FERRERO, Giovanni Battista
 Distribuzione geografica
Continente #
NA - Nord America 2929
EU - Europa 1375
AS - Asia 682
OC - Oceania 48
AF - Africa 40
SA - Sud America 39
Totale 5113
Nazione #
US - Stati Uniti d'America 2842
IT - Italia 478
CN - Cina 348
DE - Germania 200
GB - Regno Unito 88
CA - Canada 79
VN - Vietnam 74
FR - Francia 69
ES - Italia 63
PL - Polonia 60
CZ - Repubblica Ceca 59
JP - Giappone 59
RU - Federazione Russa 57
KR - Corea 51
NL - Olanda 45
AU - Australia 40
IE - Irlanda 39
RO - Romania 38
IN - India 33
CH - Svizzera 26
ZA - Sudafrica 26
TR - Turchia 19
AT - Austria 18
BR - Brasile 18
FI - Finlandia 18
ID - Indonesia 16
BA - Bosnia-Erzegovina 15
GR - Grecia 14
PT - Portogallo 14
CL - Cile 13
DK - Danimarca 13
HK - Hong Kong 13
IL - Israele 13
LB - Libano 13
BE - Belgio 12
KE - Kenya 11
TW - Taiwan 11
SE - Svezia 9
NZ - Nuova Zelanda 8
NO - Norvegia 7
TH - Thailandia 7
SI - Slovenia 6
UA - Ucraina 6
AR - Argentina 5
HR - Croazia 5
HU - Ungheria 5
LT - Lituania 5
MX - Messico 5
IR - Iran 4
CO - Colombia 3
SG - Singapore 3
AE - Emirati Arabi Uniti 2
GE - Georgia 2
IQ - Iraq 2
LK - Sri Lanka 2
PH - Filippine 2
PR - Porto Rico 2
SA - Arabia Saudita 2
BD - Bangladesh 1
BS - Bahamas 1
DZ - Algeria 1
IS - Islanda 1
JO - Giordania 1
LU - Lussemburgo 1
MD - Moldavia 1
MK - Macedonia 1
MT - Malta 1
MY - Malesia 1
NG - Nigeria 1
NP - Nepal 1
PK - Pakistan 1
QA - Qatar 1
RS - Serbia 1
UG - Uganda 1
Totale 5113
Città #
Fairfield 370
Houston 214
Buffalo 208
Torino 194
Seattle 183
Woodbridge 181
Santa Cruz 180
Ashburn 159
Wilmington 116
Cambridge 115
Ann Arbor 114
Beijing 68
Dong Ket 57
Shanghai 44
Warsaw 42
Pisa 36
Wuhan 35
University Park 29
Mountain View 26
San Diego 25
Las Vegas 24
Iasi 22
Los Angeles 21
Ottawa 20
Chicago 19
Hangzhou 19
Phoenix 19
Clearwater 18
Guangzhou 18
Kildare 18
Shenyang 17
Lake Forest 16
Milan 16
Nanjing 16
Philadelphia 16
Tokyo 16
Toronto 16
Muizenberg 15
Stanford 15
Barcelona 14
Irvine 14
Chengdu 13
Dearborn 13
Beirut 12
Changsha 12
Sarajevo 11
Vienna 11
Boston 10
Tianjin 10
Bengaluru 9
Bologna 9
Göttingen 9
Lyndhurst 9
New York 9
Nürnberg 9
Stuttgart 9
Henderson 8
Nijmegen 8
Provo 8
San Francisco 8
Seoul 8
Yokohama 8
London 7
Milpitas 7
New Haven 7
Paris 7
Parsippany 7
Rome 7
Taipei 7
Vancouver 7
Zurich 7
Brescia 6
Chongqing 6
Dallas 6
Deland 6
Florence 6
Harbin 6
Jakarta 6
Madrid 6
Montréal 6
Nanchang 6
Riva 6
Summerville 6
Turin 6
Athens 5
Atlanta 5
Baltimore 5
Bari 5
Brisbane 5
Buenos Aires 5
Cardiff 5
Hanover 5
Hebei 5
Helsinki 5
Jinan 5
Munich 5
Norwalk 5
Oslo 5
Redmond 5
Saint Louis 5
Totale 3189
Nome #
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity, file e27ce429-a9c8-2581-e053-d805fe0acbaa 501
Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair, file e27ce426-b566-2581-e053-d805fe0acbaa 383
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism, file e27ce42f-3632-2581-e053-d805fe0acbaa 383
Array-Comparative Genomic Hybridization Analysis in Fetuses with Major Congenital Malformations Reveals that 24% of Cases Have Pathogenic Deletions/Duplications, file e27ce428-b9cb-2581-e053-d805fe0acbaa 322
Functional evaluation of circulating hematopoietic progenitors in Noonan syndrome, file e27ce426-fd39-2581-e053-d805fe0acbaa 194
An atypical 7q11.23 deletion in a normal IQ Williams-Beuren syndrome patient, file e27ce426-bcbf-2581-e053-d805fe0acbaa 183
Clinical Significance of Rare Copy Number Variations in Epilepsy: A Case-Control Survey Using Microarray-Based Comparative Genomic Hybridization., file e27ce428-20c4-2581-e053-d805fe0acbaa 171
Relative Burden of Large CNVs on a Range of Neurodevelopmental Phenotypes, file e27ce426-d7eb-2581-e053-d805fe0acbaa 167
PI3K Signaling in Tissue Hyper-Proliferation: From Overgrowth Syndromes to Kidney Cysts, file e27ce42b-8e2a-2581-e053-d805fe0acbaa 161
The KCNQ1OT1 Imprinting Control Region and non-coding RNA: new properties derived from the study of Beckwith-Wiedemann syndrome and Silver-Russell syndrome cases., file e27ce426-db25-2581-e053-d805fe0acbaa 159
Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH., file e27ce427-03be-2581-e053-d805fe0acbaa 154
Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes, file e27ce42b-f0f5-2581-e053-d805fe0acbaa 152
Transcriptional hallmarks of noonan syndrome and noonan-like syndrome with loose anagen hair, file e27ce426-d3d1-2581-e053-d805fe0acbaa 144
Clinical and molecular diagnosis, screening and management of Beckwith-Wiedemann syndrome: an international consensus statement, file e27ce42d-90e7-2581-e053-d805fe0acbaa 140
Heterozygous germline mutations in the CBL tumor-suppressor gene cause a Noonan syndrome-like phenotype., file e27ce426-c1d4-2581-e053-d805fe0acbaa 136
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells, file e27ce42c-5e51-2581-e053-d805fe0acbaa 129
Subtelomeric FISH analysis in 76 patients with syndromic developmental delay/intellectual disability, file e27ce426-b16e-2581-e053-d805fe0acbaa 122
CNS involvement in OFD1 syndrome: A clinical, molecular, and neuroimaging study, file e27ce42b-8b19-2581-e053-d805fe0acbaa 119
Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant, file e27ce42d-b5b3-2581-e053-d805fe0acbaa 111
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders, file e27ce42e-c8b5-2581-e053-d805fe0acbaa 108
Recessive gene disruptions in autism spectrum disorder, file e27ce42e-e4b1-2581-e053-d805fe0acbaa 104
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes, file e27ce42b-1580-2581-e053-d805fe0acbaa 100
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver–Russell and Beckwith–Wiedemann syndromes, file e27ce42a-dc62-2581-e053-d805fe0acbaa 96
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review, file e27ce431-cd02-2581-e053-d805fe0acbaa 91
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations, file e27ce42e-238b-2581-e053-d805fe0acbaa 90
Data on cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results, file e27ce42c-8ed6-2581-e053-d805fe0acbaa 89
Novel promoters and coding first exons in DLG2 linked to developmental disorders and intellectual disability, file e27ce42d-90e9-2581-e053-d805fe0acbaa 83
Longitudinal monitoring of alpha-fetoprotein by dried blood spot for hepatoblastoma screening in beckwith-wiedemann syndrome, file e27ce42e-809a-2581-e053-d805fe0acbaa 74
Esophageal duplication cyst in newborn, file e27ce42f-529e-2581-e053-d805fe0acbaa 65
Transcription alterations of KCNQ1 associated with imprinted methylation defects in the Beckwith–Wiedemann locus, file e27ce42f-72a1-2581-e053-d805fe0acbaa 65
Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples, file e27ce429-adb7-2581-e053-d805fe0acbaa 57
Wilms tumour occurring in a patient with osteopathia striata with cranial sclerosis: A still unsolved biological question, file e27ce432-483f-2581-e053-d805fe0acbaa 55
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review, file e27ce430-b04b-2581-e053-d805fe0acbaa 54
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations, file e27ce431-7ebb-2581-e053-d805fe0acbaa 51
Molecular Etiology Disclosed by Array CGH in Patients With Silver–Russell Syndrome or Similar Phenotypes, file e27ce42f-5361-2581-e053-d805fe0acbaa 43
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder, file e27ce42c-4a3b-2581-e053-d805fe0acbaa 37
Pharmacological and clinical evaluation of deferasirox formulations for treatment tailoring, file e27ce432-7fb8-2581-e053-d805fe0acbaa 33
Lateralized and segmental overgrowth in children, file e27ce434-838d-2581-e053-d805fe0acbaa 30
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients, file e27ce430-8d26-2581-e053-d805fe0acbaa 18
SOS1 mutations in Noonan syndrome:molecular spectrum, structural insights on pathogenic effects, andgenotype-phenotype correlations., file e27ce426-bd38-2581-e053-d805fe0acbaa 15
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients, file e27ce42c-7452-2581-e053-d805fe0acbaa 13
Clinical spectrum and follow-up in six individuals with Lamb-Shaffer syndrome (SOX5), file e27ce430-b008-2581-e053-d805fe0acbaa 13
Prevalence of beckwith-wiedemann syndrome in North West of Italy, file e27ce426-fd37-2581-e053-d805fe0acbaa 9
Recessive gene disruptions in autism spectrum disorder, file e27ce42f-3476-2581-e053-d805fe0acbaa 9
Functional evaluation of Natural Killer cell cytotoxic activity in NFKB2-mutated patients, file e27ce42e-c9f1-2581-e053-d805fe0acbaa 7
Recessive gene disruptions in autism spectrum disorder, file e27ce42f-3477-2581-e053-d805fe0acbaa 7
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis, file e27ce435-5c41-2581-e053-d805fe0acbaa 7
Cryptic deletions are a common finding in balanced reciprocal and complex chromosome rearrangements: a study of 59 patients, file e27ce426-9e43-2581-e053-d805fe0acbaa 6
Prevention and management of hearing loss in syndromic craniosynostosis: A case series, file e27ce429-184b-2581-e053-d805fe0acbaa 6
790 Kb microduplication in chromosome band 17p13.1 associated with intellectual disability, afebrile seizures, dysmorphic features, diabetes, and hypothyroidism, file e27ce42b-f9be-2581-e053-d805fe0acbaa 6
Mek inhibition in a newborn with raf1-associated noonan syndrome ameliorates hypertrophic cardiomyopathy but is insufficient to revert pulmonary vascular disease, file e27ce434-4ab5-2581-e053-d805fe0acbaa 5
Mechanisms causing imprinting defects in familial Beckwith-Wiedemann syndrome with Wilms' tumour, file e27ce426-abf6-2581-e053-d805fe0acbaa 4
AEC syndrome: further evidence of a common genetic etiology with Rapp-Hodgkin syndrome, file e27ce426-b3ed-2581-e053-d805fe0acbaa 4
Atypical microdeletion 22q11.2 in a patient with tetralogy of Fallot, file e27ce431-c9fa-2581-e053-d805fe0acbaa 4
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome, file e27ce435-4de9-2581-e053-d805fe0acbaa 4
Microdeletions in the human H19 DMR result in loss of IGF2 imprinting and Beckwith-Wiedemann syndrome, file e27ce426-b34d-2581-e053-d805fe0acbaa 3
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder, file e27ce42c-4956-2581-e053-d805fe0acbaa 3
Nomenclature and definition in asymmetric regional body overgrowth, file e27ce42d-1323-2581-e053-d805fe0acbaa 3
Assisted Reproductive Techniques and Risk of Beckwith-Wiedemann Syndrome, file e27ce42d-99c1-2581-e053-d805fe0acbaa 3
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations, file e27ce42e-4616-2581-e053-d805fe0acbaa 3
New insights into potocki-shaffer syndrome: Report of two novel cases and literature review, file e27ce430-b04c-2581-e053-d805fe0acbaa 3
A novel 3q29 deletion associated with autism, intellectual disability, psychiatric disorders, and obesity, file e27ce429-ab06-2581-e053-d805fe0acbaa 2
The overlap between Sotos and Beckwith-Wiedemann syndromes, file e27ce42a-723f-2581-e053-d805fe0acbaa 2
Cancer Risk in Beckwith-Wiedemann Syndrome: A Systematic Review and Meta-Analysis Outlining a Novel (Epi)Genotype Specific Histotype Targeted Screening Protocol., file e27ce42a-8be7-2581-e053-d805fe0acbaa 2
(Epi)genotype-phenotype correlations in Beckwith-Wiedemann syndrome, file e27ce42a-e5f1-2581-e053-d805fe0acbaa 2
Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes, file e27ce42b-157f-2581-e053-d805fe0acbaa 2
Progressive extreme heterotopic calcification, file e27ce42c-259c-2581-e053-d805fe0acbaa 2
Cover Image, Volume 170A, Number 7, July 2016, file e27ce42c-2690-2581-e053-d805fe0acbaa 2
Defining an optimal time window to screen for hepatoblastoma in children with Beckwith-Wiedemann syndrome, file e27ce42d-99bd-2581-e053-d805fe0acbaa 2
Revisiting Wilms tumour surveillance in Beckwith-Wiedemann syndrome with IC2 methylation loss, reply, file e27ce42d-99bf-2581-e053-d805fe0acbaa 2
NBAS pathogenic variants: defining the associated clinical and facial phenotype and genotype-phenotype correlations, file e27ce42e-4617-2581-e053-d805fe0acbaa 2
Recessive gene disruptions in autism spectrum disorder, file e27ce42e-e4b2-2581-e053-d805fe0acbaa 2
Expanding the clinical phenotype of the ultra-rare Skraban-Deardorff syndrome: Two novel individuals with WDR26 loss-of-function variants and a literature review, file e27ce431-c51a-2581-e053-d805fe0acbaa 2
Mapping the human genetic architecture of COVID-19, file e27ce435-0d64-2581-e053-d805fe0acbaa 2
“Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)”, file e27ce435-a0d0-2581-e053-d805fe0acbaa 2
Successful treatment with MEK-inhibitor in a patient with NRAS-related cutaneous skeletal hypophosphatemia syndrome, file 0896349a-a018-4638-86d7-8bf5c47ffcac 1
Neonatal hepatoblastoma in a newborn with severe phenotype of Beckwith-Wiedemann syndrome., file e27ce42a-a7e8-2581-e053-d805fe0acbaa 1
Cardiac defects, morbidity and mortality in patients affected by RASopathies. CARNET study results, file e27ce42d-b5b5-2581-e053-d805fe0acbaa 1
Assisted reproduction techniques and prenatal diagnosis of Beckwith-Wiedemann spectrum presenting with omphalocele, file e27ce42d-b627-2581-e053-d805fe0acbaa 1
Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism, file e27ce42e-fdfb-2581-e053-d805fe0acbaa 1
Phenotype evolution and health issues of adults with Beckwith-Wiedemann syndrome, file e27ce432-6076-2581-e053-d805fe0acbaa 1
“Thyroid nodular disease and PTEN mutation in a multicentre series of children with PTEN hamartoma tumor syndrome (PHTS)”, file e27ce432-7166-2581-e053-d805fe0acbaa 1
Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis, file e27ce434-aeb3-2581-e053-d805fe0acbaa 1
Psychopathology and Adaptive Functioning in Children, Adolescents, and Young Adults with Noonan Syndrome, file e27ce435-0212-2581-e053-d805fe0acbaa 1
Totale 5348
Categoria #
all - tutte 5914
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 5914


Totale Lug Ago Sett Ott Nov Dic Gen Feb Mar Apr Mag Giu
2017/2018107 0000 021 1316 1715169
2018/2019657 16242027 2114 2566 55103164122
2019/20201159 1056268149 74116 99116 141818167
2020/20211440 45131163140 140156 140125 1039982116
2021/20221247 1109780132 10860 8082 6984223122
2022/2023419 506123672 00 00 0000
Totale 5348