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Further clinical and molecular characterization of an XLID syndrome associated with BRWD3 variants, a gene implicated in the leukemia-related JAK-STAT pathway.
Delanne J, Lecat M, Blackburn PR, Klee EW, Stumpel CTRM, Stegmann S, Stevens SJC, Nava C, Heron D, Keren B, Mahida S, Naidu S, Babovic-Vuksanovic D, Herkert JC, Torring PM, Kibæk M, De Bie I, Pfundt R, Hendriks YMC, Ousager LB, Bend R, Warren H, Skinner SA, Lyons MJ, Pöe C, Chevarin M, Jouan T, Garde A, Thomas Q, Kuentz P, Tisserant E, Duffourd Y, Philippe C, Faivre L, Thauvin-Robinet C. Delanne J, et al. Among authors: naidu s. Eur J Med Genet. 2023 Jan;66(1):104670. doi: 10.1016/j.ejmg.2022.104670. Epub 2022 Nov 19. Eur J Med Genet. 2023. PMID: 36414205 Review.
Craniofacial features of POLR3-related leukodystrophy caused by biallelic variants in POLR3A, POLR3B and POLR1C.
Mirchi A, Guay SP, Tran LT, Wolf NI, Vanderver A, Brais B, Sylvain M, Pohl D, Rossignol E, Saito M, Moutton S, González-Gutiérrez-Solana L, Thiffault I, Kruer MC, Moron DG, Kauffman M, Goizet C, Sztriha L, Glamuzina E, Melançon SB, Naidu S, Retrouvey JM, Lacombe S, Bernardino-Cuesta B, De Bie I, Bernard G. Mirchi A, et al. Among authors: naidu s. J Med Genet. 2023 Oct;60(10):1026-1034. doi: 10.1136/jmg-2023-109223. Epub 2023 May 16. J Med Genet. 2023. PMID: 37197783 Free PMC article.
Aficamten for Symptomatic Obstructive Hypertrophic Cardiomyopathy.
Maron MS, Masri A, Nassif ME, Barriales-Villa R, Arad M, Cardim N, Choudhury L, Claggett B, Coats CJ, Düngen HD, Garcia-Pavia P, Hagège AA, Januzzi JL, Lee MMY, Lewis GD, Ma CS, Michels M, Olivotto I, Oreziak A, Owens AT, Spertus JA, Solomon SD, Tfelt-Hansen J, van Sinttruije M, Veselka J, Watkins H, Jacoby DL, Heitner SB, Kupfer S, Malik FI, Meng L, Wohltman A, Abraham TP; SEQUOIA-HCM Investigators. Maron MS, et al. N Engl J Med. 2024 May 30;390(20):1849-1861. doi: 10.1056/NEJMoa2401424. Epub 2024 May 13. N Engl J Med. 2024. PMID: 38739079 Clinical Trial.
2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.
Writing Committee Members; Ommen SR, Ho CY, Asif IM, Balaji S, Burke MA, Day SM, Dearani JA, Epps KC, Evanovich L, Ferrari VA, Joglar JA, Khan SS, Kim JJ, Kittleson MM, Krittanawong C, Martinez MW, Mital S, Naidu SS, Saberi S, Semsarian C, Times S, Waldman CB. Writing Committee Members, et al. Among authors: naidu ss. J Am Coll Cardiol. 2024 Jun 11;83(23):2324-2405. doi: 10.1016/j.jacc.2024.02.014. Epub 2024 May 8. J Am Coll Cardiol. 2024. PMID: 38727647
2024 AHA/ACC/AMSSM/HRS/PACES/SCMR Guideline for the Management of Hypertrophic Cardiomyopathy: A Report of the American Heart Association/American College of Cardiology Joint Committee on Clinical Practice Guidelines.
Ommen SR, Ho CY, Asif IM, Balaji S, Burke MA, Day SM, Dearani JA, Epps KC, Evanovich L, Ferrari VA, Joglar JA, Khan SS, Kim JJ, Kittleson MM, Krittanawong C, Martinez MW, Mital S, Naidu SS, Saberi S, Semsarian C, Times S, Waldman CB. Ommen SR, et al. Among authors: naidu ss. Circulation. 2024 Jun 4;149(23):e1239-e1311. doi: 10.1161/CIR.0000000000001250. Epub 2024 May 8. Circulation. 2024. PMID: 38718139 Free article. Review.
Deficiency of the Deubiquitinase UCHL1 Attenuates Pulmonary Arterial Hypertension.
Tang H, Gupta A, Morrisroe SA, Bao C, Schwantes-An TH, Gupta G, Liang S, Sun Y, Chu A, Luo A, Ramamoorthi Elangovan V, Sangam S, Shi Y, Naidu SR, Jheng JR, Ciftci-Yilmaz S, Warfel NA, Hecker L, Mitra S, Coleman AW, Lutz KA, Pauciulo MW, Lai YC, Javaheri A, Dharmakumar R, Wu WH, Flaherty DP, Karnes JH, Breuils-Bonnet S, Boucherat O, Bonnet S, Yuan JX, Jacobson JR, Duarte JD, Nichols WC, Garcia JGN, Desai AA. Tang H, et al. Among authors: naidu sr. Circulation. 2024 May 2. doi: 10.1161/CIRCULATIONAHA.123.065304. Online ahead of print. Circulation. 2024. PMID: 38695173
849 results