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Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Lipska-Ziętkiewicz BS. Savige J, et al. Among authors: watson e. Eur J Hum Genet. 2021 Aug;29(8):1186-1197. doi: 10.1038/s41431-021-00858-1. Epub 2021 Apr 15. Eur J Hum Genet. 2021. PMID: 33854215 Free PMC article.
Guidelines for Genetic Testing and Management of Alport Syndrome.
Savige J, Lipska-Zietkiewicz BS, Watson E, Hertz JM, Deltas C, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Renieri A, Storey H, Flinter F. Savige J, et al. Among authors: watson e. Clin J Am Soc Nephrol. 2022 Jan;17(1):143-154. doi: 10.2215/CJN.04230321. Epub 2021 Dec 20. Clin J Am Soc Nephrol. 2022. PMID: 34930753 Free PMC article.
Basement membrane defects in CD151-associated glomerular disease.
Naylor RW, Watson E, Williamson S, Preston R, Davenport JB, Thornton N, Lowe M, Williams M, Lennon R. Naylor RW, et al. Among authors: watson e. Pediatr Nephrol. 2022 Dec;37(12):3105-3115. doi: 10.1007/s00467-022-05447-y. Epub 2022 Mar 12. Pediatr Nephrol. 2022. PMID: 35278129 Free PMC article.
Correction: Consensus statement on standards and guidelines for the molecular diagnostics of Alport syndrome: refining the ACMG criteria.
Savige J, Storey H, Watson E, Hertz JM, Deltas C, Renieri A, Mari F, Hilbert P, Plevova P, Byers P, Cerkauskaite A, Gregory M, Cerkauskiene R, Ljubanovic DG, Becherucci F, Errichiello C, Massella L, Aiello V, Lennon R, Hopkinson L, Koziell A, Lungu A, Rothe HM, Hoefele J, Zacchia M, Martic TN, Gupta A, van Eerde A, Gear S, Landini S, Palazzo V, Al-Rabadi L, Claes K, Corveleyn A, Van Hoof E, van Geel M, Williams M, Ashton E, Belge H, Ars E, Bierzynska A, Gangemi C, Lipska-Ziętkiewicz BS. Savige J, et al. Among authors: watson e. Eur J Hum Genet. 2024 Jan;32(1):132. doi: 10.1038/s41431-023-01288-x. Eur J Hum Genet. 2024. PMID: 36721056 Free PMC article. No abstract available.
Ascertaining pathogenicity of genetic variants: caution required.
Arslan Z, Watson E, Bockenhauer D. Arslan Z, et al. Among authors: watson e. Pediatr Nephrol. 2023 May;38(5):1695-1696. doi: 10.1007/s00467-023-05909-x. Epub 2023 Feb 21. Pediatr Nephrol. 2023. PMID: 36809442 No abstract available.
Development and Standardization of an Osteoradionecrosis Classification System in Head and Neck Cancer: Implementation of a Risk-Based Model.
Watson E EE, Hueniken K, Lee J, Huang SH, El Maghrabi A, Xu W, Moreno AC, Tsai CJ, Hahn E, McPartlin AJ, Yao CMKL, Goldstein DP, De Almeida JR, Waldon JN, Fuller CD, Hope AJ, Ruggiero SL, Glogauer M, Hosni AA. Watson E EE, et al. J Clin Oncol. 2024 May 1:JCO2301951. doi: 10.1200/JCO.23.01951. Online ahead of print. J Clin Oncol. 2024. PMID: 38691822
Prevention and Management of Osteoradionecrosis in Patients With Head and Neck Cancer Treated With Radiation Therapy: ISOO-MASCC-ASCO Guideline.
Peterson DE, Koyfman SA, Yarom N, Lynggaard CD, Ismaila N, Forner LE, Fuller CD, Mowery YM, Murphy BA, Watson E, Yang DH, Alajbeg I, Bossi P, Fritz M, Futran ND, Gelblum DY, King E, Ruggiero S, Smith DK, Villa A, Wu JS, Saunders D. Peterson DE, et al. Among authors: watson e. J Clin Oncol. 2024 May 1:JCO2302750. doi: 10.1200/JCO.23.02750. Online ahead of print. J Clin Oncol. 2024. PMID: 38691821
1,419 results