Rios JJ, Denton K, Russell J, Kozlitina J, Ferreira CR, Lewanda A, Mayfield JE, Moresco E,Ludwig S, Tang M, Li X, Lyon S, Xie X, Khanshour A, Paria N, Khalid A, Li Y, Feng J, Xu Q, Lu Y, Hammer R, Wise CA, Beutler B. Germline saturation mutagenesis induces new skeletal phenotypes in mice. Journal of Bone and Mineral Research. 2021 April 27 (online ahead of print).
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):942-95.
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.
Ziegler S, Gahl WA, Ferreira CR. Generalized Arterial Calcification of Infancy. 2020 Dec 30. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2014.
Boyce AM, Gafni RI, Ferreira CR. Generalized Arterial Calcification of Infancy: New insights, controversies, and approach to management. Current Osteoporosis Reports. 2020;18(3):232-41.
Cavalcanti DP, Fano V, Mellado C, Lacarrubba-Flores MDJ, Silveira C, Silveira KC, del Pino M, Moresco A, Caino S, Mejía RR, Bruce CG, Lay-Son GR, Ferreira CR. Skeletal dysplasias in Latin America. American Journal of Medical Genetics part C. 2020;184(4):986-995.
Ferreira CR, Niiler T, Duker AL, Jackson AP, Bober MB. Growth in individuals with Saul-Wilson syndrome. American Journal of Medical Genetics part A. 2020;182(9):2110-2116.
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.
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):2184-92 PMCID: PMC7461669
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.
Ferreira CR. Saul-Wilson syndrome 2020 Feb 20. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
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.
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, 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):553-67. PMCID: PMC6174323.
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):1870-80.
Ziegler SG, Gahl WA, Ferreira CR. Chapter 32: Disorders and mechanisms of ectopic calcification. In: Thakker RV, editor. Genetics of Bone Biology and Skeletal Disease; Second Edition. Academic Press; 2018.
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). PMCID: PMC5606141.
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):1308-11. PMCID: PMC4833596.