| Nome |
# |
|
Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels, file e2913fdd-299b-f688-e053-3705fe0a67e0
|
1.067
|
|
Cx26 partial loss causes accelerated presbycusis by redox imbalance and dysregulation of Nfr2 pathway, file e2913fdc-4c9b-f688-e053-3705fe0a67e0
|
274
|
|
Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss, file 1bb99930-e559-4e52-bb13-3a62a79a0f21
|
236
|
|
Mutations in L-type amino acid transporter-2 support SLC7A8 as a novel gene involved in age-related hearing loss, file e2913fdc-104e-f688-e053-3705fe0a67e0
|
229
|
|
Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy Number Variations, file e2913fdc-7082-f688-e053-3705fe0a67e0
|
217
|
|
Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection, file e2913fdc-34a6-f688-e053-3705fe0a67e0
|
178
|
|
Identification of 371 genetic variants for age at first sex and birth linked to externalising behaviour, file e2913fde-c62b-f688-e053-3705fe0a67e0
|
171
|
|
Association of SNPs in LCP1 and CTIF with hearing in 11 year old children: Findings from the Avon Longitudinal Study of Parents and Children (ALSPAC) birth cohort and the G-EAR consortium, file e2913fdb-394d-f688-e053-3705fe0a67e0
|
151
|
|
Genome-wide association analysis on normal hearing function identifies PCDH20 and SLC28A3 as candidates for hearing function and loss, file e2913fda-b346-f688-e053-3705fe0a67e0
|
139
|
|
Next-generation sequencing identified SPATC1L as a possible candidate gene for both early-onset and age-related hearing loss, file e2913fdc-822b-f688-e053-3705fe0a67e0
|
138
|
|
The p.Cys169Tyr variant of connexin 26 is not a polymorphism, file e2913fd9-a94f-f688-e053-3705fe0a67e0
|
135
|
|
Next Generation Sequencing and Animal Models Reveal SLC9A3R1 as a New Gene Involved in Human Age-Related Hearing Loss, file e2913fdc-7405-f688-e053-3705fe0a67e0
|
131
|
|
PSIP1/LEDGF: A new gene likely involved in sensorineural progressive hearing loss, file e2913fda-70dd-f688-e053-3705fe0a67e0
|
127
|
|
Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment, file e2913fdc-e1a3-f688-e053-3705fe0a67e0
|
125
|
|
Pharmacogenetics driving personalized medicine: Analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations, file e2913fda-8fd9-f688-e053-3705fe0a67e0
|
124
|
|
TTC5 syndrome: Clinical and molecular spectrum of a severe and recognizable condition, file 237a4139-a794-48b3-b5b7-b90a0937906a
|
83
|
|
Primary Ciliary Dyskinesia: The Impact of Taste Receptor (TAS2R38) Gene Polymorphisms on Disease Outcome and Severity, file e2913fdf-9e10-f688-e053-3705fe0a67e0
|
82
|
|
Usher syndrome: An effective sequencing approach to establish a genetic and clinical diagnosis, file e2913fdf-314d-f688-e053-3705fe0a67e0
|
79
|
|
Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin, file 2ef4a50f-e72d-4986-a622-cfb8ae1d2b86
|
76
|
|
Functional analysis of candidate genes from genome-wide association studies of hearing, file e2913fdd-65b3-f688-e053-3705fe0a67e0
|
73
|
|
Prognostic Prediction of Genotype vs Phenotype in Genetic Cardiomyopathies, file b0e9a5c9-c8eb-4279-af3f-4c444ec2a703
|
62
|
|
Impact of cultural and genetic structure on food choices along the Silk Road, file 17ca387b-6637-4ebd-9d17-487bb23e837e
|
58
|
|
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals, file b5247d59-d36f-4c89-95a1-3c57523047b2
|
55
|
|
Non-syndromic autosomal dominant hearing loss: The first italian family carrying a mutation in the NCOA3 gene, file e2913fde-92db-f688-e053-3705fe0a67e0
|
55
|
|
New age-related hearing loss candidate genes in humans: an ongoing challenge, file e2913fdd-7e8b-f688-e053-3705fe0a67e0
|
53
|
|
A bird’s-eye view of Italian genomic variation through whole-genome sequencing, file e2913fdd-832b-f688-e053-3705fe0a67e0
|
50
|
|
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population, file 087a70e8-cd75-4c07-ae29-078fa0317eb8
|
49
|
|
New age-related hearing loss candidate genes in humans: an ongoing challenge, file e2913fdd-90a5-f688-e053-3705fe0a67e0
|
49
|
|
Pharmacogenetics driving personalized medicine: Analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations, file e2913fda-8dee-f688-e053-3705fe0a67e0
|
46
|
|
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss, file e2913fdf-33f0-f688-e053-3705fe0a67e0
|
43
|
|
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders, file a0645099-df64-4da6-95bb-160f5aece7ac
|
37
|
|
The power of genetic diversity in genome-wide association studies of lipids, file e2913fdf-81f6-f688-e053-3705fe0a67e0
|
37
|
|
PSIP1/LEDGF: A new gene likely involved in sensorineural progressive hearing loss, file e2913fda-7da3-f688-e053-3705fe0a67e0
|
36
|
|
1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function, file e2913fdc-1557-f688-e053-3705fe0a67e0
|
35
|
|
Genome-wide association study in almost 195,000 individuals identifies 50 previously unidentified genetic loci for eye color, file e2913fde-586e-f688-e053-3705fe0a67e0
|
33
|
|
Genome-wide analysis identifies 12 loci influencing human reproductive behavior., file e2913fde-ef90-f688-e053-3705fe0a67e0
|
32
|
|
A saturated map of common genetic variants associated with human height, file 78e07c8b-9c43-4d37-a843-bad58c75086f
|
31
|
|
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss, file e2913fdf-3bd7-f688-e053-3705fe0a67e0
|
31
|
|
Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney, file e2913fdf-258f-f688-e053-3705fe0a67e0
|
30
|
|
Whole-exome sequencing: Clinical characterization of pediatric and adult Italian patients affected by different forms of hereditary cardiovascular diseases, file f50b394e-f924-4aae-bfa0-1467e26e95e2
|
29
|
|
Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease, file cb6beef4-75ed-4121-b89c-a85dd6159f46
|
28
|
|
Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci, file e2913fdf-0d5b-f688-e053-3705fe0a67e0
|
28
|
|
Pharmacogenetics driving personalized medicine: Analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations, file e2913fda-95c0-f688-e053-3705fe0a67e0
|
27
|
|
Associations of autozygosity with a broad range of human phenotypes, file e2913fdd-4e02-f688-e053-3705fe0a67e0
|
27
|
|
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals, file 207b0075-829e-4907-8819-67a2aefd7f50
|
26
|
|
Ancestry-related distribution of Runs of homozygosity and functional variants in Qatari population, file bc8fc249-921f-4165-b88c-4da43d14f1f7
|
26
|
|
Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals, file 82269d83-9d6b-455e-8519-3652c28c90aa
|
25
|
|
Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis, file 35d06e12-b423-4982-92c4-8f25c1e757f7
|
23
|
|
Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk, file e2913fde-ef91-f688-e053-3705fe0a67e0
|
23
|
|
Genetic Risk Score for Intracranial Aneurysms: Prediction of Subarachnoid Hemorrhage and Role in Clinical Heterogeneity, file c1c8e8ea-c2c5-4d0a-a0ad-877f0fd6e59a
|
22
|
|
Associations of autozygosity with a broad range of human phenotypes, file e2913fdd-8257-f688-e053-3705fe0a67e0
|
22
|
|
Natural human knockouts and Mendelian disorders: deep phenotyping in Italian isolates, file e2913fde-b72d-f688-e053-3705fe0a67e0
|
22
|
|
Genetic dissection of temperament personality traits in Italian isolates, file e2913fde-f3fc-f688-e053-3705fe0a67e0
|
21
|
|
Pharmacogenetics driving personalized medicine: Analysis of genetic polymorphisms related to breast cancer medications in Italian isolated populations, file e2913fda-91c0-f688-e053-3705fe0a67e0
|
20
|
|
Genetics, odor perception and food liking: The intriguing role of cinnamon, file e2913fde-335c-f688-e053-3705fe0a67e0
|
20
|
|
Effects of Calcium, Magnesium, and Potassium Concentrations on Ventricular Repolarization in Unselected Individuals., file e2913fdf-53e7-f688-e053-3705fe0a67e0
|
18
|
|
Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways, file 8723dc08-9e75-4b40-9242-44b9a90c3eb8
|
17
|
|
Chronic Rhinosinusitis: T2r38 Genotyping and Nasal Cytology in Primary Ciliary Dyskinesia, file d74ae46e-de18-45b8-a984-2fb1c89738ff
|
17
|
|
Corrigendum: 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function, file e2913fdd-aa95-f688-e053-3705fe0a67e0
|
17
|
|
Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population, file e2913fdd-d3d2-f688-e053-3705fe0a67e0
|
17
|
|
Erratum to: Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (Nature Genetics, (2018), 50, 10, (1412-1425), 10.1038/s41588-018-0205-x), file e2913fdf-4e02-f688-e053-3705fe0a67e0
|
17
|
|
Implicating genes, pleiotropy, and sexual dimorphism at blood lipid loci through multi-ancestry meta-analysis, file 1c8b1713-0c41-439d-aaca-0e5a8de73c7b
|
16
|
|
Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss, file 623aa8e9-1a24-4594-a810-e89c8c1e63b0
|
16
|
|
Hearing Function: Identification of New Candidate Genes Further Explaining the Complexity of This Sensory Ability, file e2913fde-26fa-f688-e053-3705fe0a67e0
|
16
|
|
Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease, file 0fe90d7e-313c-454a-95a3-6c84ff28742a
|
15
|
|
Long QT syndrome and left ventricular non-compaction in a family with KCNH2 mutation: A case report, file a1ce2120-9856-49fb-910f-c21e297fb8b7
|
15
|
|
Identifying missing pieces in color vision defects: a genome-wide association study in Silk Road populations, file cd9b28db-d086-40bd-bc99-30d68f9a9ced
|
15
|
|
Non-syndromic sensorineural prelingual and postlingual hearing loss due to col11a1 gene mutation, file e2913fde-82f2-f688-e053-3705fe0a67e0
|
15
|
|
Differential and shared genetic effects on kidney function between diabetic and non-diabetic individuals, file 3aeb2f35-a1d6-4f8f-afe1-9f26ef6d1e27
|
13
|
|
The Enigmatic Genetic Landscape of Hereditary Hearing Loss: A Multistep Diagnostic Strategy in the Italian Population, file 6b71bff5-e636-4393-a7e4-f5286d050e78
|
13
|
|
Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment, file e2913fdd-140c-f688-e053-3705fe0a67e0
|
13
|
|
Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment, file e2913fdd-140d-f688-e053-3705fe0a67e0
|
13
|
|
The role of knockout olfactory receptor genes in odor discrimination, file e2913fde-2265-f688-e053-3705fe0a67e0
|
13
|
|
High Throughput Genetic Characterisation of Caucasian Patients Affected by Multi-Drug Resistant Rheumatoid or Psoriatic Arthritis, file 4a963294-d9c4-44fc-b2bb-d3cf96b35ad4
|
12
|
|
Challenging Occam's Razor: Dual Molecular Diagnoses Explain Entangled Clinical Pictures, file abedc3fe-edde-4985-a7fb-f85977d5b8c8
|
12
|
|
Pendred syndrome, or not pendred syndrome? That is the question, file e2913fde-db36-f688-e053-3705fe0a67e0
|
12
|
|
There Is More Than Meets the Eye: Identification of Dual Molecular Diagnosis in Patients Affected by Hearing Loss, file e2913fdf-3bd6-f688-e053-3705fe0a67e0
|
12
|
|
Prognostic Prediction of Genotype vs Phenotype in Genetic Cardiomyopathies, file ba1aa3f1-88f3-4e0e-bdd9-b28b4f952923
|
11
|
|
Sensory Capacities and Eating Behavior: Intriguing Results from a Large Cohort of Italian Individuals, file cde018a8-e81b-4adf-93a5-27740bf36dd4
|
11
|
|
Odontostomatological Traits in North-Eastern Italy's Isolated Populations: An Epidemiological Cross-Sectional Study, file e0911384-6c0c-4332-b652-b5163c08d4f2
|
11
|
|
Publisher Correction: Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability (Nature Genetics, (2018), 50, 5, (652-656), 10.1038/s41588-018-0100-5), file e2913fdf-4dfe-f688-e053-3705fe0a67e0
|
11
|
|
Haploinsufficiency as a Foreground Pathomechanism of Poirer-Bienvenu Syndrome and Novel Insights Underlying the Phenotypic Continuum of CSNK2B-Associated Disorders, file 1387fba6-ea05-4eeb-808b-7853c0d1c109
|
10
|
|
The power of genetic diversity in genome-wide association studies of lipids, file e2913fdf-2b28-f688-e053-3705fe0a67e0
|
10
|
|
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids, file fd256925-b106-4df6-87e1-8ba977bd06da
|
10
|
|
Ancestry-related distribution of Runs of homozygosity and functional variants in Qatari population, file 17374c94-bc9e-441f-9ab1-9f7a1a048313
|
8
|
|
Genetic Risk Score for Intracranial Aneurysms: Prediction of Subarachnoid Hemorrhage and Role in Clinical Heterogeneity, file 1a5ee90c-2b3a-4700-abf9-4eaf37d06f51
|
8
|
|
Il Registro Regionale delle Morti Cardiache Improvvise in età giovanile del Friuli Venezia Giulia. Protocolli operativi e risultati di un progetto multidisciplinare, file 747bf26a-7312-47e0-81ac-7de423771d01
|
8
|
|
Novel Blood Pressure Locus and Gene Discovery Using Genome-Wide Association Study and Expression Data Sets From Blood and the Kidney, file e2913fdb-a0a6-f688-e053-3705fe0a67e0
|
8
|
|
Effects of Calcium, Magnesium, and Potassium Concentrations on Ventricular Repolarization in Unselected Individuals., file e2913fdd-015f-f688-e053-3705fe0a67e0
|
8
|
|
Genome-wide association meta-analysis identifies five novel loci for age-related hearing impairment, file e2913fdd-140b-f688-e053-3705fe0a67e0
|
8
|
|
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals, file d32b344a-1129-4f5a-aabe-c63b62a555de
|
7
|
|
A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids, file 2510b2b7-7f53-4e0b-8b31-3a39c7b57b3e
|
6
|
|
Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss, file 390ea9f1-6e02-451e-99b4-2ae102f88cef
|
6
|
|
Genome-wide association meta-analysis identifies 48 risk variants and highlights the role of the stria vascularis in hearing loss, file 7456746a-8536-48a9-b265-eb2422dd5f1e
|
6
|
|
TBC1D24 and non-syndromic autosomal dominant hearing loss: the identification of an additional Italo-American family carrying the p.(S178L) mutation, file 789d2df8-1b0f-499f-bd3c-27acae84c43f
|
6
|
|
Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort, file de0c10b1-d48c-4e55-8b2e-7123a6a7a4a8
|
6
|
|
Genome-wide association analysis identifies novel blood pressure loci and offers biological insights into cardiovascular risk, file e2913fdb-785d-f688-e053-3705fe0a67e0
|
6
|
|
Publisher Correction: Genome-wide association meta-analysis of individuals of European ancestry identifies new loci explaining a substantial fraction of hair color variation and heritability (Nature Genetics, (2018), 50, 5, (652-656), 10.1038/s41588-018-0100-5), file e2913fdd-7c77-f688-e053-3705fe0a67e0
|
6
|
|
Puzzling Out the Genetic Architecture of Endometriosis: Whole-Exome Sequencing and Novel Candidate Gene Identification in a Deeply Clinically Characterised Cohort, file e30dff07-45ae-42ff-bee7-f6a4417b0809
|
6
|
|
Polygenic prediction of educational attainment within and between families from genome-wide association analyses in 3 million individuals, file 4f6871af-8f1a-4978-a475-945d001e594f
|
5
|
| Totale |
5.552 |