15 0 6 14 53
2024/2025873 14 4 7 9 185 142 153 113 64 68 67 47
2025/20263.843 149 241 210 159 372 2.132 205 160 162 53 0 0
Totale 5.645