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NGS-driven molecular diagnosis of heterogeneous hereditary neurological disorders reveals novel and known variants in disease-causing genes.
Khan A, Tian S, Tariq M, Khan S, Safeer M, Ullah N, Akbar N, Javed I, Asif M, Ahmad I, Ullah S, Satti HS, Khan R, Naeem M, Ali M, Rendu J, Fauré J, Dieterich K, Latypova X, Baig SM, Malik NA, Zhang F, Khan TN, Liu C. Khan A, et al. Among authors: satti hs. Mol Genet Genomics. 2022 Nov;297(6):1601-1613. doi: 10.1007/s00438-022-01945-8. Epub 2022 Aug 24. Mol Genet Genomics. 2022. PMID: 36002593
A recurrent rare intronic variant in CAPN3 alters mRNA splicing and causes autosomal recessive limb-girdle muscular dystrophy-1 in three Pakistani pedigrees.
Khan K, Mehmood S, Liu C, Siddiqui M, Ahmad A, Faiz BY, Chioza BA, Baple EA, Ullah MI, Akram Z, Satti HS, Khan R, Harlalka GV, Jameel M, Akram T, Baig SM, Crosby AH, Hassan MJ, Zhang F, Davis EE, Khan TN. Khan K, et al. Among authors: satti hs. Am J Med Genet A. 2022 Feb;188(2):498-508. doi: 10.1002/ajmg.a.62545. Epub 2021 Oct 25. Am J Med Genet A. 2022. PMID: 34697879
Epidemiological, clinical and genetic characterization of aplastic anemia patients in Pakistan.
Akram Z, Ahmed P, Kajigaya S, Satti TM, Satti HS, Chaudhary QUN, Gutierrez-Rodrigues F, Ibanez PF, Feng X, Mahmood SK, Ghafoor T, Shahbaz N, Khan MA, Sultan A. Akram Z, et al. Among authors: satti tm, satti hs. Ann Hematol. 2019 Feb;98(2):301-312. doi: 10.1007/s00277-018-3542-z. Epub 2018 Nov 13. Ann Hematol. 2019. PMID: 30426156 Clinical Trial.
Epidemiology of aplastic anemia: a study of 1324 cases.
Ahmed P, Chaudhry QUN, Satti TM, Mahmood SK, Ghafoor T, Shahbaz N, Khan MA, Satti HS, Akram Z, Iftikhar R. Ahmed P, et al. Among authors: satti hs. Hematology. 2020 Dec;25(1):48-54. doi: 10.1080/16078454.2019.1711344. Hematology. 2020. PMID: 31906834
Outcome of Fludarabine-Based Conditioning in High-Risk Aplastic Anemia Patients Undergoing Matched Related Donor Transplantation: A Single-Center Study from Pakistan.
Chaudhry QUN, Iftikhar R, Satti TM, Mahmood SK, Ghafoor T, Shamshad GU, Farhan M, Shahbaz N, Khan MA, Khattak TA, Rehman J, Humayun S, Satti HS, Anwer F, Ahmed P. Chaudhry QUN, et al. Among authors: satti hs. Biol Blood Marrow Transplant. 2019 Dec;25(12):2375-2382. doi: 10.1016/j.bbmt.2019.07.029. Epub 2019 Aug 5. Biol Blood Marrow Transplant. 2019. PMID: 31394274 Free article.
Comparison of Conventional Cyclophosphamide versus Fludarabine-Based Conditioning in High-Risk Aplastic Anemia Patients Undergoing Matched-Related Donor Transplantation.
Iftikhar R, Chaudhry QUN, Satti TM, Mahmood SK, Ghafoor T, Shamshad GU, Shahbaz N, Khan MA, Khattak TA, Rehman J, Farhan M, Humayun S, Haq H, Naqvi SAA, Anwer F, Satti HS, Ahmed P. Iftikhar R, et al. Among authors: satti hs. Clin Hematol Int. 2020 May 18;2(2):82-91. doi: 10.2991/chi.d.200426.001. eCollection 2020 Jun. Clin Hematol Int. 2020. PMID: 34595447 Free PMC article.
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