Masoud Edizadeh

Ankara, Turkey

Last Updated: 09/26/2026

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Found 12 publications

Diagnostic Yield of Genome Sequencing in an Iranian Exome-Negative Autosomal-Recessive Intellectual Disability Cohort.

Diagnostic Yield of Genome Sequencing in an Iranian Exome-Negative Autosomal-Recessive Intellectual Disability Cohort.

Journal: Human mutation
Published: January 06, 2026

Combining re-evaluation and new exome sequencing to identify novel genetic variants and candidate genes in Iranian families with non-syndromic hearing loss.

Combining re-evaluation and new exome sequencing to identify novel genetic variants and candidate genes in Iranian families with non-syndromic hearing loss.

Journal: Molecular biology reports
Published: September 03, 2025

Haplogroup Structure and Genetic Variation Analyses of Mitochondrial Genome SNPs in the Iranian Population.

Haplogroup Structure and Genetic Variation Analyses of Mitochondrial Genome SNPs in the Iranian Population.

Journal: Archives of Iranian medicine
Published: December 11, 2024

Improved Diagnostic Yield in Recessive Intellectual Disability Utilizing Systematic Whole Exome Sequencing Data Reanalysis.

Improved Diagnostic Yield in Recessive Intellectual Disability Utilizing Systematic Whole Exome Sequencing Data Reanalysis.

Journal: Clinical genetics
Published: October 27, 2024

A Frameshift Variant in ANKRD24 Implicates Its Role in Human Non-Syndromic Hearing Loss.

A Frameshift Variant in ANKRD24 Implicates Its Role in Human Non-Syndromic Hearing Loss.

Journal: Clinical genetics
Published: September 11, 2024

A Village in the Southeastern Region of Iran Harboring the c.716T>A (p.Val239Asp) Mutation in SLC26A4.

A Village in the Southeastern Region of Iran Harboring the c.716T>A (p.Val239Asp) Mutation in SLC26A4.

Journal: Archives of Iranian medicine
Published: December 30, 2023

Eighth case of Li-Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype.

Eighth case of Li-Campeau syndrome in a Turkish patient caused by a novel pathogenic variant in UBR7 and expanding the phenotype.

Journal: American journal of medical genetics. Part A
Published: October 23, 2022

ALDH1A3-related congenital microphthalmia-8 due to a novel frameshift variant.

ALDH1A3-related congenital microphthalmia-8 due to a novel frameshift variant.

Journal: European journal of medical genetics
Published: September 01, 2022

Comprehensive analysis of circulating viral DNA in maternal plasma at population-scale using low-pass whole-genome sequencing.

Comprehensive analysis of circulating viral DNA in maternal plasma at population-scale using low-pass whole-genome sequencing.

Journal: Genomics
Published: June 29, 2022

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: April 05, 2022

A novel biallelic LMNB2 variant in a patient with progressive myoclonus epilepsy and ataxia: A case of laminopathy.

A novel biallelic LMNB2 variant in a patient with progressive myoclonus epilepsy and ataxia: A case of laminopathy.

Journal: Clinical case reports
Published: March 19, 2021

De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy.

De novo Mutation in CACNA1S Gene in a 20-Year-Old Man Diagnosed with Metabolic Myopathy.

Journal: Archives of Iranian medicine
Published: October 20, 2017
Showing 1-12 of 12

Last Updated: 09/26/2026