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Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3.
Nair D, Li D, Erdogan H, Yoon A, Harr MH, Bergant G, Peterlin B, Škrjanec Pušenjak M, Jayakar P, Pfundt R, Jansen S, McWalter K, Sidhu A, Saliganan S, Agolini E, Jacob A, Pasquier J, Arash R, Kahrizi K, Najmabadi H, Ropers HH, Bhoj EJ. Nair D, et al. Among authors: ropers hh. HGG Adv. 2021 Jan 21;2(2):100024. doi: 10.1016/j.xhgg.2021.100024. eCollection 2021 Apr 8. HGG Adv. 2021. PMID: 35047834 Free PMC article.
Erratum: Discovery of a neuromuscular syndrome caused by biallelic variants in ASCC3.
Nair D, Li D, Erdogan H, Yoon A, Harr MH, Bergant G, Peterlin B, Pušenjak MŠ, Jayakar P, Pfundt R, Jansen S, McWalter K, Sidhu A, Saliganan S, Agolini E, Jacob A, Pasquier J, Arash R, Kahrizi K, Najmabadi H, Ropers HH, Bhoj EJ. Nair D, et al. Among authors: ropers hh. HGG Adv. 2022 Jul 12;3(4):100122. doi: 10.1016/j.xhgg.2022.100122. eCollection 2022 Oct 13. HGG Adv. 2022. PMID: 35860725 Free PMC article.
Missense variants in AIMP1 gene are implicated in autosomal recessive intellectual disability without neurodegeneration.
Iqbal Z, Püttmann L, Musante L, Razzaq A, Zahoor MY, Hu H, Wienker TF, Garshasbi M, Fattahi Z, Gilissen C, Vissers LE, de Brouwer AP, Veltman JA, Pfundt R, Najmabadi H, Ropers HH, Riazuddin S, Kahrizi K, van Bokhoven H. Iqbal Z, et al. Among authors: ropers hh. Eur J Hum Genet. 2016 Mar;24(3):392-9. doi: 10.1038/ejhg.2015.148. Epub 2015 Jul 15. Eur J Hum Genet. 2016. PMID: 26173967 Free PMC article.
Homozygous variants in the gene SCAPER cause syndromic intellectual disability.
Kahrizi K, Huber M, Galetzka D, Dewi S, Schröder J, Weis E, Kariminejad A, Fattahi Z, Ropers HH, Schweiger S, Najmabadi H, Winter J. Kahrizi K, et al. Among authors: ropers hh. Am J Med Genet A. 2019 Jul;179(7):1214-1225. doi: 10.1002/ajmg.a.61172. Epub 2019 May 9. Am J Med Genet A. 2019. PMID: 31069901
Biallelic missense variants in ZBTB11 can cause intellectual disability in humans.
Fattahi Z, Sheikh TI, Musante L, Rasheed M, Taskiran II, Harripaul R, Hu H, Kazeminasab S, Alam MR, Hosseini M, Larti F, Ghaderi Z, Celik A, Ayub M, Ansar M, Haddadi M, Wienker TF, Ropers HH, Kahrizi K, Vincent JB, Najmabadi H. Fattahi Z, et al. Among authors: ropers hh. Hum Mol Genet. 2018 Sep 15;27(18):3177-3188. doi: 10.1093/hmg/ddy220. Hum Mol Genet. 2018. PMID: 29893856
A defect in the TUSC3 gene is associated with autosomal recessive mental retardation.
Garshasbi M, Hadavi V, Habibi H, Kahrizi K, Kariminejad R, Behjati F, Tzschach A, Najmabadi H, Ropers HH, Kuss AW. Garshasbi M, et al. Among authors: ropers hh. Am J Hum Genet. 2008 May;82(5):1158-64. doi: 10.1016/j.ajhg.2008.03.018. Epub 2008 May 1. Am J Hum Genet. 2008. PMID: 18452889 Free PMC article.
427 results