List of works - Carl Edward Baker

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

scientific article

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

scientific article published on 08 June 2009

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

scientific article published on 17 February 2008

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

scientific article

Disagreement and semantic relativity : the case of aesthetic discourse

doctoral thesis

Disruptive CHD8 mutations define a subtype of autism early in development

scientific article

Erratum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

scholarly article by Brian J O'Roak et al published April 2012 in Nature Genetics

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

scientific article (publication date: June 2011)

Gibbon genome and the fast karyotype evolution of small apes

scientific article

Global diversity, population stratification, and selection of human copy-number variation

scientific article

Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee

scientific article

High-resolution comparative analysis of great ape genomes

scientific article published in Science

Long-read sequence assembly of the gorilla genome

scientific article published on April 2016

Population analysis of large copy number variants and hotspots of human genetic disease

scientific article published on 22 January 2009

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

scientific article

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

scientific article

Refining analyses of copy number variation identifies specific genes associated with developmental delay

scientific article

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

scientific article

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations

scientific article (publication date: 4 April 2012)

List of works by Carl Edward Baker

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy

A method for rapid, targeted CNV genotyping identifies rare variants associated with neurocognitive disease

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures

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

Disagreement and semantic relativity : the case of aesthetic discourse

Disruptive CHD8 mutations define a subtype of autism early in development

Erratum: Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations

Gibbon genome and the fast karyotype evolution of small apes

Global diversity, population stratification, and selection of human copy-number variation

Gorilla genome structural variation reveals evolutionary parallelisms with chimpanzee

High-resolution comparative analysis of great ape genomes

Long-read sequence assembly of the gorilla genome

Population analysis of large copy number variants and hotspots of human genetic disease

Recurrent microdeletions at 15q11.2 and 16p13.11 predispose to idiopathic generalized epilepsies

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

Refining analyses of copy number variation identifies specific genes associated with developmental delay

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations