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Clinical Effectiveness of Telemedicine-Based Pediatric Genetics Care.
Szigety KM, Crowley TB, Gaiser KB, Chen EY, Priestley JRC, Williams LS, Rangu SA, Wright CM, Adusumalli P, Ahrens-Nicklas RC, Calderon B, Cuddapah SR, Edmondson A, Ficicioglu C, Ganetzky R, Kalish JM, Krantz ID, McDonald-McGinn DM, Medne L, Muraresku C, Pyle LC, Zackai EH, Campbell IM, Sheppard SE. Szigety KM, et al. Among authors: cuddapah sr. Pediatrics. 2022 Jul 1;150(1):e2021054520. doi: 10.1542/peds.2021-054520. Pediatrics. 2022. PMID: 35642503 Free PMC article.
Newborn Screening for Pompe Disease: Pennsylvania Experience.
Ficicioglu C, Ahrens-Nicklas RC, Barch J, Cuddapah SR, DiBoscio BS, DiPerna JC, Gordon PL, Henderson N, Menello C, Luongo N, Ortiz D, Xiao R. Ficicioglu C, et al. Among authors: cuddapah sr. Int J Neonatal Screen. 2020 Nov 13;6(4):89. doi: 10.3390/ijns6040089. Int J Neonatal Screen. 2020. PMID: 33202836 Free PMC article.
IRF6 Sequencing in Interrupted Clefting.
Cuddapah SR, Kominek S, Grant JH 3rd, Robin NH. Cuddapah SR, et al. Cleft Palate Craniofac J. 2016 May;53(3):373-6. doi: 10.1597/14-204. Epub 2015 Jun 19. Cleft Palate Craniofac J. 2016. PMID: 26090788
Malate dehydrogenase 2 deficiency is an emerging cause of pediatric epileptic encephalopathy with a recognizable biochemical signature.
Priestley JRC, Pace LM, Sen K, Aggarwal A, Alves CAPF, Campbell IM, Cuddapah SR, Engelhardt NM, Eskandar M, Jolín García PC, Gropman A, Helbig I, Hong X, Gowda VK, Lusk L, Trapane P, Srinivasan VM, Suwannarat P, Ganetzky RD. Priestley JRC, et al. Among authors: cuddapah sr. Mol Genet Metab Rep. 2022 Nov 16;33:100931. doi: 10.1016/j.ymgmr.2022.100931. eCollection 2022 Dec. Mol Genet Metab Rep. 2022. PMID: 36420423 Free PMC article.