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Journal of Applied Genetics|January 23, 2025
Genetic etiology of Perrault syndrome in Iranian families: first report from Iran and literature reviewEbrahim Shokouhian, Kimia Kahrizi, Hossein Najmabadi, et al.
Clinical Genetics|August 28, 2025
FSCN1 as a Candidate Gene for Syndromic Intellectual Disability? Evidence From a Recurrent Variant in an Iranian CohortHossein Najmabadi, Tara Akhtarkhavari, Ebrahim Shokouhian, et al.
Molecular Genetics & Genomic Medicine|March 19, 2023
Identification of a homozygous frameshift mutation in the FGF3 gene in a consanguineous Iranian family: First report of labyrinthine aplasia, microtia, and microdontia syndrome in Iran and literature reviewFereshteh Jamshidi, Ebrahim Shokouhian, Marzieh Mohseni, et al.
Archives of Iranian Medicine|August 31, 2025
Investigation of the Clinical and Genetic Spectrum of PMM2-CDG: Insights from a Family with a Novel Variant and Previous StudiesParnian Alagha, Tara Akhtarkhavari, Ebrahim Shokouhian, et al.
Clinical Genetics|October 22, 2024
A Frameshift Variant in ANKRD24 Implicates Its Role in Human Non-Syndromic Hearing LossNegar Kazemi, Raziye Rezvani Rezvandeh, Farzane Zare Ashrafi, et al.
Molecular Biology Reports|December 18, 2025
Combining re-evaluation and new exome sequencing to identify novel genetic variants and candidate genes in Iranian families with non-syndromic hearing lossRaziye Rezvani Rezvandeh, Negar Kazemi, Farzane Zare Ashrafi, et al.
Clinical Genetics|January 3, 2025
Improved Diagnostic Yield in Recessive Intellectual Disability Utilizing Systematic Whole Exome Sequencing Data ReanalysisZohreh Fattahi, Ebrahim Shokouhian, Fatemeh Peymani, et al.
Human Mutation|July 2, 2026
Diagnostic Yield of Genome Sequencing in an Iranian Exome-Negative Autosomal-Recessive Intellectual Disability CohortEbrahim Shokouhian, Masoumeh Moslemi, Masoumeh Goleyjani Moghadam, et al.
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