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Page 1
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: joshi a. 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
An Indian child with Coats plus syndrome due to mutations in STN1.
Passi GR, Shamim U, Rathore S, Joshi A, Mathur A, Parveen S, Sharma P, Crow YJ, Faruq M. Passi GR, et al. Among authors: joshi a. Am J Med Genet A. 2020 Sep;182(9):2139-2144. doi: 10.1002/ajmg.a.61737. Epub 2020 Jul 6. Am J Med Genet A. 2020. PMID: 32627942
A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.
Polavarapu K, Mathur A, Joshi A, Nashi S, Preethish-Kumar V, Bardhan M, Sharma P, Parveen S, Seth M, Vengalil S, Chawla T, Shingavi L, Shamim U, Nayak S, Vivekanand A, Töpf A, Roos A, Horvath R, Lochmüller H, Nandeesh B, Arunachal G, Nalini A, Faruq M. Polavarapu K, et al. Among authors: joshi a. Neurogenetics. 2021 Oct;22(4):271-285. doi: 10.1007/s10048-021-00658-1. Epub 2021 Aug 1. Neurogenetics. 2021. PMID: 34333724
Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India.
Nashi S, Polavarapu K, Bardhan M, Anjanappa RM, Preethish-Kumar V, Vengalil S, Padmanabha H, Geetha TS, Prathyusha PV, Ramprasad V, Joshi A, Chawla T, Unnikrishnan G, Sharma P, Huddar A, Uppilli B, Thomas A, Baskar D, Mathew S, Menon D, Arunachal G, Faruq M, Thangaraj K, Nalini A. Nashi S, et al. Among authors: joshi a. Neurogenetics. 2023 Jan;24(1):43-53. doi: 10.1007/s10048-022-00707-3. Epub 2022 Dec 29. Neurogenetics. 2023. PMID: 36580222
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: joshi a. 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.
4,752 results