Joseph D. Buxbaum
Molecular Biology · 2000–2022
A researcher in the Science corpus: 30 papers; trusts 2 researchers and is trusted by 3 researchers here, as inferred from the citation graph.
Subfields
- Molecular Biology — 412 citations into it; #14,159 of 17,773 by trust here, #1,075 by citations
Whom Joseph D. Buxbaum trusts
Their strongest outbound trust, strongest first, inferred from their citations.
- Martin Renqiang Min (in Molecular Biology)
- ENCODEConsortium (in Molecular Biology)
Who trusts Joseph D. Buxbaum
- D. Selkoe (in Physiology)
- Joseph A. Marsh (in Genetics)
- B. Livesey (in Genetics)
Papers from Joseph D. Buxbaum's perspective
Ordered by how strongly the researchers Joseph D. Buxbaum trusts endorse each paper. Same corpus, a different order for every researcher.
- Functional Impact of Global Rare Copy Number Variation in Autism Spectrum Disorder (Nature)
- A general framework for estimating the relative pathogenicity of human genetic variants
- Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses (Neuron)
- Exome sequencing as a tool for Mendelian disease gene discovery
- A Copy Number Variation Morbidity Map of Developmental Delay (Nature Genetics)
- Sequencing technologies — the next generation (Nature reviews genetics)
- RNA-Seq: a revolutionary tool for transcriptomics (Nature reviews genetics)
- Common genetic variants on 5p14.1 associate with autism spectrum disorders (Nature)
- Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. (American Journal of Human Genetics)
- Genotype Imputation with Thousands of Genomes (G3: Genes, Genomes, Genetics)
Their papers
- A SPECTRAL APPROACH INTEGRATING FUNCTIONAL GENOMIC ANNOTATIONS FOR CODING AND NONCODING VARIANTS (2016) — 572 citations
- Functional Impact of Global Rare Copy Number Variation in Autism Spectrum Disorder (2010) — 2,055 citations
- A framework for the interpretation of de novo mutation in human disease (2014) — 1,035 citations
- Gene Expression Elucidates Functional Impact of Polygenic Risk for Schizophrenia (2016) — 1,080 citations
- Meta-analysis of 74,046 individuals identifies 11 new susceptibility loci for Alzheimer’s disease (2013) — 4,257 citations
- 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) — 1,284 citations
- Sequencing of the sea lamprey (Petromyzon marinus) genome provides insights into vertebrate evolution (2013) — 639 citations
- Common variants in MS4A4/MS4A6E, CD2uAP, CD33, and EPHA1 are associated with late-onset Alzheimer’s disease (2011) — 1,887 citations
- Genome-wide expression analysis reveals dysregulation of myelination-related genes in chronic schizophrenia (2001) — 1,231 citations
- Genetic meta-analysis of diagnosed Alzheimer’s disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing (2019) — 2,422 citations
- Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism (2019) — 2,000 citations
- Mapping genomic loci implicates genes and synaptic biology in schizophrenia (2022) — 2,226 citations
- Mapping the human genetic architecture of COVID-19 (2021) — 807 citations
- Identification of common genetic risk variants for autism spectrum disorder (2019) — 2,059 citations
- Genomic dissection of bipolar disorder and schizophrenia including 28 subphenotypes (2018) — 667 citations
- Refining the role of de novo protein truncating variants in neurodevelopmental disorders using population reference samples (2016) — 373 citations
- Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci (2015) — 1,391 citations
- Psychiatric genome-wide association study analyses implicate neuronal, immune and histone pathways (2015) — 750 citations
- Convergence of Genes and Cellular Pathways Dysregulated in Autism Spectrum Disorders (2014) — 930 citations
- Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. (2014) — 595 citations