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Page 1
Variants in the Kallikrein Gene Family and Hypermobile Ehlers-Danlos Syndrome.
Gensemer C, Beck T, Guo L, Petrucci T, Morningstar J, Kornblau I, Byerly K, Biggs R, Weintraub A, Moore K, Koren N, Daylor V, Hastings C, Oberlies E, Zientara ER, Devey E, Dooley S, Stayer K, Fenner R, Singleton K, Luzbetak S, Bear D, Byrd R, Weninger J, Bistran E, Beeson G, Kerns J, Griggs M, Griggs C, Osterhaus M, Fleck E, Schnaudigel J, Butler S, Severance S, Kendall W, Delaney JR, Judge DP, Chen P, Yao H, Guz J, Awgulewitsch A, Kautz SA, Mukherjee R, Price R, Henderson F Sr, Shapiro S, Francomano CA, Kovacic JC, Lavallee M, Patel S, Berrandou TE, Slaugenhaupt SA, Milan D, Kontorovich AR, Bouatia-Naji N, Norris RA. Gensemer C, et al. Among authors: slaugenhaupt sa. Res Sq [Preprint]. 2024 Jun 10:rs.3.rs-4547888. doi: 10.21203/rs.3.rs-4547888/v1. Res Sq. 2024. PMID: 38947032 Free PMC article. Preprint.
Isolated prolapse of the posterior mitral valve leaflet: phenotypic refinement, heritability and genetic etiology.
Rimbert A, Duval D, Trujillano D, Kyndt F, Jobbe-Duval A, Lindenbaum P, Tucker N, Lecointe S, Labbé P, Toquet C, Karakachoff M, Roussel JC, Baufreton C, Bruneval P, Cueff C, Donal E, Redon R, Olaso R, Boland A, Deleuze JF; FranceGenRef Consortium; Estivill X, Slaugenhaupt S, Markwald RR, Norris RA, Verhoye JP, Probst V, Hagège A, Levine R, Jeunemaitre X, Marec HL, Capoulade R, Bouatia-Naji N, Dina C, Milan D, Ossowski S, Schott JJ, Mérot J, Scouarnec SL, Tourneau TL. Rimbert A, et al. medRxiv [Preprint]. 2024 Oct 17:2024.10.16.24315096. doi: 10.1101/2024.10.16.24315096. medRxiv. 2024. PMID: 39484266 Free PMC article. Preprint.
Development of an oral treatment that rescues gait ataxia and retinal degeneration in a phenotypic mouse model of familial dysautonomia.
Morini E, Chekuri A, Logan EM, Bolduc JM, Kirchner EG, Salani M, Krauson AJ, Narasimhan J, Gabbeta V, Grover S, Dakka A, Mollin A, Jung SP, Zhao X, Zhang N, Zhang S, Arnold M, Woll MG, Naryshkin NA, Weetall M, Slaugenhaupt SA. Morini E, et al. Among authors: slaugenhaupt sa. Am J Hum Genet. 2023 Mar 2;110(3):531-547. doi: 10.1016/j.ajhg.2023.01.019. Epub 2023 Feb 20. Am J Hum Genet. 2023. PMID: 36809767 Free PMC article.
Rescue of a familial dysautonomia mouse model by AAV9-Exon-specific U1 snRNA.
Romano G, Riccardi F, Bussani E, Vodret S, Licastro D, Ragone I, Ronzitti G, Morini E, Slaugenhaupt SA, Pagani F. Romano G, et al. Among authors: slaugenhaupt sa. Am J Hum Genet. 2022 Aug 4;109(8):1534-1548. doi: 10.1016/j.ajhg.2022.07.004. Epub 2022 Jul 28. Am J Hum Genet. 2022. PMID: 35905737 Free PMC article.
Genome-wide association study reveals novel genetic loci: a new polygenic risk score for mitral valve prolapse.
Roselli C, Yu M, Nauffal V, Georges A, Yang Q, Love K, Weng LC, Delling FN, Maurya SR, Schrölkamp M, Tfelt-Hansen J, Hagège A, Jeunemaitre X, Debette S, Amouyel P, Guan W, Muehlschlegel JD, Body SC, Shah S, Samad Z, Kyryachenko S, Haynes C, Rienstra M, Le Tourneau T, Probst V, Roussel R, Wijdh-Den Hamer IJ, Siland JE, Knowlton KU, Jacques Schott J, Levine RA, Benjamin EJ, Vasan RS, Horne BD, Muhlestein JB, Benfari G, Enriquez-Sarano M, Natale A, Mohanty S, Trivedi C, Shoemaker MB, Yoneda ZT, Wells QS, Baker MT, Farber-Eger E, Michelena HI, Lundby A, Norris RA, Slaugenhaupt SA, Dina C, Lubitz SA, Bouatia-Naji N, Ellinor PT, Milan DJ. Roselli C, et al. Among authors: slaugenhaupt sa. Eur Heart J. 2022 May 1;43(17):1668-1680. doi: 10.1093/eurheartj/ehac049. Eur Heart J. 2022. PMID: 35245370 Free PMC article.
Developmental regulation of neuronal gene expression by Elongator complex protein 1 dosage.
Morini E, Gao D, Logan EM, Salani M, Krauson AJ, Chekuri A, Chen YT, Ragavendran A, Chakravarty P, Erdin S, Stortchevoi A, Svejstrup JQ, Talkowski ME, Slaugenhaupt SA. Morini E, et al. Among authors: slaugenhaupt sa. J Genet Genomics. 2022 Jul;49(7):654-665. doi: 10.1016/j.jgg.2021.11.011. Epub 2021 Dec 9. J Genet Genomics. 2022. PMID: 34896608 Free PMC article.
A deep learning approach to identify gene targets of a therapeutic for human splicing disorders.
Gao D, Morini E, Salani M, Krauson AJ, Chekuri A, Sharma N, Ragavendran A, Erdin S, Logan EM, Li W, Dakka A, Narasimhan J, Zhao X, Naryshkin N, Trotta CR, Effenberger KA, Woll MG, Gabbeta V, Karp G, Yu Y, Johnson G, Paquette WD, Cutting GR, Talkowski ME, Slaugenhaupt SA. Gao D, et al. Among authors: slaugenhaupt sa. Nat Commun. 2021 Jun 7;12(1):3332. doi: 10.1038/s41467-021-23663-2. Nat Commun. 2021. PMID: 34099697 Free PMC article.
114 results