CRIS Current Research Information System

PIPPUCCI, TOMMASO
 Distribuzione geografica
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Continente #
NA - Nord America 5.256
AS - Asia 5.204
EU - Europa 3.800
AF - Africa 288
SA - Sud America 251
OC - Oceania 10
Totale 14.809
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Nazione #
US - Stati Uniti d'America 5.194
VN - Vietnam 1.550
SG - Singapore 1.366
CN - Cina 1.233
IT - Italia 1.124
GB - Regno Unito 609
DE - Germania 429
SE - Svezia 416
HK - Hong Kong 325
FR - Francia 223
IN - India 213
NL - Olanda 177
BR - Brasile 176
RU - Federazione Russa 175
KR - Corea 144
IE - Irlanda 130
UA - Ucraina 105
CI - Costa d'Avorio 96
FI - Finlandia 90
JP - Giappone 70
ZA - Sudafrica 65
TG - Togo 55
JO - Giordania 50
BG - Bulgaria 46
EE - Estonia 44
ID - Indonesia 39
AT - Austria 38
AR - Argentina 37
CA - Canada 37
BE - Belgio 36
PL - Polonia 35
CH - Svizzera 34
PH - Filippine 31
ES - Italia 27
SC - Seychelles 25
IQ - Iraq 23
BD - Bangladesh 22
TH - Thailandia 20
TR - Turchia 20
NG - Nigeria 15
UZ - Uzbekistan 14
EC - Ecuador 13
TW - Taiwan 13
GR - Grecia 12
MX - Messico 11
HR - Croazia 10
PK - Pakistan 10
RO - Romania 10
CO - Colombia 9
IR - Iran 9
MY - Malesia 9
CZ - Repubblica Ceca 8
SA - Arabia Saudita 8
AU - Australia 7
CL - Cile 6
LT - Lituania 6
DO - Repubblica Dominicana 5
DZ - Algeria 5
EG - Egitto 5
KE - Kenya 5
LB - Libano 5
MA - Marocco 5
AZ - Azerbaigian 4
DK - Danimarca 4
PY - Paraguay 4
TN - Tunisia 4
VE - Venezuela 4
IL - Israele 3
LV - Lettonia 3
NP - Nepal 3
SY - Repubblica araba siriana 3
AE - Emirati Arabi Uniti 2
BH - Bahrain 2
ET - Etiopia 2
JM - Giamaica 2
KG - Kirghizistan 2
KH - Cambogia 2
KZ - Kazakistan 2
NZ - Nuova Zelanda 2
PA - Panama 2
SI - Slovenia 2
SK - Slovacchia (Repubblica Slovacca) 2
TT - Trinidad e Tobago 2
AD - Andorra 1
AM - Armenia 1
BA - Bosnia-Erzegovina 1
BJ - Benin 1
BT - Bhutan 1
CG - Congo 1
CR - Costa Rica 1
GH - Ghana 1
GN - Guinea 1
HN - Honduras 1
HU - Ungheria 1
KW - Kuwait 1
LA - Repubblica Popolare Democratica del Laos 1
LK - Sri Lanka 1
MG - Madagascar 1
MM - Myanmar 1
NO - Norvegia 1
Totale 14.802
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Città #
Singapore 978
Ashburn 603
Fairfield 514
Southend 478
Chandler 435
Hong Kong 314
Bologna 300
Ho Chi Minh City 286
Hefei 279
Woodbridge 273
Hanoi 239
Wilmington 222
Dong Ket 220
Cambridge 217
Houston 212
Seattle 212
San Jose 202
Ann Arbor 168
Santa Clara 151
Beijing 147
Princeton 144
Seoul 134
Dublin 130
Boardman 103
Abidjan 96
Los Angeles 85
Dallas 84
Florence 82
Lauterbourg 74
Milan 72
New York 70
Helsinki 62
Tokyo 58
Westminster 56
Lomé 55
Nanjing 52
Jacksonville 51
Redmond 51
Amman 50
Da Nang 46
Padova 46
Berlin 45
Turin 45
Sofia 43
Council Bluffs 42
Haiphong 38
Buffalo 37
San Diego 37
Frankfurt am Main 36
Warsaw 33
Brussels 32
Falls Church 32
Redondo Beach 31
Jinan 28
Amsterdam 27
Guangzhou 26
São Paulo 26
Vienna 26
Shanghai 25
Nuremberg 24
Rome 24
Bern 23
Chicago 23
Jakarta 23
Munich 23
Bengaluru 22
Changsha 22
Lappeenranta 22
Modena 21
Saint Petersburg 20
Shenyang 20
Zhengzhou 19
Hangzhou 18
Hebei 18
Orem 18
Parma 18
Paris 17
Biên Hòa 15
Falkenstein 15
London 15
Mülheim 14
Nanchang 14
Phoenix 14
Tianjin 14
Abeokuta 13
Can Tho 13
Castel Maggiore 13
Dearborn 13
Xi'an 13
Toronto 12
Denver 11
Desenzano del Garda 11
Fornovo di Taro 11
Hải Dương 11
Johannesburg 11
Kuban 11
Moscow 11
Tongling 11
Verona 11
Bến Tre 10
Totale 9.322
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Nome #
5′UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia 408
BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype 335
Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant. 255
LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF). 253
Adult patients with intellectual disability and epilepsy: clinical and genetic study of 114 cases 247
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies 241
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction 239
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity. 239
Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only 238
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism 238
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree. 231
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24. 229
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes 228
Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31. 224
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients 220
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks 214
Profile of neuropsychological impairment in Sleep-related Hypermotor Epilepsy 212
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup 207
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 207
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy 205
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes 205
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene 204
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. 202
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype. 202
GATOR1 complex: the common genetic actor in focal epilepsies 202
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy 201
Resources and tools for rare disease variant interpretation 200
Epilepsy with auditory features: Contribution of known genes in 112 patients 199
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 198
Epilepsy with auditory features: Long-term outcome and predictors of terminal remission 198
Clinical and pathogenetic features of ETV6 related thrombocytopenia with predisposition to acute lymphoblastic leukemia 198
Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction. 195
A New Homozygous CACNB2 Mutation has Functional Relevance and Supports a Role for Calcium Channels in Autism Spectrum Disorder 194
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts 190
Long read sequencing on its way to the routine diagnostics of genetic diseases 187
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 186
Epilepsy with auditory features: A heterogeneous clinico-molecular disease 185
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 185
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 184
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman 182
AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics 182
Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations 181
Prenatal diagnosis of Simpson–Golabi–Behmel syndrome 176
Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy 173
SLFN14-related thrombocytopenia: Identification within a large series of patients with inherited thrombocytopenia 170
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late 167
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy 165
Exploration of Tools for the Interpretation of Human Non-Coding Variants 163
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. 160
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children 158
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 158
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia 158
EXCAVATOR: detecting copy number variants from whole-exome sequencing data. 157
Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes. 155
EX-HOM (EXome-HOMozygosity): a proof of principle 154
Advances in genetic testing and optimization of clinical management in children and adults with epilepsy 150
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism 149
Erratum: Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals (The American Journal of Human Genetics (2021) 108(6) (965–982), (S0002929721001403), (10.1016/j.ajhg.2021.04.009)) 144
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2 143
Linkage exclusion in Italian families with hereditary essential tremor. 142
Polygenic burden in focal and generalized epilepsies 141
null 139
A stereo EEG study in a patient with sleep-related hypermotor epilepsy due to DEPDC5 mutation 135
The landscape of epilepsy-related GATOR1 variants 135
DEPDC5 mutations in epilepsy with auditory features 134
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. 134
Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance 127
Identification of genes responsible for Nocturnal Frontal Lobe Epilepsy (NFLE): role of DEPDC5 mutations 125
H3M2: detection of runs of homozygosity from whole-exome sequencing data 123
Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies 122
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis 121
Molecular Factors Predicting Ovarian Chemotoxicity in Fertile Women: A Systematic Review 120
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder? 119
Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) syndrome: is PTPN22 involved? 115
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 111
R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome 111
null 103
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders 101
Detection of somatic and germline pathogenic variants in adult cohort of drug-resistant focal epilepsies 97
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 97
Distinct gene-set burden patterns underlie common generalized and focal epilepsies 90
Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture 89
unCOVERApp: an interactive graphical application for clinical assessment of sequence coverage at the base-pair level 83
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations 78
null 76
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype 75
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy 70
Expanding the Clinical Spectrum of SPG26: A Case Report and Review of B4GALNT1-Associated Hereditary Spastic Paraplegia 68
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome - first report of an ad hoc task force 65
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy 61
Correction: The landscape of epilepsy-related GATOR1 variants (Genetics in Medicine (2019) 21(2) (398–408), (S1098360021046268), (10.1038/s41436-018-0060-2)) 41
Totale 15.178
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Categoria #
all - tutte 39.422
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 39.422
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021634 0 0 0 0 0 0 0 0 0 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
2024/20252.339 94 323 216 177 241 135 154 97 56 233 160 453
2025/20265.029 499 603 444 432 544 298 654 239 903 413 0 0
Totale 15.178