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Optical Genome Mapping for the Molecular Diagnosis of Facioscapulohumeral Muscular Dystrophy: Advancement and Challenges.
Efthymiou S, Lemmers RJLF, Vishnu VY, Dominik N, Perrone B, Facchini S, Vegezzi E, Ravaglia S, Wilson L, van der Vliet PJ, Mishra R, Reyaz A, Ahmad T, Bhatia R, Polke JM, Srivastava MP, Cortese A, Houlden H, van der Maarel SM, Hanna MG, Bugiardini E. Efthymiou S, et al. Among authors: ahmad t. Biomolecules. 2023 Oct 24;13(11):1567. doi: 10.3390/biom13111567. Biomolecules. 2023. PMID: 38002249 Free PMC article.
The first genetically confirmed cohort of Facioscapulohumeral Muscular Dystrophy from Northern India.
Vishnu VY, Lemmers RJLF, Reyaz A, Mishra R, Ahmad T, van der Vliet PJ, Kretkiewicz MM, Macken WL, Efthymiou S, Dominik N, Morrow JM, Bhatia R, Wilson LA, Houlden H, Hanna MG, Bugiardini E, van der Maarel SM, Srivastava MVP. Vishnu VY, et al. Among authors: ahmad t. Eur J Hum Genet. 2024 Sep;32(9):1053-1064. doi: 10.1038/s41431-024-01577-z. Epub 2024 Apr 25. Eur J Hum Genet. 2024. PMID: 38664571 Free PMC article.
Ultrasensitive ctDNA detection for preoperative disease stratification in early-stage lung adenocarcinoma.
Black JRM, Bartha G, Abbott CW, Boyle SM, Karasaki T, Li B, Chen R, Harris J, Veeriah S, Colopi M, Bakir MA, Liu WK, Lyle J, Navarro FCP, Northcott J, Pyke RM, Hill MS, Thol K, Huebner A, Bailey C, Colliver EC, Martínez-Ruiz C, Grigoriadis K, Pawlik P, Moore DA, Marinelli D, Shutkever OG, Murphy C, Sivakumar M; TRACERx consortium; Shaw JA, Hackshaw A, McGranahan N, Jamal-Hanjani M, Frankell AM, Chen RO, Swanton C. Black JRM, et al. Nat Med. 2025 Jan 13. doi: 10.1038/s41591-024-03216-y. Online ahead of print. Nat Med. 2025. PMID: 39806071
Successful classification of clinical pediatric leukemia genetic subtypes via structural variant detection using HiFi long-read sequencing.
Lansdon LA, Yoo B, Keskus A, Pushel I, Bi C, Ahmad T, Bryant A, Walter A, Gibson M, Rindler M, Li W, Habeebu SM, Cooley LD, Herriges J, Repnikova E, Zhang L, August KJ, Flatt TG, Gamis AS, Guest EM, Hays JA, Hetherington M, Lewing K, Pastinen T, Kolmogorov M, Farooqi MS. Lansdon LA, et al. Among authors: ahmad t. medRxiv [Preprint]. 2024 Nov 5:2024.11.05.24316078. doi: 10.1101/2024.11.05.24316078. medRxiv. 2024. PMID: 39802758 Free PMC article. Preprint.
Prospective validation of ORACLE, a clonal expression biomarker associated with survival of patients with lung adenocarcinoma.
Biswas D, Liu YH, Herrero J, Wu Y, Moore DA, Karasaki T, Grigoriadis K, Lu WT, Veeriah S, Naceur-Lombardelli C, Magno N, Ward S, Frankell AM, Hill MS, Colliver E, de Carné Trécesson S, East P, Malhi A, Snell DM, O'Neill O, Leonce D, Mattsson J, Lindberg A, Micke P, Moldvay J, Megyesfalvi Z, Dome B, Fillinger J, Nicod J, Downward J, Szallasi Z; TRACERx Consortium; Hackshaw A, Jamal-Hanjani M, Kanu N, Birkbak NJ, Swanton C. Biswas D, et al. Nat Cancer. 2025 Jan 9. doi: 10.1038/s43018-024-00883-1. Online ahead of print. Nat Cancer. 2025. PMID: 39789179
1,773 results