List of works - Jaya Punetha

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies

scientific article

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

scientific article published on 12 October 2016

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

scientific article published on 17 October 2019

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

scientific article published on 11 July 2019

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

scientific article published on 14 April 2020

Congenital titinopathy: Comprehensive characterisation and pathogenic insights

scientific article published on 25 April 2018

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability

scientific article published on 01 January 2020

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.

scientific article published on 9 May 2016

Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance

scientific article

Facile synthesis of nucleoside 5'-(α-P-seleno)-triphosphates and phosphoroselenoate RNA transcription

scientific article

Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study

scientific article

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

scientific article published on 24 October 2019

Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis

article

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

article

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

article

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

scientific article

Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects

scientific article published on 27 June 2016

Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm

article

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine

scientific article

Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar

scientific article

Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy

scientific article published on 9 March 2016

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

scientific article published in May 2016

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

scientific article published on 20 June 2019

The Role of FREM2 and FRAS1 in the Development of Congenital Diaphragmatic Hernia

scientific article published on 28 March 2018

Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation

scientific article published on 31 March 2020

List of works by Jaya Punetha

A novel mutation expands the genetic and clinical spectrum of MYH7-related myopathies

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

Bi-allelic Pathogenic Variants in TUBGCP2 Cause Microcephaly and Lissencephaly Spectrum Disorders

Biallelic CACNA2D2 variants in epileptic encephalopathy and cerebellar atrophy

Biallelic GRM7 variants cause epilepsy, microcephaly, and cerebral atrophy

Congenital titinopathy: Comprehensive characterisation and pathogenic insights

Deficiencies in vesicular transport mediated by TRAPPC4 are associated with severe syndromic intellectual disability

Diagnosis and etiology of congenital muscular dystrophy: We are halfway there.

Exome Sequencing Identifies DYNC1H1 Variant Associated With Vertebral Abnormality and Spinal Muscular Atrophy With Lower Extremity Predominance

Facile synthesis of nucleoside 5'-(α-P-seleno)-triphosphates and phosphoroselenoate RNA transcription

Genetic modifiers of ambulation in the Cooperative International Neuromuscular Research Group Duchenne Natural History Study

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder

Identification of a pathogenic PMP2 variant in a multi-generational family with CMT type 1: Clinical gene panels versus genome-wide approaches to molecular diagnosis

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

Missense Variants in the Histone Acetyltransferase Complex Component Gene TRRAP Cause Autism and Syndromic Intellectual Disability

Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan

Novel Col12A1 variant expands the clinical picture of congenital myopathies with extracellular matrix defects

Prioritization of Candidate Genes for Congenital Diaphragmatic Hernia in a Critical Region on Chromosome 4p16 using a Machine-Learning Algorithm

Recessive ACTA1 variant causes congenital muscular dystrophy with rigid spine

Short read (next-generation) sequencing: a tutorial with cardiomyopathy diagnostics as an exemplar

Somatic mosaicism due to a reversion variant causing hemi-atrophy: a novel variant of dystrophinopathy

Targeted Re-Sequencing Emulsion PCR Panel for Myopathies: Results in 94 Cases.

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

The Role of FREM2 and FRAS1 in the Development of Congenital Diaphragmatic Hernia

Wolff-Parkinson-White syndrome: De novo variants and evidence for mutational burden in genes associated with atrial fibrillation