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201 results

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Page 1
Primary cilia defects causing mitral valve prolapse.
Toomer KA, Yu M, Fulmer D, Guo L, Moore KS, Moore R, Drayton KD, Glover J, Peterson N, Ramos-Ortiz S, Drohan A, Catching BJ, Stairley R, Wessels A, Lipschutz JH, Delling FN, Jeunemaitre X, Dina C, Collins RL, Brand H, Talkowski ME, Del Monte F, Mukherjee R, Awgulewitsch A, Body S, Hardiman G, Hazard ES, da Silveira WA, Wang B, Leyne M, Durst R, Markwald RR, Le Scouarnec S, Hagege A, Le Tourneau T, Kohl P, Rog-Zielinska EA, Ellinor PT, Levine RA, Milan DJ, Schott JJ, Bouatia-Naji N, Slaugenhaupt SA, Norris RA. Toomer KA, et al. Among authors: talkowski me. Sci Transl Med. 2019 May 22;11(493):eaax0290. doi: 10.1126/scitranslmed.aax0290. Sci Transl Med. 2019. PMID: 31118289 Free PMC article.
Excitatory Dysfunction Drives Network and Calcium Handling Deficits in 16p11.2 Duplication Schizophrenia Induced Pluripotent Stem Cell-Derived Neurons.
Parnell E, Culotta L, Forrest MP, Jalloul HA, Eckman BL, Loizzo DD, Horan KKE, Dos Santos M, Piguel NH, Tai DJC, Zhang H, Gertler TS, Simkin D, Sanders AR, Talkowski ME, Gejman PV, Kiskinis E, Duan J, Penzes P. Parnell E, et al. Among authors: talkowski me. Biol Psychiatry. 2023 Jul 15;94(2):153-163. doi: 10.1016/j.biopsych.2022.11.005. Epub 2022 Nov 9. Biol Psychiatry. 2023. PMID: 36581494 Free PMC article.
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.
Loss of δ-catenin function in severe autism.
Turner TN, Sharma K, Oh EC, Liu YP, Collins RL, Sosa MX, Auer DR, Brand H, Sanders SJ, Moreno-De-Luca D, Pihur V, Plona T, Pike K, Soppet DR, Smith MW, Cheung SW, Martin CL, State MW, Talkowski ME, Cook E, Huganir R, Katsanis N, Chakravarti A. Turner TN, et al. Among authors: talkowski me. Nature. 2015 Apr 2;520(7545):51-6. doi: 10.1038/nature14186. Epub 2015 Mar 25. Nature. 2015. PMID: 25807484 Free PMC article.
Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
Brand H, Collins RL, Hanscom C, Rosenfeld JA, Pillalamarri V, Stone MR, Kelley F, Mason T, Margolin L, Eggert S, Mitchell E, Hodge JC, Gusella JF, Sanders SJ, Talkowski ME. Brand H, et al. Among authors: talkowski me. Am J Hum Genet. 2015 Jul 2;97(1):170-6. doi: 10.1016/j.ajhg.2015.05.012. Epub 2015 Jun 18. Am J Hum Genet. 2015. PMID: 26094575 Free PMC article.
Mutations in DCHS1 cause mitral valve prolapse.
Durst R, Sauls K, Peal DS, deVlaming A, Toomer K, Leyne M, Salani M, Talkowski ME, Brand H, Perrocheau M, Simpson C, Jett C, Stone MR, Charles F, Chiang C, Lynch SN, Bouatia-Naji N, Delling FN, Freed LA, Tribouilloy C, Le Tourneau T, LeMarec H, Fernandez-Friera L, Solis J, Trujillano D, Ossowski S, Estivill X, Dina C, Bruneval P, Chester A, Schott JJ, Irvine KD, Mao Y, Wessels A, Motiwala T, Puceat M, Tsukasaki Y, Menick DR, Kasiganesan H, Nie X, Broome AM, Williams K, Johnson A, Markwald RR, Jeunemaitre X, Hagege A, Levine RA, Milan DJ, Norris RA, Slaugenhaupt SA. Durst R, et al. Among authors: talkowski me. Nature. 2015 Sep 3;525(7567):109-13. doi: 10.1038/nature14670. Epub 2015 Aug 10. Nature. 2015. PMID: 26258302 Free PMC article.
201 results