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Page 1
Genetics of 67 patients of suspected primary ciliary dyskinesia from India.
Jat KR, Faruq M, Jindal S, Bari S, Soni A, Sharma P, Mathews S, Shamim U, Ahuja V, Uppilli B, Yadav SC, Lodha R, Arava SK, Kabra SK. Jat KR, et al. Among authors: uppilli b. Clin Genet. 2024 Nov;106(5):650-658. doi: 10.1111/cge.14590. Epub 2024 Jul 14. Clin Genet. 2024. PMID: 39004944
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: uppilli b. Neurogenetics. 2023 Jan;24(1):43-53. doi: 10.1007/s10048-022-00707-3. Epub 2022 Dec 29. Neurogenetics. 2023. PMID: 36580222
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: uppilli b. Hum Mutat. 2020 Nov;41(11):1833-1847. doi: 10.1002/humu.24102. Epub 2020 Sep 9. Hum Mutat. 2020. PMID: 32906206
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: uppilli b. 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
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.