• Ferreira CR, Ziegler SG, Gupta A, Groden C, Hsu KS, Gahl WA. Treatment of hypophosphatemic rickets in generalized arterial calcification of infancy (GACI) without worsening of vascular calcification. American Journal of Medical Genetics part A. 2016;170A(5):1308-1311. PMCID: PMC4833596.
• Ziegler SG, Ferreira CR, MacFarlane EG, Riddle RC, Tomlinson RE, Chew EY, Martin L, Ma CT, Sergienko E, Pinkerton AB, Millán JL, Gahl WA, Dietz HC. Ectopic calcification in pseudoxanthoma elasticum responds to inhibition of tissue-nonspecific alkaline phosphatase. Science Translational Medicine. 2017;9(393):eaal1669. PMCID: PMC5606141.
• Florenzano P, Ferreira CR, Nesterova G, Roberts MS, Tella SH, de Castro LF, Brown SM, Whitaker A, Pereira RC, Bulas D, Gafni RI, Salusky IB, Gahl WA, Collins MT. Skeletal consequences of nephropathic cystinosis. Journal of Bone and Mineral Research. 2018;33(10):1870-1880. PMID: 29905968.
• Ferreira CR, Xia ZJ, Clément A, Parry DA, Davids M, Taylan F, Sharma P, Turgeon CT, Blanco-Sánchez B, Ng BG, Logan CV, Wolfe LA, Solomon BD, Cho MT, Douglas G, Carvalho DR, Bratke H, Haug MG, Phillips JB, Wegner J, Tiemeyer M, Aoki K; Undiagnosed Diseases Network; Scottish Genome Partnership, Nordgren A, Hammarsjö A, Duker AL, Rohena L, Hove HB, Ek J, Adams D, Tifft CJ, Onyekweli T, Weixel T, Macnamara E, Radtke K, Powis Z, Earl D, Gabriel M, Russi AHS, Brick L, Kozenko M, Tham E, Raymond KM, Phillips JA 3rd, Tiller GE, Wilson WG, Hamid R, Malicdan MCV, Nishimura G, Grigelioniene G, Jackson A, Westerfield M, Bober MB, Gahl WA, Freeze HH. A recurrent de novo heterozygous COG4 substitution leads to Saul-Wilson syndrome, disrupted vesicular trafficking, and altered proteoglycan glycosylation. American Journal of Human Genetics. 2018;103(4):553-567. PMCID: PMC6174323.
• Knapp KM, Sullivan R, Murray J, Gimenez G, Arn P, D'Souza P, Gezdirici A, Wilson WG, Jackson AP, Ferreira CR, Bicknell LS. Linked-read genome sequencing identifies biallelic pathogenic variants in DONSON as a novel cause of Meier-Gorlin syndrome. Journal of Medical Genetics. 2020;57(3):195-202. PMCID: PMC7042968.
• Ferreira CR, Regier DS, Yoon R, Pan KS, Johnston JM, Yang S, Spranger JW, Tifft CJ. The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention. Bone. 2020;131:115142. PMCID: PMC6937522.
• Ferreira CR, Zein WM, Huryn LA, Merker A, Berger SI, Wilson WG, Tiller GE, Wolfe LA, Merideth M, Carvalho DR, Duker AL, Bratke H, Haug MG, Rohena L, Hove HB, Xia ZJ, Ng BG, Freeze HH, Gabriel M, Russi AHS, Brick L, Kozenko M, Earl DL, Tham E, Nishimura G, Phillips JA 3rd, Gahl WA, Hamid R, Jackson AP, Grigelioniene G, Bober MB. Defining the clinical phenotype of Saul-Wilson syndrome. Genetics in Medicine. 2020;22(5):857-866. PMCID: PMC7205587.
• Ehmke N, Cusmano-Ozog K, Koenig R, Holtgrewe M, Nur B, Mihci E, Babcock H, Gonzaga-Jauregui C, Overton JD, Xiao J, Martinez A, Muenke M, Balzer A, Jochim J, El Choubassi N, Fischer-Zirnsak B, Huber C, Kornak U, Elsea S, Cormier-Daire V, Ferreira CR. Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism. Bone. 2020;133:115219. PMCID: PMC10521254. (Co-corresponding author)
• Florenzano P, Jimenez M, Ferreira CR, Nesterova G, Roberts MS, Harsha Tella S, Fernandez de Castro L, Gafni TI, Wolf M, Jüppner H, Gales B, Markovich D, Gahl WA, Salusky IB, Collins MT. Nephropathic cystinosis: a distinct form of CKD-mineral and bone disorder that provides novel insights into the regulation of FGF23. Journal of the American Society of Nephrology. 2020;31(9):2184-2192. PMCID: PMC7461669.
• Ferreira CR, Hackbarth ME, Ziegler SG, Pan KS, Roberts MS, Rosing DR, Whelpley MS, Bryant JC, Macnamara EF, Wang S, Müller K, Hartley I, Chew EY, Corden TE, Jacobsen CM, Holm IA, Rutsch F, Dikoglu E, Chen MY, Mughal Z, Levine MA, Gafni RI, Gahl WA. Prospective phenotyping of long-term survivors of Generalized Arterial Calcification of Infancy (GACI). Genetics in Medicine. 2021; 23(2):396-407. PMCID: PMC7867608.
• Ferreira CR, Kavanagh D, Oheim R, Zimmerman K, Stürznickel J, Li X, Stabach P, Luke RL, Calderone L, MacKichan C, Wang A, Hutchinson HA, Nelson T, Tommassini SM, Busse B, von Kroge S, Fiedler IAK, Moeckel GW, Carpenter TO, Levine MA, Horwowitz MC, Braddock DT. Response of the ENPP1-deficient skeletal phenotype to oral phosphate supplementation and/or enzyme replacement therapy: Comparative studies in humans and mice. Journal of Bone and Mineral Research. 2021;36(5):942-955. PMCID: PMC8739051.
• Ferreira CR, Kintzinger K, Hackbarth ME, Botschen U, Nitschke Y, Mughal MZ, Baujat G, Schnabel D, Yuen E, Gahl WA, Gafni RI, Liu Q, Huertas P, Khursigara G, Rutsch F. Ectopic calcification and hypophosphatemic rickets: Natural history of ENPP1 and ABCC6 deficiencies. Journal of Bone and Mineral Research. 2021;36(11):2193-2202. PMCID: PMC8595532.
• Ferreira CR, Ansh J, Nester C, O’Brien C, Stabach P, Murtada S, Lester ER, Khursigara G, Molloy L, Braddock DT. Musculoskeletal comorbidities and quality of life in ENPP1-deficient adults and the response of enthesopathy to enzyme replacement therapy in murine models. Journal of Bone and Mineral Research. 2022;37(3):494-504. PMCID: PMC9667476.
• Chunn LM, Bissonnette J, Heinrich SV, Mercurio SA, Kiel M, Rutsch F, Ferreira CR. Estimation of ENPP1 deficiency genetic prevalence using a comprehensive literature review and population databases. Orphanet Journal of Rare Diseases. 2022;17(1):421. PMCID: PMC9717445.
• Unger S, Ferreira CR, Mortier GR, Ali H, Bertola DR, Calder A, Cohn DH, Cormier-Daire V, Girisha KM, Hall C, Krakow D, Makitie O, Mundlos S, Nishimura G, Robertson SP, Savarirayan R, Sillence D, Simon M, Sutton VR, Warman M, Superti-Furga A. Nosology of genetic skeletal disorders: 2023 update. American Journal of Medical Genetics part A. 2023;191(5):1164-1209. PMCID: PMC10081954.
• Ferrante E, Cudrici CD, Rashidi M, Fu YP, Huffstutler R, Carney K, Chen MY, St. Hilaire C, Smith K, Bagheri MH, Katz JD, Lederman RJ, Ferreira CR, Gahl WA, Boehm M, Brofferio A. Pilot study to evaluate the safety and effectiveness of etidronate treatment for Arterial Calcifications due to Deficiency in CD73 (ACDC). Vascular Medicine. 2024;29(3):245-255. PMCID: PMC11608424.
• Ansh AJ, Stabach PR, Ciccone C, Cao W, De La Cruz EM, Sabbagh Y, Carpenter TO, Ferreira CR, Braddock DT. Quantitative correlation of ENPP1 pathogenic variants with disease phenotype. Bone. 2024;186:117136. PMCID: PMC11227391.
• Ferreira CR, Carpenter TO, Braddock DT. ENPP1 in blood and bone: Skeletal and soft tissue diseases induced by ENPP1 deficiency. Annual Review of Pathology: Mechanisms of Disease. 2024;19:507-540. PMCID: PMC11062289.

A comprehensive listing of Dr. Ferreira’s and the lab's publications can be found on https://www.ncbi.nlm.nih.gov/myncbi/1Reb5MHLwvOQI/bibliography/public/.