Jonathan Sebat
Genetics · 2004–2020
A researcher in the Science corpus: 18 papers; trusts 2 researchers and is trusted by 0 researchers here, as inferred from the citation graph.
Subfields
- Genetics — 264 citations into it
- Molecular Biology — 203 citations into it
Whom Jonathan Sebat trusts overall
Their strongest outbound trust, strongest first, inferred from their citations.
Who trusts Jonathan Sebat overall
Papers from Jonathan Sebat's perspective
Ordered by how strongly the researchers Jonathan Sebat trusts endorse each paper. Same corpus, a different order for every researcher.
- Detection of large-scale variation in the human genome (Nature Genetics)
- Integrated detection and population-genetic analysis of SNPs and copy number variation (Nature Genetics)
- Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia (Science)
- Accurate Whole Human Genome Sequencing using Reversible Terminator Chemistry (Nature)
- Disruption of two novel genes by a translocation co-segregating with schizophrenia. (Human Molecular Genetics)
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes (New England Journal of Medicine)
- Mapping short DNA sequencing reads and calling variants using mapping quality scores. (Genome Research)
- Population analysis of large copy number variants and hotspots of human genetic disease. (American Journal of Human Genetics)
- Recessive symptomatic focal epilepsy and mutant contactin-associated protein-like 2. (New England Journal of Medicine)
Their papers
- A global reference for human genetic variation (2015) — 16,925 citations
- Multi-platform discovery of haplotype-resolved structural variation in human genomes (2017) — 796 citations
- Sensitive and accurate detection of copy number variants using read depth of coverage. (2009) — 633 citations
- Inferring the molecular and phenotypic impact of amino acid variants with MutPred2 (2020) — 618 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
- Modeling schizophrenia using hiPSC neurons (2011) — 1,267 citations
- A recurrent 16p12.1 microdeletion suggests a two-hit model for severe developmental delay (2010) — 596 citations
- Microduplications of 16p11.2 are Associated with Schizophrenia (2009) — 730 citations
- An integrated map of structural variation in 2,504 human genomes (2015) — 2,247 citations
- Whole Genome Sequencing in Autism Identifies Hotspots for De Novo Germline Mutation (2012) — 547 citations
- CNVs: Harbinger of a Rare Variant Revolution in Psychiatric Genetics (2012) — 880 citations
- Mapping copy number variation by population scale genome sequencing (2011) — 1,130 citations
- Modelling schizophrenia using human induced pluripotent stem cells (2011) — 149 citations
- Recurrent Rearrangements of Chromosome 1q21.1 and Variable Pediatric Phenotypes (2008) — 695 citations
- Rare Structural Variants Disrupt Multiple Genes in Neurodevelopmental Pathways in Schizophrenia (2008) — 1,770 citations
- Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene. (2008) — 844 citations
- Strong Association of De Novo Copy Number Mutations with Autism (2007) — 2,845 citations
- Large-Scale Copy Number Polymorphism in the Human Genome (2004) — 2,601 citations