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Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
Hany U, Watson CM, Liu L, Smith CEL, Harfoush A, Poulter JA, Nikolopoulos G, Balmer R, Brown CJ, Patel A, Simmonds J, Charlton R, Acosta de Camargo MG, Rodd HD, Jafri H, Antanaviciute A, Moffat M, Al-Jawad M, Inglehearn CF, Mighell AJ. Hany U, et al. Among authors: patel a. J Med Genet. 2024 Mar 21;61(4):347-355. doi: 10.1136/jmg-2023-109510. J Med Genet. 2024. PMID: 37979963 Free PMC article.
New missense variants in RELT causing hypomineralised amelogenesis imperfecta.
Nikolopoulos G, Smith CEL, Brookes SJ, El-Asrag ME, Brown CJ, Patel A, Murillo G, O'Connell MJ, Inglehearn CF, Mighell AJ. Nikolopoulos G, et al. Among authors: patel a. Clin Genet. 2020 May;97(5):688-695. doi: 10.1111/cge.13721. Epub 2020 Feb 21. Clin Genet. 2020. PMID: 32052416 Free PMC article.
Cell type transcriptional identities are maintained in cultured ex vivo human brain tissue.
McGinnis JP, Ortiz-Guzman J, Mallannagari S, Guevara MC, Belfort BDW, Bao S, Srivastava S, Morkas M, Ji E, Katlowitz KA, Addison A, Tantry EK, Blessing MM, Mohila CA, Gadgil N, McClugage SG, Bauer DF, Whitehead WE, Aldave G, Tanweer O, Jaleel N, Jalali A, Patel AJ, Sheth SA, Weiner HL, Gopinath S, Rao G, Harmanci AS, Curry D, Arenkiel BR. McGinnis JP, et al. Among authors: patel aj. bioRxiv [Preprint]. 2024 Dec 20:2024.12.19.629223. doi: 10.1101/2024.12.19.629223. bioRxiv. 2024. PMID: 39763930 Free PMC article. Preprint.
FAecal micRobiota transplantation in primary sclerosinG chOlangitis (FARGO): study protocol for a randomised, multicentre, phase IIa, placebo-controlled trial.
Al-Shakhshir S, Quraishi MN, Mullish B, Patel A, Vince A, Rowe A, Homer V, Jackson N, Gyimah D, Shabir S, Manzoor S, Cooney R, Alrubaiy L, Quince C, van Schaik W, Hares M, Beggs AD, Efstathiou E, Rimmer P, Weston C, Iqbal T, Trivedi PJ. Al-Shakhshir S, et al. Among authors: patel a. BMJ Open. 2025 Jan 6;15(1):e095392. doi: 10.1136/bmjopen-2024-095392. BMJ Open. 2025. PMID: 39762111 Free article. Clinical Trial.
Glucarpidase for Treatment of High-Dose Methotrexate Toxicity.
Gupta S, Kaunfer SA, Chen KL, Dias JA, Vijayan A, Rajasekaran A, Prosek J, Truong HL, Wood A, Bassil C, Renaghan AD, Shah CV, Zhang J, Glezerman I, Carlos C, Kelly K, Passero CJ, Drappatz J, Abudayyeh A, Shin D, Sperati CJ, Yelvington BJ, Kanduri SR, Neyra JA, Edmonston D, Shirali AC, Bansal A, Geara A, Mithani Z, Ziolkowski SL, Rashidi A, Jakubowski J, Pujari A, Bond DA, Dotson EK, Wall SA, Patton JT, Barreto JN, Hermann SM, Sheikh MS, Baz RC, Lee JH, Lucchesi N, Kolman M, Rasheed MA, Afzal A, Kang D, Mahesh A, Hsu R, Nicolaysen A, Tefera K, Schretlen C, Miller RM, Velez JCQ, Flannery AH, Aklilu AM, Anand S, Chandrasekhara S, Donley V, Patel A, Ni J, Krishnamurthy S, Ali R, Yilmam OA, Wells SL, Ortega JL, Green-Lingren OL, Leaf RK, Sise ME, Nayak L, LaCasce AS, Leung N, Leaf DE. Gupta S, et al. Among authors: patel a. Blood. 2025 Jan 6:blood.2024026211. doi: 10.1182/blood.2024026211. Online ahead of print. Blood. 2025. PMID: 39760780
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