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Genome-Wide Analysis of Structural Variants in Parkinson Disease.
Billingsley KJ, Ding J, Jerez PA, Illarionova A, Levine K, Grenn FP, Makarious MB, Moore A, Vitale D, Reed X, Hernandez D, Torkamani A, Ryten M, Hardy J; UK Brain Expression Consortium (UKBEC); 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, Gibbs JR, Singleton AB. Billingsley KJ, et al. Among authors: sedlazeck fj. Ann Neurol. 2023 May;93(5):1012-1022. doi: 10.1002/ana.26608. Epub 2023 Feb 3. Ann Neurol. 2023. PMID: 36695634 Free PMC article.
VariantSurvival: a tool to identify genotype-treatment response.
Krannich T, Sarrias MH, Ben Aribi H, Shokrof M, Iacoangeli A, Al-Chalabi A, Sedlazeck FJ, Busby B, Al Khleifat A. Krannich T, et al. Among authors: sedlazeck fj. Front Bioinform. 2023 Oct 11;3:1277923. doi: 10.3389/fbinf.2023.1277923. eCollection 2023. Front Bioinform. 2023. PMID: 37885757 Free PMC article.
Profiling complex repeat expansions in RFC1 in Parkinson's disease.
Alvarez Jerez P, Daida K, Miano-Burkhardt A, Iwaki H, Malik L, Cogan G, Makarious MB, Sullivan R, Vandrovcova J, Ding J, Gibbs JR, Markham A, Nalls MA, Kesharwani RK, Sedlazeck FJ, Casey B, Hardy J, Houlden H, Blauwendraat C, Singleton AB, Billingsley KJ. Alvarez Jerez P, et al. Among authors: sedlazeck fj. NPJ Parkinsons Dis. 2024 May 24;10(1):108. doi: 10.1038/s41531-024-00723-0. NPJ Parkinsons Dis. 2024. PMID: 38789445 Free PMC article.
Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions.
Bilgrav Saether K, Eisfeldt J, Bengtsson J, Lun MY, Grochowski CM, Mahmoud M, Chao HT, Rosenfeld JA, Liu P, Schuy J, Ameur A; Undiagnosed Diseases Network; Hwang JP, Sedlazeck FJ, Bi W, Marom R, Nordgren A, Carvalho CMB, Lindstrand A. Bilgrav Saether K, et al. Among authors: sedlazeck fj. medRxiv [Preprint]. 2024 Apr 24:2024.04.22.24305780. doi: 10.1101/2024.04.22.24305780. medRxiv. 2024. PMID: 38712270 Free PMC article. Preprint.
Analysis and benchmarking of small and large genomic variants across tandem repeats.
English AC, Dolzhenko E, Ziaei Jam H, McKenzie SK, Olson ND, De Coster W, Park J, Gu B, Wagner J, Eberle MA, Gymrek M, Chaisson MJP, Zook JM, Sedlazeck FJ. English AC, et al. Among authors: sedlazeck fj. Nat Biotechnol. 2024 Apr 26. doi: 10.1038/s41587-024-02225-z. Online ahead of print. Nat Biotechnol. 2024. PMID: 38671154
Closing the gap: Solving complex medically relevant genes at scale.
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 G, Henno G, Chinn IK, Eberle MA, Kingan S, Farinholt T, Carvalho CMB, Gibbs RA, Kronenberg Z, Muzny D, Sedlazeck FJ. Mahmoud M, et al. Among authors: sedlazeck fj. medRxiv [Preprint]. 2024 Mar 18:2024.03.14.24304179. doi: 10.1101/2024.03.14.24304179. medRxiv. 2024. PMID: 38562723 Free PMC article. Preprint.
137 results