| Nome |
# |
|
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population, file e1dcb337-8bb3-7715-e053-1705fe0a6cc9
|
906
|
|
The continuity of effect of schizophrenia polygenic risk score and patterns of cannabis use on transdiagnostic symptom dimensions at first-episode psychosis: findings from the EU-GEI study, file 47a87e63-0e0a-47f5-a39e-54ca05fda2f3
|
400
|
|
INPP4B overexpression and c-KIT downregulation in human achalasia., file e1dcb336-c7f9-7715-e053-1705fe0a6cc9
|
217
|
|
Mutant MYO1F alters the mitochondrial network and induces tumor proliferation in thyroid cancer, file e1dcb333-f945-7715-e053-1705fe0a6cc9
|
171
|
|
An increased burden of rare exonic variants in NRXN1 microdeletion carriers is likely to enhance the penetrance for autism spectrum disorder., file e1dcb337-6bb6-7715-e053-1705fe0a6cc9
|
153
|
|
Maternally inherited genetic variants of CADPS2 are present in Autism Spectrum Disorders and Intellectual Disability patients., file e1dcb331-9377-7715-e053-1705fe0a6cc9
|
123
|
|
Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Characterization of a Complex Genetic Architecture in a Subset of Families, file e1dcb335-52e6-7715-e053-1705fe0a6cc9
|
122
|
|
Genomic profiles of primary and metastatic esophageal adenocarcinoma identified via digital sorting of pure cell populations: Results from a case report, file e1dcb332-48ad-7715-e053-1705fe0a6cc9
|
104
|
|
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy., file e1dcb332-b5c6-7715-e053-1705fe0a6cc9
|
103
|
|
Identification of BRCA1/2 p.Ser1613Gly, p.Pro871Leu, p.Lys1183Arg, p.Glu1038Gly, p.Ser1140Gly, p.Ala2466Val, p.His2440Arg variants in women under 45 years old with breast nodules suspected of having breast cancer in Burkina Faso, file e1dcb335-c917-7715-e053-1705fe0a6cc9
|
100
|
|
Genetics in Familial Intrahepatic Cholestasis: Clinical Patterns and Development of Liver and Biliary Cancers: A Review of the Literature, file a4dd1076-9abe-4905-8d5e-3e07d384fbcf
|
98
|
|
Cytogenetic and molecular characterization of a recombinant X chromosome in a family with a severe neurologic phenotype and macular degeneration, file e1dcb32c-dce3-7715-e053-1705fe0a6cc9
|
98
|
|
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21, file e1dcb333-4408-7715-e053-1705fe0a6cc9
|
89
|
|
5′UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia, file e1dcb335-2dd6-7715-e053-1705fe0a6cc9
|
88
|
|
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies, file e1dcb334-a924-7715-e053-1705fe0a6cc9
|
82
|
|
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy, file e1dcb335-6972-7715-e053-1705fe0a6cc9
|
76
|
|
Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations, file e1dcb335-9070-7715-e053-1705fe0a6cc9
|
74
|
|
Epilepsy with auditory features: A heterogeneous clinico-molecular disease, file e1dcb32d-a5af-7715-e053-1705fe0a6cc9
|
60
|
|
P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9, file e1dcb333-178e-7715-e053-1705fe0a6cc9
|
56
|
|
Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study, file e1dcb332-a955-7715-e053-1705fe0a6cc9
|
55
|
|
A regional audit system for stillbirth: A way to better understand the phenomenon, file e1dcb335-a8ce-7715-e053-1705fe0a6cc9
|
55
|
|
Clinical and pathogenetic features of ETV6 related thrombocytopenia with predisposition to acute lymphoblastic leukemia, file e1dcb336-1ce9-7715-e053-1705fe0a6cc9
|
52
|
|
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population, file e1dcb337-8bb2-7715-e053-1705fe0a6cc9
|
52
|
|
Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction., file e1dcb339-e3b7-7715-e053-1705fe0a6cc9
|
51
|
|
Hereditary spastic paraplegia is a common phenotypic finding in ARG1 deficiency, P5CS deficiency and HHH syndrome: Three inborn errors of metabolism caused by alteration of an interconnected pathway of glutamate and urea cycle metabolism, file e1dcb333-178c-7715-e053-1705fe0a6cc9
|
50
|
|
Systematic reanalysis of partial trisomy 21 cases with or without Down syndrome suggests a small region on 21q22.13 as critical to the phenotype, file e1dcb32f-c8fb-7715-e053-1705fe0a6cc9
|
48
|
|
5′UTR point substitutions and N-terminal truncating mutations of ANKRD26 in acute myeloid leukemia, file e1dcb335-2dd7-7715-e053-1705fe0a6cc9
|
48
|
|
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes, file e1dcb339-a6e8-7715-e053-1705fe0a6cc9
|
41
|
|
Immune cytopenias as a continuum in inborn errors of immunity: An in-depth clinical and immunological exploration, file e1dcb338-f930-7715-e053-1705fe0a6cc9
|
31
|
|
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population, file e1dcb337-8bb4-7715-e053-1705fe0a6cc9
|
30
|
|
SDHA Germline Variants in Adult Patients With SDHA-Mutant Gastrointestinal Stromal Tumor, file e1dcb338-d0df-7715-e053-1705fe0a6cc9
|
29
|
|
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders, file e1dcb337-6ce0-7715-e053-1705fe0a6cc9
|
27
|
|
ACE2 gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population, file e1dcb337-8c8d-7715-e053-1705fe0a6cc9
|
27
|
|
Characterization of Cognitive, Language and Adaptive Profiles of Children and Adolescents with Malan Syndrome, file 2e51da2f-ce4f-4a05-ab87-b50beb2b3fab
|
23
|
|
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21, file e1dcb335-45e6-7715-e053-1705fe0a6cc9
|
22
|
|
Contribution of ultrarare variants in mTOR pathway genes to sporadic focal epilepsies, file e1dcb334-a925-7715-e053-1705fe0a6cc9
|
21
|
|
Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations, file e1dcb336-4105-7715-e053-1705fe0a6cc9
|
20
|
|
The continuity of effect of schizophrenia polygenic risk score and patterns of cannabis use on transdiagnostic symptom dimensions at first-episode psychosis: findings from the EU-GEI study, file e1dcb339-ca1a-7715-e053-1705fe0a6cc9
|
19
|
|
Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations, file e1dcb336-3d73-7715-e053-1705fe0a6cc9
|
18
|
|
Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association, file f9a07972-285c-4834-a921-25a2eb23885e
|
16
|
|
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy, file b34a4590-1adb-429a-a236-7032a4b5927a
|
15
|
|
AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics, file d55b984f-d5ca-47a8-832a-abcb39f0b9c1
|
15
|
|
Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only, file dd8faf52-98f5-402d-a892-fad4b1748a71
|
15
|
|
P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9, file e1dcb335-c3d6-7715-e053-1705fe0a6cc9
|
14
|
|
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup, file e991dfdd-7e16-4144-aeec-595fefa0801c
|
14
|
|
Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations, file e1dcb336-3d74-7715-e053-1705fe0a6cc9
|
13
|
|
Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations, file e1dcb336-4103-7715-e053-1705fe0a6cc9
|
13
|
|
Targeted Sequencing of Sorted Esophageal Adenocarcinoma Cells Unveils Known and Novel Mutations in the Separated Subpopulations, file e1dcb336-4104-7715-e053-1705fe0a6cc9
|
13
|
|
Mutations in RAD21 Disrupt Regulation of APOB in Patients With Chronic Intestinal Pseudo-Obstruction., file e1dcb339-e3b8-7715-e053-1705fe0a6cc9
|
12
|
|
Genome-Wide DNA Methylation Profiling Solves Uncertainty in Classifying NSD1 Variants, file 7225f0b9-1a38-4c6a-9bea-8a9d35e887c6
|
11
|
|
Immune cytopenias as a continuum in inborn errors of immunity: An in-depth clinical and immunological exploration, file 93c54c13-78a3-43a5-91fb-99f8b7200fb5
|
11
|
|
Olfactory Receptor-Related Duplicons Mediate a Microdeletion at 11q13.2q13.4 Associated with a Syndromic Phenotype., file e1dcb32d-24ed-7715-e053-1705fe0a6cc9
|
11
|
|
Exploration of Tools for the Interpretation of Human Non-Coding Variants, file 1455750b-f332-44f1-a870-f09f503ac097
|
10
|
|
Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of SRC, file 33efdf61-0222-4dd5-adf1-d62903307c37
|
10
|
|
Autozygosity-driven genetic diagnosis in consanguineous families from Italy and the Greater Middle East, file dfa86ccc-b1cc-4c73-9ddd-582bcfb305ab
|
10
|
|
Definition of the neurological phenotype associated with dup (X) (p11.22-p11.23)., file e1dcb32f-2ccf-7715-e053-1705fe0a6cc9
|
10
|
|
Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4: A Cross-sectional Study by the Italian DAISY Network, file 0a16ad10-87a8-4606-b890-5fddd9007bfa
|
8
|
|
MR Brain Screening in ADPKD Patients, file e1dcb338-f3f3-7715-e053-1705fe0a6cc9
|
8
|
|
A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report, file 1adc98a6-e290-4871-82b5-1b5035703d77
|
7
|
|
Lights and shadows in the genetics of syndromic and non-syndromic hearing loss in the Italian population, file c6930b3b-ba57-473c-a35f-5cc87a9bfb1e
|
7
|
|
A novel p63 mutation in a fetus with ultrasound detection of split hand/foot malformation., file e1dcb32c-0570-7715-e053-1705fe0a6cc9
|
7
|
|
Partial trisomy 21 map: Ten cases further supporting the highly restricted Down syndrome critical region (HR-DSCR) on human chromosome 21, file e1dcb335-222c-7715-e053-1705fe0a6cc9
|
7
|
|
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome, file ffc98b17-c1a3-4a6b-8e7e-0c3b963d8220
|
7
|
|
A restricted spectrum of missense KMT2D variants cause a multiple malformations disorder distinct from Kabuki syndrome, file 3f00345b-2eba-4965-b795-0d300d950fa7
|
6
|
|
Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of SRC, file 480ccb0b-4a96-4083-a9a2-90ef36d2e45f
|
6
|
|
Pathogenetic and clinical study of a patient with thrombocytopenia due to the p.E527K gain-of-function variant of SRC, file 86598304-9779-417e-8f01-acba03b1ce9f
|
6
|
|
Partial trisomy 21 with or without highly restricted Down syndrome critical region (HR-DSCR): report of two new cases and reanalysis of the genotype-phenotype association, file 9df30eca-7c08-4e29-9fe5-f8be01e75b1e
|
5
|
|
Messenger RNA processing is altered in autosomal dominant leukodystrophy, file e1dcb32c-8a23-7715-e053-1705fe0a6cc9
|
5
|
|
Su1852 The 5-HT4 Selective Agonist Prucalopride Exerts Neural and Epithelial Protective Effects In Vitro, file e1dcb330-35da-7715-e053-1705fe0a6cc9
|
5
|
|
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy, file e1dcb338-a379-7715-e053-1705fe0a6cc9
|
5
|
|
Mutant SPART causes defects in mitochondrial protein import and bioenergetics reversed by Coenzyme Q, file fc763765-0a5c-41f5-9ade-4cbf0deafdd0
|
4
|
|
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation, file 640af4dd-4370-46b4-9854-a1dbcdf1cea3
|
3
|
|
SSBP1 mutations cause mtDNA depletion underlying a complex optic atrophy disorder, file 7e62d7bc-3575-4815-bcaa-aa5a011395b6
|
3
|
|
A deep phenotyping experience: up to date in management and diagnosis of Malan syndrome in a single center surveillance report, file cdbaf823-6101-4dbb-9313-2fe5c7b8e89f
|
3
|
|
AUDACITY: A comprehensive approach for the detection and classification of Runs of Homozygosity in medical and population genomics, file d42fc550-56aa-412a-85f7-9fd15cc5c86b
|
3
|
|
Δ1 -Pyrroline-5-carboxylate synthetase (P5CS) deficiency: An emergent multifaceted urea cycle-related disorder, file e1dcb334-181b-7715-e053-1705fe0a6cc9
|
3
|
|
Epilepsy with auditory features: A heterogeneous clinico-molecular disease, file e1dcb335-7a63-7715-e053-1705fe0a6cc9
|
3
|
|
Differences in Patterns of Stimulant Use and Their Impact on First-Episode Psychosis Incidence: An Analysis of the EUGEI Study, file 02d9f21c-7d86-4278-93e2-7f25d79a37fc
|
2
|
|
Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel GFI1B germline mutation, file 614f41fb-8c5d-43c3-8638-51d8d9e2fa3e
|
2
|
|
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19, file 8e5e1aab-397c-4ea0-8517-eb93df747bf3
|
2
|
|
Molecular and Clinical Links between Drug-Induced Cholestasis and Familial Intrahepatic Cholestasis, file 8ea9aabc-769a-4edd-acb9-c74dba9b8f01
|
2
|
|
null, file e1dcb32e-e887-7715-e053-1705fe0a6cc9
|
2
|
|
Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early-onset arteriopathy and cavitating leukoencephalopathy, file e1dcb335-6974-7715-e053-1705fe0a6cc9
|
2
|
|
Loss of function mutations in CCDC32 cause a congenital syndrome characterized by craniofacial, cardiac and neurodevelopmental anomalies, file e1dcb335-e0ca-7715-e053-1705fe0a6cc9
|
2
|
|
Loss-of-function mutations in PTPRJ cause a new form of inherited thrombocytopenia, file e1dcb337-6cdd-7715-e053-1705fe0a6cc9
|
2
|
|
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis, file e1dcb337-89a9-7715-e053-1705fe0a6cc9
|
2
|
|
SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability, file fdec59fa-b7d6-48a5-ac10-c2fdc8517254
|
2
|
|
Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy, file 304c2e0a-8a52-4554-8c65-5c4690ec1d5a
|
1
|
|
Rare predicted loss-of-function variants of type I IFN immunity genes are associated with life-threatening COVID-19, file 3e21cf9d-bf89-4573-9525-7aa48b4eb4d9
|
1
|
|
Ultra-Rare Variants Identify Biological Pathways and Candidate Genes in the Pathobiology of Non-Syndromic Cleft Palate Only, file 720d1229-6cec-4f1b-b538-cd05171ee16b
|
1
|
|
Exome sequencing in 116 patients with inherited thrombocytopenia that remained of unknown origin after systematic phenotype-driven diagnostic workup, file 8a7341a6-63a7-44f0-9c89-06c0090fcaa5
|
1
|
|
Differences in Patterns of Stimulant Use and Their Impact on First-Episode Psychosis Incidence: An Analysis of the EUGEI Study, file a7fdb863-0b9f-4e47-aee3-1aa302d4c53b
|
1
|
|
miRNA–221 and miRNA–483–3p Dysregulation in Esophageal Adenocarcinoma, file c98c315d-4ee4-457d-9e0b-6d872b7158c0
|
1
|
|
Epilepsy in Mowat-Wilson syndrome: Delineation of the electroclinical phenotype., file e1dcb32d-1bde-7715-e053-1705fe0a6cc9
|
1
|
|
Identifying Gene-Environment Interactions in Schizophrenia: Contemporary Challenges for Integrated, Large-scale Investigations, file e1dcb32d-41be-7715-e053-1705fe0a6cc9
|
1
|
|
Identifying Gene-Environment Interactions in Schizophrenia: Contemporary Challenges for Integrated, Large-scale Investigations, file e1dcb32d-44dd-7715-e053-1705fe0a6cc9
|
1
|
|
A novel founder MYO15A frameshift duplication is the major cause of genetic hearing loss in Oman, file e1dcb32e-aa71-7715-e053-1705fe0a6cc9
|
1
|
|
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 e1dcb332-9eba-7715-e053-1705fe0a6cc9
|
1
|
|
Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes, file e1dcb336-1d2f-7715-e053-1705fe0a6cc9
|
1
|
|
null, file e1dcb337-511c-7715-e053-1705fe0a6cc9
|
1
|
| Totale |
4.196 |