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Bi-allelic variants in OGDHL cause a neurodevelopmental spectrum disease featuring epilepsy, hearing loss, visual impairment, and ataxia.
Yap ZY, Efthymiou S, Seiffert S, Vargas Parra K, Lee S, Nasca A, Maroofian R, Schrauwen I, Pendziwiat M, Jung S, Bhoj E, Striano P, Mankad K, Vona B, Cuddapah S, Wagner A, Alvi JR, Davoudi-Dehaghani E, Fallah MS, Gannavarapu S, Lamperti C, Legati A, Murtaza BN, Nadeem MS, Rehman MU, Saeidi K, Salpietro V, von Spiczak S, Sandoval A, Zeinali S, Zeviani M, Reich A; SYNaPS Study Group; University of Washington Center for Mendelian Genomics; Jang C, Helbig I, Barakat TS, Ghezzi D, Leal SM, Weber Y, Houlden H, Yoon WH. Yap ZY, et al. Among authors: fallah ms. Am J Hum Genet. 2021 Dec 2;108(12):2368-2384. doi: 10.1016/j.ajhg.2021.11.003. Epub 2021 Nov 19. Am J Hum Genet. 2021. PMID: 34800363 Free PMC article.
Heterogeneity of hemoglobin h disease in childhood.
Zeinali S, Fallah MS, Bagherian H. Zeinali S, et al. Among authors: fallah ms. N Engl J Med. 2011 May 26;364(21):2070-1; author reply 2071. doi: 10.1056/NEJMc1103406. N Engl J Med. 2011. PMID: 21612484 No abstract available.
Biallelic variants in TMEM222 cause a new autosomal recessive neurodevelopmental disorder.
Polla DL, Farazi Fard MA, Tabatabaei Z, Habibzadeh P, Levchenko OA, Nikuei P, Makrythanasis P, Hussain M, von Hardenberg S, Zeinali S, Fallah MS, Schuurs-Hoeijmakers JHM, Shahzad M, Fatima F, Fatima N, Kaat LD, Bruggenwirth HT, Fleming LR, Condie J, Ploski R, Pollak A, Pilch J, Demina NA, Chukhrova AL, Sergeeva VS, Venselaar H, Masri AT, Hamamy H, Santoni FA, Linda K, Ahmed ZM, Nadif Kasri N, de Brouwer APM, Bergmann AK, Hethey S, Yavarian M, Ansar M, Riazuddin S, Riazuddin S, Silawi M, Ruggeri G, Pirozzi F, Eftekhar E, Taghipour Sheshdeh A, Bahramjahan S, Mirzaa GM, Lavrov AV, Antonarakis SE, Faghihi MA, van Bokhoven H. Polla DL, et al. Among authors: fallah ms. Genet Med. 2021 Jul;23(7):1246-1254. doi: 10.1038/s41436-021-01133-w. Epub 2021 Apr 6. Genet Med. 2021. PMID: 33824500 Free PMC article.
Biallelic variants in MESD, which encodes a WNT-signaling-related protein, in four new families with recessively inherited osteogenesis imperfecta.
Tran TT, Keller RB, Guillemyn B, Pepin M, Corteville JE, Khatib S, Fallah MS, Zeinali S, Malfait F, Symoens S, Coucke P, Witters P, Levtchenko E, Bagherian H, Nickerson DA, Bamshad MJ, Chong JX; University of Washington Center for Mendelian Genomics; Byers PH. Tran TT, et al. Among authors: fallah ms. HGG Adv. 2021 Aug 20;2(4):100051. doi: 10.1016/j.xhgg.2021.100051. eCollection 2021 Oct 14. HGG Adv. 2021. PMID: 35047842 Free PMC article.
79 results