IRIS
MORLEO, Manuela Anna
 Distribuzione geografica
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Continente #
NA - Nord America 462
EU - Europa 399
AS - Asia 63
SA - Sud America 4
Totale 928
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Nazione #
US - Stati Uniti d'America 462
IE - Irlanda 268
IT - Italia 93
SG - Singapore 45
FR - Francia 10
DE - Germania 9
FI - Finlandia 8
CN - Cina 6
GB - Regno Unito 5
PK - Pakistan 5
KR - Corea 4
NL - Olanda 3
CO - Colombia 2
GR - Grecia 2
HK - Hong Kong 2
PE - Perù 2
IL - Israele 1
SE - Svezia 1
Totale 928
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Città #
Dublin 266
Chandler 133
Cambridge 31
Princeton 29
Redmond 29
Roxbury 29
Boardman 26
Singapore 26
Naples 24
Des Moines 10
Lappeenranta 7
Wilmington 7
Beijing 6
Reims 6
Rome 6
Aversa 5
Bremen 5
Milan 5
Ashburn 4
Città di Castello 4
New York 4
Seoul 4
Menlo Park 3
Porto Torres 3
San Giovanni Rotondo 3
San Nicola la Strada 3
Afragola 2
Amsterdam 2
Arquata Scrivia 2
Barranquilla 2
Cagliari 2
Hong Kong 2
Lima 2
Munich 2
Reggio Calabria 2
Santa Maria Capua Vetere 2
Strasbourg 2
Teverola 2
Tricase 2
Ann Arbor 1
Borås 1
Boydton 1
Caserta 1
Giugliano in Campania 1
Helsinki 1
Lipomo 1
Livorno 1
Los Angeles 1
Mercato San Severino 1
Nocera Umbra 1
Nola 1
Norwalk 1
Paris 1
Pozzuoli 1
Salerno 1
Santa Clara 1
Secaucus 1
Tel Aviv 1
Torre Annunziata 1
Trevi nel Lazio 1
Wageningen 1
Washington 1
Totale 727
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Nome #
Patients with DeSanto-Shinawi syndrome: Further extension of phenotype from Italy 63
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 56
De novo variants in ATP2B1 lead to neurodevelopmental delay 45
Autophagy is involved in ciliary loss and malignancy in cholangiocarcinoma in human cells and murine models 37
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance 36
Identification of an Identical de Novo SCAMP5 Missense Variant in Four Unrelated Patients With Seizures and Severe Neurodevelopmental Delay 36
Fifteen years of research on oral-facial-digital syndromes: from 1 to 16 causal genes 34
Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss 34
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) 34
An organelle-specific protein landscape identifies novel diseases and molecular mechanisms 33
A network-based approach to dissect the cilia/centrosome complex interactome 33
Mutations in COX7B Cause Microphthalmia with Linear Skin Lesions, an Unconventional Mitochondrial Disease 32
Dosage compensation of the mammalian X chromosome influences the phenotypic variability of X-linked dominant male-lethal disorders 32
OFD Type I syndrome: lessons learned from a rare ciliopathy 30
Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome 30
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia 30
A ZFYVE19 gene mutation associated with neonatal cholestasis and cilia dysfunction: case report with a novel pathogenic variant 27
The OFD1 protein is a novel player in selective autophagy: another tile to the cilia/autophagy puzzle 26
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 25
Molecular characterization of the human PLC ß1 gene 24
Mutations of the mitochondrial holocytochrome c-type synthase in X-linked dominant microphthalmia with linear skin defects syndrome 24
Ciliopathy proteins regulate paracrine signaling by modulating proteasomal degradation of mediators 23
Microphthalmia with linear skin defects (MLS) syndrome: clinical, cytogenetic and molecular characterization of 11 cases 20
ATP6V0C variants impair vacuolar V-ATPase causing a neurodevelopmental disorder often associated with epilepsy 18
Regulation of autophagosome biogenesis by OFD1-mediated selective autophagy 17
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing 16
The Autophagy-Cilia Axis: An Intricate Relationship 16
Crosstalk between cilia and autophagy: implication for human diseases 15
The TBC1D31/praja2 complex controls primary ciliogenesis through PKA-directed OFD1 ubiquitylation 15
The deubiquitinating enzyme Usp14 controls ciliogenesis and Hedgehog signaling. 15
Terminal Osseous Dysplasia with Pigmentary Defects: clinical description of a new family 15
The role of OFD1 in selective autophagy 14
The HOPS Complex Subunit VPS39 controls ciliogenesis through autophagy 14
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling 13
Targeting the MITF/APAF-1 axis as salvage therapy for MAPK inhibitors in resistant melanoma 12
Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14 12
Pathogenic variants in SOX11 mimicking Pitt-Hopkins syndrome phenotype 11
Proteome balance in ciliopathies: the OFD1 protein example 10
Twist exome capture allows for lower average sequence coverage in clinical exome sequencing 9
CERT1 mutations perturb human development by disrupting sphingolipid homeostasis 6
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features 4
Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes 4
Bi-allelic variants in CELSR3 are implicated in central nervous system and urinary tract anomalies 3
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase 2
Snijders Blok-Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review 2
Model matchmaking via the Solve-RD Rare Disease Models & Mechanisms Network (RDMM-Europe) 2
Totale 1.009
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Categoria #
all - tutte 6.675
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 6.675
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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
2021/2022196 0 2 0 0 4 1 54 10 6 40 17 62
2022/2023515 32 4 19 10 66 36 2 42 269 8 9 18
2023/2024271 24 14 8 19 75 10 27 15 0 6 15 58
2024/202519 14 5 0 0 0 0 0 0 0 0 0 0
Totale 1.009