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BMC Medical Genomics|January 12, 2024
Comprehensive review and expanding the genetic landscape of Cornelia-de-Lange spectrum: insights from novel mutations and skin biopsy in exome-negative casesSahand Tehrani Fateh, Nadia Mohammad Zadeh, Shadab Salehpour, et al.
Heliyon|March 19, 2024
Identification of novel mutations in TPK1 and SLC19A3 genes in families exhibiting thiamine metabolism dysfunction syndromeFatemeh Norouzi Rostami, Hossein Sadeghi, Farzad Hashemi-Gorji, et al.
Iranian Journal of Child Neurology|May 2, 2022
Analysis of Cytogenetic Abnormalities in Iranian Patients with Syndromic Autism Spectrum Disorder: A Case SeriesMohammad Reza Ghasemi, Peyman Zargari, Hossein Sadeghi, et al.
JIMD Reports|August 1, 2025
Glycine N-Acyltransferase Deficiency due to a Homozygous Nonsense Variant in the GLYAT: A Novel Inborn Error of MetabolismMona Nourbakhsh, Mohammad Miryounesi, Ali Tale, et al.
Journal of Physical Activity & Health|September 22, 2019
Geographical Patterning of Physical Activity Prevalence in Iran: Spatial Analysis of 4 Pooled National Health Surveys Among 119,560 AdultsMohammad Sahebkar, Hamid Heidarian Miri, Pardis Noormohammadpour, et al.
BMC Medical Genomics|February 12, 2024
Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature reviewMohammad-Reza Ghasemi, Sahand Tehrani Fateh, Aysan Moeinafshar, et al.
BMC Medical Genomics|August 5, 2024
Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autismMohammad-Reza Ghasemi, Hossein Sadeghi, Farzad Hashemi-Gorji, et al.
American Journal of Medical Genetics. Part A|December 21, 2024
Novel Digital Anomalies, Hippocampal Atrophy, and Mutations Expand the Genotypic and Phenotypic Spectra of CNKSR2 in the Houge Type of X-Linked Syndromic Intellectual Development Disorder (MRXSHG)Mohammad-Reza Ghasemi, Sahand Tehrani Fateh, Afif Ben-Mahmoud, et al.
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