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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1981 1
2001 1
2002 1
2008 2
2009 1
2016 3
2017 6
2018 4
2019 8
2020 6
2021 6
2022 3
2023 1
2024 1

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40 results

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Page 1
Improving access to exome sequencing in a medically underserved population through the Texome Project.
Vuocolo B, German RJ, Lalani SR, Murali CN, Bacino CA, Baskin S, Littlejohn R, Odom JD, McLean S, Schmid C, Nutter M, Stuebben M, Magness E, Juarez O, El Achi D, Mitchell B, Glinton KE, Robak L, Nagamani SCS, Saba L, Ritenour A, Zhang L, Streff H, Chan K, Kemere KJ, Carter K; Texome Project; Owen N, Vossaert L, Liu P, Bellen H, Wangler MF. Vuocolo B, et al. Among authors: robak l. Genet Med. 2024 Feb 29;26(6):101102. doi: 10.1016/j.gim.2024.101102. Online ahead of print. Genet Med. 2024. PMID: 38431799
Genetics and Pathogenesis of Parkinson's Syndrome.
Ye H, Robak LA, Yu M, Cykowski M, Shulman JM. Ye H, et al. Among authors: robak la. Annu Rev Pathol. 2023 Jan 24;18:95-121. doi: 10.1146/annurev-pathmechdis-031521-034145. Epub 2022 Sep 13. Annu Rev Pathol. 2023. PMID: 36100231 Free PMC article. Review.
ANKLE2-related microcephaly: A variable microcephaly syndrome resembling Zika infection.
Thomas AX, Link N, Robak LA, Demmler-Harrison G, Pao EC, Squire AE, Michels S, Cohen JS, Comi A, Prontera P, Verrotti di Pianella A, Di Cara G, Garavelli L, Caraffi SG, Fusco C, Zuntini R, Parks KC, Sherr EH, Hashem MO, Maddirevula S, Alkuraya FS, Contractar IAF, Neil JE, Walsh CA, Bellen HJ, Chao HT, Clark RD, Mirzaa GM. Thomas AX, et al. Among authors: robak la. Ann Clin Transl Neurol. 2022 Aug;9(8):1276-1288. doi: 10.1002/acn3.51629. Epub 2022 Jul 24. Ann Clin Transl Neurol. 2022. PMID: 35871307 Free PMC article.
Genome Sequencing in the Parkinson Disease Clinic.
Hill EJ, Robak LA, Al-Ouran R, Deger J, Fong JC, Vandeventer PJ, Schulman E, Rao S, Saade H, Savitt JM, von Coelln R, Desai N, Doddapaneni H, Salvi S, Dugan-Perez S, Muzny DM, McGuire AL, Liu Z, Gibbs RA, Shaw C, Jankovic J, Shulman LM, Shulman JM. Hill EJ, et al. Among authors: robak la. Neurol Genet. 2022 Jun 9;8(4):e200002. doi: 10.1212/NXG.0000000000200002. eCollection 2022 Aug. Neurol Genet. 2022. PMID: 35747619 Free PMC article.
Identification of sixteen novel candidate genes for late onset Parkinson's disease.
Gialluisi A, Reccia MG, Modugno N, Nutile T, Lombardi A, Di Giovannantonio LG, Pietracupa S, Ruggiero D, Scala S, Gambardella S; International Parkinson’s Disease Genomics Consortium (IPDGC); Iacoviello L, Gianfrancesco F, Acampora D, D'Esposito M, Simeone A, Ciullo M, Esposito T. Gialluisi A, et al. Mol Neurodegener. 2021 Jun 21;16(1):35. doi: 10.1186/s13024-021-00455-2. Mol Neurodegener. 2021. PMID: 34148545 Free PMC article.
A novel de novo intronic variant in ITPR1 causes Gillespie syndrome.
Keehan L, Jiang MM, Li X, Marom R, Dai H, Murdock D, Liu P, Hunter JV, Heaney JD, Robak L, Emrick L, Lotze T, Blieden LS; Undiagnosed Diseases Network; Lewis RA, Levin AV, Capasso J, Craigen WJ, Rosenfeld JA, Lee B, Burrage LC. Keehan L, et al. Among authors: robak l. Am J Med Genet A. 2021 Aug;185(8):2315-2324. doi: 10.1002/ajmg.a.62232. Epub 2021 May 5. Am J Med Genet A. 2021. PMID: 33949769 Free PMC article.
Investigation of Autosomal Genetic Sex Differences in Parkinson's Disease.
Blauwendraat C, Iwaki H, Makarious MB, Bandres-Ciga S, Leonard HL, Grenn FP, Lake J, Krohn L, Tan M, Kim JJ, Gibbs JR, Hernandez DG, Ruskey JA, Pihlstrøm L, Toft M, van Hilten JJ, Marinus J, Schulte C, Brockmann K, Sharma M, Siitonen A, Majamaa K, Eerola-Rautio J, Tienari PJ, Grosset DG, Lesage S, Corvol JC, Brice A, Wood N, Hardy J, Gan-Or Z, Heutink P, Gasser T, Morris HR, Noyce AJ, Nalls MA, Singleton AB; International Parkinson's Disease Genomics Consortium (IPDGC). Blauwendraat C, et al. Ann Neurol. 2021 Jul;90(1):35-42. doi: 10.1002/ana.26090. Epub 2021 May 24. Ann Neurol. 2021. PMID: 33901317 Free PMC article.
Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage.
Chen Z, Zhang D, Reynolds RH, Gustavsson EK, García-Ruiz S, D'Sa K, Fairbrother-Browne A, Vandrovcova J; International Parkinson’s Disease Genomics Consortium (IPDGC); Hardy J, Houlden H, Gagliano Taliun SA, Botía J, Ryten M. Chen Z, et al. Nat Commun. 2021 Apr 6;12(1):2076. doi: 10.1038/s41467-021-22262-5. Nat Commun. 2021. PMID: 33824317 Free PMC article.
Identification of Candidate Parkinson Disease Genes by Integrating Genome-Wide Association Study, Expression, and Epigenetic Data Sets.
Kia DA, Zhang D, Guelfi S, Manzoni C, Hubbard L, Reynolds RH, Botía J, Ryten M, Ferrari R, Lewis PA, Williams N, Trabzuni D, Hardy J, Wood NW; United Kingdom Brain Expression Consortium (UKBEC) and the International Parkinson’s Disease Genomics Consortium (IPDGC). Kia DA, et al. JAMA Neurol. 2021 Apr 1;78(4):464-472. doi: 10.1001/jamaneurol.2020.5257. JAMA Neurol. 2021. PMID: 33523105 Free PMC article.
40 results