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Mitochondrial DNA haplogroups and age at onset of Machado-Joseph disease/spinocerebellar ataxia type 3: a study in patients from multiple populations.
Ramos A, Planchat M, Vieira Melo AR, Raposo M, Shamim U, Suroliya V, Srivastava AK, Faruq M, Morino H, Ohsawa R, Kawakami H, Bannach Jardim L, Saraiva-Pereira ML, Vasconcelos J, Santos C, Lima M. Ramos A, et al. Among authors: shamim u. Eur J Neurol. 2019 Mar;26(3):506-512. doi: 10.1111/ene.13860. Epub 2018 Dec 7. Eur J Neurol. 2019. PMID: 30414314
Genomics of rare genetic diseases-experiences from India.
GUaRDIAN Consortium; Sivasubbu S, Scaria V. GUaRDIAN Consortium, et al. Hum Genomics. 2019 Sep 25;14(1):52. doi: 10.1186/s40246-019-0215-5. Hum Genomics. 2019. PMID: 31554517 Free PMC article. Review.
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. 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
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: shamim u. 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
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: shamim u. Hum Mutat. 2020 Nov;41(11):1833-1847. doi: 10.1002/humu.24102. Epub 2020 Sep 9. Hum Mutat. 2020. PMID: 32906206
Genomic analysis of patients in a South Indian Community with autosomal dominant cortical tremor, myoclonus and epilepsy suggests a founder repeat expansion mutation in the SAMD12 gene.
Mahadevan R, Bhoyar RC, Viswanathan N, Rajagopal RE, Essaki B, Suroliya V, Chelladurai R, Sankaralingam S, Shanmugam G, Vayanakkan S, Shamim U, Mathur A, Jain A, Imran M, Faruq M, Scaria V, Sivasubbu S, Kalyanaraman S. Mahadevan R, et al. Among authors: shamim u. Brain Commun. 2020 Dec 19;3(1):fcaa214. doi: 10.1093/braincomms/fcaa214. eCollection 2021. Brain Commun. 2020. PMID: 33501421 Free PMC article.
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