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Biallelic cGMP-dependent type II protein kinase gene (PRKG2) variants cause a novel acromesomelic dysplasia.
Díaz-González F, Wadhwa S, Rodriguez-Zabala M, Kumar S, Aza-Carmona M, Sentchordi-Montané L, Alonso M, Ahmad I, Zahra S, Kumar D, Kushwah N, Shamim U, Sait H, Kapoor S, Roldán B, Nishimura G, Offiah AC, Faruq M, Heath KE. Díaz-González F, et al. Among authors: zahra s. J Med Genet. 2022 Jan;59(1):28-38. doi: 10.1136/jmedgenet-2020-107177. Epub 2020 Oct 26. J Med Genet. 2022. PMID: 33106379
C9orf72 hexanucleotide repeat expansion in Indian patients with ALS: a common founder and its geographical predilection.
Shamim U, Ambawat S, Singh J, Thomas A, Pradeep-Chandra-Reddy C, Suroliya V, Uppilli B, Parveen S, Sharma P, Chanchal S, Nashi S, Preethish-Kumar V, Vengalil S, Polavarapu K, Keerthipriya M, Mahajan NP, Reddy N, Thomas PT, Sadasivan A, Warrier M, Seth M, Zahra S, Mathur A, Vibha D, Srivastava AK, Nalini A, Faruq M. Shamim U, et al. Among authors: zahra s. Neurobiol Aging. 2020 Apr;88:156.e1-156.e9. doi: 10.1016/j.neurobiolaging.2019.12.024. Epub 2020 Jan 3. Neurobiol Aging. 2020. PMID: 32035847
Frequency spectrum of rare and clinically relevant markers in multiethnic Indian populations (ClinIndb): A resource for genomic medicine in India.
Narang A, Uppilli B, Vivekanand A, Naushin S, Yadav A, Singhal K, Shamim U, Sharma P, Zahra S, Mathur A, Seth M, Parveen S, Vats A, Hillman S, Dolma P, Varma B, Jain V; TRISUTRA Ayurgenomics Consortium; Prasher B, Sengupta S, Mukerji M, Faruq M. Narang A, et al. Among authors: zahra s. Hum Mutat. 2020 Nov;41(11):1833-1847. doi: 10.1002/humu.24102. Epub 2020 Sep 9. Hum Mutat. 2020. PMID: 32906206
Next Generation Sequencing and Cytogenetic Based Evaluation of Indian Pierre Robin Sequence Families Reveals CNV Regions of Modest Effect and a Novel LOXL3 Mutation.
Sood A, Shamim U, Kharbanda OP, Kabra M, Gupta N, Mathur A, Joshi A, Parveen S, Zahra S, Sharma P, Seth M, Khan A, Faruq M, Mishra D. Sood A, et al. Among authors: zahra s. Cleft Palate Craniofac J. 2022 Nov;59(11):1329-1339. doi: 10.1177/10556656211052781. Epub 2021 Nov 17. Cleft Palate Craniofac J. 2022. PMID: 34787502
Genetics of Ataxias in Indian Population: A Collative Insight from a Common Genetic Screening Tool.
Sharma P, Sonakar AK, Tyagi N, Suroliya V, Kumar M, Kutum R, Asokchandran V, Ambawat S, Shamim U, Anand A, Ahmad I, Shakya S, Uppili B, Mathur A, Parveen S, Jain S, Singh J, Seth M, Zahra S, Joshi A, Goel D, Sahni S, Kamai A, Wadhwa S, Murali A, Saifi S, Chowdhury D, Pandey S, Anand KS, Narasimhan RL, Laskar S, Kushwaha S, Kumar M, Shaji CV, Srivastava MVP, Srivastava AK, Faruq M; GOMED‐Ataxia study group. Sharma P, et al. Among authors: zahra s. Adv Genet (Hoboken). 2022 Mar 10;3(2):2100078. doi: 10.1002/ggn2.202100078. eCollection 2022 Jun. Adv Genet (Hoboken). 2022. PMID: 36618024 Free PMC article.
212 results