IRIS
MORLEO, Manuela Anna
 Distribuzione geografica
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Continente #
EU - Europa 2.921
AS - Asia 1.277
NA - Nord America 1.127
SA - Sud America 243
AF - Africa 22
OC - Oceania 1
Totale 5.591
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Nazione #
RU - Federazione Russa 2.252
US - Stati Uniti d'America 1.101
SG - Singapore 392
CN - Cina 307
IE - Irlanda 260
IT - Italia 229
HK - Hong Kong 212
BR - Brasile 192
VN - Vietnam 144
KR - Corea 79
DE - Germania 55
IN - India 41
FR - Francia 32
JP - Giappone 27
GB - Regno Unito 23
AT - Austria 21
AR - Argentina 19
FI - Finlandia 15
EC - Ecuador 13
ID - Indonesia 13
MX - Messico 13
BD - Bangladesh 12
IQ - Iraq 11
NL - Olanda 10
CA - Canada 8
CO - Colombia 8
PK - Pakistan 8
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
NP - Nepal 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 5.591
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Città #
Moscow 803
Dublin 258
Hong Kong 209
Santa Clara 208
Singapore 188
San Jose 154
Chandler 125
Ashburn 80
Seoul 78
Hefei 67
Beijing 58
Naples 54
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
New York 15
Frankfurt am Main 14
Da Nang 12
Rome 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
Chicago 3
Coatesville 3
Erbil 3
Jeddah 3
Menlo Park 3
Mumbai 3
Osasco 3
Ourinhos 3
Palmi 3
Paris 3
Parma 3
Philadelphia 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
Totale 2.963
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Nome #
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy 225
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 175
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 144
An interconnected data infrastructure to support large-scale rare disease research 138
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 135
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) 133
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 131
ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy 129
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome 123
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators 120
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 119
De novo variants in ATP2B1 lead to neurodevelopmental delay 119
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 118
A network-based approach to dissect the cilia/centrosome complex interactome 116
Crosstalk between cilia and autophagy: implication for human diseases 115
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance 114
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 113
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 112
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase 111
A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant 106
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis 104
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 100
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies 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
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 98
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype 93
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia 92
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome 88
Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease 87
OFD Type I syndrome: lessons learned from a rare ciliopathy 86
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 84
Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders 84
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes 83
Regulation of autophagosome biogenesis by OFD1-mediated selective autophagy 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 81
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes 80
The OFD1 protein is a novel player in selective autophagy: another tile to the cilia/autophagy puzzle 79
Proteome balance in ciliopathies: the OFD1 protein example 78
Targeting the MITF/APAF-1 axis as salvage therapy for MAPK inhibitors in resistant melanoma 76
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review 74
A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly 73
Molecular characterization of the human PLC ß1 gene 73
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 1 71
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
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic and molecular characterization of 11 cases 69
Terminal Osseous Dysplasia with Pigmentary Defects: clinical description of a new family 69
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis 67
The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylation 67
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 60
The Autophagy-Cilia Axis: An Intricate Relationship 60
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 59
The deubiquitinating enzyme Usp14 controls ciliogenesis and Hedgehog signaling. 58
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
null 13
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking 6
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases 4
Totale 5.709
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Categoria #
all - tutte 19.027
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 19.027
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
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
2025/20263.907 149 241 210 159 372 2.132 205 145 160 73 48 13
Totale 5.709