CRIS Current Research Information System

PIPPUCCI, TOMMASO
 Distribuzione geografica
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Continente #
NA - Nord America 5.829
AS - Asia 5.325
EU - Europa 3.932
Continente sconosciuto - Info sul continente non disponibili 370
AF - Africa 288
SA - Sud America 261
OC - Oceania 10
Totale 16.015
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Nazione #
US - Stati Uniti d'America 5.724
VN - Vietnam 1.556
SG - Singapore 1.388
CN - Cina 1.248
IT - Italia 1.233
GB - Regno Unito 612
DE - Germania 430
SE - Svezia 418
HK - Hong Kong 336
FR - Francia 225
IN - India 214
NL - Olanda 186
BR - Brasile 184
RU - Federazione Russa 175
KR - Corea 144
IE - Irlanda 130
UA - Ucraina 105
CI - Costa d'Avorio 96
FI - Finlandia 90
BD - Bangladesh 86
JP - Giappone 71
ZA - Sudafrica 65
CA - Canada 60
TG - Togo 55
JO - Giordania 51
BG - Bulgaria 46
EE - Estonia 44
ID - Indonesia 39
AT - Austria 38
PL - Polonia 38
AR - Argentina 37
BE - Belgio 36
CH - Svizzera 34
PH - Filippine 31
ES - Italia 29
SC - Seychelles 25
IQ - Iraq 23
TH - Thailandia 20
TR - Turchia 20
NG - Nigeria 15
EC - Ecuador 14
MX - Messico 14
UZ - Uzbekistan 14
TW - Taiwan 13
GR - Grecia 12
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 7
CR - Costa Rica 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
JM - Giamaica 4
PY - Paraguay 4
TN - Tunisia 4
VE - Venezuela 4
HN - Honduras 3
IL - Israele 3
LV - Lettonia 3
NP - Nepal 3
SY - Repubblica araba siriana 3
TT - Trinidad e Tobago 3
AE - Emirati Arabi Uniti 2
BH - Bahrain 2
ET - Etiopia 2
KG - Kirghizistan 2
KH - Cambogia 2
KZ - Kazakistan 2
NI - Nicaragua 2
NZ - Nuova Zelanda 2
PA - Panama 2
SI - Slovenia 2
SK - Slovacchia (Repubblica Slovacca) 2
SV - El Salvador 2
AD - Andorra 1
AG - Antigua e Barbuda 1
AM - Armenia 1
BA - Bosnia-Erzegovina 1
BB - Barbados 1
BJ - Benin 1
BT - Bhutan 1
CG - Congo 1
GH - Ghana 1
GN - Guinea 1
HU - Ungheria 1
KW - Kuwait 1
KY - Cayman, isole 1
Totale 15.632
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Città #
Singapore 998
Ashburn 628
Fairfield 514
Southend 478
Chandler 435
Hong Kong 324
Bologna 317
Ho Chi Minh City 286
Hefei 279
Woodbridge 273
Hanoi 239
San Jose 233
Wilmington 222
Dong Ket 220
Cambridge 218
Seattle 215
Houston 212
Santa Clara 172
Ann Arbor 168
Beijing 155
Princeton 145
Seoul 134
Dublin 130
Boardman 116
Council Bluffs 110
Los Angeles 98
Abidjan 96
New York 92
Dallas 90
Florence 83
Milan 81
Lauterbourg 74
Helsinki 62
Tokyo 59
Westminster 56
Lomé 55
Nanjing 52
Amman 51
Jacksonville 51
Redmond 51
Turin 48
Da Nang 47
Padova 46
Berlin 45
Buffalo 44
Sofia 43
Haiphong 38
San Diego 37
Frankfurt am Main 36
Warsaw 35
Brussels 32
Falls Church 32
Redondo Beach 31
Jinan 28
Rome 28
São Paulo 28
Amsterdam 27
Shanghai 27
Guangzhou 26
Vienna 26
Chicago 25
Nuremberg 24
Bern 23
Jakarta 23
Munich 23
Orem 23
Bengaluru 22
Changsha 22
Lappeenranta 22
Modena 22
Phoenix 21
Shenyang 21
Saint Petersburg 20
Parma 19
Zhengzhou 19
Hangzhou 18
Hebei 18
Paris 17
London 16
Toronto 16
Biên Hòa 15
Falkenstein 15
Naples 15
Mülheim 14
Nanchang 14
Tianjin 14
Abeokuta 13
Atlanta 13
Can Tho 13
Castel Maggiore 13
Dearborn 13
Xi'an 13
Denver 12
Boydton 11
Desenzano del Garda 11
Fornovo di Taro 11
Hải Dương 11
Johannesburg 11
Kuban 11
Moscow 11
Totale 9.644
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Nome #
5′UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia 424
BRCA1 p.His1673del is a pathogenic mutation associated with a predominant ovarian cancer phenotype 342
ACTN1 mutations lead to a benign form of platelet macrocytosis not always associated with thrombocytopenia 299
COQ7 defect causes prenatal onset of mitochondrial CoQ10 deficiency with cardiomyopathy and gastrointestinal obstruction 260
Syndromic intellectual disability: A new phenotype caused by an aromatic amino acid decarboxylase gene (DDC) variant. 260
LGI1 microdeletions are not a frequent cause of partial epilepsy with auditory features (PEAF). 257
Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only 256
Adult patients with intellectual disability and epilepsy: clinical and genetic study of 114 cases 253
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies 249
A novel mutation in SPART gene causes a severe neurodevelopmental delay due to mitochondrial dysfunction with complex I impairments and altered pyruvate metabolism 247
Autosomal recessive hereditary spastic paraplegia with thin corpus callosum: a novel mutation in the SPG11 gene and further evidence for genetic heterogeneity. 246
A new form of inherited thrombocytopenia due to monoallelic loss of function mutation in the thrombopoietin gene 235
A novel locus for syndromic chronic idiopathic intestinal pseudo-obstruction maps to chromosome 8q23-q24. 234
A novel missense mutation in ANO5/TMEM16E is causative for gnathodiaphyseal dyplasia in a large Italian pedigree. 233
Accurate Detection of Hot-Spot MTOR Somatic Mutations in Archival Surgical Specimens of Focal Cortical Dysplasia by Molecular Inversion Probes 233
Autosomal dominant partial epilepsy with auditory features: A new locus on chromosome 19q13.11-q13.31. 231
Profile of neuropsychological impairment in Sleep-related Hypermotor Epilepsy 231
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East 230
Somatic APC mosaicism and oligogenic inheritance in genetically unsolved colorectal adenomatous polyposis patients 229
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup 222
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes 220
From Whole Gene Deletion to Point Mutations of EP300-Positive Rubinstein-Taybi Patients: New Insights into the Mutational Spectrum and Peculiar Clinical Hallmarks 216
GATOR1 complex: the common genetic actor in focal epilepsies 215
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. 214
Resources and tools for rare disease variant interpretation 213
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy 210
PRIMA1 mutation: a new cause of nocturnal frontal lobe epilepsy 210
FA2H-related disorders: a novel c.270+3A>T splice-site mutation leads to a complex neurodegenerative phenotype. 210
Epilepsy with auditory features: Contribution of known genes in 112 patients 209
Epilepsy with auditory features: Long-term outcome and predictors of terminal remission 207
Genome-wide identification and phenotypic characterization of seizure-associated copy number variations in 741,075 individuals 206
Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction. 206
Clinical and pathogenetic features of ETV6 related thrombocytopenia with predisposition to acute lymphoblastic leukemia 206
Long read sequencing on its way to the routine diagnostics of genetic diseases 203
A New Homozygous CACNB2 Mutation has Functional Relevance and Supports a Role for Calcium Channels in Autism Spectrum Disorder 200
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder 198
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population 196
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts 195
Epilepsy with auditory features: A heterogeneous clinico-molecular disease 194
Phenotype variability of GLUT1 deficiency syndrome: Description of a case series with novel SLC2A1 gene mutations 190
Whole-exome sequencing in adult patients with developmental and epileptic encephalopathy: It is never too late 190
AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics 188
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman 186
Prenatal diagnosis of Simpson–Golabi–Behmel syndrome 182
Structural Variants at the LMNB1 Locus: Deciphering Pathomechanisms in Autosomal Dominant Adult-Onset Demyelinating Leukodystrophy 181
Structural brain abnormalities in Pallister-Killian syndrome: a neuroimaging study of 31 children 179
SLFN14-related thrombocytopenia: Identification within a large series of patients with inherited thrombocytopenia 173
Exploration of Tools for the Interpretation of Human Non-Coding Variants 170
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy 170
EXCAVATOR: detecting copy number variants from whole-exome sequencing data. 165
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy. 164
Refinement of the SPG9 locus on chromosome 10q23.3-24.2 and exclusion of candidate genes. 161
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia 160
EX-HOM (EXome-HOMozygosity): a proof of principle 159
Mutations in the 5' UTR of ANKRD26, the ankirin repeat domain 26 gene, cause an autosomal-dominant form of inherited thrombocytopenia, THC2 159
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)) 157
Advances in genetic testing and optimization of clinical management in children and adults with epilepsy 156
ALDH18A1 gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism 154
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2–2q11.2 149
Polygenic burden in focal and generalized epilepsies 147
Linkage exclusion in Italian families with hereditary essential tremor. 145
null 140
The landscape of epilepsy-related GATOR1 variants 140
A stereo EEG study in a patient with sleep-related hypermotor epilepsy due to DEPDC5 mutation 139
Molecular Factors Predicting Ovarian Chemotoxicity in Fertile Women: A Systematic Review 137
Distal renal tubular acidosis in a Libyan patient: Evidence for digenic inheritance 136
DEPDC5 mutations in epilepsy with auditory features 135
Mutations in ANKRD26 are responsible for a frequent form of inherited thrombocytopenia: analysis of 78 patients from 21 families. 134
Identification of genes responsible for Nocturnal Frontal Lobe Epilepsy (NFLE): role of DEPDC5 mutations 130
Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies 128
H3M2: detection of runs of homozygosity from whole-exome sequencing data 125
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis 125
Is Focal Cortical Dysplasia/Epilepsy Caused by Somatic MTOR Mutations Always a Unilateral Disorder? 122
Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes 120
Synovitis, Acne, Pustulosis, Hyperostosis, Osteitis (SAPHO) syndrome: is PTPN22 involved? 117
R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome 113
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders 107
null 103
Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals 103
Detection of somatic and germline pathogenic variants in adult cohort of drug-resistant focal epilepsies 102
Genome-wide meta-analysis of over 29,000 people with epilepsy reveals 26 loci and subtype-specific genetic architecture 94
Distinct gene-set burden patterns underlie common generalized and focal epilepsies 93
Expanding the Clinical Spectrum of SPG26: A Case Report and Review of B4GALNT1-Associated Hereditary Spastic Paraplegia 86
unCOVERApp: an interactive graphical application for clinical assessment of sequence coverage at the base-pair level 86
A novel pedigree with familial cortical myoclonic tremor and epilepsy (FCMTE): Clinical characterization, refinement of the FCMTE2 locus, and confirmation of a founder haplotype 84
Shared genetic basis between genetic generalized epilepsy and background electroencephalographic oscillations 81
null 76
Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy 76
Guideline recommendations for diagnosis and clinical management of Ring14 syndrome - first report of an ad hoc task force 73
De novo and bi-allelic variants in AP1G1 cause neurodevelopmental disorder with developmental delay, intellectual disability, and epilepsy 68
Correction: The landscape of epilepsy-related GATOR1 variants (Genetics in Medicine (2019) 21(2) (398–408), (S1098360021046268), (10.1038/s41436-018-0060-2)) 58
Totale 16.015
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Categoria #
all - tutte 43.786
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 43.786
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Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2021/20221.429 0 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
2025/20265.484 499 603 444 432 544 298 654 239 903 462 242 164
2026/2027382 233 149 0 0 0 0 0 0 0 0 0 0
Totale 16.015