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List of works by Javad Jamshidi

A Clinical and Molecular Genetic Study of 50 Families with Autosomal Recessive Parkinsonism Revealed Known and Novel Gene Mutations.

scientific article published on 13 May 2017

A cohort study protocol to analyze the predisposing factors to common chronic non-communicable diseases in rural areas: Fasa Cohort Study

scientific article

A genetic variant in CAMKK2 gene is possibly associated with increased risk of bipolar disorder.

scientific article published on 9 September 2015

A genetic variant in miRNA binding site of glutamate receptor 4, metabotropic (GRM4) is associated with increased risk of major depressive disorder.

scientific article published on 17 October 2016

A novel c.240_241insGG mutation in NDP gene in a family with Norrie disease.

scientific article

A novel mutation and variable phenotypic expression in a large consanguineous pedigree with Jalili syndrome.

scientific article published on 15 July 2016

A novel mutation in SMOC1 and variable phenotypic expression in two patients with Waardenburg anophthalmia syndrome

scientific article published on 11 August 2017

ATP2B1 rs2681472 and STK39 rs35929607 polymorphisms and risk of Hypertension in Iranian Population

scientific article published on 20 February 2018

Analysis of CYP17, CYP19 and CYP1A1 Gene Polymorphisms in Iranian Women with Breast Cancer.

scientific article

Association of ACE gene D polymorphism with left ventricular hypertrophy in patients with diastolic heart failure: a case-control study.

scientific article published on 9 February 2016

Association of renin-angiotensin-aldosterone system gene polymorphisms with left ventricular hypertrophy in patients with heart failure with preserved ejection fraction: A case-control study

scientific article published on 17 May 2017

Association of β-Secretase Functional Polymorphism with Risk of Schizophrenia.

scientific article

Biased homozygous haplotypes across the human caveolin 1 upstream purine complex in Parkinson's disease.

scientific article published on 4 May 2013

Bioinformatic tools to determine the pathogenicity of a missense mutation in PKHD1 in autosomal recessive polycystic kidney disease

scientific article published on 01 April 2017

Copy Number Variants in Patients with Autism and Additional Clinical Features: Report of VIPR2 Duplication and a Novel Microduplication Syndrome.

scientific article published on 28 October 2016

Detection of copy number changes in genes associated with Parkinson's disease in Iranian patients.

scientific article

Diverse phenotypic measurements of wellbeing: Heritability, temporal stability, and the variance explained by polygenic scores

scientific article published on 12 August 2020

Genetic Analysis of the ZNF512B, SLC41A1, and ALDH2 Polymorphisms in Parkinson's Disease in the Iranian Population.

scientific article published on 9 September 2016

HLA-DRA is associated with Parkinson's disease in Iranian population.

scientific article published on 15 October 2014

Incomplete penetrance of CRX gene for autosomal dominant form of cone-rod dystrophy

scientific article published on 19 June 2019

Omentin Val109Asp polymorphism and risk of coronary artery disease.

scientific article published on 8 March 2017

PTRHD1 (C2orf79) mutations lead to autosomal-recessive intellectual disability and parkinsonism

scientific article published on 18 October 2016

Phenotypic and genetic analysis of a wellbeing factor score in the UK Biobank and the impact of childhood maltreatment and psychiatric illness

scientific article published in 2022

Phenotypic and genotypic characterization of families with complex intellectual disability identified pathogenic genetic variations in known and novel disease genes

scientific article published on 22 January 2020

RAB7L1 promoter polymorphism and risk of Parkinson's disease; a case-control study.

scientific article

RIT2 Polymorphisms: Is There a Differential Association?

scientific article published on 3 March 2016

SIPA1L2, MIR4697, GCH1 and VPS13C loci and risk of Parkinson's diseases in Iranian population: A case-control study

scientific article published on 2 August 2016

SNAP-25 gene variations and attention-deficit hyperactivity disorder in Iranian population

scientific article published on 15 September 2016

The analysis of association between SNCA, HUSEYO and CSMD1 gene variants and Parkinson's disease in Iranian population

scientific article published on 05 January 2016

Variation in the miRNA-433 binding site of FGF20 is a risk factor for Parkinson's disease in Iranian population

scientific article published on 27 May 2015

c.376G>A mutation in WFS1 gene causes Wolfram syndrome without deafness.

scientific article

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