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Biallelic truncating mutations in FMN2, encoding the actin-regulatory protein Formin 2, cause nonsyndromic autosomal-recessive intellectual disability.
Law R, Dixon-Salazar T, Jerber J, Cai N, Abbasi AA, Zaki MS, Mittal K, Gabriel SB, Rafiq MA, Khan V, Nguyen M, Ali G, Copeland B, Scott E, Vasli N, Mikhailov A, Khan MN, Andrade DM, Ayaz M, Ansar M, Ayub M, Vincent JB, Gleeson JG. Law R, et al. Among authors: khan mn, khan v. Am J Hum Genet. 2014 Dec 4;95(6):721-8. doi: 10.1016/j.ajhg.2014.10.016. Am J Hum Genet. 2014. PMID: 25480035 Free PMC article.
Genetic causes of MCPH in consanguineous Pakistani families.
Kraemer N, Picker-Minh S, Abbasi AA, Fröhler S, Ninnemann O, Khan MN, Ali G, Chen W, Kaindl AM. Kraemer N, et al. Among authors: khan mn. Clin Genet. 2016 Jun;89(6):744-5. doi: 10.1111/cge.12685. Epub 2015 Nov 8. Clin Genet. 2016. PMID: 26548919 No abstract available.
Identification of a novel homozygous TRAPPC9 gene mutation causing non-syndromic intellectual disability, speech disorder, and secondary microcephaly.
Abbasi AA, Blaesius K, Hu H, Latif Z, Picker-Minh S, Khan MN, Farooq S, Khan MA, Kaindl AM. Abbasi AA, et al. Among authors: khan ma, khan mn. Am J Med Genet B Neuropsychiatr Genet. 2017 Dec;174(8):839-845. doi: 10.1002/ajmg.b.32602. Epub 2017 Oct 14. Am J Med Genet B Neuropsychiatr Genet. 2017. PMID: 29031008
Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.
Latif Z, Chakchouk I, Schrauwen I, Lee K, Santos-Cortez RLP, Abbe I, Acharya A, Jarral A, Ali I, Ullah E, Khan MN, Ali G, Tahir TH, Bamshad MJ, Nickerson DA, Ahmad W, Ansar M, Leal SM; University of Washington Center for Mendelian Genomics (UWCMG) Study Group. Latif Z, et al. Among authors: khan mn. Invest Ophthalmol Vis Sci. 2018 Sep 4;59(11):4552-4557. doi: 10.1167/iovs.18-23849. Invest Ophthalmol Vis Sci. 2018. PMID: 30208423 Free PMC article.
1,039 results