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Page 1
Congenital lumbar hernia-A feature of diabetic embryopathy?
Stevens CA, Hogue JS, Hopkin RJ, Lombardo RC, Schrier Vergano SA. Stevens CA, et al. Among authors: lombardo rc. Am J Med Genet A. 2018 Nov;176(11):2243-2249. doi: 10.1002/ajmg.a.40381. Epub 2018 Oct 1. Am J Med Genet A. 2018. PMID: 30276953
Variable phenotype in a novel mutation in PHOX2B.
Lombardo RC, Kramer E, Cnota JF, Sawnani H, Hopkin RJ. Lombardo RC, et al. Am J Med Genet A. 2017 Jun;173(6):1705-1709. doi: 10.1002/ajmg.a.38218. Epub 2017 Apr 19. Am J Med Genet A. 2017. PMID: 28422456
Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism.
Gupta A, Dsouza NR, Zarate YA, Lombardo R, Hopkin R, Linehan AR, Simpson J, McCarrier J, Agre KE, Gavrilova RH, Stephens MC, Grothe RM, Monaghan KG, Xie Y, Basel D, Urrutia RA, Cole CR, Klee EW, Zimmermann MT. Gupta A, et al. Eur J Med Genet. 2020 Apr;63(4):103817. doi: 10.1016/j.ejmg.2019.103817. Epub 2019 Nov 25. Eur J Med Genet. 2020. PMID: 31778854
Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13.
Russell BE, Whaley KG, Bove KE, Labilloy A, Lombardo RC, Hopkin RJ, Leslie ND, Prada C, Assouline Z, Barcia G, Bouchereau J, Chomton M, Debray D, Dorboz I, Durand P, Gaignard P, Habes D, Jardel C, Labarthe F, Lévy J, Lombès A, Mehler-Jacob C, Melki J, Menvielle L, Munnich A, Mussini C, Pichard S, Rio M, Rötig A, Sissaoui S, Slama A, Miethke AG, Schiff M. Russell BE, et al. Among authors: lombardo rc. Hepatology. 2019 Sep;70(3):1066-1070. doi: 10.1002/hep.30627. Epub 2019 May 16. Hepatology. 2019. PMID: 30912852 Review. No abstract available.
Neonatal Lung Disease Associated with TBX4 Mutations.
Suhrie K, Pajor NM, Ahlfeld SK, Dawson DB, Dufendach KR, Kitzmiller JA, Leino D, Lombardo RC, Smolarek TA, Rathbun PA, Whitsett JA, Towe C, Wikenheiser-Brokamp KA. Suhrie K, et al. Among authors: lombardo rc. J Pediatr. 2019 Mar;206:286-292.e1. doi: 10.1016/j.jpeds.2018.10.018. Epub 2018 Nov 7. J Pediatr. 2019. PMID: 30413314 Free PMC article.
A Jittery Newborn With an Abnormal Newborn Screen.
Cooper EE, Szumlas GA, Lombardo RC, Real FJ. Cooper EE, et al. Among authors: lombardo rc. Clin Pediatr (Phila). 2019 Oct;58(11-12):1354-1356. doi: 10.1177/0009922819868683. Epub 2019 Aug 12. Clin Pediatr (Phila). 2019. PMID: 31402696 No abstract available.
Planning and development of an antimicrobial stewardship program in penitentiary facilities: strategies to optimize therapeutic prescribing and reduce the incidence of antibiotic resistance.
Mazzoleni L, Zovi A, D'Angelo C, Borsino C, Cocco N, Lombardo RC, Ranieri R. Mazzoleni L, et al. Among authors: lombardo rc. Front Public Health. 2023 Oct 25;11:1233522. doi: 10.3389/fpubh.2023.1233522. eCollection 2023. Front Public Health. 2023. PMID: 37954056 Free PMC article.