List of works - Yalda Jamshidi

52 Genetic Loci Influencing Myocardial Mass

scientific article

A Comparison of Heritability Estimates by Classical Twin Modeling and Based on Genome-Wide Genetic Relatedness for Cardiac Conduction Traits

scientific article published on 17 October 2017

A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes

scientific article published on 18 November 2011

Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.

scientific article

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.

scientific article published on 22 December 2017

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

scientific article published on 01 October 2019

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

scientific article published on 21 October 2019

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

scientific article published on 22 June 2020

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.

scientific article

Characterization of the human PPARalpha promoter: identification of a functional nuclear receptor response element

scientific article published in May 2002

Coagulation Gene Expression Profiling in Infants With Necrotizing Enterocolitis

scientific article

Common STAT3 variants are not associated with obesity or insulin resistance in female twins

scientific article

Common TGFβ2, BMP4, and FOXC1 variants are not associated with primary open-angle glaucoma.

scientific article

Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies

scientific article

Common polymorphisms in SOCS3 are not associated with body weight, insulin sensitivity or lipid profile in normal female twins

scientific article

Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction

scientific article

Common variation in the NOS1AP gene is associated with drug-induced QT prolongation and ventricular arrhythmia

scientific article published on 06 June 2012

Digenic inheritance of mutations in the cardiac troponin (TNNT2) and cardiac beta myosin heavy chain (MYH7) as the cause of severe dilated cardiomyopathy

scientific article published on 19 June 2017

Discovery of novel heart rate-associated loci using the Exome Chip

scientific article

Elite swimmers and the D allele of the ACE I/D polymorphism

scientific article published on 01 March 2001

Endurance enhancement related to the human angiotensin I-converting enzyme I-D polymorphism is not due to differences in the cardiorespiratory response to training

article

Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans

scientific article

Genetic and environmental influences on stability and change in baseline levels of C-reactive protein: A longitudinal twin study.

scientific article published on 31 August 2017

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

scientific article

Genetic determinants of the response to bezafibrate treatment in the lower extremity arterial disease event reduction (LEADER) trial.

scientific article published in July 2002

Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes

scientific article

Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes

scientific article (publication date: 2013)

Genome-wide association analysis identifies multiple loci related to resting heart rate

scientific article

Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits

scientific article published on 24 January 2019

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking

scientific article published on 14 October 2019

Heritability of QT interval: how much is explained by genes for resting heart rate?

scientific article published on 20 November 2007

Hypertrophic effects of urocortin homologous peptides are mediated via activation of the Akt pathway

scientific journal article

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

scientific article published on 14 April 2013

Insertion/deletion polymorphism of the angiotensin I-converting enzyme gene and arterial oxygen saturation at high altitude

article

Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study

scientific article

KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern

scientific article published on 05 December 2019

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

scientific article

Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels

scientific article

MicroRNA-153 targeting of KCNQ4 contributes to vascular dysfunction in hypertension

scientific article published on 7 July 2016

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction

scientific article published on 21 May 2020

Multiple roles of integrin-α3 at the neuromuscular junction

scientific article published on 6 April 2017

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

scientific article published on February 2017

Novel genes for QTc interval. How much heritability is explained, and how much is left to find?

scientific article

Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy

scientific article published on 16 September 2020

PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity

scientific article published in Nature Communications

Peroxisome proliferator--activated receptor alpha gene regulates left ventricular growth in response to exercise and hypertension

scientific article published in February 2002

Peroxisome proliferator-activated receptor alpha gene variants influence progression of coronary atherosclerosis and risk of coronary artery disease

scientific article published in March 2002

Phosphatidylinositol 3-kinase p85alpha regulatory subunit gene PIK3R1 haplotype is associated with body fat and serum leptin in a female twin population

scientific article

Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.

scientific article published on 17 February 2015

SHP-2 and PI3-kinase genes PTPN11 and PIK3R1 may influence serum apoB and LDL cholesterol levels in normal women

scientific article

Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium

scientific article

Signal-transduction pathways involved in the hypertrophic effect of hsp56 in neonatal cardiomyocytes

scientific article published in March 2004

The SH2B gene is associated with serum leptin and body fat in normal female twins.

scientific article

The age-dependency of genetic and environmental influences on serum cytokine levels: a twin study

scientific article published on 4 June 2012

The genetics of pro-arrhythmic adverse drug reactions.

scientific article published on April 2014

Tribal ethnicity and CYP2B6 genetics in Ugandan and Zimbabwean populations in the UK: implications for efavirenz dosing in HIV infection

scientific article

Undernutrition in adolescence and risk of cardiovascular disease

scholarly article by Yalda Jamshidi et al published 25 August 2011 in European Heart Journal

Variation in the PPARα gene is associated with altered function in vitro and plasma lipid concentrations in Type II diabetic subjects

article

Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease.

scientific article published on 13 February 2016

List of works by Yalda Jamshidi

52 Genetic Loci Influencing Myocardial Mass

A Comparison of Heritability Estimates by Classical Twin Modeling and Based on Genome-Wide Genetic Relatedness for Cardiac Conduction Traits

A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes

Analysis of enriched rare variants in JPH2-encoded junctophilin-2 among Greater Middle Eastern individuals reveals a novel homozygous variant associated with neonatal dilated cardiomyopathy.

B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.

Bi-allelic Loss of Human APC2, Encoding Adenomatous Polyposis Coli Protein 2, Leads to Lissencephaly, Subcortical Heterotopia, and Global Developmental Delay

Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

Biallelic MFSD2A variants associated with congenital microcephaly, developmental delay, and recognizable neuroimaging features

Cardiomyopathy with lethal arrhythmias associated with inactivation of KLHL24.

Characterization of the human PPARalpha promoter: identification of a functional nuclear receptor response element

Coagulation Gene Expression Profiling in Infants With Necrotizing Enterocolitis

Common STAT3 variants are not associated with obesity or insulin resistance in female twins

Common TGFβ2, BMP4, and FOXC1 variants are not associated with primary open-angle glaucoma.

Common genetic variation near the phospholamban gene is associated with cardiac repolarisation: meta-analysis of three genome-wide association studies

Common polymorphisms in SOCS3 are not associated with body weight, insulin sensitivity or lipid profile in normal female twins

Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction

Common variation in the NOS1AP gene is associated with drug-induced QT prolongation and ventricular arrhythmia

Digenic inheritance of mutations in the cardiac troponin (TNNT2) and cardiac beta myosin heavy chain (MYH7) as the cause of severe dilated cardiomyopathy

Discovery of novel heart rate-associated loci using the Exome Chip

Elite swimmers and the D allele of the ACE I/D polymorphism

Endurance enhancement related to the human angiotensin I-converting enzyme I-D polymorphism is not due to differences in the cardiorespiratory response to training

Fine-mapping, novel loci identification, and SNP association transferability in a genome-wide association study of QRS duration in African Americans

Genetic and environmental influences on stability and change in baseline levels of C-reactive protein: A longitudinal twin study.

Genetic association study of QT interval highlights role for calcium signaling pathways in myocardial repolarization

Genetic determinants of the response to bezafibrate treatment in the lower extremity arterial disease event reduction (LEADER) trial.

Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes

Genome wide analysis of drug-induced torsades de pointes: lack of common variants with large effect sizes

Genome-wide association analysis identifies multiple loci related to resting heart rate

Genome-wide association meta-analysis of 30,000 samples identifies seven novel loci for quantitative ECG traits

Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking

Heritability of QT interval: how much is explained by genes for resting heart rate?

Hypertrophic effects of urocortin homologous peptides are mediated via activation of the Akt pathway

Identification of heart rate-associated loci and their effects on cardiac conduction and rhythm disorders

Insertion/deletion polymorphism of the angiotensin I-converting enzyme gene and arterial oxygen saturation at high altitude

Investigating the Causal Relationship of C-Reactive Protein with 32 Complex Somatic and Psychiatric Outcomes: A Large-Scale Cross-Consortium Mendelian Randomization Study

KCND3 potassium channel gene variant confers susceptibility to electrocardiographic early repolarization pattern

Meta-analysis of Dense Genecentric Association Studies Reveals Common and Uncommon Variants Associated with Height

Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels

MicroRNA-153 targeting of KCNQ4 contributes to vascular dysfunction in hypertension

Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction

Multiple roles of integrin-α3 at the neuromuscular junction

Mutations in INPP5K Cause a Form of Congenital Muscular Dystrophy Overlapping Marinesco-Sjögren Syndrome and Dystroglycanopathy

Novel genes for QTc interval. How much heritability is explained, and how much is left to find?

Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy

PR interval genome-wide association meta-analysis identifies 50 loci associated with atrial and atrioventricular electrical activity

Peroxisome proliferator--activated receptor alpha gene regulates left ventricular growth in response to exercise and hypertension

Peroxisome proliferator-activated receptor alpha gene variants influence progression of coronary atherosclerosis and risk of coronary artery disease

Phosphatidylinositol 3-kinase p85alpha regulatory subunit gene PIK3R1 haplotype is associated with body fat and serum leptin in a female twin population

Role of common and rare variants in SCN10A: results from the Brugada syndrome QRS locus gene discovery collaborative study.

SHP-2 and PI3-kinase genes PTPN11 and PIK3R1 may influence serum apoB and LDL cholesterol levels in normal women

Sequencing of SCN5A identifies rare and common variants associated with cardiac conduction: Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium

Signal-transduction pathways involved in the hypertrophic effect of hsp56 in neonatal cardiomyocytes

The SH2B gene is associated with serum leptin and body fat in normal female twins.

The age-dependency of genetic and environmental influences on serum cytokine levels: a twin study

The genetics of pro-arrhythmic adverse drug reactions.

Tribal ethnicity and CYP2B6 genetics in Ugandan and Zimbabwean populations in the UK: implications for efavirenz dosing in HIV infection

Undernutrition in adolescence and risk of cardiovascular disease

Variation in the PPARα gene is associated with altered function in vitro and plasma lipid concentrations in Type II diabetic subjects

Whole exome sequence analysis reveals a homozygous mutation in PNPLA2 as the cause of severe dilated cardiomyopathy secondary to neutral lipid storage disease.