IRIS
MORLEO, Manuela Anna
 Distribuzione geografica
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Continente #
EU - Europa 2.812
AS - Asia 1.047
NA - Nord America 818
SA - Sud America 227
AF - Africa 14
OC - Oceania 1
Totale 4.919
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Nazione #
RU - Federazione Russa 2.202
US - Stati Uniti d'America 802
SG - Singapore 317
IE - Irlanda 258
CN - Cina 257
IT - Italia 198
HK - Hong Kong 193
BR - Brasile 178
VN - Vietnam 83
KR - Corea 79
DE - Germania 47
IN - India 33
FR - Francia 29
JP - Giappone 26
AT - Austria 21
AR - Argentina 18
FI - Finlandia 15
GB - Regno Unito 15
EC - Ecuador 13
ID - Indonesia 12
BD - Bangladesh 9
MX - Messico 8
CO - Colombia 7
IQ - Iraq 7
NL - Olanda 7
PK - Pakistan 7
PY - Paraguay 7
CA - Canada 5
UZ - Uzbekistan 4
IL - Israele 3
MA - Marocco 3
PL - Polonia 3
SA - Arabia Saudita 3
TN - Tunisia 3
TR - Turchia 3
ZA - Sudafrica 3
DZ - Algeria 2
ES - Italia 2
GR - Grecia 2
JO - Giordania 2
LB - Libano 2
PH - Filippine 2
SE - Svezia 2
UA - Ucraina 2
UY - Uruguay 2
AL - Albania 1
AZ - Azerbaigian 1
BF - Burkina Faso 1
BG - Bulgaria 1
BN - Brunei Darussalam 1
BY - Bielorussia 1
CZ - Repubblica Ceca 1
EG - Egitto 1
JM - Giamaica 1
LT - Lituania 1
LV - Lettonia 1
NO - Norvegia 1
OM - Oman 1
PA - Panama 1
PE - Perù 1
PS - Palestinian Territory 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 4.919
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Città #
Moscow 780
Dublin 256
Santa Clara 206
Hong Kong 192
Singapore 132
Chandler 125
Seoul 78
Hefei 67
Beijing 50
Naples 50
Aversa 35
Ashburn 33
Cambridge 30
Redmond 29
Ho Chi Minh City 28
Princeton 28
Roxbury 28
Bengaluru 26
Boardman 23
Hanoi 20
Nuremberg 16
Dallas 15
São Paulo 15
Vienna 12
Rome 10
Des Moines 9
Los Angeles 9
New York 9
Frankfurt am Main 8
Lappeenranta 8
Milan 8
Haiphong 7
Helsinki 7
The Dalles 7
Wilmington 7
Munich 6
Reims 6
Bremen 5
Da Nang 5
Falkenstein 5
Guayaquil 5
Jakarta 5
Laives 5
Rio de Janeiro 5
Soriano nel Cimino 5
Tianjin 5
Amsterdam 4
Città di Castello 4
Dhaka 4
Guangzhou 4
Piscataway 4
Viterbo 4
Buenos Aires 3
Coatesville 3
Curitiba 3
Itaquaquecetuba 3
Jeddah 3
London 3
Menlo Park 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
São José 3
Tashkent 3
Thái Nguyên 3
Tokyo 3
Afragola 2
Amman 2
Arquata Scrivia 2
Asunción 2
Atlanta 2
Avellino 2
Barranquilla 2
Belo Horizonte 2
Bexley 2
Biên Hòa 2
Bologna 2
Brooklyn 2
Cagliari 2
Campo Novo do Parecis 2
Castellammare di Stabia 2
Changsha 2
Chennai 2
Chicago 2
Erbil 2
Ferno 2
Guadalupe 2
Guarujá 2
Guarulhos 2
Hangzhou 2
Huế 2
Totale 2.563
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Nome #
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy 202
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 154
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 117
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms 117
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 117
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) 116
An interconnected data infrastructure to support large-scale rare disease research 114
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 113
De novo variants in ATP2B1 lead to neurodevelopmental delay 112
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome 111
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators 111
ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy 110
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 105
A network-based approach to dissect the cilia/centrosome complex interactome 105
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 99
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 99
Crosstalk between cilia and autophagy: implication for human diseases 98
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance 98
A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant 97
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 96
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies 91
Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay 91
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases 90
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase 90
Solving unsolved rare neurological diseases—a Solve-RD viewpoint 89
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis 89
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes 89
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia 84
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 83
Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease 83
OFD Type I syndrome: lessons learned from a rare ciliopathy 82
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome 79
Regulation of autophagosome biogenesis by OFD1-mediated selective autophagy 78
Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders 77
The OFD1 protein is a novel player in selective autophagy: another tile to the cilia/autophagy puzzle 75
Targeting the MITF/APAF-1 axis as salvage therapy for MAPK inhibitors in resistant melanoma 74
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 73
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes 72
Proteome balance in ciliopathies: the OFD1 protein example 71
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 71
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype 70
Molecular characterization of the human PLC ß1 gene 69
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes 67
A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly 66
The role of OFD1 in selective autophagy 66
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic and molecular characterization of 11 cases 64
Terminal Osseous Dysplasia with Pigmentary Defects: clinical description of a new family 64
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 62
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review 61
The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylation 60
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis 57
The Autophagy-Cilia Axis: An Intricate Relationship 55
The deubiquitinating enzyme Usp14 controls ciliogenesis and Hedgehog signaling. 54
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe) 54
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 53
HDAC6-dependent ciliophagy is involved in ciliary loss and cholangiocarcinoma growth in human cells and murine models 52
The HOPS Complex Subunit VPS39 controls ciliogenesis through autophagy 49
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 1 47
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant 28
null 13
Totale 5.033
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Categoria #
all - tutte 16.941
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 16.941
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/20218 0 0 0 0 0 0 0 2 2 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
2025/20263.231 149 241 210 159 372 2.100 0 0 0 0 0 0
Totale 5.033