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Expanding the clinical spectrum of biglycan-related Meester-Loeys syndrome.
Meester JAN, Hebert A, Bastiaansen M, Rabaut L, Bastianen J, Boeckx N, Ashcroft K, Atwal PS, Benichou A, Billon C, Blankensteijn JD, Brennan P, Bucks SA, Campbell IM, Conrad S, Curtis SL, Dasouki M, Dent CL, Eden J, Goel H, Hartill V, Houweling AC, Isidor B, Jackson N, Koopman P, Korpioja A, Kraatari-Tiri M, Kuulavainen L, Lee K, Low KJ, Lu AC, McManus ML, Oakley SP, Oliver J, Organ NM, Overwater E, Revencu N, Trainer AH, Trivedi B, Turner CLS, Whittington R, Zankl A, Zentner D, Van Laer L, Verstraeten A, Loeys BL. Meester JAN, et al. Among authors: mcmanus ml. NPJ Genom Med. 2024 Mar 26;9(1):22. doi: 10.1038/s41525-024-00413-z. NPJ Genom Med. 2024. PMID: 38531898 Free PMC article.
Recommendations for assessing appearance concerns related to plexiform and cutaneous neurofibromas in neurofibromatosis 1 clinical trials.
Merker VL, Thompson HL, Wolters PL, Buono FD, Hingtgen CM, Rosser T, Barton B, Barnett C, Smith T, Haberkamp D, McManus ML, Baldwin A, Moss IP, Röhl C, Martin S. Merker VL, et al. Among authors: mcmanus ml. Clin Trials. 2024 Feb;21(1):6-17. doi: 10.1177/17407745231205577. Epub 2023 Dec 23. Clin Trials. 2024. PMID: 38140900 Free PMC article.
Gene-targeted therapy for neurofibromatosis and schwannomatosis: The path to clinical trials.
Staedtke V, Anstett K, Bedwell D, Giovannini M, Keeling K, Kesterson R, Kim Y, Korf B, Leier A, McManus ML, Sarnoff H, Vitte J, Walker JA, Plotkin SR, Wallis D. Staedtke V, et al. Among authors: mcmanus ml. Clin Trials. 2024 Feb;21(1):51-66. doi: 10.1177/17407745231207970. Epub 2023 Nov 8. Clin Trials. 2024. PMID: 37937606 Free article.
Potential endpoints for assessment of bone health in persons with neurofibromatosis type 1.
Gross AM, Plotkin SR, Watts NB, Fisher MJ, Klesse LJ, Lessing AJ, McManus ML, Larson AN, Oberlander B, Rios JJ, Sarnoff H, Simpson BN, Ullrich NJ, Stevenson DA. Gross AM, et al. Among authors: mcmanus ml. Clin Trials. 2024 Feb;21(1):29-39. doi: 10.1177/17407745231201338. Epub 2023 Sep 29. Clin Trials. 2024. PMID: 37772407 Free PMC article. Review.
TOPORS as a novel causal gene for Joubert syndrome.
Strong A, Qu HQ, Cullina S, McManus ML, Zackai EH, Glessner J, Kenny EE, Hakonarson H. Strong A, et al. Among authors: mcmanus ml. Am J Med Genet A. 2023 Aug;191(8):2156-2163. doi: 10.1002/ajmg.a.63303. Epub 2023 May 25. Am J Med Genet A. 2023. PMID: 37227088
62 results