Publications

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2023
Billingsley KJ, Ding J, Jerez PAlvarez, Illarionova A, Levine K, Grenn FP, Makarious MB, Moore A, Vitale D, Reed X, Hernandez D, Torkamani A, Ryten M, Hardy J, Chia R, Scholz SW, Traynor BJ, Dalgard CL, Ehrlich DJ, Tanaka T, Ferrucci L, Beach TG, Serrano GE, Quinn JP, Bubb VJ, Collins RL, Zhao X, Walker M, Pierce-Hoffman E, Brand H, Talkowski ME, Casey B, Cookson MR, Markham A, Nalls MA, Mahmoud M, Sedlazeck FJ, Blauwendraat C, J Gibbs R, Singleton AB. Genome-Wide Analysis of Structural Variants in Parkinson Disease. Ann Neurol. 2023 ;93(5):1012-1022.
Majidian S, Agustinho DPaiva, Chin C-S, Sedlazeck FJ, Mahmoud M. Genomic variant benchmark: if you cannot measure it, you cannot improve it. Genome Biol. 2023 ;24(1):221.
Akagi K, Symer DE, Mahmoud M, Jiang B, Goodwin S, Wangsa D, Li Z, Xiao W, Dunn JDan, Ried T, Coombes KR, Sedlazeck FJ, Gillison ML. Intratumoral Heterogeneity and Clonal Evolution Induced by HPV Integration. Cancer Discov. 2023 ;13(4):910-927.
2024
Mahmoud M, Harting J, Corbitt H, Chen X, Jhangiani SN, Doddapaneni H, Meng Q, Han T, Lambert C, Zhang S, Baybayan P, Henno G, Shen H, Hu J, Han Y, Riegler C, Metcalf GA, Henno G, Chinn IK, Eberle MA, Kingan S, Farinholt T, Carvalho CMB, Gibbs RA, Kronenberg Z, Muzny DM, Sedlazeck FJ. Closing the gap: Solving complex medically relevant genes at scale. medRxiv. 2024 ;.
Smolka M, Paulin LF, Grochowski CM, Horner DW, Mahmoud M, Behera S, Kalef-Ezra E, Gandhi M, Hong K, Pehlivan D, Scholz SW, Carvalho CMB, Proukakis C, Sedlazeck FJ. Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 ;.
Smolka M, Paulin LF, Grochowski CM, Horner DW, Mahmoud M, Behera S, Kalef-Ezra E, Gandhi M, Hong K, Pehlivan D, Scholz SW, Carvalho CMB, Proukakis C, Sedlazeck FJ. Publisher Correction: Detection of mosaic and population-level structural variants with Sniffles2. Nat Biotechnol. 2024 ;.