Shah AA - Search Results

1

Molecular Insights into the Role of Pathogenic nsSNPs in GRIN2B Gene Provoking Neurodevelopmental Disorders.

Shah AA, Amjad M, Hassan JU, Ullah A, Mahmood A, Deng H, Ali Y, Gul F, Xia K. Shah AA, et al. Genes (Basel). 2022 Jul 26;13(8):1332. doi: 10.3390/genes13081332. Genes (Basel). 2022. PMID: 35893069 Free PMC article.

2

Excess of RALGAPB de novo variants in neurodevelopmental disorders.

Shah AA, Zhang G, Li K, Liu C, Kanhar AA, Wang M, Quan Y, Wu H, Shen L, Khan R, Chen G, Ou J, Hu Z, Xia K, Guo H. Shah AA, et al. Eur J Med Genet. 2020 Nov;63(11):104041. doi: 10.1016/j.ejmg.2020.104041. Epub 2020 Aug 24. Eur J Med Genet. 2020. PMID: 32853829

3

Biallelic loss-of-function variants in NEMF cause central nervous system impairment and axonal polyneuropathy.

Ahmed A, Wang M, Bergant G, Maroofian R, Zhao R, Alfadhel M, Nashabat M, AlRifai MT, Eyaid W, Alswaid A, Beetz C, Qin Y, Zhu T, Tian Q, Xia L, Wu H, Shen L, Dong S, Yang X, Liu C, Ma L, Zhang Q, Khan R, Shah AA, Guo J, Tang B, Leonardis L, Writzl K, Peterlin B, Guo H, Malik S, Xia K, Hu Z. Ahmed A, et al. Among authors: shah aa. Hum Genet. 2021 Apr;140(4):579-592. doi: 10.1007/s00439-020-02226-3. Epub 2020 Oct 13. Hum Genet. 2021. PMID: 33048237

4

A splice-site variant (c.3289-1G>T) in OTOF underlies profound hearing loss in a Pakistani kindred.

Ahmed A, Wang M, Khan R, Shah AA, Guo H, Malik S, Xia K, Hu Z. Ahmed A, et al. Among authors: shah aa. BMC Med Genomics. 2021 Jan 4;14(1):2. doi: 10.1186/s12920-020-00859-x. BMC Med Genomics. 2021. PMID: 33397372 Free PMC article.

5

Recalling the pathology of Parkinson's disease; lacking exact figure of prevalence and genetic evidence in Asia with an alarming outcome: A time to step-up.

Mahmood A, Shah AA, Umair M, Wu Y, Khan A. Mahmood A, et al. Among authors: shah aa. Clin Genet. 2021 Dec;100(6):659-677. doi: 10.1111/cge.14019. Epub 2021 Jul 11. Clin Genet. 2021. PMID: 34195994 Review.

6

A novel biallelic variant in the Popeye domain-containing protein 1 (POPDC1) underlies limb girdle muscle dystrophy type 25.

Mahmood A, Samad A, Shah AA, Wadood A, Alkathiri A, Alshehri MA, Alam MZ, Hussain T, He P, Umair M. Mahmood A, et al. Among authors: shah aa. Clin Genet. 2023 Feb;103(2):219-225. doi: 10.1111/cge.14238. Epub 2022 Oct 17. Clin Genet. 2023. PMID: 36155908

7

Clinical and genetic characterization of patients segregating variants in KPTN, MINPP1, NGLY1, AP4B1, and SON underlying neurodevelopmental disorders: Genetic and phenotypic expansion.

Ullah A, Shah AA, Alluqmani M, Haider N, Aman H, Alfadhli F, Almatrafi AM, Albalawi AM, Krishin J, Ullah Khan F, Anjam BA, Abdullah, Lozano EP, Samad A, Ahmad W, Hansen T, Xia K, Basit S. Ullah A, et al. Among authors: shah aa. Int J Dev Neurosci. 2022 Dec;82(8):789-805. doi: 10.1002/jdn.10231. Epub 2022 Oct 11. Int J Dev Neurosci. 2022. PMID: 36181241

8

Comprehensive in-silico analysis of deleterious SNPs in APOC2 and APOA5 and their differential expression in cancer and cardiovascular diseases conditions.

Deng H, Li J, Shah AA, Ge L, Ouyang W. Deng H, et al. Among authors: shah aa. Genomics. 2023 Mar;115(2):110567. doi: 10.1016/j.ygeno.2023.110567. Epub 2023 Jan 20. Genomics. 2023. PMID: 36690263 Free article.

9

Molecular Dynamic Simulation Analysis of a Novel Missense Variant in CYB5R3 Gene in Patients with Methemoglobinemia.

Ullah A, Shah AA, Syed F, Mahmood A, Ur Rehman H, Khurshid B, Samad A, Ahmad W, Basit S. Ullah A, et al. Among authors: shah aa. Medicina (Kaunas). 2023 Feb 16;59(2):379. doi: 10.3390/medicina59020379. Medicina (Kaunas). 2023. PMID: 36837579 Free PMC article.

10

The deleterious variants of N-acetylgalactosamine-6-sulfatase (GalN6S) enzyme trigger Morquio a syndrome by disrupting protein foldings.

Li J, Khalid WA, Imtiaz H, Huang L, Ali Y, Yousaf R, Gul F, Mahmood A, Shah AA, Deng H, Khattak S. Li J, et al. Among authors: shah aa. J Biomol Struct Dyn. 2024 Apr;42(7):3700-3711. doi: 10.1080/07391102.2023.2214234. Epub 2023 May 24. J Biomol Struct Dyn. 2024. PMID: 37222604

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