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151 results

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Page 1
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: malik l. 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.
Profiling the NOTCH2NLC GGC Repeat Expansion in Parkinson's Disease in the European Population.
Billingsley KJ, Alvarez Jerez P, Grenn FP, Bandres-Ciga S, Malik L, Hernandez D, Torkamani A, Ryten M, Hardy J; United Kingdom Brain Expression Consortium (UKBEC); Scholz SW, Traynor BJ, Dalgard CL, Ehrlich DJ, Tanaka T, Ferrucci L, Beach TG, Serrano GE, Ding J, Gibbs JR, Blauwendraat C, Singleton AB. Billingsley KJ, et al. Among authors: malik l. Mov Disord. 2022 Oct;37(10):2161-2162. doi: 10.1002/mds.29155. Epub 2022 Jul 22. Mov Disord. 2022. PMID: 35866887 No abstract available.
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, Jerez PA, Malik L, Dewan R, Reed X, Genner RM, Daida K, Behera S, Shafin K, Pesout T, Prabakaran J, Carnevali P; North American Brain Expression Consortium (NABEC); 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: malik l. bioRxiv [Preprint]. 2023 Apr 5:2023.01.12.523790. doi: 10.1101/2023.01.12.523790. bioRxiv. 2023. Update in: Nat Methods. 2023 Oct;20(10):1483-1492. doi: 10.1038/s41592-023-01993-x PMID: 36711673 Free PMC article. Updated. Preprint.
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: malik l. 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.
Genome-wide Association Identifies Novel Etiological Insights Associated with Parkinson's Disease in African and African Admixed Populations.
Rizig M, Bandres-Ciga S, Makarious MB, Ojo O, Crea PW, Abiodun O, Levine KS, Abubakar S, Achoru C, Vitale D, Adeniji O, Agabi O, Koretsky MJ, Agulanna U, Hall DA, Akinyemi R, Xie T, Ali M, Shamim EA, Ani-Osheku I, Padmanaban M, Arigbodi O, Standaert DG, Bello A, Dean M, Erameh C, Elsayed I, Farombi T, Okunoye O, Fawale M, Billingsley KJ, Imarhiagbe F, Jerez PA, Iwuozo E, Baker B, Komolafe M, Malik L, Nwani P, Daida K, Nwazor E, Miano-Burkhardt A, Nyandaiti Y, Fang ZH, Obiabo Y, Kluss JH, Odeniyi O, Hernandez D, Odiase F, Tayebi N, Ojini F, Sidranksy E, Onwuegbuzie G, D'Souza AM, Osaigbovo G, Berhe B, Osemwegie N, Reed X, Oshinaike O, Leonard H, Otubogun F, Alvarado CX, Oyakhire S, Ozomma S, Samuel S, Taiwo F, Wahab K, Zubair Y, Iwaki H, Kim JJ, Morris HR, Hardy J, Nalls M, Heilbron K, Norcliffe-Kaufmann L; Disease Research Network, International Parkinson’s Disease Genomics Consortium - Africa (IPDGC Africa), Black and African American Connections to Parkinson’s Disease (BLAAC PD) Study Group, the 23andMe Research Team; Blauwendraat C, Houlden H, Singleton A, Okubadejo N. Rizig M, et al. Among authors: malik l. medRxiv [Preprint]. 2023 May 7:2023.05.05.23289529. doi: 10.1101/2023.05.05.23289529. medRxiv. 2023. Update in: Lancet Neurol. 2023 Nov;22(11):1015-1025. doi: 10.1016/S1474-4422(23)00283-1 PMID: 37398408 Free PMC article. Updated. Preprint.
Identification of genetic risk loci and causal insights associated with Parkinson's disease in African and African admixed populations: a genome-wide association study.
Rizig M, Bandres-Ciga S, Makarious MB, Ojo OO, Crea PW, Abiodun OV, Levine KS, Abubakar SA, Achoru CO, Vitale D, Adeniji OA, Agabi OP, Koretsky MJ, Agulanna U, Hall DA, Akinyemi RO, Xie T, Ali MW, Shamim EA, Ani-Osheku I, Padmanaban M, Arigbodi OM, Standaert DG, Bello AH, Dean MN, Erameh CO, Elsayed I, Farombi TH, Okunoye O, Fawale MB, Billingsley KJ, Imarhiagbe FA, Jerez PA, Iwuozo EU, Baker B, Komolafe MA, Malik L, Nwani PO, Daida K, Nwazor EO, Miano-Burkhardt A, Nyandaiti YW, Fang ZH, Obiabo YO, Kluss JH, Odeniyi OA, Hernandez DG, Odiase FE, Tayebi N, Ojini FI, Sidranksy E, Onwuegbuzie GA, D'Souza AM, Osaigbovo GO, Berhe B, Osemwegie N, Reed X, Oshinaike OO, Leonard HL, Otubogun FM, Alvarado CX, Oyakhire SI, Ozomma SI, Samuel SC, Taiwo FT, Wahab KW, Zubair YA, Iwaki H, Kim JJ, Morris HR, Hardy J, Nalls MA, Heilbron K, Norcliffe-Kaufmann L; Nigeria Parkinson Disease Research Network; International Parkinson's Disease Genomics Consortium Africa; Black and African American Connections to Parkinson's Disease Study Group; 23andMe Research Team; Blauwendraat C, Houlden H, Singleton A, Okubadejo NU; Global Parkinson's Genetics Program. Rizig M, et al. Among authors: malik l. Lancet Neurol. 2023 Nov;22(11):1015-1025. doi: 10.1016/S1474-4422(23)00283-1. Epub 2023 Aug 23. Lancet Neurol. 2023. PMID: 37633302 Free PMC article.
Insights into the Mechanisms and Structure of Breakage-Fusion-Bridge Cycles in Cervical Cancer using Long-Read Sequencing.
Rodriguez I, Rossi NM, Keskus A, Xie Y, Ahmad T, Bryant A, Lou H, Paredes JG, Milano R, Rao N, Tulsyan S, Boland JF, Luo W, Liu J, O'Hanlon T, Bess J, Mukhina V, Gaykalova D, Yuki Y, Malik L, Billingsley K, Blauwendraat C, Carrington M, Yeager M, Mirabello L, Kolmogorov M, Dean M. Rodriguez I, et al. Among authors: malik l. medRxiv [Preprint]. 2023 Aug 22:2023.08.21.23294276. doi: 10.1101/2023.08.21.23294276. medRxiv. 2023. Update in: Am J Hum Genet. 2024 Mar 7;111(3):544-561. doi: 10.1016/j.ajhg.2024.01.002 PMID: 37662332 Free PMC article. Updated. Preprint.
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: malik l. 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.
Long-read sequencing resolves a complex structural variant in PRKN Parkinson's disease.
Daida K, Funayama M, Billingsley KJ, Malik L, Miano-Burkhardt A, Leonard HL, Makarious MB, Iwaki H, Ding J, Gibbs JR, Ishiguro M, Yoshino H, Ogaki K, Oyama G, Nishioka K, Nonaka R, Akamatsu W, Blauwendraat C, Hattori N. Daida K, et al. Among authors: malik l. medRxiv [Preprint]. 2023 Aug 21:2023.08.14.23293948. doi: 10.1101/2023.08.14.23293948. medRxiv. 2023. Update in: Mov Disord. 2023 Dec;38(12):2249-2257. doi: 10.1002/mds.29610 PMID: 37790330 Free PMC article. Updated. Preprint.
Long-Read Sequencing Resolves a Complex Structural Variant in PRKN Parkinson's Disease.
Daida K, Funayama M, Billingsley KJ, Malik L, Miano-Burkhardt A, Leonard HL, Makarious MB, Iwaki H, Ding J, Gibbs JR, Ishiguro M, Yoshino H, Ogaki K, Oyama G, Nishioka K, Nonaka R, Akamatsu W, Blauwendraat C, Hattori N. Daida K, et al. Among authors: malik l. Mov Disord. 2023 Dec;38(12):2249-2257. doi: 10.1002/mds.29610. Epub 2023 Nov 5. Mov Disord. 2023. PMID: 37926948 Free PMC article.
151 results