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SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-022-31566-z
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- Publication type:
- Article
Clinically Relevant Genes Identified in Cerebral Palsy Cohorts Following Evaluation of the Clinical Description and Phenotype: A Systematic Review.
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- Journal of Child Neurology, 2024, v. 39, n. 13/14, p. 500, doi. 10.1177/08830738241277231
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- Publication type:
- Article
'Blinders, phenotype, and fashionable genetic analysis': Setting the record straight for epilepsy!
- Published in:
- Epilepsia (Series 4), 2011, v. 52, n. 9, p. 1757, doi. 10.1111/j.1528-1167.2011.03054.x
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- Publication type:
- Article
Genetics of the epilepsies: Genetic twists in the channels and other tales.
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- Epilepsia (Series 4), 2010, v. 51, p. 33, doi. 10.1111/j.1528-1167.2009.02440.x
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- Publication type:
- Article
Protocadherin 19 Clustering Epilepsy and Neurosteroids: Opportunities for Intervention.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 18, p. 9769, doi. 10.3390/ijms22189769
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- Publication type:
- Article
CCDC22 deficiency in humans blunts activation of proinflammatory NF-κB signaling.
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- Journal of Clinical Investigation, 2013, v. 123, n. 5, p. 2244, doi. 10.1172/JCI66466
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- Publication type:
- Article
Heterozygous loss-of-function variants in DOCK4 cause neurodevelopmental delay and microcephaly.
- Published in:
- Human Genetics, 2024, v. 143, n. 3, p. 455, doi. 10.1007/s00439-024-02655-4
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- Publication type:
- Article
A standardized patient-centered characterization of the phenotypic spectrum of PCDH19 girls clustering epilepsy.
- Published in:
- Translational Psychiatry, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41398-020-0803-0
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- Article
Cyclin-dependent kinase-like 5 (CDKL5) mutation screening in Rett syndrome and related disorders.
- Published in:
- 2010
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- Publication type:
- journal article
FRAXE-associated mental retardation protein (FMR2) is an RNA-binding protein with high affinity for G-quartet RNA forming structure.
- Published in:
- Nucleic Acids Research, 2009, v. 37, n. 4, p. 1269, doi. 10.1093/nar/gkn1058
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- Publication type:
- Article
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
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- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00870-6
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- Publication type:
- Article
Rare deleterious mutations of HNRNP genes result in shared neurodevelopmental disorders.
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- Genome Medicine, 2021, v. 13, n. 1, p. 1, doi. 10.1186/s13073-021-00870-6
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- Publication type:
- Article
People with Cerebral Palsy and Their Family's Preferences about Genomics Research.
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- Public Health Genomics, 2022, v. 25, n. 1/2, p. 22, doi. 10.1159/000518942
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- Publication type:
- Article
Human disease genes website series: An international, open and dynamic library for up-to-date clinical information.
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- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 4, p. 1039, doi. 10.1002/ajmg.a.62057
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- Publication type:
- Article
A mutation in COL4A2 causes autosomal dominant porencephaly with cataracts.
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- American Journal of Medical Genetics. Part A, 2016, v. 170A, n. 4, p. 1059, doi. 10.1002/ajmg.a.37527
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- Publication type:
- Article
FOXP1 mutations cause intellectual disability and a recognizable phenotype.
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- American Journal of Medical Genetics. Part A, 2013, v. 161A, n. 12, p. 3166, doi. 10.1002/ajmg.a.36174
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- Publication type:
- Article
Choreoathetosis, congenital hypothyroidism and neonatal respiratory distress syndrome with intact NKX2-1.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 12, p. 3168, doi. 10.1002/ajmg.a.35456
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- Publication type:
- Article
A novel contiguous gene deletion of AVPR2 and ARHGAP4 genes in male dizygotic twins with nephrogenic diabetes insipidus and intellectual disability.
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- American Journal of Medical Genetics. Part A, 2012, v. 158A, n. 10, p. 2511, doi. 10.1002/ajmg.a.35591
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- Publication type:
- Article
Refining analyses of copy number variation identifies specific genes associated with developmental delay.
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- Nature Genetics, 2014, v. 46, n. 10, p. 1063, doi. 10.1038/ng.3092
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- Publication type:
- Article
Glutamate receptors and learning and memory.
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- Nature Genetics, 2010, v. 42, n. 11, p. 925, doi. 10.1038/ng1110-925
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- Publication type:
- Article
PHF6 mutations in T-cell acute lymphoblastic leukemia.
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- Nature Genetics, 2010, v. 42, n. 4, p. 338, doi. 10.1038/ng.542
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- Publication type:
- Article
Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy.
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- Nature Genetics, 2002, v. 30, n. 4, p. 441
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- Publication type:
- Article
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda.
- Published in:
- Nature Genetics, 1999, v. 22, n. 4, p. 400, doi. 10.1038/11976
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- Publication type:
- Article
A missense mutation in RPS6KA3 (RSK2) responsible for non-specific mental retardation.
- Published in:
- Nature Genetics, 1999, v. 22, n. 1, p. 13, doi. 10.1038/8719
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- Publication type:
- Article
A UPF3-mediated regulatory switch that maintains RNA surveillance.
- Published in:
- Nature Structural & Molecular Biology, 2009, v. 16, n. 7, p. 747, doi. 10.1038/nsmb.1612
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- Publication type:
- Article
Multiomic analysis implicates nuclear hormone receptor signalling in clustering epilepsy.
- Published in:
- Translational Psychiatry, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41398-024-02783-5
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- Publication type:
- Article
Pcdh19 Loss-of-Function Increases Neuronal Migration In Vitro but is Dispensable for Brain Development in Mice.
- Published in:
- Scientific Reports, 2016, p. 26765, doi. 10.1038/srep26765
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- Publication type:
- Article
Loss of <i>Usp9x</i> Disrupts Cortical Architecture, Hippocampal Development and TGFβ-Mediated Axonogenesis.
- Published in:
- PLoS ONE, 2013, v. 8, n. 7, p. 1, doi. 10.1371/journal.pone.0068287
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- Article
Cerebral palsy and genomics: an international consortium.
- Published in:
- 2018
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- Publication type:
- Letter
The genetic basis of cerebral palsy.
- Published in:
- Developmental Medicine & Child Neurology, 2017, v. 59, n. 5, p. 462, doi. 10.1111/dmcn.13363
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- Article
The genetic basis of cerebral palsy.
- Published in:
- 2017
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- Publication type:
- journal article
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.
- Published in:
- Human Genetics, 2016, v. 135, n. 10, p. 1117, doi. 10.1007/s00439-016-1700-8
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- Publication type:
- Article
Copy number variants in patients with intellectual disability affect the regulation of ARX transcription factor gene.
- Published in:
- Human Genetics, 2015, v. 134, n. 11/12, p. 1163, doi. 10.1007/s00439-015-1594-x
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- Publication type:
- Article
Refined mapping of X-linked reticulate pigmentary disorder and sequencing of candidate genes.
- Published in:
- Human Genetics, 2008, v. 123, n. 5, p. 469, doi. 10.1007/s00439-008-0498-4
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- Publication type:
- Article
Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region.
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- Human Genetics, 2007, v. 121, n. 5, p. 539, doi. 10.1007/s00439-007-0343-1
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- Publication type:
- Article
Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation.
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- Human Genetics, 2006, v. 118, n. 5, p. 578, doi. 10.1007/s00439-005-0072-2
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- Publication type:
- Article
Oligonucleotide correction of an intronic TIMMDC1 variant in cells of patients with severe neurodegenerative disorder.
- Published in:
- NPJ Genomic Medicine, 2022, v. 7, n. 1, p. 1, doi. 10.1038/s41525-021-00277-7
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- Publication type:
- Article
Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.
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- 2019
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- Publication type:
- Correction Notice
Author Correction: Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.
- Published in:
- 2019
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- Publication type:
- Correction Notice
Pathogenic copy number variants that affect gene expression contribute to genomic burden in cerebral palsy.
- Published in:
- NPJ Genomic Medicine, 2018, v. 3, n. 1, p. N.PAG, doi. 10.1038/s41525-018-0073-4
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- Publication type:
- Article
Rare copy number variation in cerebral palsy.
- Published in:
- European Journal of Human Genetics, 2014, v. 22, n. 1, p. 40, doi. 10.1038/ejhg.2013.93
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- Publication type:
- Article
Is there a Mendelian transmission ratio distortion of the c.429_452dup(24bp) polyalanine tract ARX mutation?
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- European Journal of Human Genetics, 2012, v. 20, n. 12, p. 1311, doi. 10.1038/ejhg.2012.61
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- Publication type:
- Article
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype-phenotype correlation.
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- European Journal of Human Genetics, 2012, v. 20, n. 9, p. 1010, doi. 10.1038/ejhg.2012.114
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- Publication type:
- Article
Expanding the molecular basis and phenotypic spectrum of X-linked Joubert syndrome associated with OFD1 mutations.
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- European Journal of Human Genetics, 2012, v. 20, n. 7, p. 806, doi. 10.1038/ejhg.2012.9
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- Publication type:
- Article
Hybridisation-based resequencing of 17 X-linked intellectual disability genes in 135 patients reveals novel mutations in ATRX, SLC6A8 and PQBP1.
- Published in:
- European Journal of Human Genetics, 2011, v. 19, n. 6, p. 717, doi. 10.1038/ejhg.2010.244
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- Publication type:
- Article
CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.
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- European Journal of Human Genetics, 2010, v. 18, n. 5, p. 544, doi. 10.1038/ejhg.2009.220
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- Publication type:
- Article
Corrigendum to: CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes.
- Published in:
- 2010
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- Publication type:
- Correction Notice
Identification and characterization of two novel JARID1C mutations: suggestion of an emerging genotype–phenotype correlation.
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 3, p. 330, doi. 10.1038/ejhg.2009.175
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- Publication type:
- Article
Ohtahara syndrome in a family with an ARX protein truncation mutation (c.81C>G/p.Y27X).
- Published in:
- European Journal of Human Genetics, 2010, v. 18, n. 2, p. 157, doi. 10.1038/ejhg.2009.139
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- Publication type:
- Article
MCT8 mutation analysis and identification of the first female with Allan–Herndon–Dudley syndrome due to loss of MCT8 expression.
- Published in:
- European Journal of Human Genetics, 2008, v. 16, n. 9, p. 1029, doi. 10.1038/ejhg.2008.66
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- Publication type:
- Article