List of works - Bhooma Thiruvahindrapuram

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

A discovery resource of rare copy number variations in individuals with autism spectrum disorder

scientific article

A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome

scientific article published on 10 July 2017

Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage

scientific article published on 28 September 2017

Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing.

scientific article

Clinically relevant copy number variations detected in cerebral palsy

scientific article

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

article

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

scientific article (publication date: 8 May 2011)

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

scientific article

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

scientific article

Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders

scientific article

Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes

scientific article

Copy number variation in Han Chinese individuals with autism spectrum disorder

scientific article

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study

scientific article

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

scientific article

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

scientific article published on 11 July 2013

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

scientific article published on 30 December 2013

Genome-wide characteristics of de novo mutations in autism

scientific article published on August 2016

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

scientific article published on July 2016

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

scientific article published on September 2015

Novel population specific autosomal copy number variation and its functional analysis amongst Negritos from Peninsular Malaysia

scientific article (publication date: 2014)

Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy

scientific article

Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.

scientific article

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways

scientific article

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

scientific article published on 7 February 2013

Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

scientific article

The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.

scientific article published on 14 January 2016

Using Next-Generation Sequencing Transcriptomics To Determine Markers of Post-traumatic Symptoms: Preliminary Findings from a Post-deployment Cohort of Soldiers

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

scientific article

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

scientific article published on 6 March 2017

Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome

scientific article

Whole-genome sequencing of quartet families with autism spectrum disorder

scientific article published on 26 January 2015

List of works by Bhooma Thiruvahindrapuram

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

A discovery resource of rare copy number variations in individuals with autism spectrum disorder

A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome

Atypical autism in a boy with double duplication of 22q11.2: implications of increasing dosage

Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing.

Clinically relevant copy number variations detected in cerebral palsy

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

Complete Disruption of Autism-Susceptibility Genes by Gene Editing Predominantly Reduces Functional Connectivity of Isogenic Human Neurons

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants

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

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders

Copy Number Variation Analysis of 100 Twin Pairs Enriched for Neurodevelopmental Disorders

Copy number variant study of bipolar disorder in Canadian and UK populations implicates synaptic genes

Copy number variation in Han Chinese individuals with autism spectrum disorder

Copy number variation in obsessive-compulsive disorder and tourette syndrome: a cross-disorder study

De novo and rare inherited copy-number variations in the hemiplegic form of cerebral palsy

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing

Disruption of the ASTN2/TRIM32 locus at 9q33.1 is a risk factor in males for autism spectrum disorders, ADHD and other neurodevelopmental phenotypes

Genome-wide characteristics of de novo mutations in autism

Indexing Effects of Copy Number Variation on Genes Involved in Developmental Delay

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder

Novel population specific autosomal copy number variation and its functional analysis amongst Negritos from Peninsular Malaysia

Rare Copy Number Variants Identified Suggest the Regulating Pathways in Hypertension-Related Left Ventricular Hypertrophy

Rare copy number variation discovery and cross-disorder comparisons identify risk genes for ADHD.

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways

Rare exonic deletions implicate the synaptic organizer Gephyrin (GPHN) in risk for autism, schizophrenia and seizures

Recurrent duplications of the annexin A1 gene (ANXA1) in autism spectrum disorders

The 22q11 PRODH/DGCR6 deletion is frequent in hyperprolinemic subjects but is not a strong risk factor for ASD.

Using Next-Generation Sequencing Transcriptomics To Determine Markers of Post-traumatic Symptoms: Preliminary Findings from a Post-deployment Cohort of Soldiers

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

Whole-Genome Sequencing Suggests Schizophrenia Risk Mechanisms in Humans with 22q11.2 Deletion Syndrome

Whole-genome sequencing of quartet families with autism spectrum disorder