Publications

Kwiatkowski J, Walters M, Locatelli F, Lal A, Evangelia Y, Kulozik A, Sauer M, Porter J, Thuret I, Hongeng S, Thrasher A, Olson TS, Schneiderman J, Elliot H, Tao G, Liu W, Colvin R, and Thompson A: LENTIGLOBIN GENE THERAPY IN PEDIATRICS, ADOLESCENTS, ADULTS WITHTRANSFUSION-DEPENDENT Β-THALASSEMIA American Society of Pediatric Hematology Oncology Annual Meeting Program (Abstract Published, meeting cancelled due to COVID-19) May 2020.

Al-Samkari H, van Beers EJ, Morton DH, Barcellini W, Eber SW, Glader B, Yaish HM, Chonat S, Kuo KHM, Kollmar N, Despotovic JM, Pospíšilová D, Knoll CM, Kwiatkowski JL, Pastore YD, Thompson AA, Wlodarski MW, Ravindranath Y, Rothman JA, Wang H, Holzhauer S, Breakey VR, Verhovsek MM, Kunz J, Sheth S, Sharma M, Rose MJ, Bradeen HA, McNaull MN, Addonizio K, Al-Sayegh H, London WB, Grace RF. Characterization of the severe phenotype of pyruvate kinase deficiency. Am J Hematol. 2020 Jul 3. doi: 10.1002/ajh.25926. Epub ahead of print. PMID: 32619047.

Al-Samkari H, Addonizio K, Glader B, Morton DH, Chonat S, Thompson AA, Kuo KHM, Ravindranath Y, Wang H, Rothman JA, Kwiatkowski JL, Kung C, Kosinski PA, Al-Sayegh H, London WB, Grace RF. The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency. Br J Haematol. 2020 May 28. doi: 10.1111/bjh.16724. Epub ahead of print. PMID: 32463523.

Tisdale JF, Pierciey FJ Jr, Bonner M, Thompson AA, Krishnamurti L, Mapara MY, Kwiatkowski JL, Shestopalov I, Ribeil JA, Huang W, Asmal M, Kanter J, Walters MC. Safety and feasibility of hematopoietic progenitor stem cell collection by mobilization with plerixafor followed by apheresis vs bone marrow harvest in patients with sickle cell disease in the multi-center HGB-206 trial. Am J Hematol. 2020 Sep;95(9):E239-E242. doi: 10.1002/ajh.25867. Epub 2020 Jun 3. PMID: 32401372.

Bianchi P, Fermo E, Lezon-Geyda K, van Beers EJ, Morton HD, Barcellini W, Glader B, Chonat S, Ravindranath Y, Newburger PE, Kollmar N, Despotovic JM, Verhovsek M, Sharma M, Kwiatkowski JL, Kuo KHM, Wlodarski MW, Yaish HM, Holzhauer S, Wang H, Kunz J, Addonizio K, Al-Sayegh H, London WB, Andres O, van Wijk R, Gallagher PG, Grace RFF. Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency. Am J Hematol. 2020 May;95(5):472-482. doi: 10.1002/ajh.25753. Epub 2020 Mar 6. PMID: 32043619.

Chou ST, Alsawas M, Fasano RM, Field JJ, Hendrickson JE, Howard J, Kameka M, Kwiatkowski JL, Pirenne F, Shi PA, Stowell SR, Thein SL, Westhoff CM, Wong TE, Akl EA. American Society of Hematology 2020 guidelines for sickle cell disease: transfusion support. Blood Adv. 2020 Jan 28;4(2):327-355. doi: 10.1182/bloodadvances.2019001143. PMID: 31985807; PMCID: PMC6988392.

Dong A., Ghiaccio V., Motta I., Guo S., Peralta R., Freier S.M., Watt A., Damle S., Ikawa Y., Jarocha D., Chappell M., Stephanou C., Delbini P., Chen C., Christou S., Kleanthous M., Smith-Whitley K., Manwani D., Casu C., Abdulmalik O., Cappellini M.D., Rivella S., and Breda L: 2'-O- methoxyethyl Splice-Switching Oligos Correct Splicing From IVS2-745 Beta-Thalassemia Patients Cells Restoring HbA Production and Chain Rebalance. Haematologica 2020. PMID: 32439726

Dougherty KA, Schall JI, Bertolaso C, Smith-Whitley K, Stallings VA. Vitamin D Supplementation Improves Health-Related Quality of Life and Physical Performance in Children with Sickle Cell Disease and in Healthy Children. J Pediatr Health Care. 2020 Sep-Oct;34(5):424-434. Epub 2020 Jun 5. PMID: 32507538.

Dong A, Ghiaccio V, Motta I, Guo S, Peralta R, Freier SM, Watt A, Damle S, Ikawa Y, Jarocha D, Chappell M, Stephanou C, Delbini P, Chen C, Christou S, Kleanthous M, Smith-Whitley K, Manwani D, Casu C, Abdulmalik O, Cappellini MD, Rivella S, Breda L. 2'-O-methoxyethyl splice-switching oligos correct splicing from IVS2-745 β-thalassemia patient cells restoring HbA production and chain rebalance. Haematologica. 2020 May 21:haematol.2019.226852. Epub ahead of print. PMID: 32439726.

Brownell JN, Schall JI, Mcanlis CR, Smith-Whitley K, Norris CF, Stallings VA. Effect of High-dose Vitamin A Supplementation in Children With Sickle Cell Disease: A Randomized, Double-blind, Dose-finding Pilot Study. J Pediatr Hematol Oncol. 2020 Mar;42(2):83-91. PMID: 31764511.

Schultz CL, Tchume-Johnson T, Jackson T, Enninful-Eghan H, Schapira MM, Smith-Whitley K. Reproductive intentions in mothers of young children with sickle cell disease. Pediatr Blood Cancer. 2020 May;67(5):e28227. Epub 2020 Feb 17. PMID: 32065500.

Kaur M, Brown M, Love TW, Thompson A, Treadwell M, Smith-Whitley K. Understanding sickle cell disease: impact of surveillance and gaps in knowledge. Blood Adv. 2020 Feb 11;4(3):496-498. PMID: 32027743.

Breda L, Ghiaccio V, Tanaka N, Jarocha D, Ikawa Y, Abdulmalik O, Dong A, Casu C, Raabe TD, Shan X, Danet-Desnoyers GA, Doto AM, Everett J, Bushman FD, Radaelli E, Assenmacher CA, Tarrant JC, Hoepp N, Guzikowski V, Smith-Whitley K, Janet L. Kwiatkowski JL, Stefano Rivella S. Lentiviral vector ALS20 yields high hemoglobin levels with low genomic integrations for treatment of beta-globinopathies; Molecular Therapy, in press.

Sinha S, Pereira-Reis J, Guerra A, Rivella S, Duarte D. The role of iron in benign and malignant hematopoiesis. Antioxid Redox Signal. 2020 Nov 24. Epub ahead of print. PMID: 33231101.

Musallam KM, Rivella S, Taher AT. Management of non-transfusion-dependent β-thalassemia (NTDT): The next 5 years. Am J Hematol. 2020 Nov 21. Epub ahead of print. PMID: 33219704.

Musallam KM, Cappellini MD, Viprakasit V, Kattamis A, Rivella S, Taher AT. Revisiting the non-transfusion-dependent (NTDT) vs. transfusion-dependent (TDT) thalassemia classification 10 years later. Am J Hematol. 2020 Nov 21. Epub ahead of print. PMID: 33219703.

Casu C, Pettinato M, Liu A, Aghajan M, Lo Presti V, Lidonnici MR, Munoz KA, O'Hara E, Olivari V, Di Modica SM, Booten S, Guo S, Neil G, Miari R, Shapir N, Zafir-Lavie I, Domev H, Ferrari G, Sitara D, Nai A, Rivella S. Correcting β-thalassemia by combined therapies that restrict iron and modulate erythropoietin activity. Blood. 2020 Oct 22;136(17):1968-1979. PMID: 32556142.

Ghoti H, Ackerman S, Rivella S, Casu C, Nadir Y. Heparanase Level and Procoagulant Activity Are Increased in Thalassemia and Attenuated by Janus Kinase 2 Inhibition. Am J Pathol. 2020 Oct;190(10):2146-2154. Epub 2020 Aug 1. PMID: 32745462.

Patino E, Doty SB, Bhatia D, Meza K, Zhu YS, Rivella S, Choi ME, Akchurin O. Carbonyl iron and iron dextran therapies cause adverse effects on bone health in juveniles with chronic kidney disease. Kidney Int. 2020 Nov;98(5):1210-1224. Epub 2020 Jun 20. PMID: 32574618.

Dong A, Ghiaccio V, Motta I, Guo S, Peralta R, Freier SM, Watt A, Damle S, Ikawa Y, Jarocha D, Chappell M, Stephanou C, Delbini P, Chen C, Christou S, Kleanthous M, Smith-Whitley K, Manwani D, Casu C, Abdulmalik O, Cappellini MD, Rivella S, Breda L. 2'-O-methoxyethyl splice-switching oligos correct splicing from IVS2-745 β-thalassemia patient cells restoring HbA production and chain rebalance. Haematologica. 2020 May 21:haematol.2019.226852. Epub ahead of print. PMID: 32439726.

La P, Oved JH, Ghiaccio V, Rivella S. Mitochondria Biogenesis Modulates Iron-Sulfur Cluster Synthesis to Increase Cellular Iron Uptake. DNA Cell Biol. 2020 May;39(5):756-765. Epub 2020 Apr 13. PMID: 32282232.

Elgarten C.W., Myers R.M., Levy E., Freedman J.L., Bunin N.J., Fisher B.T., and Olson T.S.: Cytomegalovirus Reactivation in Children with Hemoglobinopathies Who Undergo Hematopoietic Cell Transplantation with Distal Alemtuzumab. American Society of Transplant and Cellular Therapy (TCT) 2019 Annual Meeting (Poster Presentation), Houston, TX 25(3): S309-S310, Feb 2019.

Oved J.H., Wang Y., Barrett D.M., Levy E.M., Huang Y., Monos D.S., Grupp S.A., Bunin N.J., and Olson T.S.: CD3+/CD19+ depleted matched and mismatched unrelated donor hematopoietic stem cell transplant with targeted T cell addback is associated with excellent outcomes in pediatric patients with non-malignant hematologic disorders  Biol Blood Marrow Transplant 25(3): 549-555, Mar 2019.

Chonat S, Risinger M, Sakthivel H, Niss O, Rothman JA, Hsieh L, Chou ST, Kwiatkowski JL, Khandros E, Gorman MF, Wells DT, Maghathe T, Dagaonkar N, Seu KG, Zhang K, Zhang W, Kalfa TA. Corrigendum: The Spectrum of SPTA1-Associated Hereditary Spherocytosis. Front Physiol. 2019 Oct 18;10:1331. doi: 10.3389/fphys.2019.01331. Erratum for: Front Physiol. 2019 Jul 03;10:815. PMID: 31736770; PMCID: PMC6843059.

Kwiatkowski JL, Voeks JH, Kanter J, Fullerton HJ, Debenham E, Brown L, Adams RJ; Post-STOP Study Group. Ischemic stroke in children and young adults with sickle cell disease in the post-STOP era. Am J Hematol. 2019 Dec;94(12):1335-1343. doi: 10.1002/ajh.25635. Epub 2019 Nov 1. PMID: 31489983.

Grace RF, Rose C, Layton DM, Galactéros F, Barcellini W, Morton DH, van Beers EJ, Yaish H, Ravindranath Y, Kuo KHM, Sheth S, Kwiatkowski JL, Barbier AJ, Bodie S, Silver B, Hua L, Kung C, Hawkins P, Jouvin MH, Bowden C, Glader B. Safety and Efficacy of Mitapivat in Pyruvate Kinase Deficiency. N Engl J Med. 2019 Sep 5;381(10):933-944. doi: 10.1056/NEJMoa1902678. PMID: 31483964.

Chonat S, Risinger M, Sakthivel H, Niss O, Rothman JA, Hsieh L, Chou ST, Kwiatkowski JL, Khandros E, Gorman MF, Wells DT, Maghathe T, Dagaonkar N, Seu KG, Zhang K, Zhang W, Kalfa TA. The Spectrum of SPTA1-Associated Hereditary Spherocytosis. Front Physiol. 2019 Jul 3;10:815. doi: 10.3389/fphys.2019.00815. Erratum in: Front Physiol. 2019 Oct 18;10:1331. PMID: 31333484.

Khandros E, Kwiatkowski JL. Beta Thalassemia: Monitoring and New Treatment Approaches. Hematol Oncol Clin North Am. 2019 Jun;33(3):339-353. doi: 10.1016/j.hoc.2019.01.003. Epub 2019 Apr 2. PMID: 31030806.

Ikawa Y, Miccio A, Magrin E, Kwiatkowski JL, Rivella S, Cavazzana M. Gene therapy of hemoglobinopathies: progress and future challenges. Hum Mol Genet. 2019 Oct 1;28(R1):R24-R30. doi: 10.1093/hmg/ddz172. PMID: 31322165.

Kwiatkowski JL. Matched Sibling Donor Hematopoietic Stem Cell Transplantation to Prevent Stroke in Children With Sickle Cell Anemia. JAMA. 2019 Jan 22;321(3):251-252. doi: 10.1001/jama.2018.20390. PMID: 30667487.

Ghiaccio V., Chappell M. E., Rivella S., Breda L: Gene Therapy for Beta- Hemoglobinopathies: Milestones, New Therapies and Challenges. Molecular Diagnosis & Therapy 2019. PMID: 30701409

Guerra A., Oikomidou Rea Paraskevi., Sinha Sa, Zhang J., Lo Presti V., Hamilton C.R., Breda L., Casu C., La P., Martins A. C., Sendamarai A. K., Fleming M., Rivella S: Lack of Gdf11 does not improve anemia or prevent the activity of RAP-536 in a mouse model of beta-thalassemia. Blood 2019. PMID: 31151988

Smith-Whitley K. Complications in pregnant women with sickle cell disease. Hematology Am Soc Hematol Educ Program. 2019 Dec 6;2019(1):359-366. PMID: 31808864.

Stevens EM, Patterson CA, Tchume-Johnson T, Antiel RM, Flake A, Smith-Whitley K, Barakat LP. Parental Attitudes Towards Prenatal Genetic Testing For Sickle Cell Disease. J Pediatr Hematol Oncol. 2019 Nov;41(8):579-585. PMID: 31568178.

Smaldone A, Manwani D, Aygun B, Smith-Whitley K, Jia H, Bruzzese JM, Findley S, Massei J, Green NS. HABIT efficacy and sustainability trial, a multi-center randomized controlled trial to improve hydroxyurea adherence in youth with sickle cell disease: a study protocol. BMC Pediatr. 2019 Oct 15;19(1):354. PMID: 31615480.

Lee L, Smith-Whitley K, Banks S, Puckrein G. Reducing Health Care Disparities in Sickle Cell Disease: A Review. Public Health Rep. 2019 Nov/Dec;134(6):599-607. Epub 2019 Oct 10. PMID: 31600481.

Allen KY, Jones S, Jackson T, DeCost G, Stephens P, Hanna BD, Cohen MS, Smith-Whitley K, Mercer-Rosa L, Natarajan SS. Echocardiographic Screening of Cardiovascular Status in Pediatric Sickle Cell Disease. Pediatr Cardiol. 2019 Dec;40(8):1670-1678. Epub 2019 Sep 21. PMID: 31542803.

Ruhl AP, Sadreameli SC, Allen JL, Bennett DP, Campbell AD, Coates TD, Diallo DA, Field JJ, Fiorino EK, Gladwin MT, Glassberg JA, Gordeuk VR, Graham LM, Greenough A, Howard J, Kato GJ, Knight-Madden J, Kopp BT, Koumbourlis AC, Lanzkron SM, Liem RI, Machado RF, Mehari A, Morris CR, Ogunlesi FO, Rosen CL, Smith-Whitley K, Tauber D, Terry N, Thein SL, Vichinsky E, Weir NA, Cohen RT, Klings ES. Identifying Clinical and Research Priorities in Sickle Cell Lung Disease. An Official American Thoracic Society Workshop Report. Ann Am Thorac Soc. 2019 Sep;16(9):e17-e32. PMID: 31469310.

Bystrom LM, Bezerra DP, Hsu HT, Zong H, Lara-Martínez LA, De Leon JP, Emmanuel M, Méry D, Gardenghi S, Hassane D, Neto CC, Cunningham-Rundles S, Becker MW, Rivella S, Guzman ML. Cranberry A-type proanthocyanidins selectively target acute myeloid leukemia cells. Blood Adv. 2019 Nov 12;3(21):3261-3265. PMID: 31698457.

Parrow NL, Li Y, Feola M, Guerra A, Casu C, Prasad P, Mammen L, Ali F, Vaicikauskas E, Rivella S, Ginzburg YZ, Fleming RE. Lobe specificity of iron binding to transferrin modulates murine erythropoiesis and iron homeostasis. Blood. 2019 Oct 24;134(17):1373-1384. PMID: 31434707.

Casu C, Chessa R, Liu A, Gupta R, Drakesmith H, Fleming R, Ginzburg YZ, MacDonald B, Rivella S. Minihepcidins improve ineffective erythropoiesis and splenomegaly in a new mouse model of adult β-thalassemia major. Haematologica. 2020 Jul;105(7):1835-1844. Epub 2019 Oct 3. PMID: 31582543.

Ikawa Y, Miccio A, Magrin E, Kwiatkowski JL, Rivella S, Cavazzana M. Gene therapy of hemoglobinopathies: progress and future challenges. Hum Mol Genet. 2019 Oct 1;28(R1):R24-R30. PMID: 31322165.

Chappell M, Rivella S. New potential players in hepcidin regulation. Haematologica. 2019 Sep;104(9):1691-1693. PMID: 31473605.

Breveglieri G, Salvatori F, Finotti A, Cosenza LC, Zuccato C, Bianchi N, Breda L, Rivella S, Bresciani A, Bisbocci M, Borgatti M, Gambari R. Development and characterization of cellular biosensors for HTS of erythroid differentiation inducers targeting the transcriptional activity of γ-globin and β-globin gene promoters. Anal Bioanal Chem. 2019 Nov;411(29):7669-7680. Epub 2019 Jul 4. PMID: 31273412.

Iolascon A, De Franceschi L, Muckenthaler M, Taher A, Rees D, de Montalembert M, Rivella S, Eleftheriou A, Cappellini MD. EHA Research Roadmap on Hemoglobinopathies and Thalassemia: An Update. Hemasphere. 2019 Jun 4;3(3):e208 PMID: 31723835.

Guerra A, Oikonomidou PR, Sinha S, Zhang J, Lo Presti V, Hamilton CR, Breda L, Casu C, La P, Martins AC, Sendamarai AK, Fleming M, Rivella S. Lack of Gdf11 does not improve anemia or prevent the activity of RAP-536 in a mouse model of β-thalassemia. Blood. 2019 Aug 8;134(6):568-572. Epub 2019 May 31. PMID: 31151988.

Ghiaccio V, Chappell M, Rivella S, Breda L. Gene Therapy for Beta-Hemoglobinopathies: Milestones, New Therapies and Challenges. Mol Diagn Ther. 2019 Apr;23(2):173-186. PMID: 30701409.

Stagg DB, Whittlesey RL, Li X, Lozovatsky L, Gardenghi S, Rivella S, Finberg KE. Genetic loss of Tmprss6 alters terminal erythroid differentiation in a mouse model of β-thalassemia intermedia. Haematologica. 2019 Oct;104(10):e442-e446. Epub 2019 Feb 28. PMID: 30819909.

Oved J., Wang Y., Huang Y., Monos D., Barrett D., Grupp S.A., Bunin N., and Olson T.: Outcomes of Unrelated Donor Peripheral Stem Cell Transplantation For Patients with Non-Malignant Hematologic Disorders Using Two Partial T cell Depletion Strategies. American Society of Pediatric Hematology Oncology (ASPHO) 2018 Annual Meeting (Oral Presentation by Oved), Pittsburgh, PA May 2018.

Van Beers EJ, Van Straaten S, Morton DH, Barcellini W, Eber SW, Glader B, Yaish HM, Chonat S, Kwiatkowski JL, Rothman JA, Sharma M, Neufeld EJ, Sheth S, Despotovic JM, Kollmar N, Pospíšilová D, Knoll CM, Kuo K, Pastore YD, Thompson AA, Newburger PE, Ravindranath Y, Wang WC, Wlodarski MW, Wang H, Holzhauer S, Breakey VR, Verhovsek M, Kunz J, McNaull MA, Rose MJ, Bradeen HA, Addonizio K, Li A, Al-Sayegh H, London WB, Grace RF. Prevalence and management of iron overload in pyruvate kinase deficiency: report from the Pyruvate Kinase Deficiency Natural History Study. Haematologica. 2019 Feb;104(2):e51-e53. doi: 10.3324/haematol.2018.196295. Epub 2018 Sep 13. PMID: 30213831.

Riley LG, Heeney MM, Rudinger-Thirion J, Frugier M, Campagna DR, Zhou R, Hale GA, Hilliard LM, Kaplan JA, Kwiatkowski JL, Sieff CA, Steensma DP, Rennings AJ, Simons A, Schaap N, Roodenburg RJ, Kleefstra T, Arenillas L, Fita-Torró J, Ahmed R, Abboud M, Bechara E, Farah R, Tamminga RYJ, Bottomley SS, Sanchez M, Huls G, Swinkels DW, Christodoulou J, Fleming MD. The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2. Haematologica. 2018 Dec;103(12):2008-2015. doi: 10.3324/haematol.2017.182659. Epub 2018 Jul 19. PMID: 30026338.

Thompson AA, Walters MC, Kwiatkowski J, Rasko JEJ, Ribeil JA, Hongeng S, Magrin E, Schiller GJ, Payen E, Semeraro M, Moshous D, Lefrere F, Puy H, Bourget P, Magnani A, Caccavelli L, Diana JS, Suarez F, Monpoux F, Brousse V, Poirot C, Brouzes C, Meritet JF, Pondarré C, Beuzard Y, Chrétien S, Lefebvre T, Teachey DT, Anurathapan U, Ho PJ, von Kalle C, Kletzel M, Vichinsky E, Soni S, Veres G, Negre O, Ross RW, Davidson D, Petrusich A, Sandler L, Asmal M, Hermine O, De Montalembert M, Hacein-Bey-Abina S, Blanche S, Leboulch P, Cavazzana M. Gene Therapy in Patients with Transfusion-Dependent β-Thalassemia. N Engl J Med. 2018 Apr 19. PMID: 29669226.

Vichinsky E, Cohen A, Thompson AA, Giardina PJ, Lal A, Paley C, Cheng WY, McCormick N, Sasane M, Qiu Y, Kwiatkowski JL. Epidemiologic and clinical characteristics of nontransfusion-dependent thalassemia in the United States. Pediatr Blood Cancer. 2018 Jul;65(7):e27067. Epub 2018 Apr 10. PMID: 29637688.

Shenoy S, Walters MC, Ngwube A, Soni S, Jacobsohn D, Chaudhury S, Grimley M, Chan K, Haight A, Kasow KA, Parikh S, Andreansky M, Connelly J, Delgado D, Godder K, Hale G, Nieder M, Pulsipher MA, Trachtenberg F, Neufeld E, Kwiatkowski JL, Thompson AA. Unrelated Donor Transplantation in Children with Thalassemia using Reduced-Intensity Conditioning: The URTH Trial. Biol Blood Marrow Transplant. 2018 Jun;24(6):1216-1222. Epub 2018 Jan 31. PMID: 29374585; PMCID: PMC5993578.

Naik RP, Smith-Whitley K, Hassell KL, Umeh NI, de Montalembert M, Sahota P, Haywood C Jr, Jenkins J, Lloyd-Puryear MA, Joiner CH, Bonham VL, Kato GJ. Clinical Outcomes Associated With Sickle Cell Trait: A Systematic Review. Ann Intern Med. 2018 Nov 6;169(9):619-627. Epub 2018 Oct 30. PMID: 30383109.

Dougherty KA, Bertolaso C, Schall JI, Smith-Whitley K, Stallings VA. Muscle Strength, Power, and Torque Deficits in Children With Type SS Sickle Cell Disease. J Pediatr Hematol Oncol. 2018 Jul;40(5):348-354. PMID: 29621064.

Psihogios AM, Daniel LC, Tarazi R, Smith-Whitley K, Patterson CA, Barakat LP. Family Functioning, Medical Self-Management, and Health Outcomes Among School-Aged Children With Sickle Cell Disease: A Mediation Model. J Pediatr Psychol. 2018 May 1;43(4):423-433. PMID: 29048590.

Ellison AM, Smith Whitley K, Kittick M, Schast A, Norris C, Hartung H, McKnight T, Coyne E, Lavelle J. A Standardized Clinical Pathway to Decrease Hospital Admissions Among Febrile Children With Sickle Cell Disease. J Pediatr Hematol Oncol. 2018 Mar;40(2):111-115.PMID: 29252940.

Sontag MK, Sarkar D, Comeau AM, Hassell K, Botto LD, Parad R, Rose SR, Wintergerst KA, Smith-Whitley K, Singh S, Yusuf C, Ojodu J, Copeland S, Hinton CF. Case Definitions for Conditions Identified by Newborn Screening Public Health Surveillance. Int J Neonatal Screen. 2018;4(2):16. Epub 2018 May 9. PMID: 29862374.

Casu C, Nemeth E, Rivella S. Hepcidin agonists as therapeutic tools. Blood. 2018 Apr 19;131(16):1790-1794. Epub 2018 Mar 9. PMID: 29523504.

Agoro R, Montagna A, Goetz R, Aligbe O, Singh G, Coe LM, Mohammadi M, Rivella S, Sitara D. Inhibition of fibroblast growth factor 23 (FGF23) signaling rescues renal anemia. FASEB J. 2018 Jul;32(7):3752-3764. Epub 2018 Feb 26. PMID: 29481308.

Hotz MJ, Qing D, Shashaty MGS, Zhang P, Faust H, Sondheimer N, Rivella S, Worthen GS, Mangalmurti NS. Red Blood Cells Homeostatically Bind Mitochondrial DNA through TLR9 to Maintain Quiescence and to Prevent Lung Injury. Am J Respir Crit Care Med. 2018 Feb 15;197(4):470-480. PMID: 29053005.

Gupta R, Musallam KM, Taher AT, Rivella S. Ineffective Erythropoiesis: Anemia and Iron Overload. Hematol Oncol Clin North Am. 2018 Apr;32(2):213-221. Epub 2017 Dec 29. PMID: 29458727.

Guerra A, Musallam KM, Taher AT, Rivella S. Emerging Therapies. Hematol Oncol Clin North Am. 2018 Apr;32(2):343-352. Epub 2017 Dec 15. Erratum in: Hematol Oncol Clin North Am. 2018 Jun;32(3):xiii. PMID: 29458736.

Aschemeyer S, Qiao B, Stefanova D, Valore EV, Sek AC, Ruwe TA, Vieth KR, Jung G, Casu C, Rivella S, Jormakka M, Mackenzie B, Ganz T, Nemeth E. Structure-function analysis of ferroportin defines the binding site and an alternative mechanism of action of hepcidin. Blood. 2018 Feb 22;131(8):899-910. Epub 2017 Dec 13. PMID: 29237594.

Akchurin O, Patino E, Dalal V, Meza K, Bhatia D, Brovender S, Zhu YS, Cunningham-Rundles S, Perelstein E, Kumar J, Rivella S, Choi ME. Interleukin-6 Contributes to the Development of Anemia in Juvenile CKD. Kidney Int Rep. 2018 Dec 19;4(3):470-483. PMID: 30899874.

Rivella S. Iron metabolism under conditions of ineffective erythropoiesis in β-thalassemia. Blood. 2019 Jan 3;133(1):51-58.  Epub 2018 Nov 6. PMID: 30401707.

Hulihan M, Hassell KL, Raphael JL, Smith-Whitley K, Thorpe P. CDC Grand Rounds: Improving the Lives of Persons with Sickle Cell Disease. MMWR Morb Mortal Wkly Rep. 2017 Nov 24;66(46):1269-1271. PMID: 29166365.

Panepinto JA, Paul Scott J, Badaki-Makun O, Darbari DS, Chumpitazi CE, Airewele GE, Ellison AM, Smith-Whitley K, Mahajan P, Sarnaik SA, Charles Casper T, Cook LJ, Leonard J, Hulbert ML, Powell EC, Liem RI, Hickey R, Krishnamurti L, Hillery CA, Brousseau DC; Pediatric Emergency Care Applied Research Network (PECARN). Determining the longitudinal validity and meaningful differences in HRQL of the PedsQL™ Sickle Cell Disease Module. Health Qual Life Outcomes. 2017 Jun 12;15(1):124. PMID: 28606098.

Antiel RM, Halpern SD, Stevens EM, Vrecenak JD, Patterson CA, Tchume-Johnson T, Smith-Whitley K, Peranteau WH, Flake AW, Barakat LP. Acceptability of In Utero Hematopoietic Cell Transplantation for Sickle Cell Disease. Med Decis Making. 2017 Nov;37(8):914-921. Epub 2017 May 10. PMID: 28490230.

Pasricha SR, Lim PJ, Duarte TL, Casu C, Oosterhuis D, Mleczko-Sanecka K, Suciu M, Da Silva AR, Al-Hourani K, Arezes J, McHugh K, Gooding S, Frost JN, Wray K, Santos A, Porto G, Repapi E, Gray N, Draper SJ, Ashley N, Soilleux E, Olinga P, Muckenthaler MU, Hughes JR, Rivella S, Milne TA, Armitage AE, Drakesmith H. Hepcidin is regulated by promoter-associated histone acetylation and HDAC3. Nat Commun. 2017 Sep 1;8(1):403. PMID: 28864822.
Nowak RB, Papoin J, Gokhin DS, Casu C, Rivella S, Lipton JM, Blanc L, Fowler VM. Tropomodulin 1 controls erythroblast enucleation via regulation of F-actin in the enucleosome. Blood. 2017 Aug 31;130(9):1144-1155. Epub 2017 Jul 20. PMID: 28729432.

Iolascon A, Andolfo I, Barcellini W, Corcione F, Garçon L, De Franceschi L, Pignata C, Graziadei G, Pospisilova D, Rees DC, de Montalembert M, Rivella S, Gambale A, Russo R, Ribeiro L, Vives-Corrons J, Martinez PA, Kattamis A, Gulbis B, Cappellini MD, Roberts I, Tamary H; Working Study Group on Red Cells and Iron of the EHA. Recommendations regarding splenectomy in hereditary hemolytic anemias. Haematologica. 2017 Aug;102(8):1304-1313. doi: 10.3324/haematol.2016.161166. Epub 2017 May 26. PMID: 28550188.

Crielaard BJ, Lammers T, Rivella S. Targeting iron metabolism in drug discovery and delivery. Nat Rev Drug Discov. 2017 Jun;16(6):400-423. Epub 2017 Feb 3. PMID: 28154410.

Li H, Choesang T, Bao W, Chen H, Feola M, Garcia-Santos D, Li J, Sun S, Follenzi A, Pham P, Liu J, Zhang J, Ponka P, An X, Mohandas N, Fleming RE, Rivella S, Li G, Ginzburg YZ. Decreasing TfR1 expression reverses anemia and hepcidin suppression in β-thalassemic mice. Blood. 2017 Mar 16;129(11):1514-1526.. Epub 2017 Feb 1. Erratum in: Blood. 2017 Dec 21;130(25):2809. PMID: 28151426.

Muckenthaler MU, Rivella S, Hentze MW, Galy B. A Red Carpet for Iron Metabolism. Cell. 2017 Jan 26;168(3):344-361. PMID: 28129536.

Dong AC, Rivella S. Gene Addition Strategies for β-Thalassemia and Sickle Cell Anemia. Adv Exp Med Biol. 2017;1013:155-176. PMID: 29127680.

Breda Laura, Motta Irene, Lourenco Silvia, Gemmo Chiara, Deng Wulan, Rupon Jeremy W, Abdulmalik Osheiza Y, Manwani Deepa, Blobel Gerd A, Rivella Stefano: Forced chromatin looping raises fetal hemoglobin in adult sickle cells to higher levels than pharmacologic inducers. Blood 128(8): 1139-43, Aug 2016. PMID: 27405777

Cosenza Lucia Carmela, Breda Laura, Breveglieri Giulia, Zuccato Cristina, Finotti Alessia, Lampronti Ilaria, Borgatti Monica, Chiavilli Francesco, Gamberini Maria Rita, Satta Stefania, Manunza Laura, De Martis Franca Rosa, Moi Paolo, Rivella Stefano, Gambari Roberto, Bianchi Nicoletta: A validated cellular biobank for β- thalassemia. Journal of translational medicine 14(1): 255, Sep 2016. PMID: 27590532