Kiran Polavarapu

Postdoctoral Fellow

Email Kiran

Dr. Kiran Polavarapu completed his PhD in 2019 at the National Institute of Mental Health and Neurosciences (NIMHANS) in India. He is an M.B.B.S (Bachelor of Medicine and Bachelor of Surgery) graduate who shifted his focus to research in neuromuscular disorders and neurogenetics. His PhD work involved developing next generation sequencing (NGS)-based tests for detection of both copy number variations and point mutations in Duchenne Muscular Dystrophy. He further worked on analysing NGS data and genotype-phenotype correlations of various inherited neuromuscular disorders in India including Limb-Girgle Muscular Dystrophy, congenital myopathies, hereditary neuropathies, and Congenital Myasthenic Syndrome. He was part of a monthly neuromuscular disease specialty clinic run by Professor Atchayaram Nalini (neuromuscular specialist) at NIMHANS and was involved in clinical evaluation and genetic counselling of patients with inherited neuromuscular disorders. His research interest is in primary muscle disorders and neuromuscular genetics. He recently joined the Lochmüller Lab as a postdoctoral fellow and is looking forward to continuing research in neuromuscular genetics and Congenital Myathenic Syndrome.

kiran-polavarapu

Read more about Kiran

Google Scholar profile
LinkedIn profile

Recent publications

Baskar, D, Vengalil, S, Nashi, S, Bardhan, M, Srivatsava, K, Sanka, SB et al.. MYH2-related Myopathy: Expanding the Clinical Spectrum of Chronic Progressive External Ophthalmoplegia (CPEO). J Neuromuscul Dis. 2023. PMID:37154181

Unnikrishnan, G, Polavarapu, K, Bardhan, M, Nashi, S, Vengalil, S, Preethish-Kumar, V et al.. Phenotype Genotype Characterization of FKRP-related Muscular Dystrophy among Indian Patients. J Neuromuscul Dis. 2023. PMID:37154180

Yaldiz, B, Kucuk, E, Hampstead, J, Hofste, T, Pfundt, R, Corominas Galbany, J et al.. Twist exome capture allows for lower average sequence coverage in clinical exome sequencing. Hum Genomics. 2023.17 (1)39 PMID:37138343

Jackson, A, Lin, SJ, Jones, EA, Chandler, KE, Orr, D, Moss, C et al.. Clinical, genetic, epidemiologic, evolutionary, and functional delineation of TSPEAR-related autosomal recessive ectodermal dysplasia 14. HGG Adv. 2023.4 (2)100186 PMID:37009414

Hentschel, A, Meyer, N, Kohlschmidt, N, Groß, C, Sickmann, A, Schara-Schmidt, U et al.. Correction: A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function. Mol Neurobiol. 2023.60 (7)4164 PMID:36941504

Inbaraj, G, Arjun, K, Meghana, A, Preethish-Kumar, V, John, AP, Polavarapu, K et al.. Neuro-Cardio-Autonomic Modulations in Children with Duchenne Muscular Dystrophy. J Neuromuscul Dis. 2023.10 (2)227-238 PMID:36847014

Van Haute, L, O'Connor, E, Díaz-Maldonado, H, Munro, B, Polavarapu, K, Hock, DH et al.. TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease. Nat Commun. 2023.14 (1)1009 PMID:36823193

Hentschel, A, Meyer, N, Kohlschmidt, N, Groß, C, Sickmann, A, Schara-Schmidt, U et al.. A Homozygous PPP1R21 Splice Variant Associated with Severe Developmental Delay, Absence of Speech, and Muscle Weakness Leads to Activated Proteasome Function. Mol Neurobiol. 2023.60 (5)2602-2618 PMID:36692708

Denommé-Pichon, AS, Matalonga, L, de Boer, E, Jackson, A, Benetti, E, Banka, S et al.. A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing. Genet Med. 2023.25 (4)100018 PMID:36681873

Rodríguez Cruz, PM, Ravenscroft, G, Natera, D, Carr, A, Manzur, A, Liu, WW et al.. A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1. Neuromuscul Disord. 2023.33 (2)161-168 PMID:36634413

See more on PubMed