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Page 1
Novel Variants in Individuals with RYR1-Related Congenital Myopathies: Genetic, Laboratory, and Clinical Findings.
Todd JJ, Razaqyar MS, Witherspoon JW, Lawal TA, Mankodi A, Chrismer IC, Allen C, Meyer MD, Kuo A, Shelton MS, Amburgey K, Niyazov D, Fequiere P, Bönnemann CG, Dowling JJ, Meilleur KG. Todd JJ, et al. Among authors: niyazov d. Front Neurol. 2018 Mar 5;9:118. doi: 10.3389/fneur.2018.00118. eCollection 2018. Front Neurol. 2018. PMID: 29556213 Free PMC article.
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, Harlan De Crescenzo A, Kotzaeridou U, Syrbe S, Anagnostou E, Azage M, Bend R, Begtrup A, Brown NJ, Büttner B, Cho MT, Cooper GM, Doering JH, Dubourg C, Everman DB, Hildebrand MS, Santos FJR, Kellam B, Keller-Ramey J, Lemke JR, Liu S, Niyazov D, Payne K, Person R, Quélin C, Schnur RE, Smith BT, Strober J, Walker S, Wallis M, Walsh L, Yang S, Yuen RKC, Ziegler A, Sticht H, Pride MC, Orosco L, Martínez-Cerdeño V, Silverman JL, Crawley JN, Scherer SW, Zarbalis KS, Jamra R. Le Duc D, et al. Among authors: niyazov d. Brain. 2019 Sep 1;142(9):2617-2630. doi: 10.1093/brain/awz198. Brain. 2019. PMID: 31327001 Free PMC article.
Novel NUDT2 variant causes intellectual disability and polyneuropathy.
Diaz F, Khosa S, Niyazov D, Lee H, Person R, Morrow MM, Signer R, Dorrani N, Zheng A, Herzog M, Freundlich R; Undiagnosed Diseases Network; Birath JB, Cervantes-Manzo Y, Martinez-Agosto JA, Palmer C, Nelson SF, Fogel BL, Mishra SK. Diaz F, et al. Among authors: niyazov d. Ann Clin Transl Neurol. 2020 Nov;7(11):2320-2325. doi: 10.1002/acn3.51209. Epub 2020 Oct 15. Ann Clin Transl Neurol. 2020. PMID: 33058507 Free PMC article.
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Cali E, Suri M, Scala M, Ferla MP, Alavi S, Faqeih EA, Bijlsma EK, Wigby KM, Baralle D, Mehrjardi MYV, Schwab J, Platzer K, Steindl K, Hashem M, Jones M, Niyazov DM, Jacober J, Littlejohn RO, Weis D, Zadeh N, Rodan L, Goldenberg A, Lecoquierre F, Dutra-Clarke M, Horvath G, Young D, Orenstein N, Bawazeer S, Vulto-van Silfhout AT, Herenger Y, Dehghani M, Seyedhassani SM, Bahreini A, Nasab ME, Ercan-Sencicek AG, Firoozfar Z, Movahedinia M, Efthymiou S, Striano P, Karimiani EG, Salpietro V, Taylor JC, Redman M, Stegmann APA, Laner A, Abdel-Salam G, Li M, Bengala M, Müller AJ, Digilio MC, Rauch A, Gunel M, Titheradge H, Schweitzer DN, Kraus A, Valenzuela I, McLean SD, Phornphutkul C, Salih M, Begtrup A, Schnur RE, Torti E, Haack TB, Prada CE, Alkuraya FS, Houlden H, Maroofian R. Cali E, et al. Among authors: niyazov dm. Genet Med. 2023 Jan;25(1):135-142. doi: 10.1016/j.gim.2022.09.016. Epub 2022 Nov 18. Genet Med. 2023. PMID: 36399134 Free PMC article.
Confirming TDP2 mutation in spinocerebellar ataxia autosomal recessive 23 (SCAR23).
Zagnoli-Vieira G, Bruni F, Thompson K, He L, Walker S, de Brouwer APM, Taylor RW, Niyazov D, Caldecott KW. Zagnoli-Vieira G, et al. Among authors: niyazov d. Neurol Genet. 2018 Aug 1;4(4):e262. doi: 10.1212/NXG.0000000000000262. eCollection 2018 Aug. Neurol Genet. 2018. PMID: 30109272 Free PMC article.
A copy number variation morbidity map of developmental delay.
Cooper GM, Coe BP, Girirajan S, Rosenfeld JA, Vu TH, Baker C, Williams C, Stalker H, Hamid R, Hannig V, Abdel-Hamid H, Bader P, McCracken E, Niyazov D, Leppig K, Thiese H, Hummel M, Alexander N, Gorski J, Kussmann J, Shashi V, Johnson K, Rehder C, Ballif BC, Shaffer LG, Eichler EE. Cooper GM, et al. Among authors: niyazov d. Nat Genet. 2011 Aug 14;43(9):838-46. doi: 10.1038/ng.909. Nat Genet. 2011. PMID: 21841781 Free PMC article.
Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Girirajan S, Rosenfeld JA, Coe BP, Parikh S, Friedman N, Goldstein A, Filipink RA, McConnell JS, Angle B, Meschino WS, Nezarati MM, Asamoah A, Jackson KE, Gowans GC, Martin JA, Carmany EP, Stockton DW, Schnur RE, Penney LS, Martin DM, Raskin S, Leppig K, Thiese H, Smith R, Aberg E, Niyazov DM, Escobar LF, El-Khechen D, Johnson KD, Lebel RR, Siefkas K, Ball S, Shur N, McGuire M, Brasington CK, Spence JE, Martin LS, Clericuzio C, Ballif BC, Shaffer LG, Eichler EE. Girirajan S, et al. Among authors: niyazov dm. N Engl J Med. 2012 Oct 4;367(14):1321-31. doi: 10.1056/NEJMoa1200395. Epub 2012 Sep 12. N Engl J Med. 2012. PMID: 22970919 Free PMC article.
Mutations in SPATA5 Are Associated with Microcephaly, Intellectual Disability, Seizures, and Hearing Loss.
Tanaka AJ, Cho MT, Millan F, Juusola J, Retterer K, Joshi C, Niyazov D, Garnica A, Gratz E, Deardorff M, Wilkins A, Ortiz-Gonzalez X, Mathews K, Panzer K, Brilstra E, van Gassen KL, Volker-Touw CM, van Binsbergen E, Sobreira N, Hamosh A, McKnight D, Monaghan KG, Chung WK. Tanaka AJ, et al. Among authors: niyazov d. Am J Hum Genet. 2015 Sep 3;97(3):457-64. doi: 10.1016/j.ajhg.2015.07.014. Epub 2015 Aug 20. Am J Hum Genet. 2015. PMID: 26299366 Free PMC article.
The expanding clinical phenotype of Bosch-Boonstra-Schaaf optic atrophy syndrome: 20 new cases and possible genotype-phenotype correlations.
Chen CA, Bosch DG, Cho MT, Rosenfeld JA, Shinawi M, Lewis RA, Mann J, Jayakar P, Payne K, Walsh L, Moss T, Schreiber A, Schoonveld C, Monaghan KG, Elmslie F, Douglas G, Boonstra FN, Millan F, Cremers FP, McKnight D, Richard G, Juusola J, Kendall F, Ramsey K, Anyane-Yeboa K, Malkin E, Chung WK, Niyazov D, Pascual JM, Walkiewicz M, Veluchamy V, Li C, Hisama FM, de Vries BB, Schaaf C. Chen CA, et al. Among authors: niyazov d. Genet Med. 2016 Nov;18(11):1143-1150. doi: 10.1038/gim.2016.18. Epub 2016 Mar 17. Genet Med. 2016. PMID: 26986877 Free article.
49 results