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Cerebral dural arteriovenous fistulas in patients with PTEN‐related hamartoma tumor syndrome.
- Published in:
- Clinical Genetics, 2024, v. 106, n. 1, p. 90, doi. 10.1111/cge.14515
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- Article
Snijders Blok–Campeau Syndrome: Description of 20 Additional Individuals with Variants in CHD3 and Literature Review.
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- Genes, 2023, v. 14, n. 9, p. 1664, doi. 10.3390/genes14091664
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- Article
A novel ELOVL4 variant, L168S, causes early childhood-onset Spinocerebellar ataxia-34 and retinal dysfunction: a case report.
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- Acta Neuropathologica Communications, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40478-023-01628-4
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- Publication type:
- Article
HIDEA syndrome is caused by biallelic, pathogenic, rare or founder P4HTM variants impacting the active site or the overall stability of the P4H‐TM protein.
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- Clinical Genetics, 2022, v. 102, n. 5, p. 444, doi. 10.1111/cge.14203
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- Publication type:
- Article
Molecular and clinical descriptions of patients with GABA<sub>A</sub> receptor gene variants (GABRA1, GABRB2, GABRB3, GABRG2): A cohort study, review of literature, and genotype–phenotype correlation.
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- Epilepsia (Series 4), 2022, v. 63, n. 10, p. 2519, doi. 10.1111/epi.17336
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- Article
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
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- Human Molecular Genetics, 2022, v. 31, n. 19, p. 3325, doi. 10.1093/hmg/ddac114
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- Article
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.
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- Nutrients, 2022, v. 14, n. 17, p. 3605, doi. 10.3390/nu14173605
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- Article
Phenotypic and genetic spectrum of ATP6V1A encephalopathy: a disorder of lysosomal homeostasis.
- Published in:
- 2022
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- Publication type:
- journal article
Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum.
- Published in:
- Clinical Genetics, 2022, v. 101, n. 3, p. 307, doi. 10.1111/cge.14096
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- Publication type:
- Article
Variant-specific effects define the phenotypic spectrum of HNRNPH2-associated neurodevelopmental disorders in males.
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- Human Genetics, 2022, v. 141, n. 2, p. 257, doi. 10.1007/s00439-021-02412-x
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- Article
Author Correction: Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.
- Published in:
- 2021
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- Publication type:
- Correction Notice
Deficiency of TET3 leads to a genome-wide DNA hypermethylation episignature in human whole blood.
- Published in:
- NPJ Genomic Medicine, 2021, v. 6, n. 1, p. 1, doi. 10.1038/s41525-021-00256-y
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- Publication type:
- Article
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 8, p. 2384, doi. 10.1002/ajmg.a.62254
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- Publication type:
- Article
Neurodevelopmental phenotypes in individuals with pathogenic variants in CHAMP1.
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- Cold Spring Harbor Molecular Case Studies, 2021, v. 7, n. 4, p. 1, doi. 10.1101/mcs.a006092
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- Publication type:
- Article
Rare deleterious de novo missense variants in Rnf2/Ring2 are associated with a neurodevelopmental disorder with unique clinical features.
- Published in:
- Human Molecular Genetics, 2021, v. 30, n. 14, p. 1283, doi. 10.1093/hmg/ddab110
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- Publication type:
- Article
Loss‐of‐function variants in ARHGEF9 are associated with an X‐linked intellectual disability dominant disorder.
- Published in:
- Human Mutation, 2021, v. 42, n. 5, p. 498, doi. 10.1002/humu.24188
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- Article
Demyelinating motor neuropathy associated with a homozygous GPT2 pathogenic variant.
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- Muscle & Nerve, 2021, v. 63, n. 5, p. E41, doi. 10.1002/mus.27183
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- Article
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).
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- Human Mutation, 2021, v. 42, n. 4, p. 473, doi. 10.1002/humu.24182
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- Publication type:
- Article
Developmental and epilepsy spectrum of KCNB1 encephalopathy with long‐term outcome.
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- Epilepsia (Series 4), 2020, v. 61, n. 11, p. 2461, doi. 10.1111/epi.16679
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- Publication type:
- Article
Two Novel Cases of Resistance to Thyroid Hormone Due to THRA Mutation.
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- Thyroid, 2020, v. 30, n. 8, p. 1217, doi. 10.1089/thy.2019.0602
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- Article
Mutations in the KIF21B kinesin gene cause neurodevelopmental disorders through imbalanced canonical motor activity.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. 1, doi. 10.1038/s41467-020-16294-6
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- Publication type:
- Article
Expanding the genotype–phenotype correlation of de novo heterozygous missense variants in YWHAG as a cause of developmental and epileptic encephalopathy.
- Published in:
- American Journal of Medical Genetics. Part A, 2020, v. 182, n. 4, p. 713, doi. 10.1002/ajmg.a.61483
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- Publication type:
- Article
Three novel patients with epileptic encephalopathy due to biallelic mutations in the PLCB1 gene.
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- Clinical Genetics, 2020, v. 97, n. 3, p. 477, doi. 10.1111/cge.13696
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- Publication type:
- Article
Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.
- Published in:
- Human Mutation, 2020, v. 41, n. 1, p. 69, doi. 10.1002/humu.23915
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- Publication type:
- Article
The epileptology of GNB5 encephalopathy.
- Published in:
- Epilepsia (Series 4), 2019, v. 60, n. 11, p. e121, doi. 10.1111/epi.16372
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- Publication type:
- Article
Author Correction: A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
- Published in:
- 2019
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- Publication type:
- Correction Notice
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures.
- Published in:
- 2019
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- Publication type:
- letter
Clinical study of 19 patients with SCN8A‐related epilepsy: Two modes of onset regarding EEG and seizures.
- Published in:
- Epilepsia (Series 4), 2019, v. 60, n. 5, p. 845, doi. 10.1111/epi.14727
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- Publication type:
- Article
Author Correction: Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
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- 2019
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- Publication type:
- Correction Notice
GRIN2A-related disorders: genotype and functional consequence predict phenotype.
- Published in:
- 2019
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- Publication type:
- journal article
De novo mutations in the GTP/GDP-binding region of RALA, a RAS-like small GTPase, cause intellectual disability and developmental delay.
- Published in:
- PLoS Genetics, 2018, v. 14, n. 11, p. 1, doi. 10.1371/journal.pgen.1007671
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- Article
Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy.
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- 2018
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- Publication type:
- journal article
Defining the phenotypic spectrum of <italic>SLC6A1</italic> mutations.
- Published in:
- Epilepsia (Series 4), 2018, v. 59, n. 2, p. 389, doi. 10.1111/epi.13986
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- Publication type:
- Article
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
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- NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2
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- Publication type:
- Article
A framework to identify contributing genes in patients with Phelan-McDermid syndrome.
- Published in:
- NPJ Genomic Medicine, 2017, v. 2, n. 1, p. N.PAG, doi. 10.1038/s41525-017-0035-2
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- Publication type:
- Article
Clinical and molecular cytogenetic characterization of four unrelated patients carrying 2p14 microdeletions.
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- American Journal of Medical Genetics. Part A, 2017, v. 173, n. 8, p. 2268, doi. 10.1002/ajmg.a.38307
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- Publication type:
- Article
Management of Severe Developmental Regression in an Autistic Child with a 1q21.3 Microdeletion and Self-Injurious Blindness.
- Published in:
- Case Reports in Psychiatry, 2017, p. 1, doi. 10.1155/2017/7582780
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- Publication type:
- Article
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
- Published in:
- 2017
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- Publication type:
- journal article
ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.
- Published in:
- 2016
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- Publication type:
- journal article
Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.
- Published in:
- Human Mutation, 2016, v. 37, n. 8, p. 755, doi. 10.1002/humu.23001
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- Publication type:
- Article
Validation of a clinical practice-based algorithm for the diagnosis of autosomal recessive cerebellar ataxias based on NGS identified cases.
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- Journal of Neurology, 2016, v. 263, n. 7, p. 1314, doi. 10.1007/s00415-016-8112-5
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- Publication type:
- Article
Phenotype variability of infantile-onset multisystem neurologic, endocrine, and pancreatic disease IMNEPD.
- Published in:
- 2016
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- Publication type:
- letter
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.
- Published in:
- Amino Acids, 2015, v. 47, n. 12, p. 2647, doi. 10.1007/s00726-015-2057-3
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- Publication type:
- Article
Relapsing encephalopathy with cerebellar ataxia related to an ATP1A3 mutation.
- Published in:
- 2015
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- Publication type:
- journal article
A Novel Homozygous TBC 1 D 24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.
- Published in:
- Movement Disorders, 2015, v. 30, n. 10, p. 1431, doi. 10.1002/mds.26303
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- Publication type:
- Article
A Novel Homozygous TBC1D24 Mutation Causing Multifocal Myoclonus With Cerebellar Involvement.
- Published in:
- 2015
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- Publication type:
- case study
Novel mutations in PIEZO1 cause an autosomal recessive generalized lymphatic dysplasia with non-immune hydrops fetalis.
- Published in:
- Nature Communications, 2015, v. 6, n. 9, p. 8085, doi. 10.1038/ncomms9085
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- Publication type:
- Article
PMPCA mutations cause abnormal mitochondrial protein processing in patients with non-progressive cerebellar ataxia.
- Published in:
- 2015
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- Publication type:
- journal article
29 French adult patients with PMM2-congenital disorder of glycosylation: outcome of the classical pediatric phenotype and depiction of a late-onset phenotype.
- Published in:
- Orphanet Journal of Rare Diseases, 2014, v. 9, n. 1, p. 391, doi. 10.1186/s13023-014-0207-4
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- Publication type:
- Article
Novel KCNQ2 and KCNQ3 Mutations in a Large Cohort of Families with Benign Neonatal Epilepsy: First Evidence for an Altered Channel Regulation by Syntaxin-1 A.
- Published in:
- Human Mutation, 2014, v. 35, n. 3, p. 356, doi. 10.1002/humu.22500
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- Publication type:
- Article