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Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Assia Batzir N, Kishor Bhagwat P, Larson A, Coban Akdemir Z, Bagłaj M, Bofferding L, Bosanko KB, Bouassida S, Callewaert B, Cannon A, Enchautegui Colon Y, Garnica AD, Harr MH, Heck S, Hurst ACE, Jhangiani SN, Isidor B, Littlejohn RO, Liu P, Magoulas P, Mar Fan H, Marom R, McLean S, Nezarati MM, Nugent KM, Petersen MB, Rocha ML, Roeder E, Smigiel R, Tully I, Weisfeld-Adams J, Wells KO; Baylor-Hopkins Center for Mendelian Genomics; Posey JE, Lupski JR, Beaudet AL, Wangler MF. Assia Batzir N, et al. Among authors: bofferding l. Hum Mutat. 2020 Mar;41(3):641-654. doi: 10.1002/humu.23960. Epub 2019 Dec 19. Hum Mutat. 2020. PMID: 31769566 Free PMC article.
Antiviral Drug-Resistance Typing Reveals Compartmentalization and Dynamics of Acyclovir-Resistant Herpes Simplex Virus Type-2 (HSV-2) in a Case of Neonatal Herpes.
Bache M, Andrei G, Bindl L, Bofferding L, Bottu J, Géron C, Neuhäuser C, Gillemot S, Fiten P, Opdenakker G, Snoeck R. Bache M, et al. Among authors: bofferding l. J Pediatric Infect Dis Soc. 2014 Jun;3(2):e24-7. doi: 10.1093/jpids/pit045. Epub 2013 Aug 8. J Pediatric Infect Dis Soc. 2014. PMID: 26625375