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American Journal of Medical Genetics. Part A|December 10, 2021
Biallelic TERT variant leads to Hoyeraal-Hreidarsson syndrome with additional dyskeratosis congenita findingsEce Çepni, Nihan Bilge Satkın, Lia Abbasi Moheb, et al.Journal of Medical Case Reports|September 1, 2021
A novel mutation in ACADVL causing very long-chain acyl-coenzyme-A dehydrogenase deficiency in a South Asian pediatric patient: a case report and review of the literatureVisvalingam Arunath, Manoj Sanjeewa Liyanarachchi, Sundararajah Gajealan, et al.European Journal of Human Genetics : EJHG|November 29, 2007
Identification of a nonsense mutation in the very low-density lipoprotein receptor gene (VLDLR) in an Iranian family with dysequilibrium syndromeLia Abbasi Moheb, Andreas Tzschach, Masoud Garshasbi, et al.Clinical Genetics|December 23, 2020
Biallelic loss-of-function HACD1 variants are a bona fide cause of congenital myopathyLia Abbasi-Moheb, Ana Westenberger, Maha Alotaibi, et al.Journal of Human Genetics|November 27, 2019
A novel POC1A variant in an alternatively spliced exon causes classic SOFT syndrome: clinical presentation of seven patientsAdila Al-Kindi, Maryam Al-Shehhi, Ana Westenberger, et al.European Journal of Medical Genetics|April 14, 2009
Fragile X syndrome screening of families with consanguineous and non-consanguineous parents in the Iranian populationAli Reza Pouya, Seyedeh Sedigheh Abedini, Neda Mansoorian, et al.European Journal of Human Genetics : EJHG|February 17, 2018
Biallelic inactivating variants in the GTPBP2 gene cause a neurodevelopmental disorder with severe intellectual disabilityAida M Bertoli-Avella, Jose M Garcia-Aznar, Oliver Brandau, et al.American Journal of Human Genetics|May 1, 2012
Mutations in NSUN2 cause autosomal-recessive intellectual disabilityLia Abbasi-Moheb, Sara Mertel, Melanie Gonsior, et al.Human Genetics|November 11, 2010
Autosomal recessive mental retardation: homozygosity mapping identifies 27 single linkage intervals, at least 14 novel loci and several mutation hotspotsAndreas Walter Kuss, Masoud Garshasbi, Kimia Kahrizi, et al.Nature|September 23, 2011
Deep sequencing reveals 50 novel genes for recessive cognitive disordersHossein Najmabadi, Hao Hu, Masoud Garshasbi, et al.Pageof 1