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Primary complex motor stereotypies are associated with de novo damaging DNA coding mutations that identify candidate risk genes and biological pathways

https://doi.org/10.1101/730952
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What this work says

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

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Punding in Parkinson's disease: Its relation to the dopamine dysregulation syndrome
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Complex stereotypies after right putaminal infarction: A case report
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The characterization and outcome of stereotypic movements in nonautistic children
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Induction of oral stereotypy following amphetamine microinjection into a discrete subregion of the striatum
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Prevalence and functions of stereotyped behaviors in nonhandicapped children in residential care
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Repetitive behaviors in autistic disorder.
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Repetitive Behaviour and Play in Typically Developing Children and Children with Autism Spectrum Disorders
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Stereotyped Motor Behaviors Associated with Autism in High-risk Infants: A Pilot Videotape Analysis of a Sibling Sample
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Relationship Between Symptom Domains in Autism Spectrum Disorders: A Population Based Twin Study
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Stereotypic movement disorders
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Spatial and Temporal Mapping of De Novo Mutations in Schizophrenia to a Fetal Prefrontal Cortical Network
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Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism
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Varying Intolerance of Gene Pathways to Mutational Classes Explain Genetic Convergence across Neuropsychiatric Disorders
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De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis
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Repetitive arm and hand movements (complex motor stereotypies) in children
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The Simons Simplex Collection: A Resource for Identification of Autism Genetic Risk Factors
inferredcites →https://doi.org/10.1016/j.neuron.2015.09.016openalex-snapshot
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci
inferredcites →https://doi.org/10.1016/j.neuron.2017.04.024openalex-snapshot
De Novo Coding Variants Are Strongly Associated with Tourette Disorder
inferredcites →https://doi.org/10.1016/j.pediatrneurol.2004.09.005openalex-snapshot
Frontal white matter reductions in healthy males with complex stereotypies
inferredcites →https://doi.org/10.1016/j.pediatrneurol.2007.12.008openalex-snapshot
Nonautistic Motor Stereotypies: Clinical Features and Longitudinal Follow-Up
inferredcites →https://doi.org/10.1016/j.pediatrneurol.2014.11.002openalex-snapshot
Primary Complex Motor Stereotypies in Older Children and Adolescents: Clinical Features and Longitudinal Follow-Up
inferredcites →https://doi.org/10.1016/j.pediatrneurol.2016.08.023openalex-snapshot
Anomalous Putamen Volume in Children With Complex Motor Stereotypies
inferredcites →https://doi.org/10.1016/j.ridd.2006.01.004openalex-snapshot
Stereotypy in young children with autism and typically developing children
inferredcites →https://doi.org/10.1016/j.ridd.2008.06.003openalex-snapshot
The relationship between stereotyped movements and self-injurious behavior in children with developmental or sensory disabilities
inferredcites →https://doi.org/10.1016/j.spen.2009.03.008openalex-snapshot
Motor Stereotypies
inferredcites →https://doi.org/10.1016/s0022-3476(78)80922-6openalex-snapshot
Body rocking, head banging, and head rolling in normal children
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Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
inferredcites →https://doi.org/10.1016/s0891-4222(97)00023-1openalex-snapshot
The effect of stereotypies on adaptive skills as assessed with the DASH-II and Vineland Adaptive Behavior Scales
inferredcites →https://doi.org/10.1023/a:1005596502855openalex-snapshot
Varieties of Repetitive Behavior in Autism: Comparisons to Mental Retardation
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A Screening Questionnaire for Asperger Syndrome and Other High-Functioning Autism Spectrum Disorders in School Age Children
inferredcites →https://doi.org/10.1023/a:1023080005650openalex-snapshot
Autism During Infancy: A Retrospective Video Analysis of Sensory-Motor and Social Behaviors at 9–12 Months of Age
inferredcites →https://doi.org/10.1037/t00680-000openalex-snapshot
ADHD Rating Scale-IV: School Checklist
inferredcites →https://doi.org/10.1038/mp.2014.29openalex-snapshot
De novo mutations in schizophrenia implicate chromatin remodeling and support a genetic overlap with autism and intellectual disability
inferredcites →https://doi.org/10.1038/mp.2017.114openalex-snapshot
ASD restricted and repetitive behaviors associated at 17q21.33: genes prioritized by expression in fetal brains
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Spatio-temporal transcriptome of the human brain
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De novo mutations in histone-modifying genes in congenital heart disease
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De novo mutations in schizophrenia implicate synaptic networks
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Genome sequencing identifies major causes of severe intellectual disability
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Analysis of protein-coding genetic variation in 60,706 humans
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Prevalence and architecture of de novo mutations in developmental disorders
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Increased exonic de novo mutation rate in individuals with schizophrenia
inferredcites →https://doi.org/10.1038/ng.902openalex-snapshot
Exome sequencing supports a de novo mutational paradigm for schizophrenia
inferredcites →https://doi.org/10.1038/nprot.2016.117openalex-snapshot
Analyzing and interpreting genome data at the network level with ConsensusPathDB
inferredcites →https://doi.org/10.1038/tp.2016.30openalex-snapshot
Whole-exome sequencing in obsessive-compulsive disorder identifies rare mutations in immunological and neurodevelopmental pathways
inferredcites →https://doi.org/10.1056/nejmoa1206524openalex-snapshot
Diagnostic Exome Sequencing in Persons with Severe Intellectual Disability
inferredcites →https://doi.org/10.1073/pnas.1324036111openalex-snapshot
Histone demethylase KDM5B is a key regulator of genome stability
inferredcites →https://doi.org/10.1074/jbc.m115.698449openalex-snapshot
Characterization of a Linked Jumonji Domain of the KDM5/JARID1 Family of Histone H3 Lysine 4 Demethylases
inferredcites →https://doi.org/10.1080/09297040600630288openalex-snapshot
Association Between Restricted and Repetitive Behaviors and Nonverbal IQ in Children with Autism Spectrum Disorders
inferredcites →https://doi.org/10.1093/bioinformatics/btp324openalex-snapshot
Fast and accurate short read alignment with Burrows–Wheeler transform
inferredcites →https://doi.org/10.1093/bioinformatics/btp698openalex-snapshot
Fast and accurate long-read alignment with Burrows–Wheeler transform
inferredcites →https://doi.org/10.1093/bioinformatics/btq559openalex-snapshot
Robust relationship inference in genome-wide association studies
inferredcites →https://doi.org/10.1093/bioinformatics/btr330openalex-snapshot
The variant call format and VCFtools
inferredcites →https://doi.org/10.1093/med/9780195371826.003.0045openalex-snapshot
Autism Endophenotypes and Quantitative Trait Loci
inferredcites →https://doi.org/10.1093/nar/gkq130openalex-snapshot
Analytical approaches to RNA profiling data for the identification of genes enriched in specific cells
inferredcites →https://doi.org/10.1093/nar/gkq603openalex-snapshot
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
inferredcites →https://doi.org/10.1097/00004583-199704000-00019openalex-snapshot
The Multidimensional Anxiety Scale for Children (MASC): Factor Structure, Reliability, and Validity
inferredcites →https://doi.org/10.1097/00004583-199706000-00023openalex-snapshot
Children's Yale-Brown Obsessive Compulsive Scale: Reliability and Validity
inferredcites →https://doi.org/10.1097/00004583-199807000-00010openalex-snapshot
Nervous Habits and Stereotyped Behaviors in Preschool Children
inferredcites →https://doi.org/10.1097/00004583-199807000-00011openalex-snapshot
Six‐Year Predictors of Problems in a National Sample: IV. Young Adult Signs of Disturbance
inferredcites →https://doi.org/10.1097/wnr.0b013e3282faa8d8openalex-snapshot
Neuroanatomic correlates of autism and stereotypy in children with Down syndrome
inferredcites →https://doi.org/10.1101/127712openalex-snapshot
De novo damaging coding mutations are strongly associated with obsessive-compulsive disorder and overlap with autism
inferredcites →https://doi.org/10.1101/277707openalex-snapshot
ASD and ADHD have a similar burden of rare protein-truncating variants
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/dmcn.13164openalex-snapshot
Efficacy of parent‐delivered behavioral therapy for primary complex motor stereotypies
inferredcites →https://doi.org/10.1111/j.1365-2788.2004.00632.xopenalex-snapshot
The early development of stereotypy and self‐injury: a review of research methods
inferredcites →https://doi.org/10.1111/j.1469-7610.2007.01778.xopenalex-snapshot
Repetitive behaviours in typically developing 2‐year‐olds
inferredcites →https://doi.org/10.1111/j.1469-8749.2008.03178.xopenalex-snapshot
Motor stereotypies in children with autism and other developmental disorders
inferredcites →https://doi.org/10.1111/j.1469-8749.2010.03627.xopenalex-snapshot
Stereotypic movement disorder: easily missed
inferredcites →https://doi.org/10.1111/nyas.12281openalex-snapshot
Motor control, habits, complex motor stereotypies, and Tourette syndrome
inferredcites →https://doi.org/10.1126/science.aac9396openalex-snapshot
De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies
inferredcites →https://doi.org/10.1176/appi.books.9780890425596openalex-snapshot
Diagnostic and Statistical Manual of Mental Disorders
inferredcites →https://doi.org/10.1177/08830738060210020701openalex-snapshot
Behavioral Therapy for Treatment of Stereotypic Movements in Nonautistic Children
inferredcites →https://doi.org/10.1186/gb-2014-15-2-r32openalex-snapshot
KDM5B focuses H3K4 methylation near promoters and enhancers during embryonic stem cell self-renewal and differentiation
inferredcites →https://doi.org/10.1212/wnl.57.4.711openalex-snapshot
Stereotyped stepping associated with lesions in the bilateral medial frontoparietal cortices
inferredcites →https://doi.org/10.1352/0895-8017(1999)104<0001:sbaohi>2.0.co;2openalex-snapshot
Self-Reported Body-Rocking and Other Habits in College Students
inferredcites →https://doi.org/10.1371/journal.pgen.1003671openalex-snapshot
Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes
inferredcites →https://doi.org/10.1371/journal.pgen.1004772openalex-snapshot
De Novo Mutations in Moderate or Severe Intellectual Disability
inferredcites →https://doi.org/10.2217/epi.14.14openalex-snapshot
The Kdm5 Family of Histone Demethylases as Targets in Oncology Drug Discovery
inferredcites →https://doi.org/10.2217/fnl.13.4openalex-snapshot
Complex Motor Stereotypies: An Evolving Neurobiological Concept
inferredcites →https://doi.org/10.3174/ajnr.a4547openalex-snapshot
GABA and Glutamate in Children with Primary Complex Motor Stereotypies: An1H-MRS Study at 7T
inferredcites →https://doi.org/10.31887/dcns.2012.14.3/cdoyleopenalex-snapshot
Pharmacologic treatments for the behavioral symptoms associated with autism spectrum disorders across the lifespan

What points at this work

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

inferred← citeshttps://doi.org/10.1016/b978-0-12-824060-1.00044-4openalex-snapshot
The neurodevelopmental movement disorders: tics and stereotypies
inferred← citeshttps://doi.org/10.1136/archdischild-2021-322624openalex-snapshot
Clinical management of complex motor stereotypies
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