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Page 1
Association study of 21 circadian genes with bipolar I disorder, schizoaffective disorder, and schizophrenia.
Mansour HA, Talkowski ME, Wood J, Chowdari KV, McClain L, Prasad K, Montrose D, Fagiolini A, Friedman ES, Allen MH, Bowden CL, Calabrese J, El-Mallakh RS, Escamilla M, Faraone SV, Fossey MD, Gyulai L, Loftis JM, Hauser P, Ketter TA, Marangell LB, Miklowitz DJ, Nierenberg AA, Patel J, Sachs GS, Sklar P, Smoller JW, Laird N, Keshavan M, Thase ME, Axelson D, Birmaher B, Lewis D, Monk T, Frank E, Kupfer DJ, Devlin B, Nimgaonkar VL. Mansour HA, et al. Among authors: talkowski me. Bipolar Disord. 2009 Nov;11(7):701-10. doi: 10.1111/j.1399-5618.2009.00756.x. Bipolar Disord. 2009. PMID: 19839995 Free PMC article.
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: talkowski me. 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.
Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
GATK-gCNV enables the discovery of rare copy number variants from exome sequencing data.
Babadi M, Fu JM, Lee SK, Smirnov AN, Gauthier LD, Walker M, Benjamin DI, Zhao X, Karczewski KJ, Wong I, Collins RL, Sanchis-Juan A, Brand H, Banks E, Talkowski ME. Babadi M, et al. Among authors: talkowski me. Nat Genet. 2023 Sep;55(9):1589-1597. doi: 10.1038/s41588-023-01449-0. Epub 2023 Aug 21. Nat Genet. 2023. PMID: 37604963 Free PMC article.
High-Resolution and Noninvasive Fetal Exome Screening.
Brand H, Whelan CW, Duyzend M, Lemanski J, Salani M, Hao SP, Wong I, Valkanas E, Cusick C, Genetti C, Dobson L, Studwell C, Gianforcaro K, Wilkins-Haug L, Guseh S, Currall B, Gray K, Talkowski ME. Brand H, et al. Among authors: talkowski me. N Engl J Med. 2023 Nov 23;389(21):2014-2016. doi: 10.1056/NEJMc2216144. N Engl J Med. 2023. PMID: 37991862 Free PMC article. No abstract available.
CHD8 suppression impacts on histone H3 lysine 36 trimethylation and alters RNA alternative splicing.
Kerschbamer E, Arnoldi M, Tripathi T, Pellegrini M, Maturi S, Erdin S, Salviato E, Di Leva F, Sebestyén E, Dassi E, Zarantonello G, Benelli M, Campos E, Basson MA, Gusella JF, Gustincich S, Piazza S, Demichelis F, Talkowski ME, Ferrari F, Biagioli M. Kerschbamer E, et al. Among authors: talkowski me. Nucleic Acids Res. 2022 Dec 9;50(22):12809-12828. doi: 10.1093/nar/gkac1134. Nucleic Acids Res. 2022. PMID: 36537238 Free PMC article.
Exome Sequencing and the Identification of New Genes and Shared Mechanisms in Polymicrogyria.
Akula SK, Chen AY, Neil JE, Shao DD, Mo A, Hylton NK, DiTroia S, Ganesh VS, Smith RS, O'Kane K, Yeh RC, Marciano JH, Kirkham S, Kenny CJ, Song JHT, Al Saffar M, Millan F, Harris DJ, Murphy AV, Klemp KC, Braddock SR, Brand H, Wong I, Talkowski ME, O'Donnell-Luria A, Lai A, Hill RS, Mochida GH, Doan RN, Barkovich AJ, Yang E, Amrom D, Andermann E, Poduri A, Walsh CA; Polymicrogyria Genetics Research Network. Akula SK, et al. Among authors: talkowski me. JAMA Neurol. 2023 Sep 1;80(9):980-988. doi: 10.1001/jamaneurol.2023.2363. JAMA Neurol. 2023. PMID: 37486637 Free PMC article.
CNV-ClinViewer: enhancing the clinical interpretation of large copy-number variants online.
Macnee M, Pérez-Palma E, Brünger T, Klöckner C, Platzer K, Stefanski A, Montanucci L, Bayat A, Radtke M, Collins RL, Talkowski M, Blankenberg D, Møller RS, Lemke JR, Nothnagel M, May P, Lal D. Macnee M, et al. Bioinformatics. 2023 May 4;39(5):btad290. doi: 10.1093/bioinformatics/btad290. Bioinformatics. 2023. PMID: 37104749 Free PMC article.
Phenotype and genetic analysis of data collected within the first year of NeuroDev.
Kipkemoi P, Kim HA, Christ B, O'Heir E, Allen J, Austin-Tse C, Baxter S, Brand H, Bryant S, Buser N, de Menil V, Eastman E, Murugasen S, Galvin A, Kombe M, Ngombo A, Mkubwa B, Mwangi P, Kipkoech C, Lovgren A, MacArthur DG, Melly B, Mwangasha K, Martin A, Nkambule LL, Sanchis-Juan A, Singer-Berk M, Talkowski ME, VanNoy G, van der Merwe C; NeuroDev Project; Newton C, O'Donnell-Luria A, Abubakar A, Donald KA, Robinson EB. Kipkemoi P, et al. Among authors: talkowski me. Neuron. 2023 Sep 20;111(18):2800-2810.e5. doi: 10.1016/j.neuron.2023.06.010. Epub 2023 Jul 17. Neuron. 2023. PMID: 37463579 Free article.
185 results