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15 results

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Page 1
De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
Sanders SJ, Murtha MT, Gupta AR, Murdoch JD, Raubeson MJ, Willsey AJ, Ercan-Sencicek AG, DiLullo NM, Parikshak NN, Stein JL, Walker MF, Ober GT, Teran NA, Song Y, El-Fishawy P, Murtha RC, Choi M, Overton JD, Bjornson RD, Carriero NJ, Meyer KA, Bilguvar K, Mane SM, Sestan N, Lifton RP, Günel M, Roeder K, Geschwind DH, Devlin B, State MW. Sanders SJ, et al. Among authors: murtha rc. Nature. 2012 Apr 4;485(7397):237-41. doi: 10.1038/nature10945. Nature. 2012. PMID: 22495306 Free PMC article.
In vivo CRISPR-Cas9 genome editing in mice identifies genetic modifiers of somatic CAG repeat instability in Huntington's disease.
Mouro Pinto R, Murtha R, Azevedo A, Douglas C, Kovalenko M, Ulloa J, Crescenti S, Burch Z, Oliver E, Kesavan M, Shibata S, Vitalo A, Mota-Silva E, Riggs MJ, Correia K, Elezi E, Demelo B, Carroll JB, Gillis T, Gusella JF, MacDonald ME, Wheeler VC. Mouro Pinto R, et al. Among authors: murtha r. Nat Genet. 2025 Feb;57(2):314-322. doi: 10.1038/s41588-024-02054-5. Epub 2025 Jan 22. Nat Genet. 2025. PMID: 39843658 Free PMC article.
Dissecting the Genomics of Spontaneous Coronary Artery Dissection.
Weldy CS, Murtha R, Kim JB. Weldy CS, et al. Among authors: murtha r. Circ Genom Precis Med. 2022 Oct;15(5):e003867. doi: 10.1161/CIRCGEN.122.003867. Epub 2022 Aug 18. Circ Genom Precis Med. 2022. PMID: 35980654 Free PMC article. No abstract available.
One-year real-world experience with mavacamten and its physiologic effects on obstructive hypertrophic cardiomyopathy.
Kim DS, Chu EL, Keamy-Minor EE, Paranjpe ID, Tang WL, O'Sullivan JW, Desai YB, Liu MB, Munsey E, Hecker K, Cuenco I, Kao B, Bacolor E, Bonnett C, Linder A, Lacar K, Robles N, Lamendola C, Smith A, Knowles JW, Perez MV, Kawana M, Sallam KI, Weldy CS, Wheeler MT, Parikh VN, Salisbury H, Ashley EA; Stanford Center for Inherited Cardiovascular Disease. Kim DS, et al. Front Cardiovasc Med. 2024 Aug 30;11:1429230. doi: 10.3389/fcvm.2024.1429230. eCollection 2024. Front Cardiovasc Med. 2024. PMID: 39314763 Free PMC article.
The contribution of RBM20 truncating variants to human cardiomyopathy.
Floyd BJ, Njoroge JN, Krysov VA, Gomes B, Murtha R, Aribeana C, Cannie D, Smith E, Paldino A, Brown EE, Barth A, Ilhan E, Johnson R, Wojciak J, Alkhayat M, Graw S, Medo K, Haas J, Chahal CAA, Fenzl K, Steinmetz L, Gollob M, Ashley E, Day S, Judge D, Roberts J, Vedantham V, Mao CY, Fatkin D, Lakdawala NK, Taylor MRG, Mestroni L, Saguner AM, Tayal U, Cadrin-Tourigny J, Krahn AD, James C, Dal Ferro M, Sinagra G, Merlo M, Owens A, Reza N, Saberi S, Helms A, Elliott P, Meder B, Parikh VN. Floyd BJ, et al. Among authors: murtha r. medRxiv [Preprint]. 2025 Jul 27:2025.07.26.25332081. doi: 10.1101/2025.07.26.25332081. medRxiv. 2025. PMID: 40778137 Free PMC article. Preprint.
Identification of genetic modifiers of Huntington's disease somatic CAG repeat instability by in vivo CRISPR-Cas9 genome editing.
Mouro Pinto R, Murtha R, Azevedo A, Douglas C, Kovalenko M, Ulloa J, Crescenti S, Burch Z, Oliver E, Vitalo A, Mota-Silva E, Riggs MJ, Correia K, Elezi E, Demelo B, Carroll JB, Gillis T, Gusella JF, MacDonald ME, Wheeler VC. Mouro Pinto R, et al. Among authors: murtha r. bioRxiv [Preprint]. 2024 Jun 9:2024.06.08.597823. doi: 10.1101/2024.06.08.597823. bioRxiv. 2024. Update in: Nat Genet. 2025 Feb;57(2):314-322. doi: 10.1038/s41588-024-02054-5. PMID: 38895438 Free PMC article. Updated. Preprint.
Huntington's disease LIG1 modifier variant increases ligase fidelity and suppresses somatic CAG repeat expansion.
Lee E, Kim W, Beier DH, Lee Y, Kovalenko M, Saif F, Oliver E, Murtha R, Andrew MA, Gillis T, Demelo B, Srinageshwar B, Ruliera J, Lucente D, Kwak S, Lee R, Pinto RM, MacDonald ME, Gusella JF, O'Brien PJ, Wheeler VC, Seong IS. Lee E, et al. Among authors: murtha r. bioRxiv [Preprint]. 2025 Jul 18:2025.07.15.664798. doi: 10.1101/2025.07.15.664798. bioRxiv. 2025. PMID: 40791503 Free PMC article. Preprint.
Assessing average somatic CAG repeat instability at the protein level.
Aviolat H, Pinto RM, Godschall E, Murtha R, Richey HE, Sapp E, Vodicka P, Wheeler VC, Kegel-Gleason KB, DiFiglia M. Aviolat H, et al. Among authors: murtha r. Sci Rep. 2019 Dec 16;9(1):19152. doi: 10.1038/s41598-019-55202-x. Sci Rep. 2019. PMID: 31844074 Free PMC article.
15 results