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ADGRL3 rs6551665 as a Common Vulnerability Factor Underlying Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder.Neuromolecular Med. 2019 Mar;21(1):60-67. doi: 10.1007/s12017-019-08525-x. Epub 2019 Jan 16.
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Gating defects of disease-causing de novo mutations in Ca(v)1.3 Ca(2+) channels.Channels (Austin). 2018;12(1):388-402. doi: 10.1080/19336950.2018.1546518.
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Raptor-Mediated Proteasomal Degradation of Deamidated 4E-BP2 Regulates Postnatal Neuronal Translation and NF-B Activity.Cell Rep. 2019 Dec 10;29(11):3620-3635.e7. doi: 10.1016/j.celrep.2019.11.023.
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High frequency of mosaic pathogenic variants in genes causing epilepsy-related neurodevelopmental disorders.Genet Med. 2018 Apr;20(4):403-410. doi: 10.1038/gim.2017.114. Epub 2017 Aug 24.
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Epigenetic Alterations in Prenatal Stress Mice as an Endophenotype Model for Schizophrenia: Role of Metabotropic Glutamate 2/3 Receptors.Front Mol Neurosci. 2018 Nov 30;11:423. doi: 10.3389/fnmol.2018.00423. eCollection 2018.
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Heterozygous loss of epilepsy gene KCNQ2 alters social, repetitive and exploratory behaviors.Genes Brain Behav. 2020 Jan;19(1):e12599. doi: 10.1111/gbb.12599. Epub 2019 Jul 31.
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De Novo Mutations Affecting the Catalytic C Subunit of PP2A, PPP2CA, Cause Syndromic Intellectual Disability Resembling Other PP2A-Related Neurodevelopmental Disorders.Am J Hum Genet. 2019 Jan 3;104(1):139-156. doi: 10.1016/j.ajhg.2018.12.002. Epub 2018 Dec 27.
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Novel calcineurin A (PPP3CA) variant associated with epilepsy, constitutive enzyme activation and downregulation of protein expression.Eur J Hum Genet. 2019 Jan;27(1):61-69. doi: 10.1038/s41431-018-0254-8. Epub 2018 Sep 25.
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A de novo variant in RAC3 causes severe global developmental delay and a middle interhemispheric variant of holoprosencephaly.J Hum Genet. 2019 Nov;64(11):1127-1132. doi: 10.1038/s10038-019-0656-7. Epub 2019 Aug 16.
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Neurodevelopmental disorder associated with de novo SCN3A pathogenic variants: two new cases and review of the literature.Brain Dev. 2020 Feb;42(2):211-216. doi: 10.1016/j.braindev.2019.09.004. Epub 2019 Oct 31.
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Analysis of ubiquitin recognition by the HECT ligase E6AP provides insight into its linkage specificity.J Biol Chem. 2019 Apr 12;294(15):6113-6129. doi: 10.1074/jbc.RA118.007014. Epub 2019 Feb 8.
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Deleterious Variation in BRSK2 Associates with a Neurodevelopmental Disorder. Am J Hum Genet. 2019 Apr 4;104(4):701-708. doi: 10.1016/j.ajhg.2019.02.002. Epub 2019 Mar 14.
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De novo variants in neurodevelopmental disorders with epilepsy.Nat Genet. 2018 Jul;50(7):1048-1053. doi: 10.1038/s41588-018-0143-7. Epub 2018 Jun 25.
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15q13.3 duplication in two patients with childhood-onset schizophrenia.Am J Med Genet B Neuropsychiatr Genet. 2016 Sep;171(6):777-83. doi: 10.1002/ajmg.b.32439. Epub 2016 Mar 10.
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Rare genetic variants in the endocannabinoid system genes CNR1 and DAGLA are associated with neurological phenotypes in humans.PLoS One. 2017 Nov 16;12(11):e0187926. doi: 10.1371/journal.pone.0187926. eCollection 2017.
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How Stuttering Develops: The Multifactorial Dynamic Pathways Theory.J Speech Lang Hear Res. 2017 Sep 18;60(9):2483-2505. doi: 10.1044/2017_JSLHR-S-16-0343.
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De Novo Variants in the F-Box Protein FBXO11 in 20 Individuals with a Variable Neurodevelopmental Disorder.Am J Hum Genet. 2018 Aug 2;103(2):305-316. doi: 10.1016/j.ajhg.2018.07.003. Epub 2018 Jul 26.
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No evidence for significant association between GABA receptor genes in chromosome 15q11-q13 and autism in a Japanese population.J Hum Genet. 2007;52(12):985-989. doi: 10.1007/s10038-007-0207-5. Epub 2007 Oct 24.
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Oxytocin Receptor Polymorphisms are Differentially Associated with Social Abilities across Neurodevelopmental Disorders.Sci Rep. 2017 Sep 14;7(1):11618. doi: 10.1038/s41598-017-10821-0.
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Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder. Am J Hum Genet. 2018 Oct 4;103(4):579-591. doi: 10.1016/j.ajhg.2018.09.005.
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Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.Cell. 2012 Apr 27;149(3):525-37. doi: 10.1016/j.cell.2012.03.028. Epub 2012 Apr 19.
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Microcephalic primordial dwarfism in an Emirati patient with PNKP mutation.Am J Med Genet A. 2016 Aug;170(8):2127-32. doi: 10.1002/ajmg.a.37766. Epub 2016 May 27.
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Loss of function of the retinoid-related nuclear receptor (RORB) gene and epilepsy.Eur J Hum Genet. 2016 Dec;24(12):1761-1770. doi: 10.1038/ejhg.2016.80. Epub 2016 Jun 29.
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Effect of Tetrabromobisphenol A on expression of biomarkers for inflammation and neurodevelopment by the placenta.Placenta. 2018 Aug;68:33-39. doi: 10.1016/j.placenta.2018.06.306. Epub 2018 Jun 20.
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Mild Intrauterine Hypoperfusion Leads to Lumbar and Cortical Hyperexcitability, Spasticity, and Muscle Dysfunctions in Rats: Implications for Prematurity.Front Neurol. 2018 Jun 15;9:423. doi: 10.3389/fneur.2018.00423. eCollection 2018.
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Targeting brain serotonin synthesis: insights into neurodevelopmental disorders with long-term outcomes related to negative emotionality, aggression and antisocial behaviour.Philos Trans R Soc Lond B Biol Sci. 2012 Sep 5;367(1601):2426-43. doi: 10.1098/rstb.2012.0039.
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BCL11A Haploinsufficiency Causes an Intellectual Disability Syndrome and Dysregulates Transcription. Am J Hum Genet. 2016 Aug 4;99(2):253-74. doi: 10.1016/j.ajhg.2016.05.030. Epub 2016 Jul 21.
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Cognitive impairment in children with CACNA1A mutations.Dev Med Child Neurol. 2020 Mar;62(3):330-337. doi: 10.1111/dmcn.14261. Epub 2019 May 21.
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An autism-causing calcium channel variant functions with selective autophagy to alter axon targeting and behavior.PLoS Genet. 2019 Dec 5;15(12):e1008488. doi: 10.1371/journal.pgen.1008488. eCollection 2019 Dec.
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Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder. Am J Hum Genet. 2019 Feb 7;104(2):287-298. doi: 10.1016/j.ajhg.2018.12.017. Epub 2019 Jan 17.
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An opposing function of paralogs in balancing developmental synapse maturation.PLoS Biol. 2018 Dec 26;16(12):e2006838. doi: 10.1371/journal.pbio.2006838. eCollection 2018 Dec.
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DYRK1A-haploinsufficiency in mice causes autistic-like features and febrile seizures.Neurobiol Dis. 2018 Feb;110:180-191. doi: 10.1016/j.nbd.2017.12.003. Epub 2017 Dec 6.
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Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases. Nat Genet. 2017 Apr;49(4):515-526. doi: 10.1038/ng.3792. Epub 2017 Feb 13.
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Neuronal overexpression of Ube3a isoform 2 causes behavioral impairments and neuroanatomical pathology relevant to 15q11.2-q13.3 duplication syndrome.Hum Mol Genet. 2017 Oct 15;26(20):3995-4010. doi: 10.1093/hmg/ddx289.
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AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders. Nat Commun. 2019 Jul 12;10(1):3094. doi: 10.1038/s41467-019-10910-w.
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De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities. Am J Hum Genet. 2017 Dec 7;101(6):1013-1020. doi: 10.1016/j.ajhg.2017.11.004.
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Kainate Receptors Inhibit Glutamate Release Via Mobilization of Endocannabinoids in Striatal Direct Pathway Spiny Projection Neurons.J Neurosci. 2018 Apr 18;38(16):3901-3910. doi: 10.1523/JNEUROSCI.1788-17.2018. Epub 2018 Mar 14.
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GRIN2A-related disorders: genotype and functional consequence predict phenotype.Brain. 2019 Jan 1;142(1):80-92. doi: 10.1093/brain/awy304.
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mGlu5-mediated signalling in developing astrocyte and the pathogenesis of autism spectrum disorders.Curr Opin Neurobiol. 2018 Feb;48:139-145. doi: 10.1016/j.conb.2017.12.014. Epub 2018 Jan 6.
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Metabotropic Glutamate Receptor 7: A New Therapeutic Target in Neurodevelopmental Disorders.Front Mol Neurosci. 2018 Oct 23;11:387. doi: 10.3389/fnmol.2018.00387. eCollection 2018.
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Stimulation of the brain serotonin receptor 7 rescues mitochondrial dysfunction in female mice from two models of Rett syndrome.Neuropharmacology. 2017 Jul 15;121:79-88. doi: 10.1016/j.neuropharm.2017.04.024. Epub 2017 Apr 15.
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Identification of novel genetic causes of Rett syndrome-like phenotypes. J Med Genet. 2016 Mar;53(3):190-9. doi: 10.1136/jmedgenet-2015-103568. Epub 2016 Jan 6.
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Application of whole-exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability.Am J Med Genet A. 2017 Jan;173(1):62-71. doi: 10.1002/ajmg.a.37969. Epub 2016 Sep 12.
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De novo loss- or gain-of-function mutations in KCNA2 cause epileptic encephalopathy. Nat Genet. 2015 Apr;47(4):393-399. doi: 10.1038/ng.3239. Epub 2015 Mar 9.
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Expanding the genetic and phenotypic relevance of KCNB1 variants in developmental and epileptic encephalopathies: 27 new patients and overview of the literature.Hum Mutat. 2020 Jan;41(1):69-80. doi: 10.1002/humu.23915. Epub 2019 Oct 4.
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A novel mosaic 1q32.1 microduplication identified through Chromosome Microarray Analysis: narrowing the smallest critical region including KDM5B gene found associated with neurodevelopmetal disorders.Eur J Med Genet. 2019 Sep;62(9):103558. doi: 10.1016/j.ejmg.2018.10.010. Epub 2018 Oct 25.
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Histone demethylase KDM5C is a SAHA-sensitive central hub at the crossroads of transcriptional axes involved in multiple neurodevelopmental disorders.Hum Mol Genet. 2019 Dec 15;28(24):4089-4102. doi: 10.1093/hmg/ddz254.
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L1 syndrome diagnosis complemented with functional analysis of L1CAM variants located to the two N-terminal Ig-like domains.Clin Genet. 2017 Jan;91(1):115-120. doi: 10.1111/cge.12763. Epub 2016 Mar 15.
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PTEN-opathies: from biological insights to evidence-based precision medicine.J Clin Invest. 2019 Feb 1;129(2):452-464. doi: 10.1172/JCI121277. Epub 2019 Jan 7.
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Genetic and phenotypic characteristics of SCN1A-related epilepsy in Chinese children.Neuroreport. 2019 Jun 12;30(9):671-680. doi: 10.1097/WNR.0000000000001259.
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Understanding the schizophrenia phenotype in the first patient with the full SCN2A phenotypic spectrum.Psychiatr Genet. 2019 Jun;29(3):91-94. doi: 10.1097/YPG.0000000000000219.
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Widening of the genetic and clinical spectrum of Lamb-Shaffer syndrome, a neurodevelopmental disorder due to SOX5 haploinsufficiency.Genet Med. 2020 Mar;22(3):524-537. doi: 10.1038/s41436-019-0657-0. Epub 2019 Oct 3.
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De Novo Variants in TAOK1 Cause Neurodevelopmental Disorders. Am J Hum Genet. 2019 Jul 3;105(1):213-220. doi: 10.1016/j.ajhg.2019.05.005. Epub 2019 Jun 20.
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Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.Genet Med. 2019 Aug;21(8):1797-1807. doi: 10.1038/s41436-019-0433-1. Epub 2019 Jan 25.
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A novel SLC1A4 homozygous mutation causing congenital microcephaly, epileptic encephalopathy and spastic tetraparesis: a video-EEG and tractography - case study.J Neurogenet. 2018 Dec;32(4):316-321. doi: 10.1080/01677063.2018.1476510. Epub 2018 Jul 10.
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Generation of four induced pluripotent stem cell lines, GZWWTi001-A, GZWTZi001-A, GZWXYi001-A, and GZWXDi001-A, derived from peripheral blood mononuclear cells from a family with asparagine synthetase deficiency.Stem Cell Res. 2019 Dec;41:101583. doi: 10.1016/j.scr.2019.101583. Epub 2019 Oct 25.
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Increased aggression and lack of maternal behavior in Dio3-deficient mice are associated with abnormalities in oxytocin and vasopressin systems.Genes Brain Behav. 2018 Jan;17(1):23-35. doi: 10.1111/gbb.12400. Epub 2017 Aug 4.
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The role of translation elongation factor eEF1 subunits in neurodevelopmental disorders.Hum Mutat. 2019 Feb;40(2):131-141. doi: 10.1002/humu.23677. Epub 2018 Nov 23.
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Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase.J Child Neurol. 2019 Oct;34(12):778-781. doi: 10.1177/0883073819854604. Epub 2019 Jul 8.
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Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder.Hum Genet. 2019 Dec;138(11-12):1259-1266. doi: 10.1007/s00439-019-02065-x. Epub 2019 Sep 25.
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Pharmacological and proteomic analyses of neonatal polyI:C-treated adult mice.Neurosci Res. 2019 Oct;147:39-47. doi: 10.1016/j.neures.2018.10.007. Epub 2018 Oct 26.
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Ambra1 Shapes Hippocampal Inhibition/Excitation Balance: Role in Neurodevelopmental Disorders.Mol Neurobiol. 2018 Oct;55(10):7921-7940. doi: 10.1007/s12035-018-0911-5. Epub 2018 Feb 27.
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A novel splice site mutation in AP1S2 gene for X-linked mental retardation in a Chinese pedigree and literature review.Brain Behav. 2019 Mar;9(3):e01221. doi: 10.1002/brb3.1221. Epub 2019 Feb 4.
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Sublaminar organization of the human subplate: developmental changes in the distribution of neurons, glia, growing axons and extracellular matrix.J Anat. 2019 Sep;235(3):481-506. doi: 10.1111/joa.12920. Epub 2018 Dec 13.
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GPCR-independent activation of G proteins promotes apical cell constriction in vivo.J Cell Biol. 2019 May 6;218(5):1743-1763. doi: 10.1083/jcb.201811174. Epub 2019 Apr 4.
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The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis.Genet Med. 2020 Feb;22(2):389-397. doi: 10.1038/s41436-019-0612-0. Epub 2019 Aug 7.
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De novo variants in CNOT3 cause a variable neurodevelopmental disorder.Eur J Hum Genet. 2019 Nov;27(11):1677-1682. doi: 10.1038/s41431-019-0413-6. Epub 2019 Jun 14.
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Modeling the neuropsychiatric manifestations of Lowe syndrome using induced pluripotent stem cells: defective F-actin polymerization and WAVE-1 expression in neuronal cells.Mol Autism. 2018 Aug 15;9:44. doi: 10.1186/s13229-018-0227-3. eCollection 2018.
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Deficiency of aminopeptidase P1 causes behavioral hyperactivity, cognitive deficits, and hippocampal neurodegeneration.Genes Brain Behav. 2018 Feb;17(2):126-138. doi: 10.1111/gbb.12419. Epub 2017 Sep 15.
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Cux2 expression regulated by Lhx2 in the upper layer neurons of the developing cortex.Biochem Biophys Res Commun. 2020 Jan 22;521(4):874-879. doi: 10.1016/j.bbrc.2019.11.004. Epub 2019 Nov 8.
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Three human aminoacyl-tRNA synthetases have distinct sub-mitochondrial localizations that are unaffected by disease-associated mutations.J Biol Chem. 2018 Aug 31;293(35):13604-13615. doi: 10.1074/jbc.RA118.003400. Epub 2018 Jul 13.
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Cognitive impairment and autistic-like behaviour in SAPAP4-deficient mice.Transl Psychiatry. 2019 Jan 16;9(1):7. doi: 10.1038/s41398-018-0327-z.
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Rare copy number variations affecting the synaptic gene DMXL2 in neurodevelopmental disorders.J Neurodev Disord. 2019 Feb 7;11(1):3. doi: 10.1186/s11689-019-9263-3.
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DOCK3-related neurodevelopmental syndrome: Biallelic intragenic deletion of DOCK3 in a boy with developmental delay and hypotonia.Am J Med Genet A. 2018 Jan;176(1):241-245. doi: 10.1002/ajmg.a.38517. Epub 2017 Nov 12.
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DPH1 syndrome: two novel variants and structural and functional analyses of seven missense variants identified in syndromic patients.Eur J Hum Genet. 2020 Jan;28(1):64-75. doi: 10.1038/s41431-019-0374-9. Epub 2019 Mar 15.
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USP9X controls translation efficiency via deubiquitination of eukaryotic translation initiation factor 4A1.Nucleic Acids Res. 2018 Jan 25;46(2):823-839. doi: 10.1093/nar/gkx1226.
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Novel EXOSC3 pathogenic variant results in a mild course of neurologic disease with cerebellum involvement.Eur J Med Genet. 2020 Feb;63(2):103649. doi: 10.1016/j.ejmg.2019.04.006. Epub 2019 Apr 12.
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Possible involvement of a cell adhesion molecule, Migfilin, in brain development and pathogenesis of autism spectrum disorders.J Neurosci Res. 2018 May;96(5):789-802. doi: 10.1002/jnr.24194. Epub 2017 Nov 8.
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Variantrecurrence in neurodevelopmental disorders: the use of publicly available genomic data identifies clinically relevant pathogenic missense variants.Genet Med. 2019 Nov;21(11):2504-2511. doi: 10.1038/s41436-019-0518-x. Epub 2019 Apr 30.
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Burden of de novo mutations and inherited rare single nucleotide variants in children with sensory processing dysfunction.BMC Med Genomics. 2018 May 25;11(1):50. doi: 10.1186/s12920-018-0362-x.
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The epileptology of GNB5 encephalopathy.Epilepsia. 2019 Nov;60(11):e121-e127. doi: 10.1111/epi.16372. Epub 2019 Oct 20.
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Disturbed neurotransmitter homeostasis in ether lipid deficiency.Hum Mol Genet. 2019 Jun 15;28(12):2046-2061. doi: 10.1093/hmg/ddz040.
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Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disability.Eur J Hum Genet. 2018 Apr;26(4):592-598. doi: 10.1038/s41431-018-0097-3. Epub 2018 Feb 15.
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Deficiency of calcium/calmodulin-dependent serine protein kinase disrupts the excitatory-inhibitory balance of synapses by down-regulating GluN2B.Mol Psychiatry. 2019 Jul;24(7):1079-1092. doi: 10.1038/s41380-018-0338-4. Epub 2019 Jan 4.
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Brain-specific deletion of histone variant H2A.z results in cortical neurogenesis defects and neurodevelopmental disorder.Nucleic Acids Res. 2018 Mar 16;46(5):2290-2307. doi: 10.1093/nar/gkx1295.
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Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta-analysis.Am J Med Genet B Neuropsychiatr Genet. 2018 Jan;177(1):93-100. doi: 10.1002/ajmg.b.32608. Epub 2017 Nov 20.
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Biallelic INTS1 Mutations Cause a Rare Neurodevelopmental Disorder in Two Chinese Siblings.J Mol Neurosci. 2020 Jan;70(1):1-8. doi: 10.1007/s12031-019-01393-x. Epub 2019 Aug 19.
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Clinical significance of copy number variants involving KANK1 in patients with neurodevelopmental disorders.Eur J Med Genet. 2019 Jan;62(1):15-20. doi: 10.1016/j.ejmg.2018.04.012. Epub 2018 May 3.
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CRISPR/Cas9-mediated Knockout of the Neuropsychiatric Risk Gene KCTD13 Causes Developmental Deficits in Human Cortical Neurons Derived from Induced Pluripotent Stem Cells.Mol Neurobiol. 2020 Feb;57(2):616-634. doi: 10.1007/s12035-019-01727-1. Epub 2019 Aug 11.
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Efa6 protects axons and regulates their growth and branching by inhibiting microtubule polymerisation at the cortex.Elife. 2019 Nov 13;8:e50319. doi: 10.7554/eLife.50319.
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Nail-patella syndrome with an emphasis on the risk of renal and ocular findings.Pediatr Dermatol. 2010 Jan-Feb;27(1):95-7. doi: 10.1111/j.1525-1470.2009.01051.x.
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Biochemical and Morphological Characterization of a Neurodevelopmental Disorder-Related Mono-ADP-Ribosylhydrolase, MACRO Domain Containing 2.Dev Neurosci. 2018;40(3):278-287. doi: 10.1159/000492271. Epub 2018 Sep 18.
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Emerging roles for MEF2 in brain development and mental disorders.Curr Opin Neurobiol. 2019 Dec;59:49-58. doi: 10.1016/j.conb.2019.04.008. Epub 2019 May 23.
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Developmental diversification of cortical inhibitory interneurons.Nature. 2018 Mar 22;555(7697):457-462. doi: 10.1038/nature25999. Epub 2018 Mar 5.
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de novo MEPCE nonsense variant associated with a neurodevelopmental disorder causes disintegration of 7SK snRNP and enhanced RNA polymerase II activation.Sci Rep. 2019 Aug 29;9(1):12516. doi: 10.1038/s41598-019-49032-0.
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Exome sequencing reveals NAA15 and PUF60 as candidate genes associated with intellectual disability.Am J Med Genet B Neuropsychiatr Genet. 2018 Jan;177(1):10-20. doi: 10.1002/ajmg.b.32574. Epub 2017 Oct 9.
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Novel NAXE variants as a cause for neurometabolic disorder: implications for treatment.J Neurol. 2020 Mar;267(3):770-782. doi: 10.1007/s00415-019-09640-2. Epub 2019 Nov 20.
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Neurofascin (NFASC) gene mutation causes autosomal recessive ataxia with demyelinating neuropathy.Parkinsonism Relat Disord. 2019 Jun;63:66-72. doi: 10.1016/j.parkreldis.2019.02.045. Epub 2019 Mar 1.
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Chromatin Decondensation by FOXP2 Promotes Human Neuron Maturation and Expression of Neurodevelopmental Disease Genes.Cell Rep. 2019 May 7;27(6):1699-1711.e9. doi: 10.1016/j.celrep.2019.04.044.
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Novel mutations in NLGN3 causing autism spectrum disorder and cognitive impairment.Hum Mutat. 2019 Nov;40(11):2021-2032. doi: 10.1002/humu.23836. Epub 2019 Jul 29.
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Molecular analysis of NPAS3 functional domains and variants.BMC Mol Biol. 2018 Dec 3;19(1):14. doi: 10.1186/s12867-018-0117-4.
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Characterization of a Mouse Model of Brjeson-Forssman-Lehmann Syndrome.Cell Rep. 2018 Nov 6;25(6):1404-1414.e6. doi: 10.1016/j.celrep.2018.10.043.
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Expression Analyses of POGZ, A Responsible Gene for Neurodevelopmental Disorders, during Mouse Brain Development.Dev Neurosci. 2019;41(1-2):139-148. doi: 10.1159/000502128. Epub 2019 Aug 20.
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De novo apparent loss-of-function mutations in PRR12 in three patients with intellectual disability and iris abnormalities.Hum Genet. 2018 Mar;137(3):257-264. doi: 10.1007/s00439-018-1877-0. Epub 2018 Mar 19.
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A homozygous canonical splice acceptor site mutation in PRUNE1 is responsible for a rare childhood neurodegenerative disease in Manitoba Cree families.Am J Med Genet A. 2019 Feb;179(2):206-218. doi: 10.1002/ajmg.a.60690. Epub 2018 Dec 17.
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Postsynaptic density proteins and their involvement in neurodevelopmental disorders.J Biochem. 2018 Jun 1;163(6):447-455. doi: 10.1093/jb/mvy022.
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Neurodevelopmental phenotype caused by a de novo PTPN4 single nucleotide variant disrupting protein localization in neuronal dendritic spines.Clin Genet. 2018 Dec;94(6):581-585. doi: 10.1111/cge.13450. Epub 2018 Oct 11.
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De novo SCAMP5 mutation causes a neurodevelopmental disorder with autistic features and seizures.J Med Genet. 2020 Feb;57(2):138-144. doi: 10.1136/jmedgenet-2018-105927. Epub 2019 Aug 22.
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The role of ISWI chromatin remodeling complexes in brain development and neurodevelopmental disorders.Mol Cell Neurosci. 2018 Mar;87:55-64. doi: 10.1016/j.mcn.2017.10.008. Epub 2017 Dec 15.
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Putative contributions of the sex chromosome proteins SOX3 and SRY to neurodevelopmental disorders.Am J Med Genet B Neuropsychiatr Genet. 2019 Sep;180(6):390-414. doi: 10.1002/ajmg.b.32704. Epub 2018 Dec 9.
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Exploring the association between SRPX2 variants and neurodevelopment: How causal is it?.Gene. 2019 Feb 15;685:50-54. doi: 10.1016/j.gene.2018.10.067. Epub 2018 Oct 25.
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A novel nonsense and inactivating variant of ST3GAL3 in two infant siblings suffering severe epilepsy and expressing circulating CA19.9.Glycobiology. 2020 Jan 28;30(2):95-104. doi: 10.1093/glycob/cwz079.
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TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish.Sci Rep. 2019 Jul 24;9(1):10730. doi: 10.1038/s41598-019-46632-8.
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Purification and mutagenesis studies of TANC1 ankyrin repeats domain provide clues to understand mis-sense variants from diseases.Biochem Biophys Res Commun. 2019 Jun 25;514(2):358-364. doi: 10.1016/j.bbrc.2019.04.151. Epub 2019 Apr 27.
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Altered TAOK2 activity causes autism-related neurodevelopmental and cognitive abnormalities through RhoA signaling.Mol Psychiatry. 2019 Sep;24(9):1329-1350. doi: 10.1038/s41380-018-0025-5. Epub 2018 Feb 21.
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A case of early-onset epileptic encephalopathy with a homozygous TBC1D24 variant caused by uniparental isodisomy.Am J Med Genet A. 2019 Apr;179(4):645-649. doi: 10.1002/ajmg.a.61056. Epub 2019 Jan 24.
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