List of works - Jonathan Sebat

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

A framework for the investigation of rare genetic disorders in neuropsychiatry

scientific article published on 23 September 2019

A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

scientific article published in 2022

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

scientific article

A unified genetic theory for sporadic and inherited autism

scientific article

An integrated map of structural variation in 2,504 human genomes

scientific article

Antimicrobial properties of pyridine-2,6-dithiocarboxylic acid, a metal chelator produced by Pseudomonas spp.

scientific article

Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements

article

Autism risk in offspring can be assessed through quantification of male sperm mosaicism

scientific article published on 23 December 2019

Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling

scientific article published on 16 March 2021

CNVs: harbingers of a rare variant revolution in psychiatric genetics

scientific article

Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells.

scientific article published on June 2015

Completing the map of human genetic variation

scientific article published on May 2007

Computing power and sample size for case-control association studies with copy number polymorphism: application of mixture-based likelihood ratio test

scientific article

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

scientific article

Copy-number variants in patients with a strong family history of pancreatic cancer

article

Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism

scientific article published on 26 August 2021

Differential relationship of DNA replication timing to different forms of human mutation and variation

scientific article

Distribution of short paired duplications in mammalian genomes

scholarly article

Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis

scientific article published on 9 February 2017

Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia

scientific article

Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia

scientific article published on October 2013

From de novo mutations to personalized therapeutic interventions in autism

scientific article

Genetics: Fish heads and human disease

scientific article published on 16 May 2012

Genomewide association study of movement-related adverse antipsychotic effects

scientific article

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.

scientific article

High frequencies of de novo CNVs in bipolar disorder and schizophrenia

scientific article published on December 2011

Implication of a rare deletion at distal 16p11.2 in schizophrenia

scientific article published on March 2013

Inferring haplotypes of copy number variations from high-throughput data with uncertainty

scientific article

Inferring the molecular and phenotypic impact of amino acid variants with MutPred2

scientific article published on 20 November 2020

Large-scale copy number polymorphism in the human genome

scientific article

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

scientific article

Major changes in our DNA lead to major changes in our thinking

scientific article published on July 2007

Mapping copy number variation by population-scale genome sequencing

scientific article

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.

scientific article

Metagenomic profiling: microarray analysis of an environmental genomic library

scientific article

Metal chelating properties of pyridine-2,6-bis(thiocarboxylic acid) produced by Pseudomonas spp. and the biological activities of the formed complexes

scientific article

Microduplications of 16p11.2 are associated with schizophrenia

scientific article

Modelling schizophrenia using human induced pluripotent stem cells

scientific article

Multi-platform discovery of haplotype-resolved structural variation in human genomes

scientific article published on 16 April 2019

PROBER: oligonucleotide FISH probe design software.

scientific article published in June 2006

Paternally inherited cis-regulatory structural variants are associated with autism.

scientific article published in April 2018

Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.

scientific article published on 11 April 2014

Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

correction of a scholarly article

Ranking of non-coding pathogenic variants and putative essential regions of the human genome

scientific article published on 20 November 2019

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

scientific article

Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders

scientific article

Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia

scientific article published on 17 July 2013

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

scientific article

Reduced NMDAR1 expression in the Sp4 hypomorphic mouse may contribute to endophenotypes of human psychiatric disorders

scientific article

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism

scientific article

Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation

scientific article (publication date: October 2003)

Sensitive and accurate detection of copy number variants using read depth of coverage

scientific article published on 5 August 2009

Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases

scientific article published on February 2015

Strong association of de novo copy number mutations with autism

scientific article

The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles.

scientific article published on 20 September 2015

The effects of common structural variants on 3D chromatin structure

scientific article published on 30 January 2020

The role of rare structural variants in the genetics of autism spectrum disorders

scientific article

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.

scientific article published on December 2012

forestSV: structural variant discovery through statistical learning

scientific article

List of works by Jonathan Sebat

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

A framework for the investigation of rare genetic disorders in neuropsychiatry

A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

A unified genetic theory for sporadic and inherited autism

An integrated map of structural variation in 2,504 human genomes

Antimicrobial properties of pyridine-2,6-dithiocarboxylic acid, a metal chelator produced by Pseudomonas spp.

Application of ROMA (representational oligonucleotide microarray analysis) to patients with cytogenetic rearrangements

Autism risk in offspring can be assessed through quantification of male sperm mosaicism

Autism-linked Cullin3 germline haploinsufficiency impacts cytoskeletal dynamics and cortical neurogenesis through RhoA signaling

CNVs: harbingers of a rare variant revolution in psychiatric genetics

Characterization of molecular and cellular phenotypes associated with a heterozygous CNTNAP2 deletion using patient-derived hiPSC neural cells.

Completing the map of human genetic variation

Computing power and sample size for case-control association studies with copy number polymorphism: application of mixture-based likelihood ratio test

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

Copy-number variants in patients with a strong family history of pancreatic cancer

Cortical organoids model early brain development disrupted by 16p11.2 copy number variants in autism

Differential relationship of DNA replication timing to different forms of human mutation and variation

Distribution of short paired duplications in mammalian genomes

Divergent Levels of Marker Chromosomes in an hiPSC-Based Model of Psychosis

Duplications of the neuropeptide receptor gene VIPR2 confer significant risk for schizophrenia

Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia

From de novo mutations to personalized therapeutic interventions in autism

Genetics: Fish heads and human disease

Genomewide association study of movement-related adverse antipsychotic effects

Genomic duplication and overexpression of TJP2/ZO-2 leads to altered expression of apoptosis genes in progressive nonsyndromic hearing loss DFNA51.

High frequencies of de novo CNVs in bipolar disorder and schizophrenia

Implication of a rare deletion at distal 16p11.2 in schizophrenia

Inferring haplotypes of copy number variations from high-throughput data with uncertainty

Inferring the molecular and phenotypic impact of amino acid variants with MutPred2

Large-scale copy number polymorphism in the human genome

Linkage, association, and gene-expression analyses identify CNTNAP2 as an autism-susceptibility gene

Major changes in our DNA lead to major changes in our thinking

Mapping copy number variation by population-scale genome sequencing

Marker chromosome genomic structure and temporal origin implicate a chromoanasynthesis event in a family with pleiotropic psychiatric phenotypes.

Metagenomic profiling: microarray analysis of an environmental genomic library

Metal chelating properties of pyridine-2,6-bis(thiocarboxylic acid) produced by Pseudomonas spp. and the biological activities of the formed complexes

Microduplications of 16p11.2 are associated with schizophrenia

Modelling schizophrenia using human induced pluripotent stem cells

Multi-platform discovery of haplotype-resolved structural variation in human genomes

PROBER: oligonucleotide FISH probe design software.

Paternally inherited cis-regulatory structural variants are associated with autism.

Protein interaction network of alternatively spliced isoforms from brain links genetic risk factors for autism.

Publisher Correction: A phenotypic spectrum of autism is attributable to the combined effects of rare variants, polygenic risk and sex

Ranking of non-coding pathogenic variants and putative essential regions of the human genome

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia

Rare structural variants in schizophrenia: one disorder, multiple mutations; one mutation, multiple disorders

Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes

Reduced NMDAR1 expression in the Sp4 hypomorphic mouse may contribute to endophenotypes of human psychiatric disorders

Reduced transcript expression of genes affected by inherited and de novo CNVs in autism

Representational oligonucleotide microarray analysis: a high-resolution method to detect genome copy number variation

Sensitive and accurate detection of copy number variants using read depth of coverage

Spatiotemporal 16p11.2 protein network implicates cortical late mid-fetal brain development and KCTD13-Cul3-RhoA pathway in psychiatric diseases

Strong association of de novo copy number mutations with autism

The Influence of Microdeletions and Microduplications of 16p11.2 on Global Transcription Profiles.

The effects of common structural variants on 3D chromatin structure

The role of rare structural variants in the genetics of autism spectrum disorders

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.

forestSV: structural variant discovery through statistical learning