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Emergence of the natural history of Myhre syndrome: 47 patients evaluated in the Massachusetts General Hospital Myhre Syndrome Clinic (2016-2023).
Lin AE, Scimone ER, Thom RP, Balaguru D, Kinane TB, Moschovis PP, Cohen MS, Tan W, Hague CD, Dannheim K, Levitsky LL, Lilly E, DiGiacomo DV, Masse KM, Kadzielski SM, Zar-Kessler CA, Ginns LC, Neumeyer AM, Colvin MK, Elder JS, Learn CP, Mou H, Weagle KM, Buch KA, Butler WE, Alhadid K, Musolino PL, Sultana S, Bandyopadhyay D, Rapalino O, Peacock ZS, Chou EL, Heidary G, Dorfman AT, Morris SA, Bergin JD, Rayment JH, Schimmenti LA, Lindsay ME; MGH Myhre Syndrome Study Group. Lin AE, et al. Among authors: digiacomo dv. Am J Med Genet A. 2024 Oct;194(10):e63638. doi: 10.1002/ajmg.a.63638. Epub 2024 May 23. Am J Med Genet A. 2024. PMID: 38779990 Free PMC article.
"Deficiency in ELF4, X-Linked": a Monogenic Disease Entity Resembling Behçet's Syndrome and Inflammatory Bowel Disease.
Olyha SJ, O'Connor SK, Kribis M, Bucklin ML, Uthaya Kumar DB, Tyler PM, Alam F, Jones KM, Sheikha H, Konnikova L, Lakhani SA, Montgomery RR, Catanzaro J, Du H, DiGiacomo DV, Rothermel H, Moran CJ, Fiedler K, Warner N, Hoppenreijs EPAH, van der Made CI, Hoischen A, Olbrich P, Neth O, Rodríguez-Martínez A, Lucena Soto JM, van Rossum AMC, Dalm VASH, Muise AM, Lucas CL. Olyha SJ, et al. Among authors: digiacomo dv. J Clin Immunol. 2024 Jan 17;44(2):44. doi: 10.1007/s10875-023-01610-8. J Clin Immunol. 2024. PMID: 38231408
A 9-Year-Old Girl With Painful "Spider Bites".
DiGiacomo D, Rickey L, Kirkorian A, Loomis J, Combs S, Jacobs S, Long M. DiGiacomo D, et al. Clin Pediatr (Phila). 2023 Jun;62(6):645-648. doi: 10.1177/00099228221139426. Epub 2022 Nov 22. Clin Pediatr (Phila). 2023. PMID: 36415052 No abstract available.
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) vaccine response in adults with predominantly antibody deficiency.
Zhang AM, Elmoursi A, DiGiacomo DV, Zhou B, Tandon M, Hong JS, Yang NJ, Ong MS, Dighe AS, Berrios C, Poznansky MC, Iafrate AJ, Naranbhai V, Balazs A, Pillai S, Farmer JR, Barmettler S. Zhang AM, et al. Among authors: digiacomo dv. J Allergy Clin Immunol Glob. 2024 Feb 20;3(2):100234. doi: 10.1016/j.jacig.2024.100234. eCollection 2024 May. J Allergy Clin Immunol Glob. 2024. PMID: 38544577 Free PMC article.
17 results