| ۱ | A novel splice site variant of the BBS2 gene in a patient with Bardet-Biedl syndrome | Hasan Azizi -Mortaza Bonyadi - Abbas Rafat | Human Genome Variation | 2024-03-20 |
| ۲ | IDENTIFICATION AND BIOINFORMATICS ANALYSIS OF TWO NOVEL VARIANTS IN THE SEMA4A AND SCP2 GENES IN A PATIENT WITH EARLY-ONSET VISUAL IMPAIRMENT AND LEUKODYSTROPHY. | Hossein Ahmed Hashim - Morteza Bonyadi - Seyed Abbas Rafat | Journal of Population Therapeutics& Clinical Pharmacology | 2024-01-20 |
| ۳ | Identification and bioinformatics analysis of a novel mutation in PLA2G6 gene in a patient with neurodegenerative disorder | Sahand Mirzaei Dizaji- Amir Amandi - Morteza Bonyadi | Gene Reports | 2023-10-25 |
| ۴ | Identification of Two Novel Pathogenic Variants of the ATM Gene in the Iranian-Azeri Turkish Ethnic Group by Applying Whole Exome Sequencing | Amir Reza Dalal Amandi -Neda Jabbarpour-Shadi Shiva -Mortaza Bonyadi | current Genomics | 2023-10-20 |
| ۵ | A novel loss of function mutation in the PHD domain of the RAG2 gene, affecting zinc‑binding affinity | Neda Jabbarpour - Morteza Bonyadi - Leyla Sadeghi | Molecular Biology Reports | 2023-08-20 |
| ۶ | Identification of a de novo, Novel Pathogenic Variant in the Splice Region of the SOX10 Gene in an Iranian Azeri Turkish Family with Waardenburg Syndrome | Faranak Roudbari - Amir Amandi - Morteza Bonyadi - Leyla Sadeghi - Neda Jabbarpour | Molecular Syndromology | 2023-08-20 |
| ۷ | Identification of a novel mutation in the HACD1 gene in an Iranian family with autosomal recessive congenital myopathy, with fibre-type disproportion | Neda Jabbarpour - Bita Poorshiri - Hassan SaeiShow - Mohammad Barzegar - Morteza Bonyadi | Journal of Genetics | 2023-01-20 |
| ۸ | Spectrum of MECP2 mutations in Iranian Azeri Turkish Rett syndrome patients | Saba A. Nazm -Zohreh Jahanafrooz -Morteza Bonyadi -Noushin Masoudi -Zahra Nouri - Mohammad Barzegar | Neurology Asia | 2023 - 01- 23 |
| ۹ | Identification of novel cis-mutations in the GJA8 gene in a 3-generation Iranian family with autosomal dominant congenital nuclear cataract | Neda Jabbarpour - Hassan Saei - Mohammad hossein Jabbrpoor bonyadi - Morteza Bonyadi | Ophthalmic Genetics | 2022-06-20 |
| ۱۰ | Identification and bioinformatics analysis of a novel variant in the HERC2 gene in a patient with intellectual developmental disorder. | Asghari Sarfaraz A, Jabbarpour N, Bonyadi M, Khalaj-Kondory M. | J Neurogenet. | 17.06.2024 |