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Page 1
Bi-allelic variants in BRF2 are associated with perinatal death and craniofacial anomalies.
Mattioli F, Friðriksdóttir R, Hebert A, Bassani S, Ibrahim N, Naz S, Chrast J, Pailler-Pradeau C, Oddsson Á, Sulem P, Halldorsson GH, Melsted P, Guðbjartsson DF, Palombo F, Pippucci T, Nouri N, Seri M, Farrow EG, Saunders CJ, Guex N, Ansar M, Stefansson K, Reymond A. Mattioli F, et al. Among authors: ansar m. Genome Med. 2025 Apr 14;17(1):38. doi: 10.1186/s13073-025-01463-3. Genome Med. 2025. PMID: 40229899 Free PMC article.
A comprehensive genetic landscape of inherited retinal diseases in a large Pakistani cohort.
Ullah M, Rehman AU, Quinodoz M, Rashid A, Cancellieri F, Munir A, Kaminska K, Iqbal A, Javed S, Dawood M, Baig HMA, Saleha S, Naz S, Kausar H, Waryah AM, Superti-Furga A, Ansar M, Rivolta C. Ullah M, et al. Among authors: ansar m. NPJ Genom Med. 2025 Apr 4;10(1):31. doi: 10.1038/s41525-025-00488-2. NPJ Genom Med. 2025. PMID: 40180963 Free PMC article.
Construction of 2D/2D α-Fe2O3/g-C3N4 Z-scheme photocatalysts with SnO2 as an energy platform for directed charge transfer in cascade heterojunction: Photocatalytic CO2 reduction and pollutant degradation.
Muhammad W, Faqir N, Khan MA, Khan ZU, Ahmad B, Ahmad MJ, Zada A, Ali F, Nadeem S, Ansar MZ, Ali W. Muhammad W, et al. Among authors: ansar mz. J Colloid Interface Sci. 2025 Aug;691:137459. doi: 10.1016/j.jcis.2025.137459. Epub 2025 Mar 27. J Colloid Interface Sci. 2025. PMID: 40179550
Bi-allelic variants in MRPL49 cause variable clinical presentations, including sensorineural hearing loss, leukodystrophy, and ovarian insufficiency.
Thomas HB, Demain LAM, Cabrera-Orefice A, Schrauwen I, Shamseldin HE, Rea A, Bharadwaj T, Smith TB, Oláhová M, Thompson K, He L, Kaur N, Shukla A, Abukhalid M, Ansar M, Rehman S, Riazuddin S, Abdulwahab F, Smith JM, Stark Z, Mancilar H, Tumer S, Esen FN, Uctepe E, Topcu V, Yesilyurt A, Afzal E, Salari M, Carroll C, Zifarelli G, Bauer P, Kor D, Bulut FD, Houlden H, Maroofian R, Carrera S, Yue WW, Munro KJ, Alkuraya FS, Jamieson P, Ahmed ZM, Leal SM, Taylor RW, Wittig I, O'Keefe RT, Newman WG. Thomas HB, et al. Among authors: ansar m. Am J Hum Genet. 2025 Apr 3;112(4):952-962. doi: 10.1016/j.ajhg.2025.02.005. Epub 2025 Mar 4. Am J Hum Genet. 2025. PMID: 40043708 Free article.
280 results