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Lista de obras de Joseph Buxbaum

A Replication of the Autism Diagnostic Observation Schedule (ADOS) Revised Algorithms

artículo científico publicado en 2008

A Simplified Diagnostic Observational Assessment of Autism Spectrum Disorder in Early Childhood

artículo científico publicado en 2015

A clinician-administered observation and corresponding caregiver interview capturing DSM-5 sensory reactivity symptoms in children with ASD.

artículo científico publicado en 2017

A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism

artículo científico publicado en 2012

A consensus protocol for functional connectivity analysis in the rat brain

artículo científico publicado en 2023

A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects

A critical role for human caspase-4 in endotoxin sensitivity

artículo científico publicado en 2014

A critical role for the protein tyrosine phosphatase receptor type Z in functional recovery from demyelinating lesions

artículo científico publicado en 2002

A first update on mapping the human genetic architecture of COVID-19

artículo científico publicado en 2022

A framework for an evidence-based gene list relevant to autism spectrum disorder

artículo científico publicado en 2020

A framework for the interpretation of de novo mutation in human disease

artículo científico publicado en 2014

A genome-wide scan for common alleles affecting risk for autism

scientific journal article

A genome-wide scan statistic framework for whole-genome sequence data analysis

scientific article published on 09 July 2019

A genome-wide study reveals copy number variants exclusive to childhood obesity cases

artículo científico publicado en 2010

A high proportion of polymorphisms in the promoters of brain expressed genes influences transcriptional activity

article

A large-scale screen for coding variants in SERT/SLC6A4 in autism spectrum disorders

artículo científico publicado en 2008

A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region

artículo científico publicado en 2010

A macromolecular complex involving the amyloid precursor protein (APP) and the cytosolic adapter FE65 is a negative regulator of axon branching

artículo científico publicado en 2007

A microtiter-based assay for protein kinase activity suitable for the analysis of large numbers of samples, and its application to the study of Drosophila learning mutants

artículo científico publicado en 1988

A new testing strategy to identify rare variants with either risk or protective effect on disease

artículo científico publicado en 2011

A novel Alzheimer disease locus located near the gene encoding tau protein.

artículo científico publicado en 2015

A novel Polish presenilin-1 mutation (P117L) is associated with familial Alzheimer's disease and leads to death as early as the age of 28 years

artículo científico publicado en 1998

A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder

artículo científico publicado en 2011

A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome

artículo científico publicado en 2014

A quantitative model for the kinetics of cAMP-dependent protein kinase (type II) activity. Long-term activation of the kinase and its possible relevance to learning and memory

artículo científico publicado en 1989

A role for APP in motility and transcription?

A role for calsenilin and related proteins in multiple aspects of neuronal function

artículo científico publicado en 2004

A spectral approach integrating functional genomic annotations for coding and noncoding variants

artículo científico publicado en 2016

APOE genotype results in differential effects on the peripheral clearance of amyloid-beta42 in APOE knock-in and knock-out mice

artículo científico publicado en 2010

APP processing, A beta-amyloidogenesis, and the pathogenesis of Alzheimer's disease

artículo científico publicado en 1994

Abeta localization in abnormal endosomes: association with earliest Abeta elevations in AD and Down syndrome

artículo científico publicado en 2004

Absence of strong strain effects in behavioral analyses of Shank3-deficient mice

artículo científico publicado en 2014

Advanced paternal age is associated with altered DNA methylation at brain-expressed imprinted loci in inbred mice: implications for neuropsychiatric disease.

artículo científico publicado en 2012

Advancing paternal age and simplex autism

artículo científico publicado en 2011

Advancing paternal age is associated with deficits in social and exploratory behaviors in the offspring: a mouse model

artículo científico publicado en 2009

Age at first birth in women is genetically associated with increased risk of schizophrenia

artículo científico publicado en 2018

Allelic expression of APOE in human brain: effects of epsilon status and promoter haplotypes

artículo científico publicado en 2004

Altered Abeta formation and long-term potentiation in a calsenilin knock-out

scientific journal article

Altered synaptic ultrastructure in the prefrontal cortex of Shank3-deficient rats

artículo científico publicado en 2020

Altered tactile processing in children with autism spectrum disorder

artículo científico publicado en 2015

Altered ultrasonic vocalization in mice with a disruption in the Foxp2 gene

artículo científico publicado en 2005

Alzheimer amyloid protein precursor in the rat hippocampus: transport and processing through the perforant path ⬇️

artículo científico publicado en 1998

Alzheimer amyloid protein precursor is localized in nerve terminal preparations to Rab5-containing vesicular organelles distinct from those implicated in the synaptic vesicle pathway

scientific journal article

Alzheimer's disease: analyzing the missing heritability

artículo científico publicado en 2013

Amyloid beta peptide formation in cell-free preparations. Regulation by protein kinase C, calmodulin, and calcineurin

artículo científico publicado en 1996

Amyloid beta protein-induced zinc sequestration leads to synaptic loss via dysregulation of the ProSAP2/Shank3 scaffold

artículo científico publicado en 2011

An analysis of candidate autism loci on chromosome 2q24-q33: evidence for association to the STK39 gene

artículo científico publicado en 2008

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

artículo científico publicado en 2018

Analysis of Genetically Regulated Gene Expression Identifies a Prefrontal PTSD Gene, SNRNP35, Specific to Military Cohorts

scientific article published on 01 June 2020

Analysis of Genetically Regulated Gene Expression identifies a trauma type specific PTSD gene, SNRNP35

article

Analysis of a purported SHANK3 mutation in a boy with autism: clinical impact of rare variant research in neurodevelopmental disabilities

artículo científico publicado en 2010

Analysis of rare, exonic variation amongst subjects with autism spectrum disorders and population controls

artículo científico publicado en 2013

Animal Models for Neurodevelopmental Disorders

AnnTools: a comprehensive and versatile annotation toolkit for genomic variants

artículo científico publicado en 2012

Association analysis of the NrCAM gene in autism and in subsets of families with severe obsessive-compulsive or self-stimulatory behaviors

artículo científico publicado en 2006

Association between a GABRB3 polymorphism and autism.

artículo científico publicado en 2002

Association of Autism Spectrum Disorder With Prenatal Exposure to Medication Affecting Neurotransmitter Systems

artículo científico publicado en 2018

Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort

scientific article published on 17 July 2019

Association of Long Runs of Homozygosity With Alzheimer Disease Among African American Individuals

artículo científico publicado en 2015

Atorvastatin-induced activation of Alzheimer's alpha secretase is resistant to standard inhibitors of protein phosphorylation-regulated ectodomain shedding

artículo científico publicado en 2004

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

scientific article published on 01 September 2019

Autism and ultraconserved non-coding sequence on chromosome 7q.

artículo científico publicado en 2006

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes

artículo científico publicado en 2009

Autism spectrum disorder: neuropathology and animal models

artículo científico publicado en 2017

Autism-like Deficits in Shank3-Deficient Mice Are Rescued by Targeting Actin Regulators

artículo científico publicado en 2015

Autism-related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism

artículo científico publicado en 2008

BACE1 and BACE2 in pathologic and normal human muscle

artículo científico publicado en 2003

Behavioral Phenotyping of an Improved Mouse Model of Phelan-McDermid Syndrome with a Complete Deletion of the Gene

article

Biochemical and immunocytochemical characterization of calsenilin in mouse brain

artículo científico publicado en 2002

Brain expression genome-wide association study (eGWAS) identifies human disease-associated variants

artículo científico publicado en 2012

Brief report: the Autism Mental Status Examination: development of a brief autism-focused exam

artículo científico publicado en 2012

Calcium regulates processing of the Alzheimer amyloid protein precursor in a protein kinase C-independent manner

artículo científico publicado en 1994

Calcium-regulated DNA binding and oligomerization of the neuronal calcium-sensing protein, calsenilin/DREAM/KChIP3

artículo científico publicado en 2001

Calsenilin enhances apoptosis by altering endoplasmic reticulum calcium signaling

artículo científico publicado en 2002

Calsenilin interacts with transcriptional co-repressor C-terminal binding protein(s).

artículo científico publicado en 2006

Calsenilin is a substrate for caspase-3 that preferentially interacts with the familial Alzheimer's disease-associated C-terminal fragment of presenilin 2

artículo científico publicado en 2001

Calsenilin is degraded by the ubiquitin-proteasome pathway

artículo científico publicado en 2011

Calsenilin regulates presenilin 1/γ-secretase-mediated N-cadherin ε-cleavage and β-catenin signaling

artículo científico publicado en 2011

Calsenilin, a Presenilin Interactor, Regulates RhoA Signaling and Neurite Outgrowth.

artículo científico publicado en 2018

Calsenilin: a calcium-binding protein that interacts with the presenilins and regulates the levels of a presenilin fragment

artículo científico publicado en 1998

Canonical Inflammasomes Drive IFN-γ to Prime Caspase-11 in Defense against a Cytosol-Invasive Bacterium

artículo científico publicado en 2015

Capping four years of growth of Molecular Autism: impact factor coming in 2014.

artículo científico publicado en 2013

Characterization of KIAA0513, a novel signaling molecule that interacts with modulators of neuroplasticity, apoptosis, and the cytoskeleton

artículo científico publicado en 2006

Characterization of SLITRK1 variation in obsessive-compulsive disorder

scientific journal article

Characterization of alternative routes for processing of the Alzheimer beta/A4-amyloid precursor protein. Differential effects of phorbol esters and chloroquine

artículo científico publicado el 31 de diciembre de 1992

Characterization of new polyclonal antibodies specific for 40 and 42 amino acid-long amyloid beta peptides: their use to examine the cell biology of presenilins and the immunohistochemistry of sporadic Alzheimer's disease and cerebral amyloid angiop

artículo científico publicado en 1997

Chloroquine inhibits intracellular degradation but not secretion of Alzheimer beta/A4 amyloid precursor protein

artículo científico publicado en 1992

Cholesterol depletion with physiological concentrations of a statin decreases the formation of the Alzheimer amyloid Abeta peptide

artículo científico publicado en 2001

Cholinergic agonists and interleukin 1 regulate processing and secretion of the Alzheimer beta/A4 amyloid protein precursor

artículo científico publicado en 1992

Co-localization between Sequence Constraint and Epigenomic Information Improves Interpretation of Whole-Genome Sequencing Data

scientific article published on 01 April 2020

Cohort profile: Epidemiology and Genetics of Obsessive-compulsive disorder and chronic tic disorders in Sweden (EGOS)

scientific article published on 06 January 2020

Common genetic variants on 5p14.1 associate with autism spectrum disorders

artículo científico publicado en 2009

Common risk variants identified in autism spectrum disorder

Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease

artículo científico publicado en 2011

CommonMind Consortium provides transcriptomic and epigenomic data for Schizophrenia and Bipolar Disorder

scientific article published on 24 September 2019

Complex autism spectrum disorder in a patient with a 17q12 microduplication

scholarly article by Tracy Brandt et al published 4 April 2012 in American Journal of Medical Genetics

Comprehensive search for Alzheimer disease susceptibility loci in the APOE region

artículo científico publicado en 2012

Contrasting genetic architectures of schizophrenia and other complex diseases using fast variance-components analysis

artículo científico publicado en 2015

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

artículo científico publicado en 2016

Contributors

article

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

artículo científico publicado en 2014

Convergent Evidence for 2′,3′-Cyclic Nucleotide 3′-Phosphodiesterase as a Possible Susceptibility Gene for Schizophrenia

article

Convergent evidence that oligodendrocyte lineage transcription factor 2 (OLIG2) and interacting genes influence susceptibility to schizophrenia

artículo científico publicado en 2006

Conversion Discriminative Analysis on Mild Cognitive Impairment Using Multiple Cortical Features from MR Images

artículo científico publicado en 2017

Copy number variants analysis in a cohort of isolated and syndromic developmental delay/intellectual disability reveals novel genomic disorders, position effects and candidate disease genes.

artículo científico publicado en 2017

Copy number variations in alternative splicing gene networks impact lifespan

artículo científico publicado en 2013

Correction: Differential transcriptional response following glucocorticoid activation in cultured blood immune cells: a novel approach to PTSD biomarker development

scientific article published on 06 January 2020

Correlation between Abetax-40-, Abetax-42-, and Abetax-43-containing amyloid plaques and cognitive decline

artículo científico publicado en 2001

Correlation between elevated levels of amyloid beta-peptide in the brain and cognitive decline

artículo científico publicado en 2000

Cyfip1 Regulates Presynaptic Activity during Development

scientific journal article

DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics

artículo científico publicado en 2014

DSM-5 and psychiatric genetics - round hole, meet square peg.

artículo científico publicado en 2015

DSM-5: the debate continues

artículo científico publicado en 2013

De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

artículo científico publicado en 2018

De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis

artículo científico publicado en 2018

De novo SCN2A splice site mutation in a boy with Autism spectrum disorder

artículo científico publicado en 2014

Deletion of the KH1 Domain of Fmr1 Leads to Transcriptional Alterations and Attentional Deficits in Rats

artículo científico publicado en 2019

Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations.

artículo científico publicado en 2018

Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities

scientific journal article

Developmental social communication deficits in the Shank3 rat model of phelan-mcdermid syndrome and autism spectrum disorder.

artículo científico publicado en 2018

Did Hans Asperger actively assist the Nazi euthanasia program?

artículo científico publicado en 2018

Dietary composition modulates brain mass and solubilizable Abeta levels in a mouse model of aggressive Alzheimer's amyloid pathology

artículo científico publicado en 2009

Differential transcriptional response following glucocorticoid activation in cultured blood immune cells: a novel approach to PTSD biomarker development

scientific article published on 21 August 2019

Diffusion Tensor Imaging Abnormalities in the Uncinate Fasciculus and Inferior Longitudinal Fasciculus in Phelan-McDermid Syndrome

artículo científico publicado en 2020

Disease susceptibility genes for autism

artículo científico publicado en 2003

Disrupted circuits in mouse models of autism spectrum disorder and intellectual disability.

artículo científico publicado en 2017

Downstream regulatory element antagonistic modulator regulates islet prodynorphin expression.

artículo científico publicado en 2006

Elevated plasma cholesterol does not affect brain Abeta in mice lacking the low-density lipoprotein receptor

artículo científico publicado en 2007

Elevated polygenic burden for autism is associated with differential DNA methylation at birth

artículo científico publicado en 2018

Enhanced striatal dopamine transmission and motor performance with LRRK2 overexpression in mice is eliminated by familial Parkinson's disease mutation G2019S

scientific journal article

Epigenetic Biomarkers as Predictors and Correlates of Symptom Improvement Following Psychotherapy in Combat Veterans with PTSD.

artículo científico publicado en 2013

Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype

scientific article published on 03 August 2020

Erratum to: Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome

artículo científico publicado en 2016

Erratum: A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome

artículo científico publicado en 2015

Estimation of Genetic Correlation via Linkage Disequilibrium Score Regression and Genomic Restricted Maximum Likelihood.

artículo científico publicado en 2018

Estrogen reduces neuronal generation of Alzheimer beta-amyloid peptides

artículo científico publicado en 1998

Evidence against a role for rare ADAM10 mutations in sporadic Alzheimer disease

artículo científico publicado en 2010

Evidence against roles for phorbol binding protein Munc13-1, ADAM adaptor Eve-1, or vesicle trafficking phosphoproteins Munc18 or NSF as phospho-state-sensitive modulators of phorbol/PKC-activated Alzheimer APP ectodomain shedding

artículo científico publicado en 2007

Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women

artículo científico publicado en 2016

Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity

artículo científico publicado en 2001

Evidence that tumor necrosis factor alpha converting enzyme is involved in regulated alpha-secretase cleavage of the Alzheimer amyloid protein precursor

artículo científico publicado en 1998

Examining the Efficacy of a Family Peer Advocate Model for Black and Hispanic Caregivers of Children with Autism Spectrum Disorder

artículo científico publicado en 2017

Exceptionally low likelihood of Alzheimer's dementia in APOE2 homozygotes from a 5,000-person neuropathological study

artículo científico publicado en 2020

Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia

artículo científico publicado en 2011

Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative

artículo científico publicado en 2022

Expression of APP in brains of transgenic mice containing the entire human APP gene

artículo científico publicado en 1993

Expression of calsenilin in neurons and astrocytes in the Alzheimer's disease brain

artículo científico publicado en 2005

Expression profiling associates blood and brain glucocorticoid receptor signaling with trauma-related individual differences in both sexes

artículo científico publicado en 2014

Extensive proteomic screening identifies the obesity-related NYGGF4 protein as a novel LRP1-interactor, showing reduced expression in early Alzheimer's disease

scientific journal article

FE65 binds Teashirt, inhibiting expression of the primate-specific caspase-4

artículo científico publicado en 2009

FUN-LDA: A Latent Dirichlet Allocation Model for Predicting Tissue-Specific Functional Effects of Noncoding Variation: Methods and Applications

artículo científico publicado en 2018

Familial clustering of tic disorders and obsessive-compulsive disorder

artículo científico publicado en 2015

Familial symptom domains in monozygotic siblings with autism

artículo científico publicado en 2004

Family-based association study of TPH1 and TPH2 polymorphisms in autism

artículo científico publicado en 2006

Family-based association tests for sequence data, and comparisons with population-based association tests

artículo científico publicado en 2013

Finding disease variants in Mendelian disorders by using sequence data: methods and applications

artículo científico publicado en 2011

Fine mapping of the 5p13 locus linked to schizophrenia and schizotypal personality disorder in a Puerto Rican family

scientific article published on 01 September 2005

Formamidines interact withDrosophila octopamine receptors, alter the flies' behavior and reduce their learning ability

Functional analysis of <i>TLK2</i> variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis

artículo científico publicado en 2020

Functional impact of global rare copy number variation in autism spectrum disorders

artículo científico publicado en 2010

GJA1 (connexin43) is a key regulator of Alzheimer's disease pathogenesis

artículo científico publicado en 2018

Gene expression elucidates functional impact of polygenic risk for schizophrenia

artículo científico publicado en 2016

Gene expression imputation across multiple brain regions provides insights into schizophrenia risk

article

Gene expression in cord blood links genetic risk for neurodevelopmental disorders with maternal psychological distress and adverse childhood outcomes

article

Gene expression in cord blood links genetic risk for neurodevelopmental disorders with maternal psychological distress and adverse childhood outcomes

Gene expression patterns associated with posttraumatic stress disorder following exposure to the World Trade Center attacks

artículo científico publicado en 2009

Gene-ontology enrichment analysis in two independent family-based samples highlights biologically plausible processes for autism spectrum disorders

artículo científico publicado en 2011

Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease

artículo científico publicado en 2014

Generation and regulation of beta-amyloid peptide variants by neurons

artículo científico publicado en 1998

Genetic markers for PTSD risk and resilience among survivors of the World Trade Center attacks

artículo científico publicado en 2011

Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing

artículo científico publicado en 2019

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

artículo científico publicado en 2013

Genetic risk for schizophrenia and autism, social impairment and developmental pathways to psychosis

scientific article published on 26 September 2018

Genetically elevated high-density lipoprotein cholesterol through the cholesteryl ester transfer protein gene does not associate with risk of Alzheimer's disease

article

Genetics and genomics of autism spectrum disorder: embracing complexity

artículo científico publicado en 2015

Genetics in psychiatry: common variant association studies

scientific article published on 25 March 2010

Genome-wide analyses of exonic copy number variants in a family-based study point to novel autism susceptibility genes

artículo científico publicado en 2009

Genome-wide association meta-analysis of neuropathologic features of Alzheimer's disease and related dementias

artículo científico publicado en 2014

Genome-wide association study reveals greater polygenic loading for schizophrenia in cases with a family history of illness

artículo científico publicado en 2015

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder

artículo científico publicado en 2011

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

artículo científico publicado en 2018

Genome-wide expression analysis reveals dysregulation of myelination-related genes in chronic schizophrenia

artículo científico publicado en 2001

Genome-wide linkage analyses of quantitative and categorical autism subphenotypes

artículo científico publicado en 2008

Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes

article

Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes

artículo científico publicado en 2017

Genomic structure, expression pattern, and chromosomal localization of the human calsenilin gene: no association between an exonic polymorphism and Alzheimer's disease

artículo científico publicado en 2000

Getting from 1,000 Genes to a Triad of Symptoms

article

Global and local ancestry in African-Americans: Implications for Alzheimer's disease risk

artículo científico publicado en 2015

Global landscape and genetic regulation of RNA editing in cortical samples from individuals with schizophrenia

scientific article published on 27 August 2019

Grandma knows best: Family structure and age of diagnosis of autism spectrum disorder.

artículo científico publicado en 2016

HDAC2 regulates atypical antipsychotic responses through the modulation of mGlu2 promoter activity.

artículo científico publicado en 2012

Haploinsufficiency of Cyfip1 produces fragile X-like phenotypes in mice

artículo científico publicado en 2012

Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions

artículo científico publicado en 2010

Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication

artículo científico publicado en 2010

Heritable Variation, With Little or No Maternal Effect, Accounts for Recurrence Risk to Autism Spectrum Disorder in Sweden

artículo científico publicado en 2017

High-density SNP association study and copy number variation analysis of the AUTS1 and AUTS5 loci implicate the IMMP2L-DOCK4 gene region in autism susceptibility

artículo científico publicado en 2009

Highly conserved molecular pathways, including Wnt signaling, promote functional recovery from spinal cord injury in lampreys

artículo científico publicado en 2018

Human Induced Pluripotent Stem Cells: A New Model for Schizophrenia?

article

Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome

artículo científico publicado en 2012

Identification of common genetic risk variants for autism spectrum disorder

artículo científico publicado en 2019

Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism

artículo científico publicado en 2014

Identification of rare de novo epigenetic variations in congenital disorders.

artículo científico publicado en 2018

Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder

artículo científico publicado en 2013

In vitro protein phosphorylation in head preparations from normal and mutant Drosophila melanogaster

artículo científico publicado en 1987

In vivo 1H-magnetic resonance spectroscopy study of the attentional networks in autism

artículo científico publicado en 2010

In vivo protein phosphorylation in Drosophila mutants defective in learning and memory

artículo científico publicado en 1989

Increased expression of receptor phosphotyrosine phosphatase-β/ζ is associated with molecular, cellular, behavioral and cognitive schizophrenia phenotypes

artículo científico publicado en 2011

Increased locomotor activity in mice lacking the low-density lipoprotein receptor

artículo científico publicado en 2008

Increased secretion of the amino-terminal fragment of amyloid precursor protein in brains of rats with a constitutive up-regulation of protein kinase C.

artículo científico publicado en 1997

Individual common variants exert weak effects on the risk for autism spectrum disorders

scientific journal article

Initial assessment of the pathogenic mechanisms of the recently identified Alzheimer risk Loci

artículo científico publicado en 2013

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci

artículo científico publicado en 2015

Insulin degrading enzyme activity selectively decreases in the hippocampal formation of cases at high risk to develop Alzheimer's disease

artículo científico publicado en 2006

Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay

artículo científico publicado en 2013

Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders

artículo científico publicado en 2017

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes

artículo científico publicado en 2013

Integrative network analysis of nineteen brain regions identifies molecular signatures and networks underlying selective regional vulnerability to Alzheimer's disease

artículo científico publicado en 2016

Interaction Testing and Polygenic Risk Scoring to Estimate the Association of Common Genetic Variants With Treatment Resistance in Schizophrenia

artículo científico publicado en 2022

Interaction of the phosphotyrosine interaction/phosphotyrosine binding-related domains of Fe65 with wild-type and mutant Alzheimer's beta-amyloid precursor proteins

artículo científico publicado en 1997

Intestinal dysmotility in a zebrafish () mutant model of autism

artículo científico publicado en 2019

Intracellular calcium modulates the nuclear translocation of calsenilin.

artículo científico publicado en 2004

Intraneuronal Abeta42 accumulation in human brain.

artículo científico publicado en 2000

Introduction of the human AVPR1A gene substantially alters brain receptor expression patterns and enhances aspects of social behavior in transgenic mice

artículo científico publicado en 2014

Lack of association between the levels of the low-density lipoprotein receptor-related protein (LRP) and either Alzheimer dementia or LRP exon 3 genotype

artículo científico publicado en 2003

Lack of evidence for association of the serotonin transporter gene SLC6A4 with autism

artículo científico publicado en 2006

Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS.

artículo científico publicado en 2018

Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder.

artículo científico publicado en 2017

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism

scientific article published on 23 January 2020

Latrepirdine improves cognition and arrests progression of neuropathology in an Alzheimer's mouse model

artículo científico publicado en 2012

Linkage analysis for autism in a subset families with obsessive-compulsive behaviors: evidence for an autism susceptibility gene on chromosome 1 and further support for susceptibility genes on chromosome 6 and 19.

artículo científico publicado en 2004

Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism

artículo científico publicado en 2004

Linkage disequilibrium between an allele at the dopamine D4 receptor locus and Tourette syndrome, by the transmission-disequilibrium test

artículo científico publicado en 1996

Linking oligodendrocyte and myelin dysfunction to neurocircuitry abnormalities in schizophrenia

scientific article published on 13 October 2010

Linking white and grey matter in schizophrenia: oligodendrocyte and neuron pathology in the prefrontal cortex

artículo científico publicado en 2009

Loss of function studies in mice and genetic association link receptor protein tyrosine phosphatase α to schizophrenia

artículo científico publicado en 2011

Lysosomal dysfunction in a mouse model of Sandhoff disease leads to accumulation of ganglioside-bound amyloid-β peptide

artículo científico publicado en 2012

Mapping autism risk loci using genetic linkage and chromosomal rearrangements

artículo científico publicado en 2007

Mapping genomic loci implicates genes and synaptic biology in schizophrenia

artículo científico publicado en 2022

Maternal Effects as Causes of Risk for Obsessive-Compulsive Disorder

scientific article published on 22 January 2020

Maturation of cortical circuits requires Semaphorin 7A

artículo científico publicado en 2014

Measuring Sensory Reactivity in Autism Spectrum Disorder: Application and Simplification of a Clinician-Administered Sensory Observation Scale

artículo científico publicado en 2015

Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes

artículo científico publicado en 2010

Molecular Autism: accelerating and integrating research into neurodevelopmental conditions

artículo científico publicado en 2010

Molecular and cellular basis for anti-amyloid therapy in Alzheimer disease

artículo científico publicado en 2003

Molecular and cellular evidence for an oligodendrocyte abnormality in schizophrenia

artículo científico publicado en 2002

Mosaic epigenetic dysregulation of ectodermal cells in autism spectrum disorder

artículo científico publicado en 2014

Most genetic risk for autism resides with common variation ⬇️

artículo científico publicado en 2014

Multiple rare variants in the etiology of autism spectrum disorders

artículo científico publicado en 2009

Multiplex ligation-dependent probe amplification for genetic screening in autism spectrum disorders: efficient identification of known microduplications and identification of a novel microduplication in ASMT.

artículo científico publicado en 2008

Multiplexed variation scanning for 1,000 amplicons in hundreds of patients using mismatch repair detection (MRD) on tag arrays

artículo científico publicado en 2005

Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly

artículo científico publicado en 2007

Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly

artículo científico publicado en 2007

Network topologies and convergent aetiologies arising from deletions and duplications observed in individuals with autism

artículo científico publicado en 2013

Network- and attribute-based classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability

artículo científico publicado en 2012

Neural Markers of Auditory Response and Habituation in Phelan-McDermid Syndrome

artículo científico publicado en 2022

Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome

artículo científico publicado en 2016

Neuregulin 1-erbB signaling and the molecular/cellular basis of schizophrenia

artículo científico publicado en 2004

Neuronal cyclooxygenase 2 expression in the hippocampal formation as a function of the clinical progression of Alzheimer disease

artículo científico publicado en 2001

Neuropathology of the anterior midcingulate cortex in young children with autism

artículo científico publicado en 2014

Neuropathology of the posteroinferior occipitotemporal gyrus in children with autism.

artículo científico publicado en 2014

Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature

scientific article published on 24 December 2019

New translational perspectives for blood-based biomarkers of PTSD: From glucocorticoid to immune mediators of stress susceptibility

artículo científico publicado en 2016

Next-Generation Sequencing For Gene and Pathway Discovery and Analysis in Autism Spectrum Disorders

article

Nicotinic receptor subtypes in human brain ageing, Alzheimer and Lewy body diseases

article

No evidence for IL1RAPL1 involvement in selected high-risk autism pedigrees from the AGRE data set.

artículo científico publicado en 2011

No obvious abnormality in mice deficient in receptor protein tyrosine phosphatase beta

artículo científico publicado en 2000

Not All Autism Genes Are Created Equal: A Response to Myers et al

artículo científico publicado en 2020

Novel cerebrovascular pathology in mice fed a high cholesterol diet

artículo científico publicado en 2009

Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk

article

Novel late-onset Alzheimer disease loci variants associate with brain gene expression

artículo científico publicado en 2012

Novel neuritic clusters with accumulations of amyloid precursor protein and amyloid precursor-like protein 2 immunoreactivity in brain regions damaged by thiamine deficiency.

artículo científico publicado en 1996

Optimizing the phenotyping of rodent ASD models: enrichment analysis of mouse and human neurobiological phenotypes associated with high-risk autism genes identifies morphological, electrophysiological, neurological, and behavioral features

artículo científico publicado en 2012

Oxytocin improves behavioral and electrophysiological deficits in a novel Shank3-deficient rat

artículo científico publicado en 2017

PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease

artículo científico publicado en 2015

PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility

artículo científico publicado en 2010

PERIPHERAL MYELIN PROTEIN-22 IS EXPRESSED IN CNS MYELIN.

artículo científico publicado en 2010

PGC-1alpha expression decreases in the Alzheimer disease brain as a function of dementia

artículo científico publicado en 2009

PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation

artículo científico publicado en 2014

PTSD Blood Transcriptome Mega-Analysis: Shared Inflammatory Pathways Across Biological Sex and Modes of Trauma.

artículo científico publicado en 2017

Parental Age and Differential Estimates of Risk for Neuropsychiatric Disorders: Findings From the Danish Birth Cohort

scientific article published on 27 February 2019

Patterns and rates of exonic de novo mutations in autism spectrum disorders

artículo científico publicado en 2012

Pepsin pretreatment allows collagen IV immunostaining of blood vessels in adult mouse brain

artículo científico publicado en 2007

Pharmacological concentrations of the HMG-CoA reductase inhibitor lovastatin decrease the formation of the Alzheimer beta-amyloid peptide in vitro and in patients

artículo científico publicado en 2002

Phelan McDermid Syndrome: From Genetic Discoveries to Animal Models and Treatment

artículo científico

Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring

artículo científico publicado en 2014

Phenotypic Impact of Rare Potentially Damaging Copy Number Variation in Obsessive-Compulsive Disorder and Chronic Tic Disorders

artículo científico publicado en 2022

Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID.

artículo científico publicado en 2015

Phosphorylation of calsenilin at Ser63 regulates its cleavage by caspase-3.

artículo científico publicado en 2003

Population‐based identity‐by‐descent mapping combined with exome sequencing to detect rare risk variants for schizophrenia

artículo científico publicado en 2019

Preclinical Animal Models of Autistic Spectrum Disorders (ASD)

scholarly article published 2008

Prenatal Maternal Smoking and Increased Risk for Tourette Syndrome and Chronic Tic Disorders.

artículo científico publicado en 2016

Presence of BACE1 and BACE2 in muscle fibres of patients with sporadic inclusion-body myositis

artículo científico publicado en 2001

Processing of Alzheimer beta/A4 amyloid precursor protein: modulation by agents that regulate protein phosphorylation

artículo científico publicado en 1990

Profiling brain and plasma lipids in human APOE epsilon2, epsilon3, and epsilon4 knock-in mice using electrospray ionization mass spectrometry

artículo científico publicado en 2010

Prospective investigation of FOXP1 syndrome.

artículo científico publicado en 2017

Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency

artículo científico publicado en 2013

Protein phosphorylation inhibits production of Alzheimer amyloid beta/A4 peptide

artículo científico publicado en 1993

Protein phosphorylation regulates relative utilization of processing pathways for Alzheimer beta/A4 amyloid precursor protein

artículo científico publicado en 1993

Protein phosphorylation regulates secretion of Alzheimer beta/A4 amyloid precursor protein

artículo científico publicado en 1992

Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways

artículo científico publicado en 2015

Psychometric Study of the Social Responsiveness Scale in Phelan-McDermid Syndrome

scientific article published on 14 May 2020

Publisher Correction: Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

scientific article published on 14 July 2020

Putative biological mechanisms for the association between early life adversity and the subsequent development of PTSD.

artículo científico publicado en 2010

Randomized comparative trial of a social cognitive skills group for children with autism spectrum disorder

artículo científico publicado en 2014

Rapid and Objective Assessment of Neural Function in Autism Spectrum Disorder Using Transient Visual Evoked Potentials

artículo científico publicado en 2016

Rare complete knockouts in humans: population distribution and significant role in autism spectrum disorders

artículo científico publicado en 2013

Rare structural variation of synapse and neurotransmission genes in autism ⬇️

artículo científico publicado el 1 de marzo de 2011

Rarity of the Alzheimer disease-protective APP A673T variant in the United States

artículo científico publicado en 2015

Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder

artículo científico publicado en 2017

Recent advances in the genetics of autism spectrum disorder

artículo científico

Receptor protein tyrosine phosphatase gamma is a marker for pyramidal cells and sensory neurons in the nervous system and is not necessary for normal development

artículo científico publicado en 2006

Recessive gene disruptions in autism spectrum disorder

artículo científico publicado en 2019

Recurrence Risk of Autism in Siblings and Cousins: A Multinational, Population-Based Study

scientific article published on 06 March 2019

Reduced axonal caliber and structural changes in a rat model of Fragile X syndrome with a deletion of a K-Homology domain of Fmr1

artículo científico publicado en 2020

Reduced excitatory neurotransmission and mild autism-relevant phenotypes in adolescent Shank3 null mutant mice

artículo científico publicado en 2012

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples

artículo científico publicado en 2017

Regeneration in the era of functional genomics and gene network analysis ⬇️

artículo científico publicado en 2011

Regulation of APP processing by intra- and intercellular signals

artículo científico publicado en 1996

Regulation of beta-amyloid secretion by FE65, an amyloid protein precursor-binding protein

artículo científico publicado en 1999

Regulation of secretion of Alzheimer amyloid precursor protein by the mitogen-activated protein kinase cascade

artículo científico publicado en 1998

Regulatory consequences of neuronal ELAV-like protein binding to coding and non-coding RNAs in human brain

artículo científico publicado en 2016

Response to Ott and Hoh.

artículo científico publicado en 2012

Rigor in science and science reporting: updated guidelines for submissions to

artículo científico publicado en 2019

SHANK2 and SHANK3 Mutations Implicate Glutamate Signaling Abnormalities in Autism Spectrum Disorders

scholarly article published 2013

SHANK3 haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders ⬇️

artículo científico publicado el 11 de junio de 2013

SLITRK1 binds 14-3-3 and regulates neurite outgrowth in a phosphorylation-dependent manner

scientific journal article

SORL1 is genetically associated with late-onset Alzheimer's disease in Japanese, Koreans and Caucasians

artículo científico publicado en 2013

Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism

artículo científico publicado en 2013

Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets

artículo científico publicado en 2012

Schizophrenia risk from complex variation of complement component 4

artículo científico publicado en 2016

Sequence kernel association tests for the combined effect of rare and common variants

artículo científico publicado en 2013

Sequencing of the sea lamprey (Petromyzon marinus) genome provides insights into vertebrate evolution

artículo científico publicado en 2013

Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders

artículo científico publicado en 2022

Sex-specific genetic predictors of Alzheimer's disease biomarkers

artículo científico publicado en 2018

Shank3-deficient rats exhibit degraded cortical responses to sound

artículo científico publicado en 2017

Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap.

artículo científico publicado en 2018

Slc25a12 disruption alters myelination and neurofilaments: a model for a hypomyelination syndrome and childhood neurodevelopmental disorders

artículo científico publicado en 2009

Sodium channels SCN1A, SCN2A and SCN3A in familial autism

artículo científico publicado en 2003

Strong synaptic transmission impact by copy number variations in schizophrenia

artículo científico publicado en 2010

Subcellular localization of presenilin 2 endoproteolytic C-terminal fragments

artículo científico publicado en 2001

Symptom domains in autism and related conditions: evidence for familiality

artículo científico publicado en 2002

Synaptic Interactome Mining Reveals p140Cap as a New Hub for PSD Proteins Involved in Psychiatric and Neurological Disorders

artículo científico publicado en 2017

Synaptic, transcriptional and chromatin genes disrupted in autism

artículo científico publicado en 2014

TREM2 and neurodegenerative disease

Tau protein abnormalities associated with the progression of alzheimer disease type dementia

artículo científico publicado en 2005

Temporal proteomic profiling of postnatal human cortical development

article

Temporal proteomic profiling of postnatal human cortical development

artículo científico publicado en 2018

The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.

artículo científico publicado en 2013

The Alzheimer amyloid precursor protein (APP) and FE65, an APP-binding protein, regulate cell movement

artículo científico publicado en 2001

The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders ⬇️

artículo científico publicado el 20 de diciembre de 2012

The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses

artículo científico publicado en 2014

The Immersive Theater Experience for Individuals with Autism Spectrum Disorder

scientific article published on 01 March 2020

The Mount Sinai cohort of large-scale genomic, transcriptomic and proteomic data in Alzheimer's disease

artículo científico publicado en 2018

The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures

scientific article published on 19 July 2013

The amyloid precursor protein and its regulatory protein, FE65, in growth cones and synapses in vitro and in vivo

artículo científico publicado en 2003

The autism mental status exam: sensitivity and specificity using DSM-5 criteria for autism spectrum disorder in verbally fluent adults

artículo científico publicado en 2014

The carboxyl-terminus of BACE contains a sorting signal that regulates BACE trafficking but not the formation of total A(beta).

artículo científico publicado en 2002

The effect of an autism-associated polymorphism in the STK39 gene on the autism symptom domains

artículo científico publicado en 2012

The emerging neuroscience of autism spectrum disorders

artículo científico publicado en 2011

The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders

artículo científico publicado en 2009

The genetics of autism spectrum disorders.

artículo científico publicado en 2006

The human-specific CASP4 gene product contributes to Alzheimer-related synaptic and behavioural deficits

artículo científico publicado en 2016

The increasing prevalence of reported diagnoses of childhood psychiatric disorders: a descriptive multinational comparison

artículo científico publicado en 2014

The nature and metabolism of potentially amyloidogenic carboxyl-terminal fragments of the Alzheimer beta/A4-amyloid precursor protein: some technical notes

artículo científico publicado en 1992

Transcriptional profiling of C57 and DBA strains of mice in the absence and presence of morphine.

artículo científico publicado en 2007

Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism

scientific article published on 19 June 2020

Transcriptomic changes in the frontal cortex associated with paternal age.

artículo científico publicado en 2014

Transethnic genome-wide scan identifies novel Alzheimer's disease loci

artículo científico publicado en 2017

Treatment with controlled-release lovastatin decreases serum concentrations of human beta-amyloid (A beta) peptide

artículo científico publicado en 2001

Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis

artículo científico publicado en 2015

Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans

artículo científico publicado en 2016

Two rare AKAP9 variants are associated with Alzheimer's disease in African Americans

artículo científico publicado en 2014

Ultrastructural analyses in the hippocampus CA1 field in Shank3-deficient mice

artículo científico publicado en 2015

Understanding autism in the light of sex/gender

artículo científico publicado en 2015

Use of the Split-Ubiquitin Two-Hybrid System to Identify Proteins Interacting With the Alzheimer Proteins APP and LRP.

artículo científico publicado en 2004

Variable DNA methylation in neonates mediates the association between prenatal smoking and birth weight

Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans

artículo científico publicado en 2013

Volumetric Analysis of the Basal Ganglia and Cerebellar Structures in Patients with Phelan-McDermid Syndrome

artículo científico publicado en 2018

White matter changes in schizophrenia: evidence for myelin-related dysfunction

artículo científico publicado en 2003

Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA.

artículo científico publicado en 2013

Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex

scientific article published on 01 April 2020

Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa

artículo científico publicado en 2011

cGAS drives noncanonical-inflammasome activation in age-related macular degeneration.

artículo científico publicado en 2017

mTADA is a framework for identifying risk genes from de novo mutations in multiple traits

artículo científico publicado en 2020

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