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Page 1
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model.
Deng R, Medico-Salsench E, Nikoncuk A, Ramakrishnan R, Lanko K, Kühn NA, van der Linde HC, Lor-Zade S, Albuainain F, Shi Y, Yousefi S, Capo I, van den Herik EM, van Slegtenhorst M, van Minkelen R, Geeven G, Mulder MT, Ruijter GJG, Lütjohann D, Jacobs EH, Houlden H, Pagnamenta AT, Metcalfe K, Jackson A, Banka S, De Simone L, Schwaede A, Kuntz N, Palculict TB, Abbas S, Umair M, AlMuhaizea M, Colak D, AlQudairy H, Alsagob M, Pereira C, Trunzo R, Karageorgou V, Bertoli-Avella AM, Bauer P, Bouman A, Hoefsloot LH, van Ham TJ, Issa M, Zaki MS, Gleeson JG, Willemsen R, Kaya N, Arold ST, Maroofian R, Sanderson LE, Barakat TS. Deng R, et al. Among authors: metcalfe k. Acta Neuropathol. 2023 Aug;146(2):353-368. doi: 10.1007/s00401-023-02579-9. Epub 2023 Apr 29. Acta Neuropathol. 2023. PMID: 37119330 Free PMC article.
Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.
Tolonen JP, Parolin Schnekenberg R, McGowan S, Sims D, McEntagart M, Elmslie F, Shears D, Stewart H, Tofaris GK, Dabir T, Morrison PJ, Johnson D, Hadjivassiliou M, Ellard S, Shaw-Smith C, Znaczko A, Dixit A, Suri M, Sarkar A, Harrison RE, Jones G, Houlden H, Ceravolo G, Jarvis J, Williams J, Shanks ME, Clouston P, Rankin J, Blumkin L, Lerman-Sagie T, Ponger P, Raskin S, Granath K, Uusimaa J, Conti H, McCann E, Joss S, Blakes AJM, Metcalfe K, Kingston H, Bertoli M, Kneen R, Lynch SA, Martínez Albaladejo I, Moore AP, Jones WD; Genomics England Research Consortium; Becker EBE, Németh AH. Tolonen JP, et al. Among authors: metcalfe k. Mov Disord. 2024 Jan;39(1):141-151. doi: 10.1002/mds.29651. Epub 2023 Nov 14. Mov Disord. 2024. PMID: 37964426 Free PMC article.
DNA methylation analysis in patients with neurodevelopmental disorders improves variant interpretation and reveals complexity.
Trajkova S, Kerkhof J, Sebastiano MR, Pavinato L, Ferrero E, Giovenino C, Carli D, Di Gregorio E, Marinoni R, Mandrile G, Palermo F, Carestiato S, Cardaropoli S, Pullano V, Rinninella A, Giorgio E, Pippucci T, Dimartino P, Rzasa J, Rooney K, McConkey H, Petlichkovski A, Pasini B, Sukarova-Angelovska E, Campbell CM, Metcalfe K, Jenkinson S, Banka S, Mussa A, Ferrero GB, Sadikovic B, Brusco A. Trajkova S, et al. Among authors: metcalfe k. HGG Adv. 2024 May 14:100309. doi: 10.1016/j.xhgg.2024.100309. Online ahead of print. HGG Adv. 2024. PMID: 38751117 Free article.
The risk of skin cancer in women who carry BRCA1 or BRCA2 mutations.
Narod SA, Metcalfe K, Finch A, Chan AW, Armel SR, Aeilts A, Eisen A, Karlan B, Bordeleau L, Tung N, Foulkes WD, Neuhausen SL, Eng C, Olopade O, Zakalik D, Couch F, Cullinane C, Pal T, Sun P, Kotsopoulos J; Hereditary Breast Cancer Clinical Research Group. Narod SA, et al. Among authors: metcalfe k. Hered Cancer Clin Pract. 2024 May 13;22(1):7. doi: 10.1186/s13053-024-00277-5. Hered Cancer Clin Pract. 2024. PMID: 38741145 Free PMC article.
Correction: Cost Effectiveness of Endovascular Ultrasound Renal Denervation in Patients with Resistant Hypertension.
Taylor RS, Bentley A, Metcalfe K, Lobo MD, Kirtane AJ, Azizi M, Clark C, Murphy K, Boer JH, van Keep M, Ta AT, Barman NC, Schwab G, Akehurst R, Schmieder RE. Taylor RS, et al. Among authors: metcalfe k. Pharmacoecon Open. 2024 May 8. doi: 10.1007/s41669-024-00485-8. Online ahead of print. Pharmacoecon Open. 2024. PMID: 38717555 Free article. No abstract available.
Utility Analyses of AVITI Sequencing Chemistry.
Liu S, Obert C, Yu YP, Zhao J, Ren BG, Wiseman K, Krajacich BJ, Wang W, Metcalfe K, Smith M, Ben-Yehezkel T, Luo JH. Liu S, et al. Among authors: metcalfe k. bioRxiv [Preprint]. 2024 Apr 22:2024.04.18.590136. doi: 10.1101/2024.04.18.590136. bioRxiv. 2024. PMID: 38712138 Free PMC article. Preprint.
Bilateral Oophorectomy and All-Cause Mortality in Women With BRCA1 and BRCA2 Sequence Variations.
Kotsopoulos J, Gronwald J, Huzarski T, Møller P, Pal T, McCuaig JM, Singer CF, Karlan BY, Aeilts A, Eng C, Eisen A, Bordeleau L, Foulkes WD, Tung N, Couch FJ, Fruscio R, Neuhausen SL, Zakalik D, Cybulski C, Metcalfe K, Olopade OI, Sun P, Lubinski J, Narod SA; Hereditary Breast Cancer Clinical Study Group. Kotsopoulos J, et al. Among authors: metcalfe k. JAMA Oncol. 2024 Apr 1;10(4):484-492. doi: 10.1001/jamaoncol.2023.6937. JAMA Oncol. 2024. PMID: 38421677
MRI Surveillance and Breast Cancer Mortality in Women With BRCA1 and BRCA2 Sequence Variations.
Lubinski J, Kotsopoulos J, Moller P, Pal T, Eisen A, Peck L, Karlan BY, Aeilts A, Eng C, Bordeleau L, Foulkes WD, Tung N, Couch FJ, Fruscio R, Ramon Y Cajal T, Singer CF, Neuhausen SL, Zakalik D, Cybulski C, Gronwald J, Huzarski T, Stempa K, Dungan J, Cullinane C, Olopade OI, Metcalfe K, Sun P, Narod SA; Hereditary Breast Cancer Clinical Study Group. Lubinski J, et al. Among authors: metcalfe k. JAMA Oncol. 2024 Apr 1;10(4):493-499. doi: 10.1001/jamaoncol.2023.6944. JAMA Oncol. 2024. PMID: 38421676 Free PMC article.
337 results