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Page 1
Unravelling Facets of MECOM-Associated Syndrome: Somatic Genetic Rescue, Clonal Hematopoiesis and Phenotype Expansion.
Venugopal P, Arts P, Fox LC, Simons A, Hiwase DK, Bardy PG, Narcis A, Ross DM, van Vulpen LFD, Buijs A, Bolton KL, Getta B, Furlong E, Carter T A/Prof, Krapels I, Hoeks MPA, Al Kindy A, Al Kindy F, de Munnik S, Evans P, Frank MSB, Bournazos A, Cooper ST, Ha TT, Jackson MR, Arriola-Martinez LA, Phillips K, Brennan Y, Bakshi M, Ambler K, Gao S, Kassahn KS, Kenyon R, Hung K MBBS FRACP FRCPA, Babic M, McGovern A, Rawlings L, Valkulin C, Dejong L, Fathi R, McRae S, Myles N, Ladon D, Jongmans MC, Kuiper RP, Poplawski N, Barbaro PM, Blombery P, Brown AL, Hahn CN, Scott HS. Venugopal P, et al. Among authors: scott hs. Blood Adv. 2024 Apr 25:bloodadvances.2023012331. doi: 10.1182/bloodadvances.2023012331. Online ahead of print. Blood Adv. 2024. PMID: 38662475 No abstract available.
Extending the new era of genomic testing into pregnancy management: A proposed model for Australian prenatal services.
Rogers A, De Jong L, Waters W, Rawlings LH, Simons K, Gao S, Soubrier J, Kenyon R, Lin M, King R, Lawrence DM, Muller P, Leblanc S, McGregor L, Sallevelt SCEH, Liebelt J, Hardy TSE, Fletcher JM, Scott HS, Kulkarni A, Barnett CP, Kassahn KS. Rogers A, et al. Among authors: scott hs. Aust N Z J Obstet Gynaecol. 2024 Apr 5. doi: 10.1111/ajo.13814. Online ahead of print. Aust N Z J Obstet Gynaecol. 2024. PMID: 38577897
IDH-mutant myeloid neoplasms are associated with seronegative rheumatoid arthritis and innate immune activation.
Hong LE, Wechalekar MD, Kutyna M, Small A, Lim K, Thompson-Peach C, Li JJ, Chhetri R, Scott HS, Brown A, Hahn CN, Yeung DT, Sajid S, Robinson N, Thomas R, Branford S, D'Andrea RJ, Samaraweera SE, Patnaik M, Proudman S, Thomas D, Kok CH, Shah MV, Hiwase DK. Hong LE, et al. Among authors: scott hs. Blood. 2024 May 2;143(18):1873-1877. doi: 10.1182/blood.2023023593. Blood. 2024. PMID: 38457663 Free article.
Detecting missed diagnoses of spinal muscular atrophy in genome, exome, and panel sequencing datasets.
Weisburd B, Sharma R, Pata V, Reimand T, Ganesh VS, Austin-Tse C, Osei-Owusu I, O'Heir E, O'Leary M, Pais L, Stafki SA, Daugherty AL, Bönnemann CG, Donkervoort S, Haliloğlu G, Kang PB, Ravenscroft G, Laing N, Scott HS, Töpf A, Straub V, Pajusalu S, Õunap K, Tiao G, Rehm HL, O'Donnell-Luria A. Weisburd B, et al. Among authors: scott hs. medRxiv [Preprint]. 2024 Feb 27:2024.02.11.24302646. doi: 10.1101/2024.02.11.24302646. medRxiv. 2024. PMID: 38405995 Free PMC article. Preprint.
PAM variants in patients with thyrotrophinomas, cyclical Cushing's disease and prolactinomas.
De Sousa SMC, Shen A, Yates CJ, Clifton-Bligh R, Santoreneos S, King J, Toubia J, Trivellin G, Lania AG, Stratakis CA, Torpy DJ, Scott HS. De Sousa SMC, et al. Among authors: scott hs. Front Endocrinol (Lausanne). 2023 Nov 23;14:1305606. doi: 10.3389/fendo.2023.1305606. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 38075079 Free PMC article.
Therapeutic techniques and session impact: A practice-research network study in private practice.
Castonguay LG, Youn SJ, Boswell JF, Ryan Kilcullen J, Xiao H, McAleavey AA, Boutselis MA, Braver M, Chiswick NR, Hemmelstein NA, Jackson JS, Lytle RA, Morford ME, Scott HS, Spayd CS, O'Leary Wiley M. Castonguay LG, et al. Among authors: scott hs. Psychother Res. 2023 Nov 9:1-13. doi: 10.1080/10503307.2023.2262099. Online ahead of print. Psychother Res. 2023. PMID: 37946364
284 results