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Page 1
Long-read sequencing of hundreds of diverse brains provides insight into the impact of structural variation on gene expression and DNA methylation.
Billingsley KJ, Meredith M, Daida K, Alvarez Jerez P, Negi S, Malik L, Genner RM, Moller A, Zheng X, Gibson SB, Mastoras M, Baker B, Kouam C, Paquette K, Jarreau P, Makarious MB, Moore A, Hong S, Vitale D, Shah S, Monlong J, Pantazis CB, Asri M, Shafin K, Carnevali P, Marenco S, Auluck P, Mandal A, Miga KH, Rhie A, Reed X, Ding J, Cookson MR, Nalls M, Singleton A, Miller DE, Chaisson M, Timp W, Gibbs JR, Phillippy AM, Kolmogorov M, Jain M, Sedlazeck FJ, Paten B, Blauwendraat C. Billingsley KJ, et al. Among authors: alvarez jerez p. bioRxiv [Preprint]. 2024 Dec 17:2024.12.16.628723. doi: 10.1101/2024.12.16.628723. bioRxiv. 2024. PMID: 39764002 Free PMC article. Preprint.
African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.
Álvarez Jerez P, Wild Crea P, Ramos DM, Gustavsson EK, Radefeldt M, Damianov A, Makarious MB, Ojo OO, Billingsley KJ, Malik L, Daida K, Bromberek S, Hu F, Schneider Z, Surapaneni AL, Stadler J, Rizig M, Morris HR, Pantazis CB, Leonard HL, Screven L, Qi YA, Nalls MA, Bandres-Ciga S, Hardy J, Houlden H, Eng C, Burchard EG, Kachuri L, Lin CH, Black DL; Global Parkinson’s Genetics Program (GP2); Singleton AB, Fischer S, Bauer P, Reed X, Ryten M, Beetz C, Ward M, Okubadejo NU, Blauwendraat C. Álvarez Jerez P, et al. Nat Struct Mol Biol. 2024 Dec;31(12):1955-1963. doi: 10.1038/s41594-024-01423-2. Epub 2024 Dec 12. Nat Struct Mol Biol. 2024. PMID: 39668204 Free PMC article.
The ZFHX3 GGC Repeat Expansion Underlying Spinocerebellar Ataxia Type 4 has a Common Ancestral Founder.
Chen Z, Alvarez Jerez P, Anderson C, Paucar M, Lee J, Nilsson D, Macpherson H, Scardamaglia A, Montgomery K, Hardy J, Singleton AB, Tucci A, Mathews KD, Fu YH, Engvall M, Laffita-Mesa J, Nennesmo I, Wedell A, Ptáček LJ, Blauwendraat C, Gustavsson EK, Svenningsson P, Ryten M, Houlden H. Chen Z, et al. Among authors: alvarez jerez p. Mov Disord. 2024 Dec 5. doi: 10.1002/mds.30077. Online ahead of print. Mov Disord. 2024. PMID: 39635987
The GIAB genomic stratifications resource for human reference genomes.
Dwarshuis N, Kalra D, McDaniel J, Sanio P, Alvarez Jerez P, Jadhav B, Huang WE, Mondal R, Busby B, Olson ND, Sedlazeck FJ, Wagner J, Majidian S, Zook JM. Dwarshuis N, et al. Among authors: alvarez jerez p. Nat Commun. 2024 Oct 19;15(1):9029. doi: 10.1038/s41467-024-53260-y. Nat Commun. 2024. PMID: 39424793 Free PMC article.
Characterizing a complex CT-rich haplotype in intron 4 of SNCA using large-scale targeted amplicon long-read sequencing.
Alvarez Jerez P, Daida K, Grenn FP, Malik L, Miano-Burkhardt A, Makarious MB, Ding J, Gibbs JR, Moore A, Reed X, Nalls MA, Shah S, Mahmoud M, Sedlazeck FJ, Dolzhenko E, Park M, Iwaki H, Casey B, Ryten M, Blauwendraat C, Singleton AB, Billingsley KJ. Alvarez Jerez P, et al. NPJ Parkinsons Dis. 2024 Jul 26;10(1):136. doi: 10.1038/s41531-024-00749-4. NPJ Parkinsons Dis. 2024. PMID: 39060285 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. 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.
Adaptive Long-Read Sequencing Reveals GGC Repeat Expansion in ZFHX3 Associated with Spinocerebellar Ataxia Type 4.
Chen Z, Gustavsson EK, Macpherson H, Anderson C, Clarkson C, Rocca C, Self E, Alvarez Jerez P, Scardamaglia A, Pellerin D, Montgomery K, Lee J, Gagliardi D, Luo H; Genomics England Research Consortium; Hardy J, Polke J, Singleton AB, Blauwendraat C, Mathews KD, Tucci A, Fu YH, Houlden H, Ryten M, Ptáček LJ. Chen Z, et al. Among authors: alvarez jerez p. Mov Disord. 2024 Mar;39(3):486-497. doi: 10.1002/mds.29704. Epub 2024 Jan 10. Mov Disord. 2024. PMID: 38197134
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation.
Kolmogorov M, Billingsley KJ, Mastoras M, Meredith M, Monlong J, Lorig-Roach R, Asri M, Alvarez Jerez P, Malik L, Dewan R, Reed X, Genner RM, Daida K, Behera S, Shafin K, Pesout T, Prabakaran J, Carnevali P, Yang J, Rhie A, Scholz SW, Traynor BJ, Miga KH, Jain M, Timp W, Phillippy AM, Chaisson M, Sedlazeck FJ, Blauwendraat C, Paten B. Kolmogorov M, et al. Among authors: alvarez jerez p. Nat Methods. 2023 Oct;20(10):1483-1492. doi: 10.1038/s41592-023-01993-x. Epub 2023 Sep 14. Nat Methods. 2023. PMID: 37710018 Free PMC article.
Genome-wide structural variant analysis identifies risk loci for non-Alzheimer's dementias.
Kaivola K, Chia R, Ding J, Rasheed M, Fujita M, Menon V, Walton RL, Collins RL, Billingsley K, Brand H, Talkowski M, Zhao X, Dewan R, Stark A, Ray A, Solaiman S, Alvarez Jerez P, Malik L, Dawson TM, Rosenthal LS, Albert MS, Pletnikova O, Troncoso JC, Masellis M, Keith J, Black SE, Ferrucci L, Resnick SM, Tanaka T; American Genome Center; International LBD Genomics Consortium; International ALS/FTD Consortium; PROSPECT Consortium; Topol E, Torkamani A, Tienari P, Foroud TM, Ghetti B, Landers JE, Ryten M, Morris HR, Hardy JA, Mazzini L, D'Alfonso S, Moglia C, Calvo A, Serrano GE, Beach TG, Ferman T, Graff-Radford NR, Boeve BF, Wszolek ZK, Dickson DW, Chiò A, Bennett DA, De Jager PL, Ross OA, Dalgard CL, Gibbs JR, Traynor BJ, Scholz SW. Kaivola K, et al. Among authors: alvarez jerez p. Cell Genom. 2023 May 4;3(6):100316. doi: 10.1016/j.xgen.2023.100316. eCollection 2023 Jun 14. Cell Genom. 2023. PMID: 37388914 Free PMC article.
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