Specialty
Locations
Phoenix Children's Hospital - Thomas Campus
1920 E. Cambridge Ave.
Rosenberg Plaza
Phoenix, AZ 85006
United States
+–Education & Training
Board Certification
Medical School / Education
Residency
+–Research & Publications
Publications
Aljeaid D, Lombardo RC, Witte DP, Hopkin RJ. A novel pathogenic variant in OFD1 results in X-linked Joubert syndrome with orofaciodigital features and pituitary aplasia. Am J Med Genet A. 2019. 179(6): 1010-1014.
Suhrie K, Pajor NM, Ahlfield SK, Dawson DB, Dufendach KR, Kitzmiller JA, Leino D, Lombardo RC, Smolarek TA, Rathbun PA, Whitsett JA, Towe C, Wikenheiser-Brokamp KA. Neonatal lung disease associated with TBX4 mutations. J Pediatr. 2019. 206:286-292.
Stevens CA, Hogue JS, Hopkin RJ, Lombardo RC, Vergano S. Congenital lumbar hernia- a feature of diabetic embryopathy? Am J Med Genet A. 2018.176(11):2243-2249.
Lombardo RC, Porollo A, Cnota JF, Hopkin RJ. Congenital heart disease and aortic arch variants associated with mutation in PHOX2B. Genet Med. 2018. Dec;20(12) 1538-1543.
Gupta A, Dsouza NR, Zarate YA, Lombardo R, Hopkin R, Linehan AR, Simpson J, McCarrier J, Agre KE, Gavrilova RH, Stephens MC, Grothe RM, Mohaghan KG, Xie Y, Basel D, Urrutia RA, Cole CR, Klee EW, Zimmerman MT. Genetic variants in DGAT1 cause diverse clinical presentations of malnutrition through a specific molecular mechanism. Eu J Med Genet. 2019