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Page 1
Reported Demographics of Primary Immunodeficiency Diseases in the United States.
Ferrante di Ruffano L, Carr E, Edwards M, Arber MR, Grilo SA, Posey JE, Abdalgani M, Orange JS. Ferrante di Ruffano L, et al. Among authors: orange js. J Allergy Clin Immunol Pract. 2025 Sep;13(9):2460-2474. doi: 10.1016/j.jaip.2025.06.015. J Allergy Clin Immunol Pract. 2025. PMID: 40947178 Free article.
Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.
Burrage LC, Reynolds JJ, Baratang NV, Phillips JB, Wegner J, McFarquhar A, Higgs MR, Christiansen AE, Lanza DG, Seavitt JR, Jain M, Li X, Parry DA, Raman V, Chitayat D, Chinn IK, Bertuch AA, Karaviti L, Schlesinger AE, Earl D, Bamshad M, Savarirayan R, Doddapaneni H, Muzny D, Jhangiani SN, Eng CM, Gibbs RA, Bi W, Emrick L, Rosenfeld JA, Postlethwait J, Westerfield M, Dickinson ME, Beaudet AL, Ranza E, Huber C, Cormier-Daire V, Shen W, Mao R, Heaney JD, Orange JS; University of Washington Center for Mendelian Genomics; Undiagnosed Diseases Network; Bertola D, Yamamoto GL, Baratela WAR, Butler MG, Ali A, Adeli M, Cohn DH, Krakow D, Jackson AP, Lees M, Offiah AC, Carlston CM, Carey JC, Stewart GS, Bacino CA, Campeau PM, Lee B. Burrage LC, et al. Among authors: orange js. Am J Hum Genet. 2019 Mar 7;104(3):422-438. doi: 10.1016/j.ajhg.2019.01.007. Epub 2019 Feb 14. Am J Hum Genet. 2019. PMID: 30773277 Free PMC article.
Centers for Mendelian Genomics: A decade of facilitating gene discovery.
Baxter SM, Posey JE, Lake NJ, Sobreira N, Chong JX, Buyske S, Blue EE, Chadwick LH, Coban-Akdemir ZH, Doheny KF, Davis CP, Lek M, Wellington C, Jhangiani SN, Gerstein M, Gibbs RA, Lifton RP, MacArthur DG, Matise TC, Lupski JR, Valle D, Bamshad MJ, Hamosh A, Mane S, Nickerson DA; Centers for Mendelian Genomics Consortium; Rehm HL, O'Donnell-Luria A. Baxter SM, et al. Genet Med. 2022 Apr;24(4):784-797. doi: 10.1016/j.gim.2021.12.005. Epub 2022 Feb 9. Genet Med. 2022. PMID: 35148959 Free PMC article. Review.
Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay.
Machol K, Rousseau J, Ehresmann S, Garcia T, Nguyen TTM, Spillmann RC, Sullivan JA, Shashi V, Jiang YH, Stong N, Fiala E, Willing M, Pfundt R, Kleefstra T, Cho MT, McLaughlin H, Rosello Piera M, Orellana C, Martínez F, Caro-Llopis A, Monfort S, Roscioli T, Nixon CY, Buckley MF, Turner A, Jones WD, van Hasselt PM, Hofstede FC, van Gassen KLI, Brooks AS, van Slegtenhorst MA, Lachlan K, Sebastian J, Madan-Khetarpal S, Sonal D, Sakkubai N, Thevenon J, Faivre L, Maurel A, Petrovski S, Krantz ID, Tarpinian JM, Rosenfeld JA, Lee BH; Undiagnosed Diseases Network; Campeau PM. Machol K, et al. Am J Hum Genet. 2019 Jan 3;104(1):164-178. doi: 10.1016/j.ajhg.2018.11.007. Epub 2018 Dec 20. Am J Hum Genet. 2019. PMID: 30580808 Free PMC article.
Immunodeficiency disorders. Preface.
Orange JS. Orange JS. Immunol Allergy Clin North Am. 2008 May;28(2):xv-xviii. doi: 10.1016/j.iac.2008.02.003. Immunol Allergy Clin North Am. 2008. PMID: 18424330 No abstract available.
Management of Food Allergy in Schools: Clinical Report.
Sicherer SH, O'Leary S, Pistiner M, Wang J; Section on Allergy and Immunology; Council on School Health. Sicherer SH, et al. Pediatrics. 2025 Dec 1;156(6):e2025073168. doi: 10.1542/peds.2025-073168. Pediatrics. 2025. PMID: 40990176
Proceedings of the second Artificial Intelligence in Primary Immunodeficiency (AIPI) meeting.
Rivière JG, Bastarache L, Campos LC, Carot-Sans G, Chin A, Chunara R, Cunningham-Rundles C, Erra L, Farmer J, Garcelon N, Hsieh E, Leavis H, Lee S, Liu L, Kusters M, Lloyd BC, Martinson AK, Mester R, Moore JB, Moshous D, Orange JS, Parrish N, Parker SH, Pasaniuc B, Peng XP, Pergent M, Piera-Jiménez J, Quinn J, Ramesh S, Roberts K, Robinson PN, Savova G, Scalchunes C, Seidel MG, Simoneau R, Soler-Palacin P, Sullivan KE, Van Gijn M, Wi CI, Zhou D, Tenembaum V, Butte MJ, Rider NL. Rivière JG, et al. Among authors: orange js. J Allergy Clin Immunol. 2025 Sep 17:S0091-6749(25)00950-9. doi: 10.1016/j.jaci.2025.09.002. Online ahead of print. J Allergy Clin Immunol. 2025. PMID: 40972982 Free article.
The crucial impact of NIH funding on allergy/immunology patient care and research.
Barrett NA, Nowak-Wegrzyn A, Bacharier LB, Bansal P, Kabbash LG, Orange JS, Williams PV, Virant FS, Davis CM, Brandt R, Fleisher TA; American Academy of Allergy, Asthma & Immunology Scientific Community Task Force for Allergy/Immunology Research. Barrett NA, et al. Among authors: orange js. J Allergy Clin Immunol Glob. 2025 Jun 3;4(3):100509. doi: 10.1016/j.jacig.2025.100509. eCollection 2025 Aug. J Allergy Clin Immunol Glob. 2025. PMID: 40583957 Free PMC article. No abstract available.
The crucial impact of NIH funding on allergy/immunology patient care and research.
Barrett NA, Nowak-Wegrzyn A, Bacharier LB, Bansal P, Kabbash LG, Orange JS, Williams PV, Virant FS, Davis CM, Brandt R, Fleisher TA; American Academy of Allergy, Asthma & Immunology Scientific Community Task Force for Allergy/Immunology Research. Barrett NA, et al. Among authors: orange js. J Allergy Clin Immunol. 2025 Aug;156(2):320-321. doi: 10.1016/j.jaci.2025.06.003. Epub 2025 Jun 23. J Allergy Clin Immunol. 2025. PMID: 40553032 Free article. No abstract available.
Clinical, immunologic, and genetic characteristics of 148 patients with natural killer cell deficiency.
Abdalgani M, Hernandez ER, Pedroza LA, Chinn IK, Forbes Satter LR, Rider NL, Banerjee PP, Poli MC, Mahapatra S, Canter D, Cao T, Shawver LM, Nandiwada SL, Lupski JR, Posey JE, Ramakrishnan R, Mace EM, Orange JS. Abdalgani M, et al. Among authors: orange js. J Allergy Clin Immunol. 2025 May;155(5):1623-1634. doi: 10.1016/j.jaci.2025.01.030. Epub 2025 Feb 4. J Allergy Clin Immunol. 2025. PMID: 39914554 Free article.
380 results