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Affected Kindred Analysis of Human X Chromosome Exomes to Identify Novel X-Linked Intellectual Disability Genes

https://doi.org/10.1371/journal.pone.0116454

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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

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Next generation sequencing in nonsyndromic intellectual disability: From a negative molecular karyotype to a possible causative mutation detection

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Molecular Cloning and Mapping of Human Semaphorin F from the Cri-du-chat Candidate Interval

inferredcites →https://doi.org/10.1016/j.ajhg.2011.02.001openalex-snapshot

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

inferredcites →https://doi.org/10.1016/j.ajhg.2011.04.005openalex-snapshot

Whole-Exome Sequencing Identifies FAM20A Mutations as a Cause of Amelogenesis Imperfecta and Gingival Hyperplasia Syndrome

inferredcites →https://doi.org/10.1016/j.ajhg.2012.02.018openalex-snapshot

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

inferredcites →https://doi.org/10.1016/j.ajhg.2012.05.003openalex-snapshot

Disruption of an EHMT1-Associated Chromatin-Modification Module Causes Intellectual Disability

inferredcites →https://doi.org/10.1016/j.ajhg.2012.05.004openalex-snapshot

Mutations in PIGO, a Member of the GPI-Anchor-Synthesis Pathway, Cause Hyperphosphatasia with Mental Retardation

inferredcites →https://doi.org/10.1016/j.ajhg.2012.06.016openalex-snapshot

Exome Sequencing Followed by Large-Scale Genotyping Fails to Identify Single Rare Variants of Large Effect in Idiopathic Generalized Epilepsy

inferredcites →https://doi.org/10.1016/j.ajhg.2012.08.011openalex-snapshot

A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

inferredcites →https://doi.org/10.1016/j.ajhg.2013.03.021openalex-snapshot

ZC4H2 Mutations Are Associated with Arthrogryposis Multiplex Congenita and Intellectual Disability through Impairment of Central and Peripheral Synaptic Plasticity

inferredcites →https://doi.org/10.1016/j.ajhg.2013.06.013openalex-snapshot

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

inferredcites →https://doi.org/10.1016/j.ajhg.2013.07.019openalex-snapshot

XLID-Causing Mutations and Associated Genes Challenged in Light of Data From Large-Scale Human Exome Sequencing

inferredcites →https://doi.org/10.1016/j.ajhg.2013.10.002openalex-snapshot

Pulling out the 1%: Whole-Genome Capture for the Targeted Enrichment of Ancient DNA Sequencing Libraries

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Mapping Rare and Common Causal Alleles for Complex Human Diseases

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Phenotypic spectrum associated with duplication of Xp11.22-p11.23 includes Autism Spectrum Disorder

inferredcites →https://doi.org/10.1016/j.molcel.2012.12.019openalex-snapshot

Tet Proteins Connect the O-Linked N-acetylglucosamine Transferase Ogt to Chromatin in Embryonic Stem Cells

inferredcites →https://doi.org/10.1016/j.tig.2009.05.002openalex-snapshot

The genetic landscape of intellectual disability arising from chromosome X

inferredcites →https://doi.org/10.1016/s0896-6273(00)81198-8openalex-snapshot

GRASP-1

inferredcites →https://doi.org/10.1038/363722a0openalex-snapshot

Characterization and localization of the FMR-1 gene product associated with fragile X syndrome

inferredcites →https://doi.org/10.1038/nature08250openalex-snapshot

Targeted capture and massively parallel sequencing of 12 human exomes

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Integrating common and rare genetic variation in diverse human populations

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An integrated map of genetic variation from 1,092 human genomes

inferredcites →https://doi.org/10.1038/ng.2409openalex-snapshot

Exome sequencing identifies MVK mutations in disseminated superficial actinic porokeratosis

inferredcites →https://doi.org/10.1038/ng.499openalex-snapshot

Exome sequencing identifies the cause of a mendelian disorder

inferredcites →https://doi.org/10.1038/ng.646openalex-snapshot

Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome

inferredcites →https://doi.org/10.1038/ng.806openalex-snapshot

A framework for variation discovery and genotyping using next-generation DNA sequencing data

inferredcites →https://doi.org/10.1038/ng0110-13openalex-snapshot

Exome sequencing makes medical genomics a reality

inferredcites →https://doi.org/10.1038/nmeth.1419openalex-snapshot

Target-enrichment strategies for next-generation sequencing

inferredcites →https://doi.org/10.1038/nmeth.1923openalex-snapshot

Fast gapped-read alignment with Bowtie 2

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A method and server for predicting damaging missense mutations

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Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm

inferredcites →https://doi.org/10.1038/nrg2626openalex-snapshot

Sequencing technologies — the next generation

inferredcites →https://doi.org/10.1038/nrg3031openalex-snapshot

Exome sequencing as a tool for Mendelian disease gene discovery

inferredcites →https://doi.org/10.1086/519795openalex-snapshot

PLINK: A Tool Set for Whole-Genome Association and Population-Based Linkage Analyses

inferredcites →https://doi.org/10.1093/hmg/ddt015openalex-snapshot

Cellular interference in craniofrontonasal syndrome: males mosaic for mutations in the X-linked EFNB1 gene are more severely affected than true hemizygotes

inferredcites →https://doi.org/10.1093/hmg/ddt282openalex-snapshot

Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1)

inferredcites →https://doi.org/10.1093/hmg/ddt644openalex-snapshot

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients' neurons

inferredcites →https://doi.org/10.1093/nar/29.1.308openalex-snapshot

dbSNP: the NCBI database of genetic variation

inferredcites →https://doi.org/10.1093/nar/gkq603openalex-snapshot

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data

inferredcites →https://doi.org/10.1101/gad.1807209openalex-snapshot

Ephrin-B1 regulates axon guidance by reverse signaling through a PDZ-dependent mechanism

inferredcites →https://doi.org/10.1101/gr.107524.110openalex-snapshot

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

inferredcites →https://doi.org/10.1111/j.1469-8749.2010.03909.xopenalex-snapshot

Autism in two females with duplications involving Xp11.22-p11.23

inferredcites →https://doi.org/10.1126/science.280.5366.1077openalex-snapshot

Large-Scale Identification, Mapping, and Genotyping of Single-Nucleotide Polymorphisms in the Human Genome

inferredcites →https://doi.org/10.1146/annurev-genom-082509-141640openalex-snapshot

Genetics of Early Onset Cognitive Impairment

inferredcites →https://doi.org/10.1146/annurev-med-051010-162644openalex-snapshot

Human Genome Sequencing in Health and Disease

inferredcites →https://doi.org/10.1186/gb-2011-12-12-r127openalex-snapshot

Interrogation of global mutagenesis data with a genome scale model of Neisseria meningitidis to assess gene fitness in vitro and in sera

inferredcites →https://doi.org/10.1186/gb-2011-12-7-r68openalex-snapshot

Targeted enrichment beyond the consensus coding DNA sequence exome reveals exons with higher variant densities

inferredcites →https://doi.org/10.1186/gb-2011-12-9-228openalex-snapshot

Unlocking Mendelian disease using exome sequencing

inferredcites →https://doi.org/10.1186/gb-2011-12-9-r93openalex-snapshot

Effective detection of rare variants in pooled DNA samples using Cross-pool tailcurve analysis

inferredcites →https://doi.org/10.1371/journal.pone.0088325openalex-snapshot

Cortical Abnormalities and Non-Spatial Learning Deficits in a Mouse Model of CranioFrontoNasal Syndrome

inferredcites →https://doi.org/10.1523/jneurosci.0937-07.2007openalex-snapshot

Dysregulated Metabotropic Glutamate Receptor-Dependent Translation of AMPA Receptor and Postsynaptic Density-95 mRNAs at Synapses in a Mouse Model of Fragile X Syndrome

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

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inferred← citeshttps://doi.org/10.1002/acn3.70401openalex-snapshot

Early Clinical, Imaging, and Pathological Characteristics of SRPK3 / TTN ‐Digenic Myopathy

inferred← citeshttps://doi.org/10.1002/ajmg.a.70268openalex-snapshot

Abidi Syndrome and Another Family With X‐Linked Intellectual Disability Have TAF1 Variants and Reduced Phosphorylation of RNA Polymerase II Associated Protein 74

inferred← citeshttps://doi.org/10.1002/chem.202000155openalex-snapshot

Molecular Interrogation to Crack the Case of O‐GlcNAc

inferred← citeshttps://doi.org/10.1002/humu.23936openalex-snapshot

Missense variants in TAF1 and developmental phenotypes: Challenges of determining pathogenicity

inferred← citeshttps://doi.org/10.1002/jgm.3307openalex-snapshot

A novel missense mutation in the UBE2A gene causes intellectual disability in the large X‐linked family

inferred← citeshttps://doi.org/10.1002/mgg3.2034openalex-snapshot

X‐linked mental retardation‐hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G>C mutation in the ATRX gene

inferred← citeshttps://doi.org/10.1002/mgg3.569openalex-snapshot

Dysregulations of sonic hedgehog signaling in MED12‐related X‐linked intellectual disability disorders

inferred← citeshttps://doi.org/10.1007/978-981-97-4864-8_8openalex-snapshot

O-GlcNAcylation in Neuronal Development, Neurodegeneration, and Neurological Disorders

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Association Between Decreased Srpk3 Expression and Increased Substantia Nigra Alpha-Synuclein Level in an MPTP-Induced Parkinson’s Disease Mouse Model

inferred← citeshttps://doi.org/10.1016/j.chembiol.2018.03.004openalex-snapshot

The O-GlcNAc Transferase Intellectual Disability Mutation L254F Distorts the TPR Helix

inferred← citeshttps://doi.org/10.1016/j.devcel.2020.09.025openalex-snapshot

Functional Diversification of SRSF Protein Kinase to Control Ubiquitin-Dependent Neurodevelopmental Signaling

inferred← citeshttps://doi.org/10.1016/j.ejmg.2017.07.002openalex-snapshot

The first patient with sporadic X-linked intellectual disability with de novo ZDHHC9 mutation identified by targeted next-generation sequencing

inferred← citeshttps://doi.org/10.1016/j.genrep.2018.06.011openalex-snapshot

A novel de novo heterozygous deletion at 13q14.2-q21.1 in two siblings with mild intellectual disability

inferred← citeshttps://doi.org/10.1016/j.jbc.2026.113134openalex-snapshot

Systematic mapping of O-GlcNAc transferase and O-GlcNAcase defines disease-associated variants

inferred← citeshttps://doi.org/10.1016/j.jstrokecerebrovasdis.2016.09.003openalex-snapshot

Exome Sequencing Identified CCER2 as a Novel Candidate Gene for Moyamoya Disease

inferred← citeshttps://doi.org/10.1016/j.mcn.2026.104115openalex-snapshot

HUWE1 interactomes reveal sex-specific networks of nucleic acid-binding proteins

inferred← citeshttps://doi.org/10.1016/j.neuron.2017.02.031openalex-snapshot

GRASP1 Regulates Synaptic Plasticity and Learning through Endosomal Recycling of AMPA Receptors

inferred← citeshttps://doi.org/10.1016/j.neuron.2022.06.020openalex-snapshot

Can the “female protective effect” liability threshold model explain sex differences in autism spectrum disorder?

inferred← citeshttps://doi.org/10.1016/j.ymgme.2024.108492openalex-snapshot

Neuroectoderm phenotypes in a human stem cell model of O-GlcNAc transferase associated with intellectual disability

inferred← citeshttps://doi.org/10.1021/acs.chemrev.4c00417openalex-snapshot

Opportunities for Therapeutic Modulation of O-GlcNAc

inferred← citeshttps://doi.org/10.1038/hgv.2017.19openalex-snapshot

A novel UBE2A mutation causes X-linked intellectual disability type Nascimento

inferred← citeshttps://doi.org/10.1038/s41388-020-1218-3openalex-snapshot

Cancer-derived UTX TPR mutations G137V and D336G impair interaction with MLL3/4 complexes and affect UTX subcellular localization

inferred← citeshttps://doi.org/10.1038/s41431-017-0038-6openalex-snapshot

HUWE1 variants cause dominant X-linked intellectual disability: a clinical study of 21 patients

inferred← citeshttps://doi.org/10.1038/s41431-020-0589-9openalex-snapshot

An intellectual disability syndrome with single-nucleotide variants in O-GlcNAc transferase

inferred← citeshttps://doi.org/10.1038/s41431-023-01335-7openalex-snapshot

Molecular diagnosis of 405 individuals with autism spectrum disorder

inferred← citeshttps://doi.org/10.1038/s41436-020-01040-6openalex-snapshot

De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

inferred← citeshttps://doi.org/10.1038/s41467-020-17452-6openalex-snapshot

Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy

inferred← citeshttps://doi.org/10.1038/s41588-023-01651-0openalex-snapshot

Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy

inferred← citeshttps://doi.org/10.1038/s41589-018-0177-2openalex-snapshot

Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability

inferred← citeshttps://doi.org/10.1038/s41598-019-46632-8openalex-snapshot

TAF1, associated with intellectual disability in humans, is essential for embryogenesis and regulates neurodevelopmental processes in zebrafish

inferred← citeshttps://doi.org/10.1042/bsr20221036openalex-snapshot

Redefining the catalytic HECT domain boundaries for the HECT E3 ubiquitin ligase family

inferred← citeshttps://doi.org/10.1042/bst20220539openalex-snapshot

The O -GlcNAc cycling in neurodevelopment and associated diseases

inferred← citeshttps://doi.org/10.1042/ns20180141openalex-snapshot

A novel variant in TAF1 affects gene expression and is associated with X-linked TAF1 intellectual disability syndrome

inferred← citeshttps://doi.org/10.1074/jbc.m116.771030openalex-snapshot

Identification and characterization of a missense mutation in the O-linked β-N-acetylglucosamine (O-GlcNAc) transferase gene that segregates with X-linked intellectual disability

inferred← citeshttps://doi.org/10.1074/jbc.m117.790097openalex-snapshot

Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability

inferred← citeshttps://doi.org/10.1074/jbc.ra118.002580openalex-snapshot

Effects of hypo-O-GlcNAcylation on Drosophila development

inferred← citeshttps://doi.org/10.1074/jbc.ra118.002583openalex-snapshot

O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling

inferred← citeshttps://doi.org/10.1093/bioinformatics/btw381openalex-snapshot

Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes

inferred← citeshttps://doi.org/10.1093/hmg/ddx426openalex-snapshot

FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis

inferred← citeshttps://doi.org/10.1098/rsos.240790openalex-snapshot

The roles of TAF1 in neuroscience and beyond

inferred← citeshttps://doi.org/10.1101/2022.01.10.475726openalex-snapshot

Intellectual disability-associated disruption of O-GlcNAcylation impairs neuronal development and cognitive function in Drosophila

inferred← citeshttps://doi.org/10.1101/2023.09.18.558285openalex-snapshot

Neuroectoderm phenotypes in a human stem cell model of O-GlcNAc transferase intellectual disability

inferred← citeshttps://doi.org/10.1111/jnc.14242openalex-snapshot

Nutrient‐driven O‐Glc NA c in proteostasis and neurodegeneration

inferred← citeshttps://doi.org/10.1152/ajpcell.00191.2023openalex-snapshot

Hexosamine biosynthetic pathway and O-GlcNAc cycling of glucose metabolism in brain function and disease

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inferred← citeshttps://doi.org/10.11606/t.41.2019.tde-18022019-173017openalex-snapshot

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inferred← citeshttps://doi.org/10.1186/s13229-017-0133-0openalex-snapshot

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The role of O-GlcNAcylation in development

inferred← citeshttps://doi.org/10.1371/journal.pgen.1010159openalex-snapshot

Intellectual disability-associated disruption of O-GlcNAc cycling impairs habituation learning in Drosophila

inferred← citeshttps://doi.org/10.1371/journal.pone.0260072openalex-snapshot

O-GlcNAc transferase OGT-1 and the ubiquitin ligase EEL-1 modulate seizure susceptibility in C. elegans

inferred← citeshttps://doi.org/10.21203/rs.3.rs-7222390/v1openalex-snapshot

Novel missense variants of TAF1 are associated with infantile epileptic spasms and impaired neuronal excitability and development

inferred← citeshttps://doi.org/10.3389/fnins.2022.846272openalex-snapshot

Transcription Pause and Escape in Neurodevelopmental Disorders

inferred← citeshttps://doi.org/10.3389/fnmol.2015.00083openalex-snapshot

Missense Mutation R338W in ARHGEF9 in a Family with X-linked Intellectual Disability with Variable Macrocephaly and Macro-Orchidism

inferred← citeshttps://doi.org/10.3389/fragi.2020.620382openalex-snapshot

New Insights Into the Biology of Protein O-GlcNAcylation: Approaches and Observations

inferred← citeshttps://doi.org/10.3390/genes11010051openalex-snapshot

Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability

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Caracterização de CNVS patogênicas em quatro indivíduos do sexo masculino com deficiência intelectual ligada ao X

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Identification of genetic causes of congenital neurodevelopmental disorders using genome wide molecular technologies

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Déficience intellectuelle : identification de nouveaux gènes par une approche multicentrique

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