IRIS
MORLEO, Manuela Anna
 Distribuzione geografica
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Continente #
EU - Europa 1.289
AS - Asia 1.005
NA - Nord America 816
SA - Sud America 215
AF - Africa 13
OC - Oceania 1
Totale 3.339
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Nazione #
US - Stati Uniti d'America 800
RU - Federazione Russa 682
SG - Singapore 306
IE - Irlanda 258
CN - Cina 256
IT - Italia 198
HK - Hong Kong 190
BR - Brasile 169
KR - Corea 79
VN - Vietnam 64
DE - Germania 47
IN - India 32
FR - Francia 26
JP - Giappone 26
AT - Austria 21
AR - Argentina 17
FI - Finlandia 15
GB - Regno Unito 15
ID - Indonesia 12
EC - Ecuador 11
BD - Bangladesh 9
MX - Messico 8
CO - Colombia 7
NL - Olanda 7
PY - Paraguay 7
PK - Pakistan 6
CA - Canada 5
IQ - Iraq 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
ES - Italia 2
GR - Grecia 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
DZ - Algeria 1
EG - Egitto 1
JM - Giamaica 1
JO - Giordania 1
LT - Lituania 1
LV - Lettonia 1
NO - Norvegia 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 3.339
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Città #
Dublin 256
Moscow 240
Santa Clara 206
Hong Kong 189
Chandler 125
Singapore 121
Seoul 78
Hefei 67
Beijing 50
Naples 50
Aversa 35
Ashburn 33
Cambridge 30
Redmond 29
Princeton 28
Roxbury 28
Bengaluru 26
Boardman 23
Ho Chi Minh City 22
Hanoi 17
Nuremberg 16
Dallas 15
São Paulo 14
Vienna 12
Rome 10
Des Moines 9
New York 9
Frankfurt am Main 8
Lappeenranta 8
Los Angeles 8
Milan 8
Helsinki 7
The Dalles 7
Wilmington 7
Haiphong 6
Munich 6
Reims 6
Bremen 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
Da Nang 3
Itaquaquecetuba 3
Jeddah 3
London 3
Menlo Park 3
Osasco 3
Ourinhos 3
Palmi 3
Parma 3
Porto Torres 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
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
Istanbul 2
Itabira 2
Limeira 2
Medellín 2
Totale 1.993
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Nome #
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy 157
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 130
De novo variants in ATP2B1 lead to neurodevelopmental delay 93
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms 88
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) 85
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators 82
ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy 80
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 80
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 76
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance 76
An interconnected data infrastructure to support large-scale rare disease research 75
A network-based approach to dissect the cilia/centrosome complex interactome 74
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 73
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 73
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome 70
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 70
Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay 70
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes 70
Crosstalk between cilia and autophagy: implication for human diseases 67
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 66
A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant 66
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia 64
OFD Type I syndrome: lessons learned from a rare ciliopathy 63
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 62
Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease 60
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies 59
Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders 58
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase 57
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases 56
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis 56
Regulation of autophagosome biogenesis by OFD1-mediated selective autophagy 56
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome 56
Solving unsolved rare neurological diseases—a Solve-RD viewpoint 55
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 55
The OFD1 protein is a novel player in selective autophagy: another tile to the cilia/autophagy puzzle 55
Targeting the MITF/APAF-1 axis as salvage therapy for MAPK inhibitors in resistant melanoma 54
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 52
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes 52
Proteome balance in ciliopathies: the OFD1 protein example 51
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 50
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype 48
The role of OFD1 in selective autophagy 47
Molecular characterization of the human PLC ß1 gene 46
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic and molecular characterization of 11 cases 44
The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylation 44
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review 41
Terminal Osseous Dysplasia with Pigmentary Defects: clinical description of a new family 41
The Autophagy-Cilia Axis: An Intricate Relationship 37
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 36
The deubiquitinating enzyme Usp14 controls ciliogenesis and Hedgehog signaling. 36
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe) 34
HDAC6-dependent ciliophagy is involved in ciliary loss and cholangiocarcinoma growth in human cells and murine models 32
The HOPS Complex Subunit VPS39 controls ciliogenesis through autophagy 32
A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly 28
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes 25
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 1 24
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis 23
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 20
null 13
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant 10
Totale 3.453
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Categoria #
all - tutte 14.771
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 14.771
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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
2025/20261.651 149 241 210 159 372 520 0 0 0 0 0 0
Totale 3.453