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Overexpression of H2AFX gene in neuroblastoma is associated with worse prognosis.
- Published in:
- Pediatric Blood & Cancer, 2024, v. 71, n. 9, p. 1, doi. 10.1002/pbc.31146
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- Publication type:
- Article
The clinical and genetic spectrum of inherited glycosylphosphatidylinositol deficiency disorders.
- Published in:
- Brain: A Journal of Neurology, 2024, v. 147, n. 8, p. 2775, doi. 10.1093/brain/awae056
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- Publication type:
- Article
Expanding the phenotype of UPF3B‐related disorder: Case reports and literature review.
- Published in:
- American Journal of Medical Genetics. Part A, 2024, v. 194, n. 6, p. 1, doi. 10.1002/ajmg.a.63534
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- Publication type:
- Article
Clinical features, functional consequences, and rescue pharmacology of missense GRID1 and GRID2 human variants.
- Published in:
- Human Molecular Genetics, 2024, v. 33, n. 4, p. 355, doi. 10.1093/hmg/ddad188
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- Publication type:
- Article
Case Report: Novel biallelic moderately damaging variants in RTTN in a patient with cerebellar dysplasia.
- Published in:
- Frontiers in Pediatrics, 2024, p. 1, doi. 10.3389/fped.2023.1326552
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- Publication type:
- Article
Refining the electroclinical spectrum of NPRL3‐related epilepsy: A novel multiplex family and literature review.
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- Epilepsia Open, 2023, v. 8, n. 4, p. 1314, doi. 10.1002/epi4.12798
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- Publication type:
- Article
A novel de novo variant in POLR3B gene associated with a primary axonal involvement of the largest nerve fibers.
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- Journal of the Peripheral Nervous System, 2023, v. 28, n. 4, p. 620, doi. 10.1111/jns.12602
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- Publication type:
- Article
Neuroblastoma Patients' Outcome and Chromosomal Instability.
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- International Journal of Molecular Sciences, 2023, v. 24, n. 21, p. 15514, doi. 10.3390/ijms242115514
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- Publication type:
- Article
ATP12A Proton Pump as an Emerging Therapeutic Target in Cystic Fibrosis and Other Respiratory Diseases.
- Published in:
- Biomolecules (2218-273X), 2023, v. 13, n. 10, p. 1455, doi. 10.3390/biom13101455
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- Publication type:
- Article
Testing for pharmacogenomic predictors of ppRNFL thinning in individuals exposed to vigabatrin.
- Published in:
- Frontiers in Neuroscience, 2023, p. 01, doi. 10.3389/fnins.2023.1156362
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- Publication type:
- Article
Widespread genomic influences on phenotype in Dravet syndrome, a 'monogenic' condition.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 9, p. 3885, doi. 10.1093/brain/awad111
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- Publication type:
- Article
Novel biallelic variants expand the phenotype of NAA20‐related syndrome.
- Published in:
- Clinical Genetics, 2023, v. 104, n. 3, p. 371, doi. 10.1111/cge.14359
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- Publication type:
- Article
A real‐life pilot study of the clinical application of pharmacogenomics testing on saliva in epilepsy.
- Published in:
- Epilepsia Open, 2023, v. 8, n. 3, p. 1142, doi. 10.1002/epi4.12717
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- Publication type:
- Article
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing.
- Published in:
- Molecular Syndromology, 2023, v. 14, n. 5, p. 433, doi. 10.1159/000529408
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- Publication type:
- Article
Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.
- Published in:
- Epilepsia (Series 4), 2023, v. 64, p. S14, doi. 10.1111/epi.17610
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- Publication type:
- Article
Somatic Double Inactivation of NF1 Associated with NF1-Related Pectus Excavatum Deformity.
- Published in:
- Human Mutation, 2023, p. 1, doi. 10.1155/2023/3160653
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- Publication type:
- Article
Multiple Genes with Potential Tumor Suppressive Activity Are Present on Chromosome 10q Loss in Neuroblastoma and Are Associated with Poor Prognosis.
- Published in:
- Cancers, 2023, v. 15, n. 7, p. 2035, doi. 10.3390/cancers15072035
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- Publication type:
- Article
Clinical Consequences and Functional Impact of the Rare S737F CFTR Variant and Its Responsiveness to CFTR Modulators.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 7, p. 6576, doi. 10.3390/ijms24076576
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- Publication type:
- Article
Moyamoya Vasculopathy in Neurofibromatosis Type 1 Pediatric Patients: The Role of Rare Variants of RNF213.
- Published in:
- Cancers, 2023, v. 15, n. 6, p. 1916, doi. 10.3390/cancers15061916
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- Publication type:
- Article
De novo KCNA6 variants with attenuated K<sub>V</sub>1.6 channel deactivation in patients with epilepsy.
- Published in:
- Epilepsia (Series 4), 2023, v. 64, n. 2, p. 443, doi. 10.1111/epi.17455
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- Publication type:
- Article
Biallelic ZBTB11 variants associated with complex neuropsychiatric phenotype featuring Tourette syndrome.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 1, p. e1, doi. 10.1093/brain/awac323
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- Publication type:
- Article
Clinical and genetic analysis of patients with segmental overgrowth features and somatic mammalian target of rapamycin (mTOR) pathway disruption: Possible novel clinical issues.
- Published in:
- Birth Defects Research, 2022, v. 114, n. 20, p. 1440, doi. 10.1002/bdr2.2113
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- Publication type:
- Article
Long term follow-up in two siblings with Sengers syndrome: Case report.
- Published in:
- Italian Journal of Pediatrics, 2022, v. 48, n. 1, p. 1, doi. 10.1186/s13052-022-01370-y
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- Publication type:
- Article
E2F3 gene expression is a potential negative prognostic marker for localised and MYCN not‐amplified neuroblastoma: Results of in silico analysis of 786 samples.
- Published in:
- Pediatric Blood & Cancer, 2022, v. 69, n. 10, p. 1, doi. 10.1002/pbc.29800
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- Publication type:
- Article
Vesicular Glutamate Release from Feeder-FreehiPSC-Derived Neurons.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 18, p. N.PAG, doi. 10.3390/ijms231810545
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- Publication type:
- Article
Ocular phenotype and electroretinogram abnormalities in Lafora disease and correlation with disease stage.
- Published in:
- Journal of Neurology, 2022, v. 269, n. 7, p. 3597, doi. 10.1007/s00415-022-10974-7
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- Publication type:
- Article
Genomic Analysis Made It Possible to Identify Gene-Driver Alterations Covering the Time Window between Diagnosis of Neuroblastoma 4S and the Progression to Stage 4.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 12, p. 6513, doi. 10.3390/ijms23126513
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- Publication type:
- Article
A pharmacogenomic assessment of psychiatric adverse drug reactions to levetiracetam.
- Published in:
- Epilepsia (Series 4), 2022, v. 63, n. 6, p. 1563, doi. 10.1111/epi.17228
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- Publication type:
- Article
Targeting of Ubiquitin E3 Ligase RNF5 as a Novel Therapeutic Strategy in Neuroectodermal Tumors.
- Published in:
- Cancers, 2022, v. 14, n. 7, p. 1802, doi. 10.3390/cancers14071802
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- Publication type:
- Article
The L467F-F508del Complex Allele Hampers Pharmacological Rescue of Mutant CFTR by Elexacaftor/Tezacaftor/Ivacaftor in Cystic Fibrosis Patients: The Value of the Ex Vivo Nasal Epithelial Model to Address Non-Responders to CFTR-Modulating Drugs.
- Published in:
- International Journal of Molecular Sciences, 2022, v. 23, n. 6, p. 3175, doi. 10.3390/ijms23063175
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- Publication type:
- Article
SLC26A9 as a Potential Modifier and Therapeutic Target in Cystic Fibrosis Lung Disease.
- Published in:
- Biomolecules (2218-273X), 2022, v. 12, n. 2, p. 202, doi. 10.3390/biom12020202
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- Publication type:
- Article
An integrated approach to the evaluation of patients with asymptomatic or minimally symptomatic hyperCKemia.
- Published in:
- Muscle & Nerve, 2022, v. 65, n. 1, p. 96, doi. 10.1002/mus.27448
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- Publication type:
- Article
STXBP1 Syndrome Is Characterized by Inhibition-Dominated Dynamics of Resting-State EEG.
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- Frontiers in Physiology, 2021, v. 12, p. 1, doi. 10.3389/fphys.2021.775172
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- Publication type:
- Article
Biallelic PI4KA variants cause neurological, intestinal and immunological disease.
- Published in:
- 2021
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- Publication type:
- journal article
KCNT1-related epilepsies and epileptic encephalopathies: phenotypic and mutational spectrum.
- Published in:
- 2021
- By:
- Publication type:
- journal article
High Grade of Amplification of Six Regions on Chromosome 2p in a Neuroblastoma Patient with Very Poor Outcome: The Putative New Oncogene TSSC1.
- Published in:
- Cancers, 2021, v. 13, n. 22, p. 5792, doi. 10.3390/cancers13225792
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- Publication type:
- Article
Hyperkinetic stereotyped movements in a boy with biallelic CNTNAP2 variants.
- Published in:
- Italian Journal of Pediatrics, 2021, v. 47, n. 1, p. 1, doi. 10.1186/s13052-021-01162-w
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- Publication type:
- Article
Variants in ATP6V0A1 cause progressive myoclonus epilepsy and developmental and epileptic encephalopathy.
- Published in:
- Brain Communications, 2021, v. 3, n. 4, p. 1, doi. 10.1093/braincomms/fcab245
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- Publication type:
- Article
A case of Fibrodysplasia Ossificans Progressiva associated with a novel variant of the ACVR1 gene.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 10, p. 1, doi. 10.1002/mgg3.1774
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- Publication type:
- Article
Cortical and Subcortical Network Dysfunction in a Female Patient With NEXMIF Encephalopathy.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.722664
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- Publication type:
- Article
The first case of mosaic MNX1 mutation in an adult female with features of Currarino syndrome.
- Published in:
- Birth Defects Research, 2021, v. 113, n. 15, p. 1161, doi. 10.1002/bdr2.1936
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- Publication type:
- Article
Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome.
- Published in:
- 2021
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- Publication type:
- Case Study
Neuromuscular and Neuroendocrinological Features Associated With ZC4H2 -Related Arthrogryposis Multiplex Congenita in a Sicilian Family: A Case Report.
- Published in:
- Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.704747
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- Publication type:
- Article
Assessing the role of rare genetic variants in drug‐resistant, non‐lesional focal epilepsy.
- Published in:
- Annals of Clinical & Translational Neurology, 2021, v. 8, n. 7, p. 1376, doi. 10.1002/acn3.51374
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- Publication type:
- Article
Role of Common Genetic Variants for Drug-Resistance to Specific Anti-Seizure Medications.
- Published in:
- Frontiers in Pharmacology, 2021, v. 12, p. 1, doi. 10.3389/fphar.2021.688386
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- Publication type:
- Article
Molecular Genetics in Neuroblastoma Prognosis.
- Published in:
- Children, 2021, v. 8, n. 6, p. 1, doi. 10.3390/children8060456
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- Publication type:
- Article
RNF213 variant in a patient with Legius syndrome associated with moyamoya syndrome.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 6, p. 1, doi. 10.1002/mgg3.1669
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- Publication type:
- Article
Partial Rescue of F508del-CFTR Stability and Trafficking Defects by Double Corrector Treatment.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 10, p. 5262, doi. 10.3390/ijms22105262
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- Publication type:
- Article
Biallelic Variants in KIF17 Associated with Microphthalmia and Coloboma Spectrum.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 9, p. 4471, doi. 10.3390/ijms22094471
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- Publication type:
- Article
Dual diagnosis in a child with familial SCN8A-related encephalopathy complicated by a 1p13.2 deletion involving NRAS gene.
- Published in:
- 2021
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- Publication type:
- Letter