CRIS Current Research Information System

PIPPUCCI, TOMMASO
 Distribuzione geografica
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Continente #
NA - Nord America 3.684
EU - Europa 2.628
AS - Asia 1.035
AF - Africa 150
SA - Sud America 12
OC - Oceania 3
Totale 7.512
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Nazione #
US - Stati Uniti d'America 3.674
IT - Italia 659
GB - Regno Unito 555
VN - Vietnam 548
SE - Svezia 408
DE - Germania 329
CN - Cina 247
IN - India 138
IE - Irlanda 123
FR - Francia 102
UA - Ucraina 97
RU - Federazione Russa 91
TG - Togo 55
ZA - Sudafrica 48
JO - Giordania 47
BG - Bulgaria 45
EE - Estonia 43
FI - Finlandia 39
CH - Svizzera 33
BE - Belgio 24
CI - Costa d'Avorio 22
PL - Polonia 21
NG - Nigeria 14
SG - Singapore 13
NL - Olanda 11
AT - Austria 10
BR - Brasile 10
GR - Grecia 10
UZ - Uzbekistan 10
CA - Canada 9
HR - Croazia 8
RO - Romania 8
IR - Iran 7
SC - Seychelles 7
ES - Italia 6
HK - Hong Kong 5
LB - Libano 4
DK - Danimarca 3
EG - Egitto 3
AU - Australia 2
CL - Cile 2
JP - Giappone 2
MY - Malesia 2
PH - Filippine 2
TR - Turchia 2
AE - Emirati Arabi Uniti 1
BD - Bangladesh 1
BT - Bhutan 1
HU - Ungheria 1
ID - Indonesia 1
KR - Corea 1
LA - Repubblica Popolare Democratica del Laos 1
NZ - Nuova Zelanda 1
OM - Oman 1
PA - Panama 1
PK - Pakistan 1
PT - Portogallo 1
SK - Slovacchia (Repubblica Slovacca) 1
SN - Senegal 1
Totale 7.512
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Città #
Fairfield 514
Southend 478
Chandler 435
Ashburn 307
Woodbridge 273
Wilmington 222
Dong Ket 220
Houston 210
Seattle 206
Bologna 181
Cambridge 180
Ann Arbor 168
Princeton 144
Dublin 123
Florence 76
Westminster 56
Lomé 55
Redmond 51
Jacksonville 50
Nanjing 50
Amman 47
Berlin 44
Padova 43
Sofia 43
Turin 42
New York 39
San Diego 37
Falls Church 32
Milan 32
Helsinki 29
Beijing 27
Jinan 26
Bern 23
Abidjan 22
Brussels 21
Saint Petersburg 20
Warsaw 20
Shenyang 19
Hebei 18
Boardman 16
Changsha 16
Los Angeles 15
Mülheim 14
Nanchang 14
Abeokuta 13
Dearborn 13
Paris 12
Fornovo di Taro 11
Kuban 11
Des Moines 10
Lappeenranta 10
Singapore 10
São Paulo 10
Bremen 9
Olalla 9
Parma 9
Tianjin 9
Zhengzhou 9
Boydton 8
Ferrara 8
Vienna 8
Bühl 7
Frankfurt am Main 7
Hangzhou 7
Jiaxing 7
Mahé 7
Modena 7
Pisa 7
Casoria 6
Guangzhou 6
Medford 6
Norwalk 6
Amsterdam 5
Brescia 5
Calderara Di Reno 5
Haikou 5
Kilburn 5
Pune 5
Rome 5
Verona 5
Chicago 4
Council Bluffs 4
Edinburgh 4
Frankfurt Am Main 4
Hong Kong 4
Las Vegas 4
Lausanne 4
London 4
Moscow 4
Mountain View 4
Ningbo 4
Rocca Di Papa 4
San Venanzo 4
Taizhou 4
Tappahannock 4
Cairo 3
Madrid 3
Marzabotto 3
Montegaldella 3
Napoli 3
Totale 5.015
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Nome #
5′UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia 186
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24. 177
BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype 173
Adult patients with intellectual disability and epilepsy: clinical and genetic study of 114 cases 171
LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF). 170
Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant. 165
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree. 160
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism 160
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies 158
Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31. 155
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity. 153
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy 144
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. 144
null 139
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes 139
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients 133
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene 130
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 129
Profile of neuropsychological impairment in Sleep-related Hypermotor Epilepsy 128
Epilepsy with auditory features: Long-term outcome and predictors of terminal remission 126
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype. 125
EX-HOM (EXome-HOMozygosity): a proof of principle 122
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. 121
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts 120
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 120
Clinical and pathogenetic features of ETV6 related thrombocytopenia with predisposition to acute lymphoblastic leukemia 119
Epilepsy with auditory features: A heterogeneous clinico-molecular disease 118
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman 118
Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations 117
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 117
Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction. 115
A new homozygous CACNB2 mutation has functional relevance and supports a role for calcium channels in autism spectrum disorder. 115
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy 113
Prenatal diagnosis of Simpson–Golabi–Behmel syndrome 113
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes 112
Epilepsy with auditory features: Contribution of known genes in 112 patients 111
SLFN14-related thrombocytopenia: Identification within a large series of patients with inherited thrombocytopenia 109
Advances in genetic testing and optimization of clinical management in children and adults with epilepsy 109
A stereo EEG study in a patient with sleep-related hypermotor epilepsy due to DEPDC5 mutation 108
Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes. 104
Linkage exclusion in Italian families with hereditary essential tremor. 104
null 103
EXCAVATOR: detecting copy number variants from whole-exome sequencing data. 102
AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics 101
DEPDC5 mutations in epilepsy with auditory features 97
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. 96
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 94
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia 91
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks 89
GATOR1 complex: the common genetic actor in focal epilepsies 88
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 88
Polygenic burden in focal and generalized epilepsies 87
The landscape of epilepsy-related GATOR1 variants 86
Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance 82
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2 79
null 76
H3M2: detection of runs of homozygosity from whole-exome sequencing data 72
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism 72
R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome 69
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late 69
Identification of genes responsible for Nocturnal Frontal Lobe Epilepsy (NFLE): role of DEPDC5 mutations 65
Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) syndrome: is PTPN22 involved? 61
Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies 58
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder? 58
Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only 51
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis 47
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders 43
Resources and tools for rare disease variant interpretation 40
unCOVERApp: an interactive graphical application for clinical assessment of sequence coverage at the base-pair level 38
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup 36
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 36
Exploration of Tools for the Interpretation of Human Non-Coding Variants 30
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations 30
Distinct gene-set burden patterns underlie common generalized and focal epilepsies 29
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy 26
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype 24
Long read sequencing on its way to the routine diagnostics of genetic diseases 13
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children 10
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy 10
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction 7
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome - first report of an ad hoc task force 5
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 5
Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture 3
Totale 7.816
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Categoria #
all - tutte 19.868
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 19.868
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2019/20201.813 223 45 13 109 198 182 240 240 262 123 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
2024/20256 6 0 0 0 0 0 0 0 0 0 0 0
Totale 7.816