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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: xiao r. Int J Neonatal Screen. 2020 Nov 13;6(4):89. doi: 10.3390/ijns6040089. Int J Neonatal Screen. 2020. PMID: 33202836 Free PMC article.
NMNAT1 mutations cause Leber congenital amaurosis.
Falk MJ, Zhang Q, Nakamaru-Ogiso E, Kannabiran C, Fonseca-Kelly Z, Chakarova C, Audo I, Mackay DS, Zeitz C, Borman AD, Staniszewska M, Shukla R, Palavalli L, Mohand-Said S, Waseem NH, Jalali S, Perin JC, Place E, Ostrovsky J, Xiao R, Bhattacharya SS, Consugar M, Webster AR, Sahel JA, Moore AT, Berson EL, Liu Q, Gai X, Pierce EA. Falk MJ, et al. Among authors: xiao r. Nat Genet. 2012 Sep;44(9):1040-5. doi: 10.1038/ng.2361. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842227 Free PMC article.
Radiographs in screening for sacroiliitis in children: what is the value?
Weiss PF, Xiao R, Brandon TG, Biko DM, Maksymowych WP, Lambert RG, Jaremko JL, Chauvin NA. Weiss PF, et al. Among authors: xiao r. Arthritis Res Ther. 2018 Jul 11;20(1):141. doi: 10.1186/s13075-018-1642-8. Arthritis Res Ther. 2018. PMID: 29996925 Free PMC article.
MRI of the Sacroiliac Joint in Healthy Children.
Chauvin NA, Xiao R, Brandon TG, Biko DM, Francavilla M, Khrichenko D, Weiss PF. Chauvin NA, et al. Among authors: xiao r. AJR Am J Roentgenol. 2019 Jun;212(6):1303-1309. doi: 10.2214/AJR.18.20708. Epub 2019 Apr 11. AJR Am J Roentgenol. 2019. PMID: 30973768
Pathogenic mtDNA variants, in particular single large-scale mtDNA deletions, are strongly associated with post-lingual onset sensorineural hearing loss in primary mitochondrial disease.
Elander J, McCormick EM, Värendh M, Stenfeldt K, Ganetzky RD, Goldstein A, Zolkipli-Cunningham Z, MacMullen LE, Xiao R, Falk MJ, Ehinger JK. Elander J, et al. Among authors: xiao r. Mol Genet Metab. 2022 Nov;137(3):230-238. doi: 10.1016/j.ymgme.2022.09.002. Epub 2022 Sep 19. Mol Genet Metab. 2022. PMID: 36182714 Free PMC article.
3,077 results