List of works - Santhosh Girirajan

A burst of segmental duplications in the genome of the African great ape ancestor

scientific article published on February 2009

A genetic model for neurodevelopmental disease ⬇️

scientific article published on May 2, 2012

A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome.

scientific article published on 27 November 2017

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

scientific article

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

scientific article

An assessment of sex bias in neurodevelopmental disorders

scientific article

An evolutionary driver of interspersed segmental duplications in primates

scientific article published on 10 August 2020

An interaction-based model for neuropsychiatric features of copy-number variants

scientific article published on 17 January 2019

Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

scientific article

Clinical utility gene card for: 16p12.2 microdeletion

scientific article published on 16 November 2016

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP ⬇️

scientific article (publication date: 9 March 2012)

De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.

scientific article

Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development

scientific article published on 24 June 2020

Epigenetics of autism-related impairment: copy number variation and maternal infection

scientific article

Erratum: A burst of segmental duplications in the genome of the African great ape ancestor

scientific article published in Nature

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

Evidence for involvement of GNB1L in autism

scientific article

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

scientific article (publication date: June 2011)

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

scientific article published on 17 January 2013

Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis

scientific article published on 05 April 2021

Gene discoveries in autism are biased towards comorbidity with intellectual disability

scientific article published on 09 March 2020

Genomic architecture of aggression: Rare copy number variants in intermittent explosive disorder ⬇️

scientific article published on August 2, 2011

Global increases in both common and rare copy number load associated with autism

scientific article published on 27 March 2013

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

scientific article published on April 2012

Human Copy Number Variation and Complex Genetic Disease ⬇️

scientific article published on August 19, 2011

Implication of LRRC4C and DPP6 in neurodevelopmental disorders

scientific article published on 19 October 2016

Mapping a shared genetic basis for neurodevelopmental disorders.

scientific article

Molecular basis for phenotypic similarity of genetic disorders

scientific article published on 23 April 2019

NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models

scientific article published on 13 February 2020

Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity.

scientific article

Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.

scientific article

Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster.

scientific article

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

scientific article

Phenotypic variability and genetic susceptibility to genomic disorders

scientific article published on 31 August 2010

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

scientific article published on 22 January 2009

Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogaster.

scientific article

Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects ⬇️

scientific article published on April 23, 2012

Rare copy number variation in cerebral palsy

scientific article published on 22 May 2013

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

scientific article published on 7 September 2018

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder

scientific article

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

scientific article

Sequencing human-gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites

scientific article

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications ⬇️

scientific article published on March 1, 2010

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

scientific article (publication date: 4 April 2012)

Support for the N -Methyl-D-Aspartate Receptor Hypofunction Hypothesis of Schizophrenia From Exome Sequencing in Multiplex Families

article

The genetic variability and commonality of neurodevelopmental disease ⬇️

scientific article published on April 12, 2012

The origins and impact of primate segmental duplications

scientific article

List of works by Santhosh Girirajan

A burst of segmental duplications in the genome of the African great ape ancestor

A genetic model for neurodevelopmental disease ⬇️

A higher rare CNV burden in the genetic background potentially contributes to intellectual disability phenotypes in 22q11.2 deletion syndrome.

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk

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

An assessment of sex bias in neurodevelopmental disorders

An evolutionary driver of interspersed segmental duplications in primates

An interaction-based model for neuropsychiatric features of copy-number variants

Autosomal dominant familial dyskinesia and facial myokymia: single exome sequencing identifies a mutation in adenylyl cyclase 5.

Clinical utility gene card for: 16p12.2 microdeletion

De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP ⬇️

De Novo and Rare Variants at Multiple Loci Support the Oligogenic Origins of Atrioventricular Septal Heart Defects.

Drosophila models of pathogenic copy-number variant genes show global and non-neuronal defects during development

Epigenetics of autism-related impairment: copy number variation and maternal infection

Erratum: A burst of segmental duplications in the genome of the African great ape ancestor

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

Evidence for involvement of GNB1L in autism

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

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus

Functional assessment of the "two-hit" model for neurodevelopmental defects in Drosophila and X. laevis

Gene discoveries in autism are biased towards comorbidity with intellectual disability

Genomic architecture of aggression: Rare copy number variants in intermittent explosive disorder ⬇️

Global increases in both common and rare copy number load associated with autism

Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features

Human Copy Number Variation and Complex Genetic Disease ⬇️

Implication of LRRC4C and DPP6 in neurodevelopmental disorders

Mapping a shared genetic basis for neurodevelopmental disorders.

Molecular basis for phenotypic similarity of genetic disorders

NCBP2 modulates neurodevelopmental defects of the 3q29 deletion in Drosophila and Xenopus laevis models

Novel metrics to measure coverage in whole exome sequencing datasets reveal local and global non-uniformity.

Parental Origin of Interstitial Duplications at 15q11.2-q13.3 in Schizophrenia and Neurodevelopmental Disorders.

Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster.

Phenotypic heterogeneity of genomic disorders and rare copy-number variants

Phenotypic variability and genetic susceptibility to genomic disorders

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

Quantitative Assessment of Eye Phenotypes for Functional Genetic Studies Using Drosophila melanogaster.

Rare copy number variants in isolated sporadic and syndromic atrioventricular septal defects ⬇️

Rare copy number variation in cerebral palsy

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder

Relative burden of large CNVs on a range of neurodevelopmental phenotypes

Sequencing human-gibbon breakpoints of synteny reveals mosaic new insertions at rearrangement sites

Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications ⬇️

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

Support for the N -Methyl-D-Aspartate Receptor Hypofunction Hypothesis of Schizophrenia From Exome Sequencing in Multiplex Families

The genetic variability and commonality of neurodevelopmental disease ⬇️

The origins and impact of primate segmental duplications