IRIS
MORLEO, Manuela Anna
 Distribuzione geografica
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Continente #
EU - Europa 3.070
NA - Nord America 1.678
AS - Asia 1.299
SA - Sud America 250
Continente sconosciuto - Info sul continente non disponibili 120
AF - Africa 24
OC - Oceania 1
Totale 6.442
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Nazione #
RU - Federazione Russa 2.252
US - Stati Uniti d'America 1.634
SG - Singapore 396
IT - Italia 362
CN - Cina 312
IE - Irlanda 260
HK - Hong Kong 216
BR - Brasile 195
VN - Vietnam 144
KR - Corea 79
DE - Germania 55
IN - India 42
FR - Francia 34
GB - Regno Unito 31
JP - Giappone 27
AT - Austria 21
AR - Argentina 20
BD - Bangladesh 20
FI - Finlandia 15
CA - Canada 14
EC - Ecuador 13
ID - Indonesia 13
MX - Messico 13
IQ - Iraq 11
NL - Olanda 10
CO - Colombia 9
PK - Pakistan 8
PY - Paraguay 7
PL - Polonia 5
TN - Tunisia 5
ZA - Sudafrica 5
JM - Giamaica 4
MA - Marocco 4
UZ - Uzbekistan 4
CH - Svizzera 3
CR - Costa Rica 3
ES - Italia 3
IL - Israele 3
JO - Giordania 3
PH - Filippine 3
SA - Arabia Saudita 3
SE - Svezia 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
RO - Romania 2
TT - Trinidad e Tobago 2
UA - Ucraina 2
UY - Uruguay 2
VE - Venezuela 2
AE - Emirati Arabi Uniti 1
AL - Albania 1
AZ - Azerbaigian 1
BB - Barbados 1
BF - Burkina Faso 1
BG - Bulgaria 1
BN - Brunei Darussalam 1
BY - Bielorussia 1
CI - Costa d'Avorio 1
CL - Cile 1
CY - Cipro 1
CZ - Repubblica Ceca 1
DO - Repubblica Dominicana 1
GH - Ghana 1
GT - Guatemala 1
LV - Lettonia 1
MY - Malesia 1
NG - Nigeria 1
NI - Nicaragua 1
NO - Norvegia 1
NP - Nepal 1
PE - Perù 1
PR - Porto Rico 1
PS - Palestinian Territory 1
PT - Portogallo 1
PW - Palau 1
SC - Seychelles 1
SI - Slovenia 1
SV - El Salvador 1
TG - Togo 1
TH - Thailandia 1
Totale 6.322
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Città #
Moscow 803
Dublin 258
Santa Clara 219
Hong Kong 213
San Jose 211
Singapore 188
Ashburn 173
Council Bluffs 132
Chandler 125
Seoul 78
Hefei 67
Beijing 60
Naples 60
Milan 52
Ho Chi Minh City 47
Aversa 36
Cambridge 30
Hanoi 30
Redmond 30
Princeton 28
Roxbury 28
Bengaluru 26
Boardman 23
Dallas 22
New York 22
Rome 22
Los Angeles 19
São Paulo 18
Nuremberg 16
Frankfurt am Main 14
Da Nang 12
Vienna 12
Atlanta 10
Haiphong 10
Miano 10
Des Moines 9
Florence 8
Lappeenranta 8
Wilmington 8
Denver 7
Helsinki 7
San Francisco 7
The Dalles 7
Amsterdam 6
Brooklyn 6
Falkenstein 6
Munich 6
Phoenix 6
Reims 6
Bremen 5
Chicago 5
Guayaquil 5
Jakarta 5
Laives 5
London 5
Philadelphia 5
Piscataway 5
Rio de Janeiro 5
Soriano nel Cimino 5
Tianjin 5
Turin 5
Bologna 4
Città di Castello 4
Curitiba 4
Dhaka 4
Guangzhou 4
Itaquaquecetuba 4
Tokyo 4
Viterbo 4
Afragola 3
Amman 3
Biên Hòa 3
Brasília 3
Buenos Aires 3
Coatesville 3
Erbil 3
Jacksonville 3
Jeddah 3
Menlo Park 3
Montreal 3
Mumbai 3
Osasco 3
Ourinhos 3
Palmi 3
Paris 3
Parma 3
Porto Torres 3
Quito 3
Richmond 3
Salvador 3
San Giovanni Rotondo 3
San José 3
San Nicola la Strada 3
Santarém 3
Shenzhen 3
São José 3
Tashkent 3
Thái Nguyên 3
Tunis 3
Warsaw 3
Totale 3.386
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Nome #
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy 243
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 188
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 159
An interconnected data infrastructure to support large-scale rare disease research 154
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 151
ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy 145
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase 144
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 143
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) 143
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms 141
Nanopore Sequencing Solves an Elusive Case of Sotos Syndrome 137
Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses 137
De novo variants in ATP2B1 lead to neurodevelopmental delay 128
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 127
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators 127
A network-based approach to dissect the cilia/centrosome complex interactome 125
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 123
Crosstalk between cilia and autophagy: implication for human diseases 123
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance 123
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis 121
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 120
Solving patients with rare diseases through programmatic reanalysis of genome-phenome data 113
Solve-RD: systematic pan-European data sharing and collaborative analysis to solve rare diseases 112
Solving unsolved rare neurological diseases—a Solve-RD viewpoint 111
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies 111
A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant 111
Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay 109
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes 106
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype 102
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia 100
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome 98
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 96
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review 96
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes 95
Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease 95
Reanalysis of Undiagnosed Neurodevelopmental Disorder Cases: From RNU4-2 Variants to Clinical Phenotypes 94
Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders 94
OFD Type I syndrome: lessons learned from a rare ciliopathy 92
Proteome balance in ciliopathies: the OFD1 protein example 90
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 90
Regulation of autophagosome biogenesis by OFD1-mediated selective autophagy 90
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 1 89
A Further Case Supporting PDCD6IP as the Gene Responsible for a Neurodevelopmental Disorder With Microcephaly 87
Targeting the MITF/APAF-1 axis as salvage therapy for MAPK inhibitors in resistant melanoma 84
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 84
The OFD1 protein is a novel player in selective autophagy: another tile to the cilia/autophagy puzzle 84
BCL11A intellectual developmental disorder: defining the clinical spectrum and genotype-phenotype correlations 82
The role of OFD1 in selective autophagy 81
Molecular characterization of the human PLC ß1 gene 80
A MT-TL1 variant identified by whole exome sequencing in an individual with intellectual disability, epilepsy, and spastic tetraparesis 77
Terminal Osseous Dysplasia with Pigmentary Defects: clinical description of a new family 77
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic and molecular characterization of 11 cases 75
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe) 75
The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylation 73
HDAC6-dependent ciliophagy is involved in ciliary loss and cholangiocarcinoma growth in human cells and murine models 71
The deubiquitinating enzyme Usp14 controls ciliogenesis and Hedgehog signaling. 67
The Autophagy-Cilia Axis: An Intricate Relationship 66
The HOPS Complex Subunit VPS39 controls ciliogenesis through autophagy 60
Genome-wide variant calling in reanalysis of exome sequencing data uncovered a pathogenic TUBB3 variant 44
Telethon Undiagnosed Disease Program: Structured approach to solving rare childhood-onset genetic diseases 28
Bi-allelic loss-of-function variants in JKAMP cause a neurodevelopmental syndrome associated with dysregulation of GPR37 trafficking 25
35 Individuals With HUWE1-Related Neurodevelopmental Disorder and Suggested Clinical Evaluations 13
null 13
Totale 6.442
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Categoria #
all - tutte 22.194
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 22.194
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/2022189 0 0 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
2025/20263.941 149 241 210 159 372 2.132 205 145 160 73 48 47
2026/2027699 35 74 322 268 0 0 0 0 0 0 0 0
Totale 6.442