Below are publications by the CRDC. For study - or investigator - specific publications, please visit the individual study pages under the Rare Diseases menu, Complex Cases page, and the Undiagnosed Diseases page.

Since the establishment of the CRDC, two key papers have been published highlighting the major accomplishments and impactful outcomes of this collaborative. These papers are co-authored by CRDC investigators.

  1. Rockowitz S, LeCompte N, Carmack M, Quitadamo A, Wang L, Park M, Knight D, Sexton E, Smith L, Sheidley B, Field M, Holm IA, Brownstein CA, Agrawal PB, Kornetsky S, Poduri A, Snapper SB, Beggs AH, Yu TW, Williams DA, Sliz P. Children’s rare disease cohorts: an integrative research and clinical genomics initiative. npj Genomic Medicine. (Jul 2020)
  2. French CE, Andrews NC, Beggs AH, Boone PM, Brownstein CA, Chopra M, Chou J, Chung WK, D'Gama AM, Doan RN, Ebrahimi-Fakhari D, Goldstein RD, Irons M, Jacobsen C, Kenna M, Lee T, Madden JA, Majmundar AJ, Mann N, Morton SU, Poduri A, Randolph AG, Roberts AE, Roberts S, Sampson MG, Shao DD, Shao W, Sharma A, Shearer E, Shimamura A, Snapper SB, Srivastava S, Thiagarajah JR, Whitman MC, Wojcik MH, Rockowitz S, Sliz P. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. npj Genomic Medicine.(Dec 2024)

The below articles are published by individual CRDC investigators and are primarily focused on specific rare diseases or genes.

  1. Agianda, H.A.P., Tam, A., Kunta, A., Saffari, A., Rong, J., Crough, M., Srouhi, R., Quiroz, V., Yang, K., Schierbaum, L., Ebrahimi-Fakhari, D. STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting With Gordon-Holmes Syndrome Caused By UPiD(16)mat. Movement Disorders Clinical Practice. (2024)
  2. Nguyen, A.A., Habiballah, S.B., LaBere, B., Day-Lewis, M., Elkins, M., Al-Musa, A., Chu, A., Jones, J., Fried, A.J., McDonald, D., van Konijnenburg, D.P.H., Rockowitz, S., Sliz, P., Oettgen, H.C., Schneider, L.C., MacGinnitie, A., Bartnikas, L.M., Platt, C.D., Ohsumi, T.K., Chou, J. Rethinking immunologic risk: a retrospective cohort study of severe SARS-CoV-2 infections in individuals with congenital immunodeficiencies. Journal of Allergy and Clinical Immunology: In Practice. (in press)
  3. LaBere, B., Nguyen, A.A., Habiballah, S.B., Elkins, M., Imperial, J., Li, B., Devana, S., Timilsina, S., Stubbs, S.B., Joerger, J., Chou, J., Platt, C.D. Clinical utility of measuring CD4 + T follicular cells in patients with immune dysregulation. Journal of Autoimmunity. (in press)
  4. LaCoursiere, C.M., Ullmann, J.F.P., Koh, H.Y., Turner, L., Baker, C.M., Robens, B., Shao, W., Rotenberg, A., McGraw, C.M., Poduri, A.H. Zebrafish models of candidate human epilepsy-associated genes provide evidence of hyperexcitability. iScience. (Jun 2024)
  5. Redfield, S.E., De-la-Torre, P., Zamani, M., Wang, H., Khan, H., Morris, T., Shariati, G., Karimi, M., Kenna, M.A., Seo, G.H., Xu, H., Lu, W., Naz, S., Galehdari, H., Indzhykulian, A.A., Shearer, A.E., Vona, B. PKHD1L1, a gene involved in the stereocilia coat, causes autosomal recessive nonsyndromic hearing loss. Human Genetics. (Mar 2024)
  6. O'Connell, M., Harstad, E., Aites, J., Hayes, K., Arnett, A.B., Scotellaro, J., Patel, S., Brewster, S.J., Barbaresi, W., Doan, R.N. Diverse clinical presentation of SPTBN1 variants: Complex versus primary attention‐deficit/hyperactivity disorder. American Journal of Medical Genetics Part A. (2024)
  7. Quinlan, A., Rodan, L., Barkoudah, E., Tam, A., Saffari, A., Shammas, I., Ranatunga, W., Morava-Kozicz, E., Oglesbee, D., Berry, G., Ebrahimi-Fakhari, D., Srivastava, S. Case Report of Friedreich's Ataxia and ALG1-Related Biochemical Abnormalities in a Patient With Progressive Spastic Paraplegia. American Journal of Medical Genetics Part A. (Sep 2024)
  8. Perrin, A., Métay, C., Savarese, M., et al. Titin copy number variations associated with dominant inherited phenotypes. Journal of Medical Genetics. (Mar 2024)
  9. Rowan, C.M., LaBere, B., Young, C.C., Zambrano, L.D., Newhams, M.M., Kucukak, S., McNamara, E.R., Mack, E.H., Fitzgerald, J.C., Irby, K., Maddux, A.B., Schuster, J.E., Kong, M., Dapul, H., Schwartz, S.P., Bembea, M.M., Loftis, L.L., Kolmar, A.R., Babbitt, C.J., Nofziger, R.A., Hall, M.W., Gertz, S.J., Cvijanovich, N.Z., Zinter, M.S., Halasa, N.B., Bradford, T.T., McLaughlin, G.E., Singh, A.R., Hobbs, C.V., Wellnitz, K., Staat, M.A., Coates, B.M., Crandall, H.R., Maamari, M., Havlin, K.M., Schwarz, A.J., Carroll, C.L., Levy, E.R., Moffitt, K.L., Campbell, A.P., Randolph, A.G., Chou, J.; Overcoming COVID-19 Investigators. Pre-existing Immunocompromising Conditions and Outcomes of Acute COVID-19 Patients Admitted for Pediatric Intensive Care. Clinical Infectious Diseases. (Aug 2024)
  10. Akula, S.K., Quiroz, V., D'Gama, A.M., Chiu, M.Y., Koh, H.Y., Saffari, A., Zaman, Z., Tam, A., Srouji, R., Valentine, R., Wiltrout, K., Pinto, A., Harini, C., Pearl, P.L., Poduri, A., Ebrahimi-Fakhari, D. The spectrum of movement disorders in young children with ARX-related epilepsy-dyskinesia syndrome. Annals of Clinical and Translational Neurology. (Jun 2024)
  11. Slingerland, A.L., Keusch, D.S., Lehman, L., Smith, E.R., Srivastava, S., See, A.P. Yield of genetic evaluation in non-syndromic pediatric moyamoya patients. Child's Nervous System. (Mar 2024)
  12. Srivastava, S., Koh, H.Y., Smith, L., Poduri, A., Boston Children's Hospital Neurology Phenotyping and Referral Group. Cerebral Palsy Phenotypes in Genetic Epilepsies. Pediatric Neurology. (May 2024)
  13. Santana Almansa, A., Gable, D.L., Frazier, Z., Sveden, A., Quinlan, A., Chopra, M., Lewis, S.A., Kruer, M., Poduri, A., Srivastava, S. Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders. Annals of Clinical and Translational Neurology. (Feb 2024)
  14. Borroto, M.C., Patel, H., Srivastava, S., Swanson, L.C., Keren, B., Whalen, S., Mignot, C., Wang, X., Chen, Q., Rosenfeld, J.A., McLean, S., Littlejohn, R.O., Undiagnosed Diseases Network, Emrick, L., Burrage, L.C., Attali, R., Lesca, G., Acquaviva-Bourdain, C., Sarret, C., Seaver, L.H., Platzer, K., Bartolomaeus, T., Wünsch, C., Fischer, S., Rodriguez Barreto, A.M., Granadillo, J.L., Schreiner, E., Brunet, T., Schatz, U.A., Thiffault, I., Mullegama, S.V., Michaud, J.L., Hamdan, F.F., Rossignol, E., Campeau, P.M. Cohort Expansion and Genotype-Phenotype Analysis of RAB11A-Associated Neurodevelopmental Disorder. Pediatric Neurology. (Nov 2024)
  15. Srivastava, S., Koh, H.Y., Smith, L., Poduri, A.; Boston Children's Hospital Neurology Phenotyping and Referral Group. Cerebral Palsy Phenotypes in Genetic Epilepsies. Pediatric Neurology. (Aug 2024)
  16. O'Connell, A.E., Raveenthiraraj, S., Oliveira, L.F.S., Adegboye, C., Dasuri, V.S., Qi, W., Khetani, R.S., Singh, A., Sundaram, N., Lin, J., Nandivada, P., Rincón-Cruz, L., Goldsmith, J.D., Thiagarajah, J.R., Carlone, D.L., Turner, J.R., Agrawal, P.B., Helmrath, M., Breault, D.T. WNT2B Deficiency Causes Enhanced Susceptibility to Colitis Due to Increased Inflammatory Cytokine Production. Cellular and Molecular Gastroenterology and Hepatology. (Apr 2024)
  17. Yeh, P.J., Nash, K., Charlesworth, J.E.G., Collen, L.V., Snapper, S., Uhlig, H.H. Catalyzing change: Implementing standardised reporting in monogenic inflammatory bowel disease research. Journal of Pediatric Gastroenterology and Nutrition. (Apr 2024)
  18. Yang, K., Quiroz, V., Tam, A., Srouji, R., Villanueva, X., Amarales, C., et al.. Juvenile‐onset Huntington’s disease – Spectrum and evolution of presenting movement disorders. Annals of Clinical and Translational Neurology. (2024)
  19. Danzi, M.C., Powell, E., Rebelo, A.P., Dohrn, M.F., Beijer, D., Fazal, S., et al.. The GENESIS database and tools: A decade of discovery in Mendelian genomics. Experimental Neurology. (2024)
  20. Schierbaum, L., Quiroz, V., Tam, A., Zubair, U., Tochen, L., Srouji, R., Yang, K., Ebrahimi-Fakhari, D.. Biallelic Variants in COQ4 Cause Childhood-Onset Pure Hereditary Spastic Paraplegia. Movement Disorders Clinical Practice. (2024)
  21. Martin, B.E., Vargas, S.O., Hindman, H.B., Rothstein, A., Folberg, R., Goldstein, R.D.. Sudden Death in a Child With Ocular Lesions. JAMA Ophthalmology. (2024)
  22. Arnett, A.B., Harstad, E., O'Connell, M., Hayes, K., Brewster, S., Barbaresi, W., Doan, R.N.. Rare De Novo and Inherited Genes in Familial and Nonfamilial Pediatric Attention-Deficit/Hyperactivity Disorder. JAMA Pediatrics. (Jan 2024)
  23. Bodansky, A., Mettelman, R.C., Sabatino, J.J. Jr, Vazquez, S.E., Chou, J., Novak, T., Moffitt, K.L., Miller, H.S., Kung, A.F., Rackaityte, E., Zamecnik, C.R., Rajan, J.V., Kortbawi, H., Mandel-Brehm, C., Mitchell, A., Wang, C.Y., Saxena, A., Zorn, K., Yu, D.J.L., Pogorelyy, M.V., Awad, W., Kirk, A.M., Asaki, J., Pluvinage, J.V., Wilson, M.R., Zambrano, L.D., Campbell, A.P., Overcoming COVID-19 Network Investigators, Thomas, P.G., Randolph, A.G., Anderson, M.S., DeRisi, J.L.. Molecular mimicry in multisystem inflammatory syndrome in children. Nature. (Aug 2024)
  24. Quiroz, V., Planas-Serra, L., Sveden, A., Tam, A., Kim, H.M., Zubair, U., et al.. Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia. The Journal of Clinical Investigation. (2024)
  25. Kennedy, J.C., Vargas, S.O., Fishman, M.P., et al. A Granulin Variant Causing Childhood Interstitial Lung Disease Responsive to anti-TNF-α Biologic Therapy. Med. (Feb 2025)
  26. Ham, H., Jing, H., Lamborn, I.T., Kober, M.M., Koval, A., Berchiche, Y.A., Anderson, D.E., Druey, K.M., Mandl, J.N., Isidor, B., Ferreira, C.R., Freeman, A.F., Ganesan, S., Karsak, M., Mustillo, P.J., Teo, J., Zolkipli-Cunningham, Z., Chatron, N., Lecoquierre, F., Oler, A.J., Schmid, J.P., Kuhns, D.B., Xu, X., Hauck, F., Al-Herz, W., Wagner, M., Terhal, P.A., Muurinen, M., Barlogis, V., Cruz, P., Danielson, J., Stewart, H., Loid, P., Rading, S., Keren, B., Pfundt, R., Zarember, K.A., Vill, K., Potocki, L., Olivier, K.N., Lesca, G., Faivre, L., Wong, M., Puel, A., Chou, J., Tusseau, M., Moutsopoulos, N.M., Matthews, H.F., Simons, C., Taft, R.J., Soldatos, A., Masle-Farquhar, E., Pittaluga, S., Brink, R., Fink, D.L., Kong, H.H., Kabat, J., Kim, W.S., Bierhals, T., Meguro, K., Hsu, A.P., Gu, J., Stoddard, J., Banos-Pinero, B., Slack, M., Trivellin, G., Mazel, B., Soomann, M., Li, S., Watts, V.J., Stratakis, C.A., Rodriguez-Quevedo, M.F., Bruel, A.L., Lipsanen-Nyman, M., Saultier, P., Jain, R., Lehalle, D., Torres, D., Sullivan, K.E., Barbarot, S., Neu, A., Duffourd, Y., Similuk, M., McWalter, K., Blanc, P., Bézieau, S., Jin, T., Geha, R.S., Casanova, J.L., Makitie, O.M., Kubisch, C., Edery, P., Christodoulou, J., Germain, R.N., Goodnow, C.C., Sakmar, T.P., Billadeau, D.D., Küry, S., Katanaev, V.L., Zhang, Y., Lenardo, M.J., Su, H.C.. Germline mutations in a G protein identify signaling cross-talk in T cells. Science. (Sep 2024)
  27. Töpf, A., Cox, D., Zaharieva, I.T., et al.. Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathy. Nature Genetics. (2024)
  28. Birk Möller, L., Becker, L.-L., Saffari, A., Afenjar, A., Coci, E.G., Williamson, R., et al.. The expanding clinical and genetic spectrum of DYNC1H1-related disorders. Brain. (2024)
  29. Harris, E.M., Chamseddine, S., Chu, A., Senkpeil, L., Nikiciuk, M., Al-Musa, A., et al.. Integrating circulating T follicular memory cells and autoantibody repertoires for characterization of autoimmune disorders. medRxiv. (Mar 2024)
  30. Kong, S.W., Lee, I.H., Collen, L.V., Manrai, A.K., Snapper, S.B., Mandl, K.D.. Discordance between a deep learning model and clinical-grade variant pathogenicity classification in a rare disease cohort. medRxiv. (May 2024)
  31. Wojcik, M.H., Del Rosario, M.C., Feldman, H.A., Smith, H.S., Holm, I.A.. Multidimensional and Longitudinal Impact of a Genetic Diagnosis for Critically Ill Infants. medRxiv. (Jul 2024)
  32. Maddux, A.B., Young, C.C., Kucukak, S., Zambrano, L.D., Newhams, M.M., et al.. Risk factors for health impairments in children after hospitalization for acute COVID-19 or MIS-C. Frontiers in Pediatrics. (Oct 2023)
  33. Babcock, S.J., Flores-Marin, D., Thiagarajah, J.R. The genetics of monogenic intestinal epithelial disorders. Human Genetics. (2023)
  34. Hojilo, M., Ghebrelul, M., Genetti, C.A., Smith, R., Rockowitz, S., Dsaso, E., Beggs, A.H., Agrawal, P.A., Glahn, D.C., Gonzalez-Heydrich, J.M., Brownstein, C.A.. Children with early onset psychosis have an increased burden of rare GRIN2A variants. Genes. (2023)
  35. Redfield, S.E., De-la-Torre, P., Zamani, M., Khan, H., Morris, T., et al.. PKHD1L1, A Gene Involved in the Stereociliary Coat, Causes Autosomal Recessive Nonsyndromic Hearing Loss (preprint). Genetic and Genomic Medicine. (Dec 2023)
  36. Flanagan, F.O., Holtz, A.M., Vargas, S.O., Genetti, C.A., Schmitz-Abe, K., Casey, A., Kennedy, J.C., Raby, B.A., Mullen, M.P., Fishman, M.P., Agrawal, P.B.. An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations. NPJ Genomic Medicine. (Mar 2023)
  37. Schmid, C.M., Gregor, A., Costain, G., Morel, C.F., Massingham, L., Schwab, J., et al.. LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genetics in Medicine. (Jul 2023)
  38. D'Gama, A.M., Agrawal, P.B.. Genomic medicine in neonatal care: progress and challenges. European Journal of Human Genetics. (Dec 2023)
  39. Schmid CM, Gregor A, Costain G, Morel CF, Massingham L, Schwab J, Quélin C, Faoucher M, Kaplan J, Procopio R, Saunders CJ, Cohen ASA, Lemire G, Sacharow S, O'Donnell-Luria A, Segal RJ, Kianmahd Shamshoni J, Schweitzer D, Ebrahimi-Fakhari D, Monaghan K, Palculict TB, Napier MP, Tao A, Isidor B, Moradkhani K, Reis A, Sticht H; Care4Rare Canada; Chung WK, Zweier C. LHX2 haploinsufficiency causes a variable neurodevelopmental disorder. Genetics in Medicine. (Jul 2023)
  40. Alecu JE, Saffari A, Jordan C, Srivastava S, Blackstone C, Ebrahimi-Fakhari D. De novo variants cause complex symptoms in HSP-ATL1 (SPG3A) and uncover genotype-phenotype correlations. Human Molecular Genetics. (Jan 2023)
  41. Caron V, Chassaing N, Ragge N, Boschann F, Ngu A, Meloche E, Chorfi S, Lakhani S, Ji W, Steiner L, Marcadier J, Jansen P, van der Pol L, van Hagen J, Russi A, Le Guyader , Nordenskjöld M, Nordgren A, Anderlid B, Plaisancié J, Stoltenburg C, Horn D, Drenckhahn A, Hamdan F, Lefebvre M, Bitach T, Forey P, Smirnov V, Ernould F, Jacquemont M, Grotto S, Alcantud A, Coret A, Avargues R, Srivastava S, Delorme C, Romoser S, Safina N, Saade D, Lupski J, Calame D, Geneviève D, Chatron N, Bolard C, Myers K, Dobyns W, Calvas P, DDD Stud, Salmon C, Holt R, Elmslie F, Allaire M, Prigozhin D, Tremblay A, Michaud J. Clinical and functional heterogeneity associated with the disruption of Retinoic Acid Receptor beta. Genetics in Medicine. (Apr 2023)
  42. Hojlo MA, Ghebrelul M, Genetti CA, Smith R, Rockowitz S, Deaso E, Beggs AH, Agrawal PB, Glahn DC, Gonzalez-Heydrich J, Brownstein CA. Children with Early-Onset Psychosis Have Increased Burden of Rare GRIN2A Variants. Genes (Basel). (Mar 2023)
  43. Flanagan FO, Holtz AM, Vargas SO, Genetti CA, Schmitz-Abe K, Casey A, Kennedy JC, Raby BA, Mullen MP, Fishman MP, Agrawal PB. An intronic variant in TBX4 in a single family with variable and severe pulmonary manifestations. NPJ Genomic Medicine. (Mar 2023)
  44. Zambrano LD, Wu MJ, Martin L, Malloch L, Chen S, Newhams MM, Kucukak S, Son MB, Sanders C, Patterson K, Halasa N, Fitzgerald JC, Leroue MK, Hall M, Irby K, Rowan CM, Wellnitz K, Sahni LC, Loftis L, Bradford TT, Staat M, Babbitt C, Carroll CL, Pannaraj PS, Kong M, Schuster JE, Chou J, Patel MM, Randolph AG, Campbell AP, Hobbs CV; for the Overcoming COVID-19 investigators. Risk Factors for Multisystem Inflammatory Syndrome in Children: A Case-control Investigation. Pediatric Infectious Disease Journal. (Jun 2023)
  45. Du Y, Brodeur KE, Hsu E, Chen L, Chen Q, Liu M, Cheng Q, Rosen S, Michniacki TF, Chou J, Lo MS, Platt CD, Lee PY. In cis 'benign' SOCS1 variants linked to enhanced interferon signaling and autoimmunity. Journal of Autoimmunity. (Nov 2023)
  46. LaBere B, Nguyen AA, Habiballah SB, Elkins M, Imperial J, Li B, Devana S, Timilsina S, Stubbs SB, Joerger J, Chou J, Platt CD. Clinical utility of measuring CD4+ T follicular cells in patients with immune dysregulation. Journal of Autoimmunity. (Nov 2023)
  47. Irwin M, Tanawattanacharoen VK, Turner A, Son MBF, Hale RC, Platt CD, Putra J, Schmidt BAR, Wasserman MG. A case of neonatal sweet syndrome associated with mevalonate kinase deficiency. Pediatric Rheumatology Online Journal. (Sep 2023)
  48. Nguyen AA, Habiballah SB, LaBere B, Day-Lewis M, Elkins M, Al-Musa A, Chu A, Jones J, Fried AJ, McDonald D, Hoytema van Konijnenburg DP, Rockowitz S, Sliz P, Oettgen HC, Schneider LC, MacGinnitie A, Bartnikas LM, Platt CD, Ohsumi TK, Chou J. Rethinking Immunological Risk: A Retrospective Cohort Study of Severe SARS-CoV-2 Infections in Individuals With Congenital Immunodeficiencies. Journal of Allergy and Clinical Immunology: In Practice. (Nov 2023)
  49. Collen LV, Mitsialis V, Kim DY, Bresnahan M, Yang J, Tuthill M, Combs A, Barends J, Field M, Liu E, Bearup R, Okoroafor I, Klein C, Muise AM, Bousvaros A, Ouahed J, Snapper SB. Efficacy and Safety of Anti-Tumor Necrosis Factor Alpha in Very Early Onset Inflammatory Bowel Disease. Inflammatory Bowel Diseases. (Oct 2023)
  50. Hsieh EW, Snapper SB, de Zoeten EF. Inborn errors of immunity and mucosal immunity. Frontiers in Immunology. (May 2023)
  51. Saffari A, Ebrahimi-Fakhari D. Reply to: Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST. Movement Disorders. (May 2023)
  52. Magnotto JC, Mancini A, Bird K, Montenegro L, Tütüncüler F, Pereira SA, Simas V, Garcia L, Roberts SA, Macedo D, Magnuson M, Gagliardi P, Mauras N, Witchel SF, Carroll RS, Latronico AC, Kaiser UB, Abreu AP. Novel MKRN3 Missense Mutations Associated With Central Precocious Puberty Reveal Distinct Effects on Ubiquitination. Journal of Clinical Endocrinology & Metabolism. (Jun 2023)
  53. Collen LV, Snapper SB, Gordon RJ. Vertebral Compression Fractures in Very Early Onset Inflammatory Bowel Disease. JPGN Reports. (Feb 2023)
  54. Patik I, Redhu NS, Eran A, Bao B, Nandy A, Tang Y, El Sayed S, Shen Z, Glickman J, Fox JG, Snapper SB, Horwitz BH. The IL-10 receptor inhibits cell extrinsic signals necessary for STAT1-dependent macrophage accumulation during colitis. Mucosal Immunology. (Jun 2023)
  55. Koh HY, Smith L, Wiltrout KN, Podury A, Chourasia N, D’Gama AM, Park M, Knight D, Sexton EL, Koh JJ, Oby B, Pinsky R, Shao DD, French CE, Shao W, Rockowitz S, Sliz P, Zhang B, Mahida S, Moufawad El Achkar C, Yuskaitis CJ, Olson HE, Sheidley BR, Poduri AH, BCH Neurology Referral and Phenotyping Group. Utility of Exome Sequencing for Diagnosis in Unexplained Pediatric-Onset Epilepsy. JAMA Network Open. (2023)
  56. Benamar M, Chen Q, Chou J, Julé AM, Boudra R, Contini P, Crestani E, Lai PS, Wang M, Fong J, Rockwitz S, Lee P, Chan TMF, Altun EZ, Kepenekli E, Karakoc-Aydiner E, Ozen A, Boran P, Aygun F, Onal P, Sakalli AAK, Cokugras H, Gelmez MY, Oktelik FB, Cetin EA, Zhong Y, Taylor ML, Irby K, Halasa NB, Mack EH; Overcoming COVID-19 Investigators; Signa S, Prigione I, Gattorno M, Cotugno N, Amodio D, Geha RS, Son MB, Newburger J, Agrawal PB, Volpi S, Palma P, Kiykim A, Randolph AG, Deniz G, Baris S, De Palma R, Schmitz-Abe K, Charbonnier LM, Henderson LA, Chatila TA. The Notch1/CD22 signaling axis disrupts Treg function in SARS-CoV-2-associated multisystem inflammatory syndrome in children. Journal of Clinical Investigation. (Jan 2023)
  57. Kalashyan M, Raghunathan K, Oller H, Bayer MT, Jimenez L, Roland JT, Kolobova E, Hagen SJ, Goldsmith JD, Shub MD, Goldenring JR, Kaji I, Thiagarajah JR. Patient-derived Enteroids provide a Platform for the Development of Therapeutic Approaches in Microvillus Inclusion Disease. Journal of Clinical Investigation. (Oct 2023)
  58. Huang Z, Brodeur KE, Chen L, Du Y, Wobma H, Hsu EE, Liu M, Chang JC, Chang MH, Chou J, Day-Lewis M, Dedeoglu F, Halyabar O, Lederer JA, Li T, Lo MS, Lu M, Meidan E, Newburger JW, Randolph AG, Son MB, Sundel RP, Taylor ML, Wu H, Zhou Q, Canna SW, Wei K, Henderson LA, Nigrovic PA, Lee PY. Type I interferon signature and cycling lymphocytes in macrophage activation syndrome. Journal of Clinical Investigation. November 2023.
  59. Bucciol G, Moens L, Ogishi M, Rinchai D, Matuozzo D, Momenilandi M, Kerrouche N, Cale CM, Treffeisen ER, Al Salamah M, Al-Saud BK, Lachaux A, Duclaux-Loras R, Meignien M, Bousfiha A, Benhsaien I, Shcherbina A, Roppelt A, COVID Human Genetic Effort, Gothe F, Houhou-Fidouh N, Hackett SJ, Bartnikas LM, Maciag MC, Alosaimi MF, Chou J, Mohammed RW, Freij BJ, Jouanguy E, Zhang SY, Boisson-Dupuis S, Béziat V, Zhang Q, Duncan CJ, Hambleton S, Casanova JL, Meyts I. Human inherited complete STAT2 deficiency underlies inflammatory viral diseases. Journal of Clinical Investigation. June 2023.
  60. Gold NB, Adelson SM, Shah N, Williams S, Bick SL, Zoltick ES, Gold JI, Strong A, Ganetzky R, Roberts AE, Walker M, Holtz AM, Sankaran VG, Delmonte O, Tan W, Holm IA, Thiagarajah JR, Kamihara J, Comander J, Place E, Wiggs J, Green RC. Perspectives of Rare Disease Experts on Newborn Genome Sequencing. JAMA Network Open. May 2023.
  61. Wu Y, Gettler K, Kars ME, Giri M, Li D, Bayrak CS, Zhang P, Jain A, Maffucci P, Sabic K, Van Vleck T, Nadkarni G, Denson LA, Ostrer H, Levine AP, Schiff ER, Segal AW, Kugathasan S, Stenson PD, Cooper DN, Schumm LP, Snapper S, Daly MJ, Haritunians T, Duerr RH, Silverberg MS, Rioux JD, Brant SR, McGovern DPB, Cho JH, Itan Y. Identifying high-impact variants and genes in exomes of Ashkenazi Jewish inflammatory bowel disease patients. Nature Communications. April 2023.
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