Selected research

Publications

Selected publications co-authored by Dr Ghaffari in genomic diagnostics, inherited disease and prenatal screening.

Bibliography

Selected publications

50 journal publications are documented in the October 2026 CV. Selected papers appear below; the Google Scholar profile provides the broader publication record.

  1. 2023

    Archives of Dermatological Research

    Whole exome sequencing identifies novel pathogenic variants in TGM1 and ALOX12B in families with autosomal recessive congenital ichthyosis

    PMID: 38060040
    Research summary

    Whole-exome sequencing was used to investigate affected families with congenital ichthyosis. The study identified disease-causing variants in TGM1 and ALOX12B, expanding the known molecular spectrum and supporting family-specific diagnosis and counseling.

  2. 2022

    Human Mutation

    Molecular characterization of a large cohort of mucopolysaccharidosis patients: Iran Mucopolysaccharidosis RE-diagnosis study (IMPRESsion)

    PMID: 35005816
    Research summary

    This national cohort combined clinical, biochemical and genetic findings from 302 patients in 289 unrelated families. It documented the molecular diversity of MPS in Iran, including novel variants and copy-number changes, and showed the value of genetic reassessment for confirming or refining diagnoses.

  3. 2022

    Molecular Genetics & Genomic Medicine

    Identification of a novel de novo variant in OTX2 in a patient with congenital microphthalmia using targeted next-generation sequencing followed by prenatal diagnosis

    PMID: 34791963
    Research summary

    Targeted sequencing identified a new de novo OTX2 variant in a patient with congenital microphthalmia. The molecular result clarified the diagnosis and was subsequently used to inform prenatal testing in the family.

  4. 2019

    International Ophthalmology

    Rhodopsin gene mutation analysis in Iranian patients with autosomal dominant retinitis pigmentosa

    PMID: 30972525
    Research summary

    The study evaluated RHO variants in Iranian families with autosomal dominant retinitis pigmentosa. It added population-specific evidence to the genetic spectrum of inherited retinal disease and supported molecular diagnosis in affected families.

  5. 2014

    Studies in Health Technology and Informatics

    A method for semi-automatic nuchal translucency thickness measurement

    PMID: 24732528
    Research summary

    This work proposed an image-analysis method to assist measurement of fetal nuchal translucency. A segmentation algorithm and regression model were combined to identify the region and measurement direction, aiming to improve consistency in prenatal ultrasound assessment.

  6. 2013

    PLOS ONE

    Increasing the yield in targeted next-generation sequencing by implicating CNV analysis, non-coding exons and the overall variant load: the example of retinal dystrophies

    PMID: 24265693
    Research summary

    In 126 patients with inherited retinal dystrophies, the study extended targeted sequencing to include copy-number analysis and selected non-coding exons. This broader approach uncovered variants missed by conventional interpretation and achieved a high diagnostic yield.

All publications on PubMedGoogle Scholar