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Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Hochberg I, Demain LAM, Richer J, Thompson K, Urquhart JE, Rea A, Pagarkar W, Rodríguez-Palmero A, Schlüter A, Verdura E, Pujol A, Quijada-Fraile P, Amberger A, Deutschmann AJ, Demetz S, Gillespie M, Belyantseva IA, McMillan HJ, Barzik M, Beaman GM, Motha R, Ng KY, O'Sullivan J, Williams SG, Bhaskar SS, Lawrence IR, Jenkinson EM, Zambonin JL, Blumenfeld Z, Yalonetsky S, Oerum S, Rossmanith W; Genomics England Research Consortium; Yue WW, Zschocke J, Munro KJ, Battersby BJ, Friedman TB, Taylor RW, O'Keefe RT, Newman WG. Hochberg I, et al. Among authors: pagarkar w. Am J Hum Genet. 2021 Nov 4;108(11):2195-2204. doi: 10.1016/j.ajhg.2021.10.002. Epub 2021 Oct 28. Am J Hum Genet. 2021. PMID: 34715011 Free PMC article.
The audiovestibular profile of Brown-Vialetto-Van Laere syndrome.
Omar R, Rajput K, Sirimanna T, Rajput S, Pagarkar W. Omar R, et al. Among authors: pagarkar w. J Laryngol Otol. 2021 Nov;135(11):1000-1009. doi: 10.1017/S0022215121002395. Epub 2021 Sep 9. J Laryngol Otol. 2021. PMID: 34496984
Late postnatal onset of hearing loss due to GJB2 mutations.
Pagarkar W, Bitner-Glindzicz M, Knight J, Sirimanna T. Pagarkar W, et al. Int J Pediatr Otorhinolaryngol. 2006 Jun;70(6):1119-24. doi: 10.1016/j.ijporl.2005.10.026. Epub 2006 Feb 15. Int J Pediatr Otorhinolaryngol. 2006. PMID: 16469394
The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention.
Bryant D, Pauzuolyte V, Ingham NJ, Patel A, Pagarkar W, Anderson LA, Smith KE, Moulding DA, Leong YC, Jafree DJ, Long DA, Al-Yassin A, Steel KP, Jagger DJ, Forge A, Berger W, Sowden JC, Bitner-Glindzicz M. Bryant D, et al. Among authors: pagarkar w. JCI Insight. 2022 Feb 8;7(3):e148586. doi: 10.1172/jci.insight.148586. JCI Insight. 2022. PMID: 35132964 Free PMC article.
Consensus Statement of the Indian Academy of Pediatrics on Newborn Hearing Screening.
From National Consultation Meeting for Developing IAP Guidelines on Neurodevelopmental Disorders under the aegis of IAP Childhood Disability Group and the Committee on Child Development and Neurodevelopmental Disorders; Paul A, Prasad C, Kamath SS, Dalwai S, C Nair MK, Pagarkar W. From National Consultation Meeting for Developing IAP Guidelines on Neurodevelopmental Disorders under the aegis of IAP Childhood Disability Group and the Committee on Child Development and Neurodevelopmental Disorders, et al. Among authors: pagarkar w. Indian Pediatr. 2017 Aug 15;54(8):647-651. doi: 10.1007/s13312-017-1128-9. Epub 2017 Jun 4. Indian Pediatr. 2017. PMID: 28607211 Free article.
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