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Page 1
Monoallelic loss-of-function BMP2 variants result in BMP2-related skeletal dysplasia spectrum.
Priestley JRC, Deshwar AR, Murthy H, D'Agostino MD, Dupuis L, Gangaram B, Gray C, Jobling R, Pannia E, Platzer K, Prescott K, Redman M, Rippert AL, Rosenfeld JA, Scott DA, Wang YW, Schmederer Z, Dalal A, Sarma AS, Skraban C, Dowling JJ, Mendoza-Londono R, Slavotinek A, Bhoj EJ. Priestley JRC, et al. Among authors: murthy h. Genet Med. 2023 Aug;25(8):100863. doi: 10.1016/j.gim.2023.100863. Epub 2023 Apr 28. Genet Med. 2023. PMID: 37125634 Free article.
Variants in CLDN5 cause a syndrome characterized by seizures, microcephaly and brain calcifications.
Deshwar AR, Cytrynbaum C, Murthy H, Zon J, Chitayat D, Volpatti J, Newbury-Ecob R, Ellard S, Allen HL, Yu EP, Noche R, Walker S, Scherer SW, Mahida S, Elitt CM, Nicolas G, Goldenberg A, Saugier-Veber P, Lecoquierre F, Dabaj I, Meddaugh H, Marble M, Keppler-Noreuil KM, Drayson L, Barañano KW, Chassevent A, Agre K, Létard P, Bilan F, Le Guyader G, Laquerrière A, Ramsey K, Henderson L, Brady L, Tarnopolsky M, Bainbridge M, Friedman J, Capri Y, Athayde L, Kok F, Gurgel-Giannetti J, Ramos LLP, Blaser S, Dowling JJ, Weksberg R. Deshwar AR, et al. Among authors: murthy h. Brain. 2023 Jun 1;146(6):2285-2297. doi: 10.1093/brain/awac461. Brain. 2023. PMID: 36477332
Mayo Genetic Risk Models for Newly Diagnosed Acute Myeloid Leukemia Treated With Venetoclax + Hypomethylating Agent.
Gangat N, Elbeih A, Ghosoun N, McCullough K, Aperna F, Johnson IM, Abdelmagid M, Al-Kali A, Alkhateeb HB, Begna KH, Elliott M, Mangaonkar A, Matin A, Saliba AN, Hefazi Torghabeh M, Litzow MR, Hogan W, Shah M, Patnaik MM, Pardanani A, Badar T, Murthy H, Foran J, Palmer J, Sproat L, Khera N, Arana Yi C, Yates S, Sneider A, Dworkin E, Patel AA, Bazinet A, Senapati J, Bataller A, DiNardo C, Kadia T, Tefferi A. Gangat N, et al. Among authors: murthy h. Am J Hematol. 2024 Dec 13. doi: 10.1002/ajh.27564. Online ahead of print. Am J Hematol. 2024. PMID: 39671248
T-cell immune cluster analysis using CyTOF identifies unique subgroups of patients with acute myeloid leukemia.
Badar T, Knutson K, Foran JM, Gangat N, Pavelko KD, Kaufmann SH, Litzow MR, Murthy HS, Cogen D, Ushman M, Arsana A, Al-Kali A, Alkhateeb HB, Tefferi A, Patnaik MM, Shah MV. Badar T, et al. Among authors: murthy hs. Blood Adv. 2024 Nov 21:bloodadvances.2024014553. doi: 10.1182/bloodadvances.2024014553. Online ahead of print. Blood Adv. 2024. PMID: 39571168 No abstract available.
345 results