CRIS Current Research Information System

PIPPUCCI, TOMMASO
 Distribuzione geografica
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Continente #
NA - Nord America 4.070
EU - Europa 2.822
AS - Asia 1.595
AF - Africa 156
SA - Sud America 12
OC - Oceania 3
Totale 8.658
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Nazione #
US - Stati Uniti d'America 4.055
IT - Italia 786
GB - Regno Unito 562
VN - Vietnam 548
CN - Cina 434
SE - Svezia 408
SG - Singapore 357
DE - Germania 339
IN - India 141
IE - Irlanda 126
FR - Francia 103
RU - Federazione Russa 103
UA - Ucraina 97
TG - Togo 55
FI - Finlandia 49
ZA - Sudafrica 48
JO - Giordania 47
BG - Bulgaria 46
EE - Estonia 43
CH - Svizzera 33
CI - Costa d'Avorio 28
BE - Belgio 26
PL - Polonia 23
ID - Indonesia 20
NL - Olanda 20
AT - Austria 14
NG - Nigeria 14
CA - Canada 13
BR - Brasile 10
GR - Grecia 10
UZ - Uzbekistan 10
HR - Croazia 8
IR - Iran 8
RO - Romania 8
HK - Hong Kong 7
SC - Seychelles 7
CZ - Repubblica Ceca 6
ES - Italia 6
LB - Libano 4
TR - Turchia 4
DK - Danimarca 3
EG - Egitto 3
AU - Australia 2
CL - Cile 2
JP - Giappone 2
KR - Corea 2
MY - Malesia 2
PA - Panama 2
PH - Filippine 2
AE - Emirati Arabi Uniti 1
BD - Bangladesh 1
BT - Bhutan 1
HU - Ungheria 1
LA - Repubblica Popolare Democratica del Laos 1
NZ - Nuova Zelanda 1
OM - Oman 1
PK - Pakistan 1
PT - Portogallo 1
SK - Slovacchia (Repubblica Slovacca) 1
SN - Senegal 1
TW - Taiwan 1
Totale 8.658
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Città #
Fairfield 514
Southend 478
Chandler 435
Singapore 320
Ashburn 312
Woodbridge 273
Wilmington 222
Dong Ket 220
Bologna 212
Houston 210
Seattle 207
Cambridge 182
Ann Arbor 168
Princeton 144
Santa Clara 139
Dublin 126
Boardman 97
Florence 76
Westminster 56
Lomé 55
Nanjing 52
Redmond 51
Jacksonville 50
Amman 47
Padova 46
Berlin 45
Sofia 43
Turin 42
Milan 41
New York 39
Helsinki 38
San Diego 37
Falls Church 32
Beijing 30
Abidjan 28
Jinan 28
Bern 23
Brussels 23
Warsaw 22
Los Angeles 20
Saint Petersburg 20
Changsha 19
Jakarta 19
Shenyang 19
Hebei 18
Zhengzhou 15
Mülheim 14
Nanchang 14
Shanghai 14
Abeokuta 13
Dearborn 13
Guangzhou 13
Paris 12
Parma 12
Vienna 12
Desenzano del Garda 11
Fornovo di Taro 11
Hangzhou 11
Kuban 11
Lappeenranta 11
Modena 11
Des Moines 10
Moscow 10
São Paulo 10
Tianjin 10
Verona 10
Bremen 9
Ferrara 9
Frankfurt am Main 9
Olalla 9
Amsterdam 8
Boydton 8
Xi'an 8
Bühl 7
Jiaxing 7
London 7
Mahé 7
Phoenix 7
Pisa 7
Rome 7
Casoria 6
Chengdu 6
Medford 6
Norwalk 6
Shijiazhuang 6
Toronto 6
Brescia 5
Brno 5
Calderara Di Reno 5
Falkenstein 5
Foshan 5
Haikou 5
Hong Kong 5
Kilburn 5
Ningbo 5
Pune 5
Chicago 4
Council Bluffs 4
Edinburgh 4
Frankfurt Am Main 4
Totale 5.737
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Nome #
5′UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia 211
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24. 189
BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype 187
Adult patients with intellectual disability and epilepsy: clinical and genetic study of 114 cases 179
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism 179
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies 178
LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF). 176
Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant. 175
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree. 172
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity. 168
Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31. 165
A heritable cause of cleft lip and palate - Van der Woude syndrome caused by a novel IRF6 mutation. Review of the literature and of the differential diagnosis. 157
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy 152
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype. 149
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes 148
Profile of neuropsychological impairment in Sleep-related Hypermotor Epilepsy 145
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients 140
Epilepsy with auditory features: Long-term outcome and predictors of terminal remission 139
null 139
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene 138
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. 137
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 137
Clinical and pathogenetic features of ETV6 related thrombocytopenia with predisposition to acute lymphoblastic leukemia 134
Epilepsy with auditory features: A heterogeneous clinico-molecular disease 133
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 133
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman 131
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts 131
EX-HOM (EXome-HOMozygosity): a proof of principle 129
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 129
Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction. 128
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes 127
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy 126
A new homozygous CACNB2 mutation has functional relevance and supports a role for calcium channels in autism spectrum disorder. 125
Prenatal diagnosis of Simpson–Golabi–Behmel syndrome 124
Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations 124
Epilepsy with auditory features: Contribution of known genes in 112 patients 124
SLFN14-related thrombocytopenia: Identification within a large series of patients with inherited thrombocytopenia 122
Advances in genetic testing and optimization of clinical management in children and adults with epilepsy 119
Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes. 118
EXCAVATOR: detecting copy number variants from whole-exome sequencing data. 117
AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics 116
A stereo EEG study in a patient with sleep-related hypermotor epilepsy due to DEPDC5 mutation 114
Linkage exclusion in Italian families with hereditary essential tremor. 113
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia 110
GATOR1 complex: the common genetic actor in focal epilepsies 110
DEPDC5 mutations in epilepsy with auditory features 106
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. 106
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 105
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 104
null 103
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks 103
The landscape of epilepsy-related GATOR1 variants 102
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2 95
Polygenic burden in focal and generalized epilepsies 95
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism 89
Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance 87
H3M2: detection of runs of homozygosity from whole-exome sequencing data 83
R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome 80
Identification of genes responsible for Nocturnal Frontal Lobe Epilepsy (NFLE): role of DEPDC5 mutations 79
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late 79
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction 76
null 76
Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) syndrome: is PTPN22 involved? 72
Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only 70
Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies 69
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder? 69
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis 68
Resources and tools for rare disease variant interpretation 59
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup 56
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders 51
unCOVERApp: an interactive graphical application for clinical assessment of sequence coverage at the base-pair level 49
Long read sequencing on its way to the routine diagnostics of genetic diseases 47
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy 42
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations 42
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 41
Exploration of Tools for the Interpretation of Human Non-Coding Variants 40
Distinct gene-set burden patterns underlie common generalized and focal epilepsies 39
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype 35
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 29
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome - first report of an ad hoc task force 28
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children 28
Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy 26
Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture 25
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy 15
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy 7
Totale 8.972
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Categoria #
all - tutte 24.400
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 24.400
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.225 0 0 0 0 0 182 240 240 262 123 92 86
2020/20211.291 184 75 31 36 48 34 29 102 118 87 53 494
2021/20221.695 266 45 95 101 125 89 45 104 92 144 374 215
2022/20231.794 160 246 111 203 110 125 75 124 295 84 208 53
2023/2024671 41 107 59 56 39 128 35 51 32 49 31 43
2024/20251.162 94 323 216 177 241 111 0 0 0 0 0 0
Totale 8.972