Joseph Buxbaum
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American neuroscientist
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Biology
Joseph Buxbaum's Degrees
- Bachelors Psychology Columbia University
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Why Is Joseph Buxbaum Influential?
(Suggest an Edit or Addition)According to Wikipedia, Joseph D. Buxbaum is an American molecular and cellular neuroscientist, autism researcher, and the Director of the Seaver Autism Center at the Icahn School of Medicine at Mount Sinai. Buxbaum is also, along with Simon Baron-Cohen, the co-editor of the BioMed Central journal Molecular Autism, and is a member of the scientific advisory board of the Autism Science Foundation. Buxbaum is a Professor of Psychiatry, Neuroscience, and Genetics and Genomic Sciences. He is also the Vice Chair for Research and for Mentoring in the Department of Psychiatry at the Icahn School of Medicine at Mount Sinai.
Joseph Buxbaum's Published Works
Number of citations in a given year to any of this author's works
Total number of citations to an author for the works they published in a given year. This highlights publication of the most important work(s) by the author
Published Works
- Biological Insights From 108 Schizophrenia-Associated Genetic Loci (2014) (6445)
- Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer's disease (2013) (3484)
- Synaptic, transcriptional, and chromatin genes disrupted in autism (2014) (2080)
- Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs (2013) (2011)
- Functional impact of global rare copy number variation in autism spectrum disorders (2010) (1891)
- Common variants in MS4A4/MS4A6E, CD2uAP, CD33, and EPHA1 are associated with late-onset Alzheimer’s disease (2011) (1656)
- Patterns and rates of exonic de novo mutations in autism spectrum disorders (2012) (1645)
- Mapping autism risk loci using genetic linkage and chromosomal rearrangements (2007) (1382)
- Autism genome-wide copy number variation reveals ubiquitin and neuronal genes (2009) (1364)
- Correlation between elevated levels of amyloid beta-peptide in the brain and cognitive decline. (2000) (1308)
- Gene-Wide Analysis Detects Two New Susceptibility Genes for Alzheimer's Disease (2014) (1230)
- Genome-wide expression analysis reveals dysregulation of myelination-related genes in chronic schizophrenia (2001) (1197)
- Identification of common genetic risk variants for autism spectrum disorder (2019) (1140)
- A contribution of novel CNVs to schizophrenia from a genome-wide study of 41,321 subjects: CNV Analysis Group and the Schizophrenia Working Group of the Psychiatric Genomics Consortium (2016) (1125)
- Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci (2015) (1106)
- Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (1073)
- Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (2018) (1064)
- Most genetic risk for autism resides with common variation (2014) (995)
- Common genetic variants on 5p14.1 associate with autism spectrum disorders (2009) (970)
- Evidence That Tumor Necrosis Factor α Converting Enzyme Is Involved in Regulated α-Secretase Cleavage of the Alzheimer Amyloid Protein Precursor* (1998) (875)
- A framework for the interpretation of de novo mutation in human disease (2014) (869)
- Intraneuronal Aβ42 Accumulation in Human Brain (2000) (860)
- Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia (2016) (831)
- Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders (2014) (814)
- White matter changes in schizophrenia: evidence for myelin-related dysfunction. (2003) (778)
- Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects (2016) (736)
- Genomic Relationships, Novel Loci, and Pleiotropic Mechanisms across Eight Psychiatric Disorders (2019) (724)
- Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease (2017) (693)
- Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways (2015) (676)
- Sequencing of the sea lamprey (Petromyzon marinus) genome provides insights into vertebrate evolution (2013) (591)
- A genome-wide scan for common alleles affecting risk for autism (2010) (567)
- Cholinergic agonists and interleukin 1 regulate processing and secretion of the Alzheimer beta/A4 amyloid protein precursor. (1992) (562)
- Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes (2017) (517)
- Haploinsufficiency of the autism-associated Shank3 gene leads to deficits in synaptic function, social interaction, and social communication (2010) (507)
- Intraneuronal Abeta42 accumulation in human brain. (2000) (464)
- Mapping the human genetic architecture of COVID-19 (2021) (455)
- A SPECTRAL APPROACH INTEGRATING FUNCTIONAL GENOMIC ANNOTATIONS FOR CODING AND NONCODING VARIANTS (2015) (449)
- Processing of Alzheimer beta/A4 amyloid precursor protein: modulation by agents that regulate protein phosphorylation. (1990) (442)
- Evidence that tumor necrosis factor alpha converting enzyme is involved in regulated alpha-secretase cleavage of the Alzheimer amyloid protein precursor. (1998) (433)
- Meta-analysis confirms CR1, CLU, and PICALM as alzheimer disease risk loci and reveals interactions with APOE genotypes. (2010) (426)
- Estrogen reduces neuronal generation of Alzheimer β-amyloid peptides (1998) (411)
- Genome-Wide Analyses of Exonic Copy Number Variants in a Family-Based Study Point to Novel Autism Susceptibility Genes (2009) (400)
- Altered ultrasonic vocalization in mice with a disruption in the Foxp2 gene. (2005) (400)
- Sequence kernel association tests for the combined effect of rare and common variants. (2013) (399)
- A replication of the Autism Diagnostic Observation Schedule (ADOS) revised algorithms. (2008) (384)
- Neuregulin 1-erbB signaling and the molecular/cellular basis of schizophrenia (2004) (378)
- Mapping genomic loci implicates genes and synaptic biology in schizophrenia (2022) (361)
- Individual common variants exert weak effects on the risk for autism spectrum disorders (2012) (346)
- Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans. (2013) (345)
- Protein phosphorylation regulates secretion of Alzheimer beta/A4 amyloid precursor protein. (1992) (343)
- Calsenilin: A calcium-binding protein that interacts with the presenilins and regulates the levels of a presenilin fragment (1998) (341)
- Evidence for a susceptibility gene for autism on chromosome 2 and for genetic heterogeneity. (2001) (340)
- Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder (2011) (337)
- Association between a GABRB3 polymorphism and autism (2002) (325)
- Enhanced Striatal Dopamine Transmission and Motor Performance with LRRK2 Overexpression in Mice Is Eliminated by Familial Parkinson's Disease Mutation G2019S (2010) (325)
- PGC-1alpha expression decreases in the Alzheimer disease brain as a function of dementia. (2009) (321)
- Common genetic variants in the CLDN2 and PRSS1-PRSS2 loci alter risk for alcohol-related and sporadic pancreatitis (2012) (308)
- Reduced Excitatory Neurotransmission and Mild Autism-Relevant Phenotypes in Adolescent Shank3 Null Mutant Mice (2012) (305)
- Tumor Necrosis Factor-α-converting Enzyme Is Required for Cleavage of erbB4/HER4* (2000) (301)
- Meta-analysis of GWAS of over 16,000 individuals with autism spectrum disorder highlights a novel locus at 10q24.32 and a significant overlap with schizophrenia (2017) (301)
- Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples (2016) (296)
- Protein phosphorylation inhibits production of Alzheimer amyloid beta/A4 peptide. (1993) (295)
- Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias (2014) (295)
- Aβ localization in abnormal endosomes: association with earliest Aβ elevations in AD and Down syndrome (2004) (285)
- The Sac1 Domain of SYNJ1 Identified Mutated in a Family with Early‐Onset Progressive Parkinsonism with Generalized Seizures (2013) (285)
- Epigenetic Biomarkers as Predictors and Correlates of Symptom Improvement Following Psychotherapy in Combat Veterans with PTSD (2013) (282)
- Gene Expression Patterns Associated with Posttraumatic Stress Disorder Following Exposure to the World Trade Center Attacks (2009) (280)
- The emerging role of synaptic cell-adhesion pathways in the pathogenesis of autism spectrum disorders (2009) (275)
- Common variants at MS 4 A 4 / MS 4 A 6 E , CD 2 AP , CD 33 and EPHA 1 are associated with late-onset Alzheimer ’ s disease (2011) (274)
- A diffuse infiltrative CD8 lymphocytosis syndrome in human immunodeficiency virus (HIV) infection: a host immune response associated with HLA-DR5. (1990) (274)
- Alzheimer Amyloid Protein Precursor in the Rat Hippocampus: Transport and Processing through the Perforant Path (1998) (272)
- Sodium channels SCN1A, SCN2A and SCN3A in familial autism (2003) (271)
- Association of Genetic and Environmental Factors With Autism in a 5-Country Cohort. (2019) (267)
- Autism spectrum disorder: neuropathology and animal models (2017) (259)
- The Alzheimer Amyloid Precursor Protein (APP) and Fe65, an APP-Binding Protein, Regulate Cell Movement (2001) (258)
- Prospective investigation of autism and genotype-phenotype correlations in 22q13 deletion syndrome and SHANK3 deficiency (2013) (251)
- Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders (2013) (248)
- A NOVEL ALZHEIMER DISEASE LOCUS LOCATED NEAR THE GENE ENCODING TAU PROTEIN (2015) (246)
- Mutation screening of the PTEN gene in patients with autism spectrum disorders and macrocephaly (2007) (245)
- Linking oligodendrocyte and myelin dysfunction to neurocircuitry abnormalities in schizophrenia (2011) (245)
- The Mount Sinai cohort of large-scale genomic, transcriptomic and proteomic data in Alzheimer's disease (2018) (242)
- HDAC2 regulates atypical antipsychotic responses through the modulation of mGlu2 promoter activity (2012) (241)
- Regulation of β-Amyloid Secretion by FE65, an Amyloid Protein Precursor-binding Protein* (1999) (240)
- Integrated Model of De Novo and Inherited Genetic Variants Yields Greater Power to Identify Risk Genes (2013) (238)
- Autism-like Deficits in Shank3-Deficient Mice Are Rescued by Targeting Actin Regulators. (2015) (224)
- The increasing prevalence of reported diagnoses of childhood psychiatric disorders: a descriptive multinational comparison (2015) (222)
- Strong synaptic transmission impact by copy number variations in schizophrenia (2010) (213)
- Joint Analysis of Psychiatric Disorders Increases Accuracy of Risk Prediction for Schizophrenia, Bipolar Disorder, and Major Depressive Disorder (2015) (206)
- Nicotinic receptor subtypes in human brain ageing, Alzheimer and Lewy body diseases. (2000) (204)
- Integrative network analysis of nineteen brain regions identifies molecular signatures and networks underlying selective regional vulnerability to Alzheimer’s disease (2016) (204)
- Chloroquine inhibits intracellular degradation but not secretion of Alzheimer beta/A4 amyloid precursor protein. (1992) (197)
- Calcium regulates processing of the Alzheimer amyloid protein precursor in a protein kinase C-independent manner. (1994) (196)
- Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder (2018) (196)
- The Amyloid Precursor Protein and Its Regulatory Protein, FE65, in Growth Cones and Synapses In Vitro and In Vivo (2003) (196)
- Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study (2019) (194)
- An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder (2018) (194)
- Neuronal cyclooxygenase 2 expression in the hippocampal formation as a function of the clinical progression of Alzheimer disease. (2001) (191)
- Rates, Distribution, and Implications of Post-zygotic Mosaic Mutations in Autism Spectrum Disorder (2017) (187)
- Linkage and association of the mitochondrial aspartate/glutamate carrier SLC25A12 gene with autism. (2004) (187)
- Molecular and Cellular Evidence for an Oligodendrocyte Abnormality in Schizophrenia (2002) (187)
- Putative biological mechanisms for the association between early life adversity and the subsequent development of PTSD (2010) (187)
- A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder (2011) (186)
- Abeta localization in abnormal endosomes: association with earliest Abeta elevations in AD and Down syndrome. (2004) (184)
- Estrogen reduces neuronal generation of Alzheimer beta-amyloid peptides. (1998) (179)
- Convergent genetic and expression data implicate immunity in Alzheimer's disease (2014) (172)
- The Autism Sequencing Consortium: Large-Scale, High-Throughput Sequencing in Autism Spectrum Disorders (2012) (171)
- Rare structural variation of synapse and neurotransmission genes in autism (2011) (166)
- Genetics and genomics of autism spectrum disorder: embracing complexity. (2015) (166)
- Whole-exome sequencing links a variant in DHDDS to retinitis pigmentosa. (2011) (163)
- A New Testing Strategy to Identify Rare Variants with Either Risk or Protective Effect on Disease (2011) (155)
- Characterization of New Polyclonal Antibodies Specific for 40 and 42 Amino Acid-Long Amyloid β Peptides: Their Use to Examine the Cell Biology of Presenilins and the Immunohistochemistry of Sporadic Alzheimer’s Disease and Cerebral Amyloid Angiopathy Cases (1997) (151)
- Insulin-like growth factor-1 rescues synaptic and motor deficits in a mouse model of autism and developmental delay (2013) (150)
- Transethnic genome-wide scan identifies novel Alzheimer's disease loci (2017) (149)
- Dementia Revealed: Novel Chromosome 6 Locus for Late-Onset Alzheimer Disease Provides Genetic Evidence for Folate-Pathway Abnormalities (2010) (148)
- Interaction of the Phosphotyrosine Interaction/Phosphotyrosine Binding-related Domains of Fe65 with Wild-type and Mutant Alzheimer's β-Amyloid Precursor Proteins* (1997) (147)
- Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder. (2013) (147)
- Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls (2013) (143)
- SHANK3 haploinsufficiency: a “common” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders (2013) (142)
- Symptom domains in autism and related conditions: evidence for familiality. (2002) (141)
- Effects of multiple genetic loci on age at onset in late-onset Alzheimer disease: a genome-wide association study. (2014) (140)
- A critical role for the protein tyrosine phosphatase receptor type Z in functional recovery from demyelinating lesions (2002) (139)
- Tumor necrosis factor-alpha-converting enzyme is required for cleavage of erbB4/HER4. (2000) (136)
- cGAS drives non-canonical inflammasome activation in age-related macular degeneration (2017) (136)
- 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 (2004) (135)
- Genetic Markers for PTSD Risk and Resilience Among Survivors of the World Trade Center Attacks (2011) (134)
- 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 (2009) (133)
- Multiple rare variants in the etiology of autism spectrum disorders (2009) (129)
- Calcium-regulated DNA Binding and Oligomerization of the Neuronal Calcium-sensing Protein, Calsenilin/DREAM/KChIP3* (2001) (129)
- CommonMind Consortium provides transcriptomic and epigenomic data for Schizophrenia and Bipolar Disorder (2019) (126)
- DAWN: a framework to identify autism genes and subnetworks using gene expression and genetics (2014) (125)
- Convergent evidence that oligodendrocyte lineage transcription factor 2 (OLIG2) and interacting genes influence susceptibility to schizophrenia (2006) (125)
- The Carboxyl-Terminus of BACE Contains a Sorting Signal That Regulates BACE Trafficking but Not the Formation of Total Aβ (2002) (123)
- Generation and Regulation of β‐Amyloid Peptide Variants by Neurons (1998) (122)
- Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring (2014) (119)
- Linkage disequilibrium between an allele at the dopamine D4 receptor locus and Tourette syndrome, by the transmission-disequilibrium test. (1996) (118)
- Convergent evidence for 2',3'-cyclic nucleotide 3'-phosphodiesterase as a possible susceptibility gene for schizophrenia. (2006) (117)
- Regulatory consequences of neuronal ELAV-like protein binding to coding and non-coding RNAs in human brain (2016) (116)
- Insulin degrading enzyme activity selectively decreases in the hippocampal formation of cases at high risk to develop Alzheimer's disease (2007) (116)
- A common X-linked inborn error of carnitine biosynthesis may be a risk factor for nondysmorphic autism (2012) (114)
- Delineation of the genetic and clinical spectrum of Phelan-McDermid syndrome caused by SHANK3 point mutations (2018) (112)
- A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome (2014) (111)
- Haploinsufficiency of Gtf2i, a gene deleted in Williams Syndrome, leads to increases in social interactions (2011) (109)
- Regulation of Secretion of Alzheimer Amyloid Precursor Protein by the Mitogen‐Activated Protein Kinase Cascade (1998) (108)
- Genetic correlation between amyotrophic lateral sclerosis and schizophrenia (2017) (107)
- Common risk variants identified in autism spectrum disorder (2017) (106)
- BACE (β-secretase) modulates the processing of APLP2 in vivo (2004) (106)
- Understanding autism in the light of sex/gender (2015) (106)
- 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 (1998) (106)
- Altered Aβ Formation and Long-Term Potentiation in a Calsenilin Knock-Out (2003) (105)
- Oxytocin improves behavioral and electrophysiological deficits in a novel Shank3-deficient rat (2017) (104)
- Mosaic Epigenetic Dysregulation of Ectodermal Cells in Autism Spectrum Disorder (2014) (103)
- Latrepirdine improves cognition and arrests progression of neuropathology in an Alzheimer's mouse model (2013) (103)
- Treatment with controlled-release lovastatin decreases serum concentrations of human beta-amyloid (A beta) peptide. (2001) (103)
- In vivo 1H-magnetic resonance spectroscopy study of the attentional networks in autism (2011) (102)
- Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS (2018) (100)
- A genome-wide study reveals copy number variants exclusive to childhood obesity cases. (2010) (100)
- Pharmacological concentrations of the HMG-CoA reductase inhibitor lovastatin decrease the formation of the Alzheimer beta-amyloid peptide in vitro and in patients. (2002) (99)
- Expression profiling associates blood and brain glucocorticoid receptor signaling with trauma-related individual differences in both sexes (2014) (98)
- No Obvious Abnormality in Mice Deficient in Receptor Protein Tyrosine Phosphatase β (2000) (98)
- Calsenilin reverses presenilin-mediated enhancement of calcium signaling. (2000) (94)
- 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 (2008) (93)
- A Critical Role for Human Caspase-4 in Endotoxin Sensitivity (2014) (93)
- Correlation Between Aβx-40–, Aβx-42–, and Aβx-43–Containing Amyloid Plaques and Cognitive Decline (2001) (92)
- Complement genes contribute sex-biased vulnerability in diverse illnesses (2020) (92)
- Haploinsufficiency of Cyfip1 Produces Fragile X-Like Phenotypes in Mice (2012) (92)
- Two rare AKAP9 variants are associated with Alzheimer's disease in African Americans (2014) (92)
- Canonical Inflammasomes Drive IFN-γ to Prime Caspase-11 in Defense against a Cytosol-Invasive Bacterium. (2015) (89)
- SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects (2008) (89)
- Novel Alzheimer Disease Risk Loci and Pathways in African American Individuals Using the African Genome Resources Panel: A Meta-analysis. (2020) (86)
- Recessive gene disruptions in autism spectrum disorder (2019) (85)
- Calsenilin Enhances Apoptosis by Altering Endoplasmic Reticulum Calcium Signaling (2002) (84)
- Advancing Paternal Age Is Associated with Deficits in Social and Exploratory Behaviors in the Offspring: A Mouse Model (2009) (84)
- Alzheimer Amyloid Protein Precursor Is Localized in Nerve Terminal Preparations to Rab5-containing Vesicular Organelles Distinct from Those Implicated in the Synaptic Vesicle Pathway* (1996) (83)
- Family-based association tests for sequence data, and comparisons with population-based association tests (2013) (83)
- Cholesterol depletion with physiological concentrations of a statin decreases the formation of the Alzheimer amyloid Abeta peptide. (2001) (83)
- Atorvastatin‐induced activation of Alzheimer's α secretase is resistant to standard inhibitors of protein phosphorylation‐regulated ectodomain shedding (2004) (82)
- Elevated polygenic burden for autism is associated with differential DNA methylation at birth (2017) (81)
- Molecular dissection of NRG1-ERBB4 signaling implicates PTPRZ1 as a potential schizophrenia susceptibility gene (2008) (81)
- Tau protein abnormalities associated with the progression of alzheimer disease type dementia (2007) (81)
- Scan statistic-based analysis of exome sequencing data identifies FAN1 at 15q13.3 as a susceptibility gene for schizophrenia and autism (2013) (78)
- PTSD Blood Transcriptome Mega-Analysis: Shared Inflammatory Pathways across Biological Sex and Modes of Trauma (2018) (78)
- A high proportion of polymorphisms in the promoters of brain expressed genes influences transcriptional activity. (2004) (78)
- New translational perspectives for blood-based biomarkers of PTSD: From glucocorticoid to immune mediators of stress susceptibility (2016) (78)
- Lysosomal Dysfunction in a Mouse Model of Sandhoff Disease Leads to Accumulation of Ganglioside-Bound Amyloid-β Peptide (2012) (77)
- De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis (2018) (74)
- Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders (2017) (73)
- Linking White and Grey Matter in Schizophrenia: Oligodendrocyte and Neuron Pathology in the Prefrontal Cortex (2009) (72)
- Calsenilin Is a Substrate for Caspase-3 That Preferentially Interacts with the Familial Alzheimer's Disease-associated C-terminal Fragment of Presenilin 2* (2001) (70)
- Molecular Autism: accelerating and integrating research into neurodevelopmental conditions (2010) (70)
- Identification of rare de novo epigenetic variations in congenital disorders (2018) (68)
- Expression of APP in brains of transgenic mice containing the entire human APP gene. (1993) (68)
- Two novel loci, COBL and SLC10A2, for Alzheimer's disease in African Americans (2017) (67)
- Familial clustering of tic disorders and obsessive-compulsive disorder. (2015) (66)
- Amyloid beta protein-induced zinc sequestration leads to synaptic loss via dysregulation of the ProSAP2/Shank3 scaffold (2011) (66)
- Whole-Genome and RNA Sequencing Reveal Variation and Transcriptomic Coordination in the Developing Human Prefrontal Cortex (2019) (66)
- FUN-LDA: A LATENT DIRICHLET ALLOCATION MODEL FOR PREDICTING TISSUE-SPECIFIC FUNCTIONAL EFFECTS OF NONCODING VARIATION (2017) (65)
- Correction: Differential transcriptional response following glucocorticoid activation in cultured blood immune cells: a novel approach to PTSD biomarker development (2020) (64)
- BACE (beta-secretase) modulates the processing of APLP2 in vivo. (2004) (63)
- Recent Advances in the Genetics of Autism Spectrum Disorder (2015) (63)
- Behavioral Phenotyping of an Improved Mouse Model of Phelan–McDermid Syndrome with a Complete Deletion of the Shank3 Gene (2018) (63)
- 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 (2012) (61)
- Altered tactile processing in children with autism spectrum disorder (2016) (61)
- A Comparison of Ten Polygenic Score Methods for Psychiatric Disorders Applied Across Multiple Cohorts (2020) (60)
- Autism‐related routines and rituals associated with a mitochondrial aspartate/glutamate carrier SLC25A12 polymorphism (2008) (60)
- Association analysis of the NrCAM gene in autism and in subsets of families with severe obsessive–compulsive or self-stimulatory behaviors (2006) (59)
- Two knockdown models of the autism genes SYNGAP1 and SHANK3 in zebrafish produce similar behavioral phenotypes associated with embryonic disruptions of brain morphogenesis. (2015) (59)
- Lack of Evidence for Association of the Serotonin Transporter Gene SLC6A4 with Autism (2006) (59)
- Developmental social communication deficits in the Shank3 rat model of phelan‐mcdermid syndrome and autism spectrum disorder (2018) (59)
- Novel neuritic clusters with accumulations of amyloid precursor protein and amyloid precursor-like protein 2 immunoreactivity in brain regions damaged by thiamine deficiency. (1996) (59)
- Familial symptom domains in monozygotic siblings with autism (2004) (58)
- Phenotypic and functional analysis of SHANK3 stop mutations identified in individuals with ASD and/or ID (2015) (58)
- De novo SCN2A splice site mutation in a boy with Autism spectrum disorder (2014) (57)
- Extensive proteomic screening identifies the obesity-related NYGGF4 protein as a novel LRP1-interactor, showing reduced expression in early Alzheimer's disease (2010) (57)
- SLITRK1 Binds 14-3-3 and Regulates Neurite Outgrowth in a Phosphorylation-Dependent Manner (2009) (57)
- Examining the Efficacy of a Family Peer Advocate Model for Black and Hispanic Caregivers of Children with Autism Spectrum Disorder (2017) (57)
- Scan-statistic approach identifies clusters of rare disease variants in LRP2, a gene linked and associated with autism spectrum disorders, in three datasets. (2012) (56)
- Network Topologies and Convergent Aetiologies Arising from Deletions and Duplications Observed in Individuals with Autism (2013) (56)
- A framework for an evidence-based gene list relevant to autism spectrum disorder (2020) (56)
- Measuring Sensory Reactivity in Autism Spectrum Disorder: Application and Simplification of a Clinician-Administered Sensory Observation Scale (2016) (56)
- Shared genetic contribution to ischemic stroke and Alzheimer's disease (2016) (55)
- Highly conserved molecular pathways, including Wnt signaling, promote functional recovery from spinal cord injury in lampreys (2018) (55)
- Novel genes for autism implicate both excitatory and inhibitory cell lineages in risk (2018) (55)
- The impact of the metabotropic glutamate receptor and other gene family interaction networks on autism (2014) (54)
- PLXNA4 is associated with Alzheimer disease and modulates tau phosphorylation (2014) (54)
- An analysis of candidate autism loci on chromosome 2q24–q33: Evidence for association to the STK39 gene (2008) (53)
- Identification of Rare Causal Variants in Sequence-Based Studies: Methods and Applications to VPS13B, a Gene Involved in Cohen Syndrome and Autism (2014) (51)
- APOE genotype results in differential effects on the peripheral clearance of amyloid-beta42 in APOE knock-in and knock-out mice. (2010) (51)
- AnnTools: a comprehensive and versatile annotation toolkit for genomic variants (2012) (51)
- Disease susceptibility genes for autism (2003) (51)
- Allelic expression of APOE in human brain: effects of epsilon status and promoter haplotypes. (2004) (51)
- Pepsin pretreatment allows collagen IV immunostaining of blood vessels in adult mouse brain (2007) (50)
- Finding disease variants in Mendelian disorders by using sequence data: methods and applications. (2011) (50)
- Increased Secretion of the Amino‐Terminal Fragment of Amyloid Precursor Protein in Brains of Rats with a Constitutive Up‐Regulation of Protein Kinase C (1997) (50)
- Slc25a12 Disruption Alters Myelination and Neurofilaments: A Model for a Hypomyelination Syndrome and Childhood Neurodevelopmental Disorders (2010) (50)
- Rare coding variation provides insight into the genetic architecture and phenotypic context of autism (2022) (49)
- Randomized comparative trial of a social cognitive skills group for children with autism spectrum disorder. (2015) (49)
- Association of endogenous viral loci with genes encoding murine histocompatibility and lymphocyte differentiation antigens. (1983) (49)
- Generation and regulation of beta-amyloid peptide variants by neurons. (1998) (48)
- Absence of strong strain effects in behavioral analyses of Shank3-deficient mice (2014) (48)
- A clinician‐administered observation and corresponding caregiver interview capturing DSM‐5 sensory reactivity symptoms in children with ASD (2017) (48)
- Presence of BACE1 and BACE2 in muscle fibres of patients with sporadic inclusion-body myositis (2001) (48)
- PARK10 is a major locus for sporadic neuropathologically confirmed Parkinson disease (2015) (48)
- Brief Report: The Autism Mental Status Examination: Development of a Brief Autism-Focused Exam (2012) (47)
- Dietary composition modulates brain mass and solubilizable Aβ levels in a mouse model of aggressive Alzheimer's amyloid pathology (2009) (47)
- Amyloid beta peptide formation in cell-free preparations. Regulation by protein kinase C, calmodulin, and calcineurin. (1996) (47)
- Global landscape and genetic regulation of RNA editing in cortical samples from individuals with schizophrenia (2019) (47)
- Neuropathology of the Anterior Midcingulate Cortex in Young Children With Autism (2014) (46)
- Prospective investigation of FOXP1 syndrome (2017) (46)
- The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism (2013) (45)
- A large-scale survey of the novel 15q24 microdeletion syndrome in autism spectrum disorders identifies an atypical deletion that narrows the critical region (2010) (45)
- Evidence for Genetic Overlap Between Schizophrenia and Age at First Birth in Women. (2016) (45)
- Cyfip1 Regulates Presynaptic Activity during Development (2016) (45)
- Receptor Protein Tyrosine Phosphatase γ Is a Marker for Pyramidal Cells and Sensory Neurons in the Nervous System and Is Not Necessary for Normal Development (2006) (45)
- Formamidines interact withDrosophila octopamine receptors, alter the flies' behavior and reduce their learning ability (1987) (44)
- Age-at-Onset in Late Onset Alzheimer Disease is Modified by Multiple Genetic Loci (2014) (44)
- The neuroscience of autism spectrum disorders (2013) (42)
- Characterization of SLITRK1 Variation in Obsessive-Compulsive Disorder (2013) (42)
- GJA1 (connexin43) is a key regulator of Alzheimer’s disease pathogenesis (2018) (42)
- A role for calsenilin and related proteins in multiple aspects of neuronal function. (2004) (42)
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- Neuropsychiatric decompensation in adolescents and adults with Phelan-McDermid syndrome: a systematic review of the literature (2019) (40)
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- APP processing, Aβ-amyloidogenesis, and the pathogenesis of Alzheimer's disease (1994) (40)
- FE65 Binds Teashirt, Inhibiting Expression of the Primate-Specific Caspase-4 (2009) (40)
- BACE1 and BACE2 in pathologic and normal human muscle (2003) (39)
- A macromolecular complex involving the amyloid precursor protein (APP) and the cytosolic adapter FE65 is a negative regulator of axon branching (2007) (39)
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- Novel cerebrovascular pathology in mice fed a high cholesterol diet (2009) (38)
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- Heritable Variation, With Little or No Maternal Effect, Accounts for Recurrence Risk to Autism Spectrum Disorder in Sweden (2017) (35)
- Advanced paternal age is associated with altered DNA methylation at brain-expressed imprinted loci in inbred mice: implications for neuropsychiatric disease (2013) (35)
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- Intracellular calcium modulates the nuclear translocation of calsenilin (2004) (33)
- Global and local ancestry in African-Americans: Implications for Alzheimer's disease risk (2016) (33)
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- Variable DNA methylation in neonates mediates the association between prenatal smoking and birth weight (2019) (33)
- The Autism Simplex Collection: an international, expertly phenotyped autism sample for genetic and phenotypic analyses (2014) (33)
- Protein Phosphorylation Regulates Relative Utilization of Processing Pathways for Alzheimer β/A4 Amyloid Precursor Protein a (1993) (32)
- Evidence against a role for rare ADAM10 mutations in sporadic Alzheimer Disease (2012) (32)
- Network‐ and attribute‐based classifiers can prioritize genes and pathways for autism spectrum disorders and intellectual disability (2012) (32)
- Advancing paternal age and simplex autism (2012) (31)
- The genetics of autism spectrum disorders (2007) (31)
- Phelan McDermid Syndrome (2015) (31)
- SYNTHESIS AND ASSEMBLY OF IMMUNOGLOBULINS BY MALIGNANT HUMAN PLASMACYTES AND LYMPHOCYTES II. HETEROGENEITY OF ASSEMBLY IN CELLS PRODUCING IGM PROTEINS (1971) (31)
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- Association of TREM2 variants with Alzheimer's disease in African-Americans: For the Alzheimer's Disease Genetics Consortium (ADGC) (2013) (31)
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- DSM-5: the debate continues (2013) (28)
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- Characterization of KIAA0513, a novel signaling molecule that interacts with modulators of neuroplasticity, apoptosis, and the cytoskeleton (2006) (28)
- Regeneration in the Era of Functional Genomics and Gene Network Analysis (2011) (28)
- Maturation of cortical circuits requires Semaphorin 7A (2014) (28)
- A large‐scale screen for coding variants in SERT/SLC6A4 in autism spectrum disorders (2008) (27)
- Ultrastructural analyses in the hippocampus CA1 field in Shank3-deficient mice (2015) (27)
- A first update on mapping the human genetic architecture of COVID-19 (2022) (27)
- A genome-wide scan statistic framework for whole-genome sequence data analysis (2019) (26)
- Author Correction: Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (26)
- Calsenilin regulates presenilin 1/γ‐secretase‐mediated N‐cadherin ∊‐cleavage and β‐catenin signaling (2011) (26)
- Complement genes contribute sex-biased vulnerability in diverse disorders (2020) (25)
- Multiplexed variation scanning for 1,000 amplicons in hundreds of patients using mismatch repair detection (MRD) on tag arrays. (2005) (25)
- Exome sequencing identifies GCDH (glutaryl-CoA dehydrogenase) mutations as a cause of a progressive form of early-onset generalized dystonia (2012) (25)
- Loss of Function Studies in Mice and Genetic Association Link Receptor Protein Tyrosine Phosphatase α to Schizophrenia (2011) (25)
- Transcriptional signatures of participant-derived neural progenitor cells and neurons implicate altered Wnt signaling in Phelan-McDermid syndrome and autism (2019) (25)
- Expression of calsenilin in neurons and astrocytes in the Alzheimer's disease brain (2005) (25)
- Rare coding variation illuminates the allelic architecture, risk genes, cellular expression patterns, and phenotypic context of autism (2021) (24)
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- Linkage and Association of the Mitochondrial Aspartate / Glutamate Carrier SLC 25 A 12 Gene With Autism (2004) (24)
- Genetics in psychiatry: common variant association studies (2010) (23)
- Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome (2013) (23)
- Differential transcriptional response following glucocorticoid activation in cultured blood immune cells: a novel approach to PTSD biomarker development (2019) (22)
- Shank3‐deficient rats exhibit degraded cortical responses to sound (2018) (22)
- Regulation of APP Processing by Intra‐ and Intercellular Signals a (1996) (22)
- Autism and ultraconserved non-coding sequence on chromosome 7q (2006) (22)
- Gene expression in cord blood links genetic risk for neurodevelopmental disorders with maternal psychological distress and adverse childhood outcomes (2017) (22)
- PCDH11X variation is not associated with late-onset Alzheimer disease susceptibility (2010) (21)
- Lack of Association between the Levels of the Low‐Density Lipoprotein Receptor‐Related Protein (LRP) and Either Alzheimer Dementia or LRP Exon 3 Genotype (2003) (21)
- Sex-Dependent Shared and Nonshared Genetic Architecture Across Mood and Psychotic Disorders (2021) (21)
- Episignatures Stratifying Helsmoortel-Van Der Aa Syndrome Show Modest Correlation with Phenotype. (2020) (20)
- Synaptic Interactome Mining Reveals p140Cap as a New Hub for PSD Proteins Involved in Psychiatric and Neurological Disorders (2017) (20)
- Calsenilin interacts with transcriptional co‐repressor C‐terminal binding protein(s) (2006) (20)
- Phosphorylation of calsenilin at Ser63 regulates its cleavage by caspase-3 (2003) (20)
- Grandma knows best: Family structure and age of diagnosis of autism spectrum disorder (2018) (20)
- Parental Age and Differential Estimates of Risk for Neuropsychiatric Disorders: Findings From the Danish Birth Cohort. (2019) (19)
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- Deletion of the KH1 Domain of Fmr1 Leads to Transcriptional Alterations and Attentional Deficits in Rats (2019) (19)
- Introduction of the human AVPR1A gene substantially alters brain receptor expression patterns and enhances aspects of social behavior in transgenic mice (2014) (19)
- Strong evidence for genotype–phenotype correlations in Phelan-McDermid syndrome: results from the developmental synaptopathies consortium (2021) (18)
- Neuropathology of the posteroinferior occipitotemporal gyrus in children with autism (2014) (18)
- Intellectual Disability Syndromes (2013) (18)
- The human-specific CASP4 gene product contributes to Alzheimer-related synaptic and behavioural deficits. (2016) (17)
- Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome (2016) (17)
- Genetic risk for schizophrenia and autism, social impairment and developmental pathways to psychosis (2018) (16)
- Fine mapping of the 5p13 locus linked to schizophrenia and schizotypal personality disorder in a Puerto Rican family (2005) (16)
- Limited contribution of rare, noncoding variation to autism spectrum disorder from sequencing of 2,076 genomes in quartet families (2017) (16)
- Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative (2022) (15)
- Copy Number Variations in Alternative Splicing Gene Networks Impact Lifespan (2013) (15)
- Tourette Syndrome and Tic Disorders (2013) (15)
- Complex autism spectrum disorder in a patient with a 17q12 microduplication (2012) (15)
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- The emerging neuroscience of autism spectrum disorders (2011) (15)
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- Downstream regulatory element antagonistic modulator regulates islet prodynorphin expression. (2006) (14)
- A Simplified Diagnostic Observational Assessment of Autism Spectrum Disorder in Early Childhood (2016) (14)
- How rare and common risk variation jointly affect liability for autism spectrum disorder (2020) (14)
- Temporal proteomic profiling of postnatal human cortical development (2018) (14)
- Maternal Effects as Causes of Risk for Obsessive-Compulsive Disorder (2020) (13)
- SHANK 3 haploinsufficiency : a ” common ” but underdiagnosed highly penetrant monogenic cause of autism spectrum disorders (2018) (13)
- APP processing, A beta-amyloidogenesis, and the pathogenesis of Alzheimer's disease. (1994) (13)
- Did Hans Asperger actively assist the Nazi euthanasia program? (2018) (13)
- Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder (2017) (13)
- Whole exome sequencing reveals minimal differences between cell line and whole blood derived DNA. (2013) (12)
- Characterization of Alternative Routes for Processing of the Alzheimer β/A4‐Amyloid Precursor Protein (1992) (12)
- Sensory Reactivity Phenotype in Phelan–McDermid Syndrome Is Distinct from Idiopathic ASD (2021) (12)
- Peripheral myelin protein-22 is expressed in CNS myelin (2010) (11)
- Altered synaptic ultrastructure in the prefrontal cortex of Shank3-deficient rats (2020) (11)
- Prevalence and phenotypic impact of rare potentially damaging variants in autism spectrum disorder (2021) (11)
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- Prospective and detailed behavioral phenotyping in DDX3X syndrome (2021) (11)
- New mutations, old statistical challenges (2017) (10)
- Cohort profile: Epidemiology and Genetics of Obsessive–compulsive disorder and chronic tic disorders in Sweden (EGOS) (2020) (10)
- Developmental and Behavioral Phenotypes in a Mouse Model of DDX3X Syndrome (2021) (10)
- mTADA is a framework for identifying risk genes from de novo mutations in multiple traits (2020) (10)
- Systematic review and meta-analysis: relationships between attention-deficit/hyperactivity disorder and urinary symptoms in children (2020) (9)
- Clinical signs associated with earlier diagnosis of children with autism Spectrum disorder (2020) (9)
- Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples (2017) (9)
- DSM-5 and Psychiatric Genetics — Round Hole, Meet Square Peg (2015) (9)
- Sex-Dependent Shared and Non-Shared Genetic Architecture Across Mood and Psychotic Disorders (2020) (8)
- Not All Autism Genes Are Created Equal: A Response to Myers et al. (2020) (8)
- Sensory Reactivity Symptoms Are a Core Feature of ADNP Syndrome Irrespective of Autism Diagnosis (2021) (8)
- Defective cAMP metabolism and defective memory in Drosophila. (1986) (8)
- Reduced brain volume and white matter alterations in Shank3‐deficient rats (2020) (7)
- Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms (2021) (7)
- A randomized controlled trial of intranasal oxytocin in Phelan-McDermid syndrome (2021) (7)
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- Correlation Between A x40 – , A x-42 – , and A x-43 – Containing Amyloid Plaques and Cognitive Decline (2002) (7)
- Shifted phase of EEG cross-frequency coupling in individuals with Phelan-McDermid syndrome (2020) (7)
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- Calsenilin is degraded by the ubiquitin-proteasome pathway. (2011) (6)
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- Human induced pluripotent stem cells: a new model for schizophrenia? (2011) (6)
- In vivo protein phosphorylation in Drosophila mutants defective in learning and memory (1989) (6)
- Systematic review and meta‐analysis identify significant relationships between clinical anxiety and lower urinary tract symptoms (2021) (6)
- Maternal health around pregnancy and autism risk: a diagnosis-wide, population-based study (2021) (5)
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- Identification of shared and differentiating genetic architecture for autism spectrum disorder, attention-deficit hyperactivity disorder and case subgroups (2022) (5)
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- CAPRIN1 haploinsufficiency causes a neurodevelopmental disorder with language impairment, ADHD and ASD. (2022) (5)
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- Lipid A Variants Activate Human TLR4 and the Noncanonical Inflammasome Differently and Require the Core Oligosaccharide for Inflammasome Activation (2022) (4)
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- Calsenilin, a Presenilin Interactor, Regulates RhoA Signaling and Neurite Outgrowth (2018) (4)
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- CNVs analysis in a cohort of isolated and syndromic DD / ID reveals novel genomic disorders , position effects and candidate disease genes (3)
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- Phenotypic Impact of Rare Potentially Damaging Copy Number Variation in Obsessive-Compulsive Disorder and Chronic Tic Disorders (2022) (2)
- Exome sequencing analysis of Japanese autism spectrum disorder case-control sample supports an increased burden of synaptic function-related genes (2022) (2)
- Neural Markers of Auditory Response and Habituation in Phelan-McDermid Syndrome (2022) (2)
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- KCNK18 Biallelic Variants Associated with Intellectual Disability and Neurodevelopmental Disorders Alter TRESK Channel Activity (2021) (2)
- Erratum: A pilot controlled trial of insulin-like growth factor-1 in children with Phelan-McDermid syndrome (2015) (2)
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- Integrative analysis of rare variants and pathway information shows convergent results between immune pathways, drug targets and epilepsy genes (2018) (2)
- Gene expression imputation across multiple brain regions provides insights into schizophrenia risk (2019) (2)
- Reduced axonal caliber and structural changes in a rat model of Fragile X syndrome with a deletion of a K-Homology domain of Fmr1 (2020) (2)
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- Profiling Brain and Plasma Lipids in Human APOE ε2 ,ε3 ,an dε 4Knock-i nMic eUsing Electrospray Ionization Mass Spectrometry (2010) (2)
- Social visual attentional engagement and memory in Phelan-McDermid syndrome and autism spectrum disorder: a pilot eye tracking study (2021) (2)
- Rare schizophrenia risk variant burden is conserved in diverse human populations (2022) (2)
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- PL-03-02: Dissecting the function of APP by the characterization of APP-interacting proteins (2008) (0)
- Dissection of SLITRK1 signalling in neuronal development (2006) (0)
- 31DISCOVERY AND CHARACTERIZATION OF 102 GENES ASSOCIATED WITH AUTISM FROM EXOME SEQUENCING OF 37,269 INDIVIDUALS (2019) (0)
- Parent-reported measure of repetitive behavior in Phelan-McDermid syndrome (2021) (0)
- Genome-wide Association Study Points to Novel Locus for Gilles de la Tourette Syndrome (2023) (0)
- Alzheimer genetics, part I (2001) (0)
- Autism genetics and mouse models (2009) (0)
- Parental Age And Differential Risk For Asd, Adhd, Ocd And Tic Disorders: Data From A Large National Cohort (2017) (0)
- Regulation of cell distancing in peri-plaque glial nets by Plexin-B1 affects glial activation and amyloid compaction in Alzheimer’s disease (2021) (0)
- Levels of Total and Deposited Aβ are Correlated with Dementia (2002) (0)
- GJA1 (connexin43) is a key regulator of Alzheimer’s disease pathogenesis (2018) (0)
- Analysis of Genetically Regulated Gene Expression Identifies a Prefrontal PTSD Gene, SNRNP35, Specific to Military Cohorts (2019) (0)
- Integrated Bayesian analysis of rare exonic variants to identify risk genes for schizophrenia and neurodevelopmental disorders (2017) (0)
- Title : Temporal proteomic profiling of postnatal human cortical development Running title : Integrative omics of postnatal cortical development (2018) (0)
- Brain and blood gene expression pathways associated with susceptibility to PTSD (2012) (0)
- T63GENETIC AND ENVIRONMENTAL FACTORS AND RISK OF OBSESSIVE-COMPULSIVE DISORDER (2019) (0)
- Neuropathology and Synaptic Alterations in Neurodevelopmental Disorders (2013) (0)
- 30. Genetics of autism (2000) (0)
- Large-Scale Reprogramming and Neuronal Differentiation In Complex Psychiatric Disorders (2019) (0)
- Measuring Sensory Reactivity in Autism Spectrum Disorder: Application and Simplification of a Clinician-Administered Sensory Observation Scale (2015) (0)
- Direct additive genetics and maternal effect contribute to the risk of Tourette disorder (2023) (0)
- P3-355 Expression and potential roles of the members of calsenilin family in the brains of scrapie-infected mice (2004) (0)
- Functional Connectivity: Application to Developmental Disorders (2013) (0)
- Author Correction: A consensus protocol for functional connectivity analysis in the rat brain. (2023) (0)
- Explorer Synaptic interactome mining reveals p 140 Cap as a new hub for PSD proteins involved in psychiatric and neurological disorders (2018) (0)
- Exceptionally low likelihood of Alzheimer’s dementia in APOE2 homozygotes from a 5,000-person neuropathological study (2020) (0)
- Faculty Opinions recommendation of An interactome perturbation framework prioritizes damaging missense mutations for developmental disorders. (2018) (0)
- Overexpression of Calsenilin in Sporadic Alzheimer's Disease Brain (2001) (0)
- Calsenilin-Presenilin Interaction in Alzheimer’s Disease (2002) (0)
- GENETICALLY REGULATED GENE EXPRESSION IN BRAIN AND PERIPHERAL TISSUES IN PTSD (2019) (0)
- PEr IPhEral My ElIn ProtEIn-22 Is Ex PrE ssE d In Cns My ElIn (2010) (0)
- Neurobiologic Basis of Age-Related Dementing Disorders (2003) (0)
- Scientific Summaries for Families with ASD (2016) (0)
- S60. The Sensory Domain as a Target for Treatment in ASD Clinical Trials: Electrophysiological and Behavioral Markers of Therapeutic Change (2018) (0)
- Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome (2022) (0)
- Polygenic risk score-based phenome-wide association study identifies novel associations for Tourette syndrome (2022) (0)
- 187. Indices of early dementia (2000) (0)
- Prevalence and Phenotypic Impact of Rare Likely Pathogenic Variants in Autism Spectrum Disorder (2020) (0)
- CommonMind Consortium provides transcriptomic and epigenomic data for Schizophrenia and Bipolar Disorder (2019) (0)
- Association of Anxiety Disorders and Attention Deficit Hyperactivity Disorders With Lower Urinary Tract Symptoms (2020) (0)
- Functional annotation of rare structural variation in the human brain (2020) (0)
- Effects of presenilin 2 in the early secretory pathway (2000) (0)
- 47. GENE DISCOVERY FROM EXOME SEQUENCING IN AUTISM AND COMPARISON TO DEVELOPMENTAL DELAY AND SCHIZOPHRENIA (2021) (0)
- Large deletions perturb peripheral transcriptomic and metabolomic profiles in Phelan-McDermid syndrome (2022) (0)
- mTADA is a framework for identifying risk genes from de novo mutations in multiple traits (2020) (0)
- Molecular characterization of calsenilin, a novel calcium-binding protein, that interacts with the presenilins (2000) (0)
- Author response: Oxytocin improves behavioral and electrophysiological deficits in a novel Shank3-deficient rat (2016) (0)
- Brief Report: Assessment of a Caregiver-Implemented Intervention for Improving Social Communication Skills in Toddlers and Young Children with Autism (2022) (0)
- The presenilin-interacting protein calsenilin enhances apoptosis and modulates IP3-signaling (2000) (0)
- Insights into the molecular changes associated with postnatal human brain development: an integrated transcriptomics and proteomics study (2017) (0)
- Clinical Practicum: Autism Spectrum Disorders: From Genes to Novel Therapeutics (2010) (0)
- Association Studies of Neuropathologically-Confirmed Cases and Controls Reveals that the PARK10 Locus is a Major Contributor to Sporadic Parkinson disease. (S7.005) (2015) (0)
- Protein Phosphorylation Regulates the Cellular Trafficking and Processing of the Alzheimer Beta/A4 Amyloid Precursor Protein (1993) (0)
- Elevated polygenic burden for autism is associated with differential DNA methylation at birth (2018) (0)
- INTEGRATINGMOLECULAR AND CELLULAR DEFICITS IN SCHIZOPHRENIA (2008) (0)
- A role for APP in motility and transcription?: Response from Buxbaum and Sabo (2002) (0)
- CTNNA3, CAPRIN2 and SPG20 are significantly associated with Alzheimer's disease in preliminary analyses of a genome-wide association study in African-Americans (2012) (0)
- FC05-04 - The gamse (grodberg autism mental status examination). Preliminary development of a standardized autism-focused exam (2011) (0)
- Methode de traitement de troubles lies au precurseur beta-amyloide (2000) (0)
- Human TLR4 and noncanonical inflammasome differ in their ability to respond to distinct lipid A variants (2021) (0)
- analyses of exonic number variants in a family-based study point to novel autism susceptibility genes. (2009) (0)
- The Immersive Theater Experience for Individuals with Autism Spectrum Disorder (2019) (0)
- Deciphering DDX3X Syndrome to Capture Determinants of Intellectual Disability (2020) (0)
- Faculty Opinions recommendation of A genetics-led approach defines the drug target landscape of 30 immune-related traits. (2019) (0)
- REPLACING GWAS ARRAYS: CAPTURING GENOMIC DIVERSITY WITH A NOVEL WHOLE-EXOME PLUS LOW-PASS WHOLE GENOME PRODUCT (2022) (0)
- The Neuroscience Of Autism Spectrum Disorders By Joseph D Buxbaum (2021) (0)
- Correlation between Aβ42 deposition and clinical demetia (2000) (0)
- Genetic maternal effects contributes to the risk of Tourette's disorder (2020) (0)
- SESSION VI: Animal Models (2015) (0)
- P-161: Amyloid beta (Aβ) is unaltered with highly elevated peripheral cholesterol in mice lacking the low-density lipoprotein receptor (2007) (0)
- Functional dissection of SLITRK1 signaling (2007) (0)
- Response to Ott and Hoh (2012) (0)
- Molecular and Cellular Analyses across Three Autism-Associated Genetic Disorders (2019) (0)
- Finding genes in Mendelian disorders using sequence data: methods and applications (2011) (0)
- Erratum to: Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome (2016) (0)
- Methode de traitement de troubles de la maturation du precurseur de la proteine ? amyloide (2002) (0)
- Publisher Correction: Gene expression imputation across multiple brain regions provides insights into schizophrenia risk (2019) (0)
- GRB-associated binding protein 2 (GAB2) interacts with APOE to alter risk of late-onset Alzheimer's disease (2009) (0)
- Publisher Correction: Gene expression imputation across multiple brain regions provides insights into schizophrenia risk (2019) (0)
- Epigenetics in Early Life Programming (2013) (0)
- EIGEN : A SPECTRAL APPROACH TO THE INTEGRATION OF FUNCTIONAL GENOMICS ANNOTATIONS FOR BOTH CODING AND NONCODING SEQUENCE VARIANTS (2015) (0)
- TrackUSF, a novel tool for automated ultrasonic vocalization analysis, reveals modified calls in a rat model of autism (2022) (0)
- M13 BEHAVIOR PHENOTYPING OF A MOUSE MODEL OF PHELAN MCDERMID SYNDROME WITH A FULL DELETION OF SHANK3 GENE (2019) (0)
- Getting from 1,000 Genes to a Triad of Symptoms: The Emerging Role of Systems Biology in Autism Spectrum Disorders (2013) (0)
- 5.45 RECURRENT AND LARGE COPY NUMBER VARIATION IN OCD RISK: RESULTS FROM THE EGOS STUDY (2019) (0)
- Protein Phosphorylation Regulates Processing of the Alzheimer β/A4-Amyloid Precursor Protein (1992) (0)
- Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations (2023) (0)
- Acetate supplementation rescues social deficits and alters transcriptional regulation in prefrontal cortex of Shank3 deficient mice (2023) (0)
- Exome Sequencing Identifies Novel Gene For Recessive Retinitis Pigmentosa (2011) (0)
- Identification of rare de novo epigenetic variations in congenital disorders (2018) (0)
- 447. Reduction of Sensory Reactivity Symptoms Corresponds to Improved Psychiatric Symptoms in an Open-Label Study of Low-Dose Ketamine in Children With ADNP Syndrome (2023) (0)
- Prospective phenotyping of CHAMP1 disorder indicates that coding mutations do not act through haploinsufficiency (2023) (0)
- Maternal rheumatoid arthritis and risk of autism in the offspring. (2023) (0)
- Autism: a molecular plasticity disorder (2007) (0)
- O2-07-04 COPY NUMBER POLYMORPHISM AT CHROMOSOME 19 LOCUS ASSOCIATED WITH LATE-ONSET ALZHEIMER’S DISEASE (2010) (0)
- 562. Indices of early dementia: neocortical levels of amyloid β-peptide (2000) (0)
- Screening of candidate genes related to myelination for mutations associated with schizophrenia (2001) (0)
- Molecular Mechanisms Underlying Individual Differences in Response to Stress in a Previously Validated Animal Model of PTSD (2010) (0)
- University of Groningen De Novo Sequence and Copy Number Variants Are Strongly Associated with Tourette Disorder and Implicate Cell Polarity in Pathogenesis Tourette (2018) (0)
- The Effect of an Autism-Associated Polymorphism in the STK39 Gene on the Autism Symptom Domains (2011) (0)
- Recessive gene disruptions in autism spectrum disorder (2019) (0)
- Highly conserved molecular pathways, including Wnt signaling, promote functional recovery from spinal cord injury in lampreys (2018) (0)
- Increased Expression of Calsenilin in the Brains of Scrapie‐infected Mice (2001) (0)
- Computational challenges in modeling maternal effects in psychiatric disorders (2016) (0)
- Making Sense of Antisense: Getting From a Locus to a Gene (2020) (0)
- A novel approach of homozygous haplotype sharing identifies candidate genes in autism spectrum disorder (2011) (0)
- Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) (0)
- Systematic Review and Meta-Analysis Identifies Significant Relationships Between Anxiety Disorders and Daytime Lower Urinary Tract Symptoms (2020) (0)
- Language ENvironment Analysis (LENA) in Phelan-McDermid Syndrome: Validity and Suggestions for Use in Minimally Verbal Children with Autism Spectrum Disorder (2017) (0)
- Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome (2012) (0)
- SU11 GENETICALLY PREDICTED GENE EXPRESSION IN THE BRAIN AND PERIPHERAL TISSUES ASSOCIATES WITH PTSD (2019) (0)
- Assessing the utility of electronic measures as a proxy for cognitive ability (2022) (0)
- S20. Symposium: THE PHENOTYPIC SPECTRUM OF AUTISM CHALLENGED BY GENETIC STUDIES (2007) (0)
- S62. Neurotransmitter-Wide Association Study of Prenatal Exposure to Medication With Autism Spectrum Disorder (2018) (0)
- Neural selectivity for communicative auditory signals in Phelan-McDermid syndrome (2016) (0)
- Integrative Analyses of Autism And Intellectual Disability Exome Data Reveal Similarities And Divergences And Identify Novel Risk Genes For Both Disorders (2017) (0)
- P4-081 Highly elevated peripheral cholesterol does not regulate brain cholesterol or levels of soluble amyloid beta (Aβ) (2006) (0)
- Autism Sequencing Consortium (ASC) iPSYCH-BROAD Consortium Broad Institute Center for Common Disease Genomics (Broad-CCDG) (2021) (0)
- Psychometric properties of the Swedish translation of the Obsessive–Compulsive Inventory-Revised and the population characteristics of the symptom dimensions of OCD (2022) (0)
- Comprehensive Variant Discovery in the Late-Onset Alzheimer’s Disease Susceptibility Gene MTHFD1L Using Next Generation Sequencing Technology (2011) (0)
- β amyloid precursor protein metabolism is regulated in vivo by protein kinase C in rat brain (1995) (0)
- Procedure genetic risk assessment relating to autism. (2004) (0)
- 176 Non-protease approaches to modulating APP processing: is there therapeutic relevance? (1996) (0)
- Identification of common genetic risk variants for autism spectrum disorder (2019) (0)
- Prioritizing risk genes for neurodevelopmental disorders using pathway information (2018) (0)
- Linkage and association analysis across an autism susceptibility locus on chromosome 2q in autism: Functional analysis of AGC1/SLC25A12 (2006) (0)
- Short Communication Intraneuronal A b 42 Accumulation in Human Brain (1999) (0)
- ELAVL4 locus confirmed in depression of Alzheimer's disease (2009) (0)
- Abstracts of the 26th World Congress of Psychiatric Genetics (WCPG): Symposia abstracts (2018) (0)
- Genome-wide association study validates associations in APOE, VDR, SORL1, WWC1, and ELAVL4 and identifies novel candidate genes for late-onset Alzheimer's disease (2009) (0)
- An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder (2018) (0)
- Developmental and behavioral phenotypes in a new mouse model of DDX3X syndrome (2021) (0)
- PTSD BLOOD TRANSCRIPTOME MEGA-ANALYSIS: INFLAMMATORY PATHWAYS ACROSS BIOLOGICAL SEX AND MODES OF TRAUMA (2019) (0)
- Skewed X-chromosome inactivation in unsolved neurodevelopmental disease cases can guide re-evaluation For X-linked genes. (2023) (0)
- Method for determining the relative genetic risk for autism (2004) (0)
- Rare Variants of Substantial Effect in Psychiatric Disorders of Childhood Onset (2013) (0)
- Reduced axonal caliber and white matter changes in a rat model of Fragile X syndrome with a deletion of a K Homology domain of Fmr1 (2019) (0)
- IIIHIIIHIIIHIIII US 005538983 A 11 Patent Number : 45 ) Date of Patent : 5 , 538 , 983 Jul . 23 , 1996 (2017) (0)
- Editorial Board (2009) (0)
- Interactions between calsenilin and the presenilins (2000) (0)
- Symposium (1987) (0)
- Somatic comorbidities of mental disorders in pregnancy (2023) (0)
- 2013 Daniel H. Efron Research Award (2012) (0)
- Title : Genetic maternal effects contributes to the risk of Tourette ' s disorder (2020) (0)
- Faculty Opinions recommendation of Single-cell genomics identifies cell type-specific molecular changes in autism. (2019) (0)
- Wash, rinse, repeat... : psychiatry - obsessive compulsive disorder (2016) (0)
- S.18.01 Schizophrenia: Effects of aging on cognition (2003) (0)
- The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism (2013) (0)
- VKučinskas-2001-2016 (2016) (0)
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