Publications

2024

DeCoste C, Moaf P, Mohamed I, Ng L, Ostojic-Aitkens D, Levy DM, Hiraki LT, Toulany A, Knight AM. Adolescent health care needs and relationship to disease in patients with childhood-onset systemic lupus erythematosus . Arthritis Care Res (Hoboken). 2024 Jan 14. doi: 10.1002/acr.25297. PMID: 38221711 DOI: 10.1002/acr.25297
Choong N, Batthish M, Berard RA, Chédeville G, Feldman BM, Houghton KM, Huber AM, James S, Proulx-Gauthier JP, Rumsey DG, Schmeling H, Toupin-April K, Guzman J; CAPRI Registry Investigators. The Relationship of Fatigue, Pain Interference and Physical Disability in Children Newly Diagnosed with Juvenile Idiopathic Arthritis. Arthritis Care Res (Hoboken). 2024 May 20. doi: 10.1002/acr.25377. Online ahead of print. PMID: 38769616.
Neufeld KM*, Moaf P, Quilter M, Danguecan AN, Couture J, Dominguez D, Hendrikx O, Ng L, Schachter R, Korczak DD, Levy DM, Hiraki L, Knight AM. Evaluation of depressive and anxiety symptoms in childhood-onset systemic lupus erythematosus: Frequency, course, and associated risk factors. Lupus. 2024 May 22:9612033241254170. doi: 10.1177/09612033241254170. Online ahead of print. PMID: 38774953.
Misztal MC*, Gold N, Cao J, Diaz T, Dominguez D, Thompson K, Jaeggi E, Knight AM, Laskin C, Ng L, Silverman ED, Hiraki LT. Genetics of Neonatal Lupus Erythematosus Risk and Specific Manifestations. J Rheumatol. 2024 Jun 1:jrheum.2023-1036. Online ahead of print. PMID: 38825356.

2023

Webber D, Cao J, Dominguez D, Gladman DD, Knight A, Levy DM, Liao F, Ng L, Paterson AD, Touma Z, Wither J, Urowitz M, Silverman ED, Hiraki LT. Genetics of osteonecrosis in children and adults with systemic lupus erythematosus. Rheumatology (Oxford). 2023 Sep 1;62(9):3205-3212. doi: 10.1093/rheumatology/kead016. PMID: 36651668.
Vazzana KM, Musolf AM, Bailey-Wilson JE, Hiraki LT, Silverman ED, Scott C, Dalgard CL, Hasni S, Deng Z, Kaplan MJ, Lewandowski LB. Transmission disequilibrium analysis of whole genome data in childhood-onset systemic lupus erythematosus. Genes Immun. 2023 Aug;24(4):200-206. doi: 10.1038/s41435-023-00214-x. Epub 2023 Jul 24. PMID: 37488248; PMCID: PMC10529982
Cunningham NR, Miller A, Ely SL, Reid MR, Danguecan A, Mossad SI, Pereira LF, Abulaban K, Kessler E, Rosenwasser N, Nanda K, Rubinstein T, Reeves M, Kohut SA, Stinson J, Tal TE, Levy DM, Hiraki L, Smitherman EA, Knight AM. A multi-site pilot randomized clinical trial of the Treatment and Education Approach for Childhood-onset Lupus (TEACH) program: study design and COVID-19 adaptations. Pediatr Rheumatol Online J. 2023 Jun 23;21(1):61. doi: 10.1186/s12969-023-00835-6. PMID: 37353795; PMCID: PMC10290375
An JW, Pimpale-Chavan P, Stone DL, Bandeira M, Dedeoglu F, Lo J, Bohnsack J, Rosenzweig S, Schnappauf O, Dissanayake D, Hiraki LT, Kastner DL, Pelajo C, Laxer RM, Aksentijevich I. Case report: Novel variants in RELA associated with familial Behcet’s-like disease. Front Immunol. 2023 Feb 28;14:1127085. doi: 10.3389/fimmu.2023.1127085. PMID: 36926348; PMCID: PMC10011480.
Kim ST, Muñoz-Grajales C, Dunn SE, Schneider R, Johnson SR, Touma Z, Ahmad Z, Bonilla D, Atenafu EG, Hiraki LT, Bookman A, Wither J. Interferon, and interferon-induced cytokines as markers of impending clinical progression in ANA+ individuals without a systemic autoimmune rheumatic disease diagnosis. Arthritis Res Ther. 2023 Feb 10;25(1):21. doi: 10.1186/s13075-023- 02997-w. PMID: 36765391; PMCID: PMC9912609.
Tang TS, Liao F, Webber D, Gold N, Cao J, Dominguez D, Gladman D, Knight A, Levy DM, Ng L, Paterson AD, Touma Z, Urowitz MB, Wither J, Silverman ED, Pullenayegum EM, Hiraki LT. Genetics of longitudinal kidney function in children and adults with systemic lupus erythematosus. Rheumatology (Oxford). 2023 Mar 14:kead119. doi: 10.1093/rheumatology/kead119. Epub ahead of print. PMID: 36916720.
Jaeggi E, Kulasingam V, Chen J, Fan CS, Laskin C, Hamilton RM, Hiraki LT, Silverman ED, Sepiashvili L. Maternal Anti-Ro Antibody Titers Obtained with Commercially Available Immunoassays are Strongly Associated with Immune-Mediated Fetal Heart Disease. Arthritis Rheumatol. 2023 Mar 30. doi: 10.1002/art.42513. Epub ahead of print. PMID: 36996277.
Moneta GM, Bracaglia C, Caiello I, Farroni C, Pires Marafon D, Carlomagno R, Hiraki L, Vivarelli M, Gianviti A, Carbogno S, Ferlin W, de Min C, Silverman E, Carsetti R, De Benedetti F, Marasco E. Persistently active interferon-γ pathway and expansion of T-bet⁺ B cells in a subset of patients with childhood-onset systemic lupus erythematosus. Eur J Immunol. 2023 May 19:e2250319. doi: 10.1002/eji.202250319. Epub ahead of print. PMID: 37204055.

2022

Misztal MC, Liao F, Couse M, Cao J, Dominguez D, Lau L, Marshall CR, Naumenko S, Knight AM, Levy DM, Hiraki LT. Genome-Wide Sequencing Identified Rare Genetic Variants for Childhood-Onset Monogenic Lupus. J Rheumatol. 2022 Nov 15:jrheum.220513. doi: 10.3899/jrheum.220513. Epub ahead of print. PMID: 36379578.
Houghton K, McPherson M, Surjanovic N, Loughin T, Berard R, Proulx-Gauthier JP, Chédeville G, Rumsey D, Schmeling H, Luca N, Johnson N, Gerschman T, Miettunen P, Tam H, Lim L, Morishita K, Scuccimarri R, Roth J, Duffy C, Tucker L, Feldman BM, Guzman J; CAPRI Registry Investigators. Development and validation of the Kids Disability Screen for children with juvenile idiopathic arthritis: results from the CAPRI Registry. Rheumatology (Oxford). 2022 Nov 28;61(12):4835-4844. doi: 10.1093/rheumatology/keac146. PMID: 35438140.
Zhou Q, Kang G, Jiang P, Qiao R, Lam WKJ, Yu SCY, Ma ML, Ji L, Cheng SH, Gai W, Peng W, Shang H, Chan RWY, Chan SL, Wong GLH, Hiraki LT, Volpi S, Wong VWS, Wong J, Chiu RWK, Chan KCA, Lo YMD. Epigenetic analysis of cell-free DNA by fragmentomic profiling. Proc Natl Acad Sci U S A. 2022 Nov;119(44):e2209852119. doi: 10.1073/pnas.2209852119. Epub 2022 Oct 26. PMID: 36288287.
Ding SC, Chan RWY, Peng W, Huang L, Zhou Z, Hu X, Volpi S, Hiraki LT, Vaglio A, Fenaroli P, Bocca P, Tam LS, Wong PCH, Tam LHP, Jiang P, Chiu RWK, Allen Chan KC, Dennis Lo YM. Jagged Ends on Multinucleosomal Cell-Free DNA Serve as a Biomarker for Nuclease Activity and Systemic Lupus Erythematosus. Clin Chem. 2022 Jul 3;68(7):917-926. doi: 10.1093/clinchem/hvac050. PMID: 35587043.
Gupta R, Vanlieshout E, Manion K, Bonilla D, Kim M, Muñoz-Grajales C, Nassar C, Johnson SR, Hiraki LT, Ahmad Z, Touma Z, Bookman A, Wither JE. Altered Balance of Pro-Inflammatory Immune Cells to T Regulatory Cells Differentiates Symptomatic From Asymptomatic Individuals With Anti-Nuclear Antibodies. Front Immunol. 2022 Jun 30;13:886442. doi: 10.3389/fimmu.2022.886442. PMID: 35844549; PMCID: PMC9279569.
Dushnicky MJ, Campbell C, Beattie KA, Berard R, Cellucci T, Chan M, Gerschman T, Johnson N, Lim L, Luca N, Miettunen P, Morishita KA, Proulx-Gauthier JP, Rumsey DG, Schmeling H, Scuccimarri R, Tam H, Guzman J, Batthish M; CAPRI Registry Investigators. Impact of the COVID-19 pandemic on juvenile idiopathic arthritis presentation and research recruitment: results from the CAPRI registry. Rheumatology (Oxford). 2022 Jun 28;61(SI2):SI157-SI162. doi: 10.1093/rheumatology/keab812. PMID: 34726738; PMCID: PMC8689883.
Lahiry P, Naumenko S, Couse M, Liao F, Dominguez D, Knight A, Levy DM, Misztal M, Ng LWK, Hiraki LT. Hemophagocytic Lymphohistiocytosis Gene Variants in Childhood-Onset Systemic Lupus Erythematosus With Macrophage Activation Syndrome. J Rheumatol. 2022 Oct;49(10):1146-1151. doi: 10.3899/jrheum.211200. Epub 2022 Jun 1. PMID: 35649546.
Muñoz-Grajales C, Prokopec SD, Johnson SR, Touma Z, Ahmad Z, Bonilla D, Hiraki L, Bookman A, Boutros PC, Chruscinski A, Wither J. Serological abnormalities that predict progression to systemic autoimmune rheumatic diseases in antinuclear antibody-positive individuals. Rheumatology (Oxford). 2022 Mar 2;61(3):1092-1105. doi: 10.1093/rheumatology/keab501. PMID: 34175923
Sontichai W, Liao F, Dominguez D, Levy DM, Al Mutairi M, Ng L, Silverio F, Silverman ED, Wasserman JD, Hiraki LT. Timing of Childhood-Onset Systemic Lupus Erythematosus Diagnosis Relative to Menarche and the Impact on Final Adult Height. Arthritis Care Res (Hoboken). 2022 Feb;74(2):199-207. doi: 10.1002/acr.24461. Epub 2022 Jan 10. PMID: 32976694.
Chalhoub NE, Wenderfer SE, Levy DM, Rouster-Stevens K, Aggarwal A, Savani SI, ,Ruth NM, Arkachaisri T, Qiu T, Merritt A, Onel K, Beatrice Goalie B, Khubchandani RP, Deng J, Fonseca AR, Ardoin SP, Ciurtin C, Kasapcopur O, Jelusic M, Huber AM, Ozen S, Klein-Gitelman MS, Appenzeller S, Cavalcanti A, Fotis L, Lim SC, Silva RM, Ramírez- Miramontes J, Rosenwasser NL, Saad-Magalhaes C, Schonenberg-Meinema D, Scott C, Silva CA, Enciso S, Terreri MT, Torres-Jimenez AR, Trachana M, Al-Mayouf SM, Devarajan P, Huang B, Brunner HI, Childhood Arthritis and Rheumatology Research Alliance Lupus Nephritis Work Group and the Pediatric Rheumatology European Society Lupus Working Party. International Consensus for the Dosing of Corticosteroids in Childhood-Onset Systemic Lupus Erythematosus with Proliferative Lupus Nephritis. Arthritis Rheumatol. 2022 Feb;74(2):263-273. doi: 10.1002/art.41930. Epub 2022 Jan 4.PMID: 34279063
Ulloa AC, Liao F, Carlomagno RL, Diaz T, Dominguez D, Levy DM, Ng L, Knight AM, Hiraki LT. Schizophrenia Genetics and Neuropsychiatric Features in Childhood-onset Systemic Lupus Erythematosus. J Rheumatol. 2022 Feb;49(2):192-196. doi: 10.3899/jrheum.210363. Epub 2021 Oct 1. PMID: 34599046.

2021

Han DSC, Ni M, Chan RWY, Wong DKL, Hiraki LT, Volpi S, Jiang P, Lui KO, Chan KCA, Chiu RWK, Lo YMD. Nuclease deficiencies alter plasma cell-free DNA methylation profiles. Genome Res. 2021 Nov;31(11):2008-2021. doi: 10.1101/gr.275426.121. Epub 2021 Sep 1. PMID: 34470801; PMCID: PMC8559716.
Quilter M, Hiraki L, Knight AM, Couture J, Levy D, Silverman ED, Danguecan AN, Ng L, Dominguez D, Cost KT, Neufeld KM, Schachter R, Korczak DJ. Evaluation of self-report screening measures in the detection of depressive and anxiety disorders among children and adolescents with systemic lupus erythematosus. Lupus. 2021 Jul;30(8):1327-1337. doi: 10.1177/09612033211018504. Epub 2021 Jun 2. PMID: 34078154; PMCID: PMC8209764.
Diaz T, Dominguez D, Jaeggi E, Knight A, Laskin CA, Ng L, Silverio F, Silverman ED, Hiraki LT. Ethnicity and Neonatal Lupus Erythematosus Manifestations Risk in a Large Multi-Ethnic Cohort. J Rheumatol. 2021 Sep;48(9): 1417-1421 2021. doi: 10.3899/jrheum.201338. Online ahead of print. PMID: 33795326
Saito M, Silverman E, Golding F, Guerra V, Hiraki L, Thakur V, Jaeggi E. Effects of Transplacental Dexamethasone Therapy on Fetal Immune-Mediated Complete Heart Block. Fetal Diagn Ther. 2021;48(3):183-188. doi: 10.1159/000513202. Epub 2021 Feb 16. PMID: 33592603.
Gerstein M, Borgia RE, Dominguez D, Feldman BM, Liao F, Levy DM, Ng L, Abdelhaleem M, Silverman ED, Hiraki LT. Predicting Macrophage Activation Syndrome in Childhood-onset Systemic Lupus Erythematosus Patients at Diagnosis. J Rheumatol. 2021 Sep;48(9):1450-1457. doi: 10.3899/jrheum.200292. Epub 2020 Dec 1. PMID: 33262295.

2020

Chan RWY, Serpas L, Ni M, Volpi S, Hiraki LT, Tam LS, Rashidfarrokhi A, Wong PCH, Tam LHP, Wang Y, Jiang P, Cheng ASH, Peng W, Han DSC, Tse PPP, Lau PK, Lee WS, Magnasco A, Buti E, Sisirak V, AlMutairi N, Chan KCA, Chiu RWK, Reizis B, Lo YMD. Plasma DNA Profile Associated with DNASE1L3 Gene Mutations: Clinical Observations, Relationships to Nuclease Substrate Preference, and In Vivo Correction. Am J Hum Genet. 2020 Nov 5;107(5):882-894. doi: 10.1016/j.ajhg.2020.09.006. Epub 2020 Oct 5. PMID: 33022220; PMCID: PMC7674998.
Webber D, Cao J, Dominguez D, Gladman D, Levy DM, Ng L, Paterson AD, Touma Z, Urowitz M, Wither J, Silverman ED, Hiraki LT. Association of Systemic Lupus Erythematosus (SLE) Genetic Susceptibility Loci with Lupus Nephritis in Childhood-onset and Adult-onset with SLE. Rheumatology. 2020 Jan;59(1):90-98. PMID: 31236574

2019

Salem R, Todd JN, Sandholm N, Cole JB, Chen WM, Andrews D, Pezzolesi MG, Paul MMcKeigue PM, Hiraki LT, Qiu C, Nair V, Liao CD, Cao JJ, Valo E, Onengut-Gumuscu S, Smiles AM, McGurnaghan S, Haukka JK, Harjutsalo V, Brennan FP, van Zuydam N, Ahlqvist E, Doyle R, Ahluwalia TS, Lajer M, Hughes MF, Park J, Skupien J, Spiliopoulou A, Liu A, Menon R, Boustany-Kari CM, Kang HM, Nelson RG, Klein R, Klein BE, Lee KE, Gao X, Mauer M, Maeastroni S, Caramori ML, de Boer IH, Miller RG, Guo J, Boright AP, Tregouet D, Gyorgy B, Snell-Bergeon JK, Maahs DM, Bull SB, Canty- Palmer AJ, Palmer CNA, Stechemesser L, Paulweber B, Weitgasser R, Sokolovska J, Rovīte V, Pīrāgs V, Prakapiene E, Radzeviciene L, Verkauskiene R, Panduru NM, Groop LC, McCarthy MI, Gu HF, Möllsten A, Falhammar H, Brismar K, GENIE Consortium, DCCT/EDIC Research Group, SUMMIT Consortium, Martin F, Rossing P, Costacou T, Zerbini G, Marre M, Hadjad S, McKnight AJ, Forsblom C, McKay G, Godson C, Maxwell AP, Kretzler M, Susztak K, Colhoun, HM, Krolewski A, Paterson AD, Groop PH, Rich S, Hirschhorn JN, Florez JC. Genome-wide association study of diabetic kidney disease highlights biology involved in renal basement membrane collagen. Journal of the American Society of Nephrology (JASN). 2019 Oct;30(10):2000-2016. PMID: 31537649
Tao JJ, Hiraki LT, Levy DM, Silverman ED. Comparison of Sensitivities of American College of Rheumatology and Systemic Lupus International Collaborating Clinics Classification Criteria in Childhood-onset Systemic Lupus Erythematosus. Journal of Rheumatology. 2019 Jul;46(7):731-738. PMID: 30770510
Quilter MC, Hiraki LT, Korczak DJ. Depressive and Anxiety Symptom Prevalence in Childhood- onset Systemic Lupus Erythematosus: A Systematic Review. Lupus. 2019 Jun:28(7):878-887. PMID: 31188723
Clay M, Hiraki LT, Lamot L, Medhat BM, Sana S, Small AR. Developing Reflection and Collaboration in Translational Medicine Towards Patients and Unmet Medical Needs. Frontiers in Medicine. 2019 May 3;6:94.PMID: 31131280

2018

Van Zuydam NR, Ahlqvist E, Sandholm N, Deshmukh H, Rayner NW, Abdalla M, Ladenvall C, Ziemek D, Fauman E, Robertson NR, McKeigue PM, Valo E, Forsblom C, Harjutsalo V; FINNDIANE Study centres, Perna A, Rurali E, Marcovecchio ML, Igo RP Jr, Salem RM, Perico N, Lajer M, Käräjämäki A, Imamura M, Kubo M, Takahashi A, Sim X, Liu J, van Dam RM, Jiang G, Tam CHT, Luk AOY, Lee HM, Lim CKP, Szeto CC, So WY, Chan JCN; Hong Kong Diabetes Registry TRS Project Group, Ang SF, Dorajoo R, Wang L, Hua Clara TS, McKnight AJ, Duffy S; Warren 3/UK GoKinD Study Group, Pezzolesi MG, Consortium G, Marre M, Gyorgy B, Hadjadj S, Hiraki LT; DCCT/EDIC group, Ahluwalia TS, Almgren P, Schulz CA, Orho-Melander M, Linneberg A, Christensen C, Witte DR, Grarup N, Brandslund I, Melander O, Paterson AD, Tregouet D, Maxwell AP, Lim SC, Ma RCW, Tai ES, Maeda S, Lyssenko V, Tuomi T, Krolewski AS, Rich SS, Hirschhorn JN, Florez JC, Dunger D, Pedersen O, Hansen T, Rossing P, Remuzzi G; SUMMIT Consortium, Brosnan MJ, Palmer CNA, Groop PH, Colhoun HM, Groop LC, McCarthy MI. A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes. 2018 July; 67(7):1414-1427. PMID: 29703844
Borgia RE, Gerstein M, Levy D, Silverman ED**, Hiraki LT** (**Co-senior authors). Features, treatment and outcomes of macrophage activation syndrome in pediatric systemic lupus erythematosus. Arthritis & Rheumatology. 2018 April;70 (4): 616-624. PMID: 29342508
Lionel AC, Costain G, Monfared N, Walker S, Reuter MS, Hosseini SM, Thiruvahindrapuram B, Merico D, Jobling R, Nalpathamkalam T, Pellecchia G, Sung WWL, Wang Z, Bikangaga P, Boelman C, Carter MT, Cordeiro D, Cytrynbaum C, Dell SD, Dhir P, Dowling JJ, Heon E, Hewson S, Hiraki L, Inbar-Feigenberg M, Klatt R, Kronick J, Laxer RM, Licht C, MacDonald H, Mercimek-Andrews S, Mendoza-Londono R, Piscione T, Schneider R, Schulze A, Silverman E, Siriwardena K, Snead OC,Sondheimer N, Sutherland J, Vincent A, Wasserman JD, Weksberg R, Shuman C, Carew C, Szego MJ, Hayeems RZ, Basran R, Stavropoulos DJ, Ray PN, Bowdin S, Meyn MS, Cohn RD, Scherer SW, Marshall CR. Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test. Genetics in Medicine. 2018 April; 20 (4): 435-443. PMID: 28771251