CRIS Current Research Information System

PIPPUCCI, TOMMASO
 Distribuzione geografica
Salva come PNG Salva come JPEG
Continente #
NA - Nord America 4.700
AS - Asia 3.791
EU - Europa 3.504
AF - Africa 260
SA - Sud America 198
OC - Oceania 7
Totale 12.460
Salva come PNG Salva come JPEG
Nazione #
US - Stati Uniti d'America 4.653
SG - Singapore 1.140
CN - Cina 1.041
IT - Italia 1.022
VN - Vietnam 843
GB - Regno Unito 583
SE - Svezia 414
DE - Germania 411
HK - Hong Kong 277
IN - India 173
RU - Federazione Russa 171
NL - Olanda 167
FR - Francia 145
BR - Brasile 143
KR - Corea 134
IE - Irlanda 130
UA - Ucraina 99
CI - Costa d'Avorio 94
FI - Finlandia 71
ZA - Sudafrica 57
TG - Togo 55
JO - Giordania 49
BG - Bulgaria 46
EE - Estonia 43
AT - Austria 37
CH - Svizzera 33
JP - Giappone 32
BE - Belgio 31
CA - Canada 31
ID - Indonesia 31
PL - Polonia 30
AR - Argentina 29
SC - Seychelles 25
ES - Italia 19
NG - Nigeria 14
EC - Ecuador 12
GR - Grecia 12
UZ - Uzbekistan 11
RO - Romania 10
CZ - Repubblica Ceca 8
HR - Croazia 8
IR - Iran 8
BD - Bangladesh 7
MX - Messico 7
IQ - Iraq 6
MY - Malesia 6
TR - Turchia 6
CO - Colombia 5
EG - Egitto 5
LB - Libano 5
AU - Australia 4
CL - Cile 4
DO - Repubblica Dominicana 4
AZ - Azerbaigian 3
DK - Danimarca 3
KE - Kenya 3
LT - Lituania 3
PH - Filippine 3
PK - Pakistan 3
AE - Emirati Arabi Uniti 2
LV - Lettonia 2
MA - Marocco 2
NZ - Nuova Zelanda 2
PA - Panama 2
PY - Paraguay 2
SK - Slovacchia (Repubblica Slovacca) 2
TN - Tunisia 2
TW - Taiwan 2
VE - Venezuela 2
AD - Andorra 1
BH - Bahrain 1
BJ - Benin 1
BT - Bhutan 1
DZ - Algeria 1
HN - Honduras 1
HU - Ungheria 1
KW - Kuwait 1
LA - Repubblica Popolare Democratica del Laos 1
LK - Sri Lanka 1
MM - Myanmar 1
NO - Norvegia 1
OM - Oman 1
PE - Perù 1
PT - Portogallo 1
SA - Arabia Saudita 1
SN - Senegal 1
SV - El Salvador 1
SY - Repubblica araba siriana 1
TO - Tonga 1
TT - Trinidad e Tobago 1
Totale 12.460
Salva come PNG Salva come JPEG
Città #
Singapore 766
Ashburn 534
Fairfield 514
Southend 478
Chandler 435
Hefei 279
Hong Kong 275
Bologna 273
Woodbridge 273
Wilmington 222
Dong Ket 220
Houston 211
Seattle 211
Cambridge 182
Ann Arbor 168
Princeton 144
Santa Clara 144
Beijing 143
Seoul 133
Dublin 130
Boardman 103
Abidjan 94
Ho Chi Minh City 87
Florence 81
Hanoi 80
Dallas 79
Los Angeles 66
Milan 64
New York 57
Westminster 56
Lomé 55
Nanjing 52
Redmond 51
Jacksonville 50
Amman 49
Padova 46
Berlin 45
Helsinki 45
Turin 44
Sofia 43
San Diego 37
Buffalo 33
Falls Church 32
Redondo Beach 31
Tokyo 30
Warsaw 29
Brussels 28
Jinan 28
Vienna 25
Nuremberg 24
Bern 23
Frankfurt am Main 23
Munich 23
Rome 23
Bengaluru 22
Jakarta 21
Lappeenranta 21
Changsha 20
Modena 20
Saint Petersburg 20
São Paulo 20
Amsterdam 19
Shenyang 19
Hebei 18
Parma 18
Shanghai 18
Chicago 16
Zhengzhou 16
Falkenstein 15
Paris 15
Guangzhou 14
Hangzhou 14
Mülheim 14
Nanchang 14
Abeokuta 13
Castel Maggiore 13
Dearborn 13
Tianjin 12
Da Nang 11
Desenzano del Garda 11
Fornovo di Taro 11
Haiphong 11
Kuban 11
Moscow 11
Phoenix 11
Verona 11
Xi'an 11
Des Moines 10
Naples 10
Tongling 10
Toronto 10
Bremen 9
Ferrara 9
London 9
Olalla 9
Pisa 9
Boydton 8
Hải Dương 8
Shijiazhuang 8
Boston 7
Totale 7.991
Salva come PNG Salva come JPEG
Nome #
5′UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia 321
Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant. 234
LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF). 230
BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype 230
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies 223
Adult patients with intellectual disability and epilepsy: clinical and genetic study of 114 cases 217
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism 214
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24. 213
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction 203
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree. 203
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy 200
Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31. 196
Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only 195
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes 195
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity. 191
GATOR1 complex: the common genetic actor in focal epilepsies 189
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients 187
Profile of neuropsychological impairment in Sleep-related Hypermotor Epilepsy 183
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. 182
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype. 181
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 175
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy 173
Clinical and pathogenetic features of ETV6 related thrombocytopenia with predisposition to acute lymphoblastic leukemia 172
Resources and tools for rare disease variant interpretation 171
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene 171
Epilepsy with auditory features: Long-term outcome and predictors of terminal remission 171
Epilepsy with auditory features: Contribution of known genes in 112 patients 168
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup 165
Epilepsy with auditory features: A heterogeneous clinico-molecular disease 165
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes 165
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts 164
A new homozygous CACNB2 mutation has functional relevance and supports a role for calcium channels in autism spectrum disorder. 163
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 162
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 160
Prenatal diagnosis of Simpson–Golabi–Behmel syndrome 159
Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction. 159
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman 157
Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations 156
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 153
Long read sequencing on its way to the routine diagnostics of genetic diseases 152
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. 150
SLFN14-related thrombocytopenia: Identification within a large series of patients with inherited thrombocytopenia 150
Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy 148
EX-HOM (EXome-HOMozygosity): a proof of principle 148
AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics 148
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy 147
Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes. 144
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 141
EXCAVATOR: detecting copy number variants from whole-exome sequencing data. 139
null 139
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia 139
Exploration of Tools for the Interpretation of Human Non-Coding Variants 135
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 135
Advances in genetic testing and optimization of clinical management in children and adults with epilepsy 134
Linkage exclusion in Italian families with hereditary essential tremor. 131
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks 129
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children 126
A stereo EEG study in a patient with sleep-related hypermotor epilepsy due to DEPDC5 mutation 126
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. 126
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late 125
Polygenic burden in focal and generalized epilepsies 124
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2 123
The landscape of epilepsy-related GATOR1 variants 123
DEPDC5 mutations in epilepsy with auditory features 120
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism 119
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)) 117
Identification of genes responsible for Nocturnal Frontal Lobe Epilepsy (NFLE): role of DEPDC5 mutations 106
Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance 106
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder? 104
null 103
Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) syndrome: is PTPN22 involved? 102
H3M2: detection of runs of homozygosity from whole-exome sequencing data 102
Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies 102
R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome 97
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis 96
Molecular Factors Predicting Ovarian Chemotoxicity in Fertile Women: A Systematic Review 85
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 78
null 76
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders 75
unCOVERApp: an interactive graphical application for clinical assessment of sequence coverage at the base-pair level 72
Distinct gene-set burden patterns underlie common generalized and focal epilepsies 67
Detection of somatic and germline pathogenic variants in adult cohort of drug-resistant focal epilepsies 63
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations 63
Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture 62
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 59
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype 57
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome - first report of an ad hoc task force 54
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy 45
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy 36
Correction: The landscape of epilepsy-related GATOR1 variants (Genetics in Medicine (2019) 21(2) (398–408), (S1098360021046268), (10.1038/s41436-018-0060-2)) 26
Expanding the Clinical Spectrum of SPG26: A Case Report and Review of B4GALNT1-Associated Hereditary Spastic Paraplegia 15
Totale 12.805
Salva come PNG Salva come JPEG
Categoria #
all - tutte 35.567
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 35.567
Salva come PNG Salva come JPEG


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2020/2021917 0 0 0 0 0 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
2024/20252.339 94 323 216 177 241 135 154 97 56 233 160 453
2025/20262.656 499 603 444 432 544 134 0 0 0 0 0 0
Totale 12.805