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Page 1
Dominant-negative variant in SLC1A4 causes an autosomal dominant epilepsy syndrome.
Pujol-Giménez J, Mirzaa G, Blue EE, Albano G, Miller DE, Allworth A, Bennett JT, Byers PH, Chanprasert S, Chen J, Doherty D, Folta AB, Gillentine MA, Glass I, Hing A, Horike-Pyne M, Leppig KA, Parhin A, Ranchalis J, Raskind WH, Rosenthal EA, Schwarze U, Sheppeard S, Strohbehn S, Sybert VP, Timms A, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG)a, Undiagnosed Diseases Network (UDN); Bamshad MJ, Hisama FM, Jarvik GP, Dipple KM, Hediger MA, Stergachis AB. Pujol-Giménez J, et al. Among authors: strohbehn s. Ann Clin Transl Neurol. 2023 Jun;10(6):1046-1053. doi: 10.1002/acn3.51786. Epub 2023 May 16. Ann Clin Transl Neurol. 2023. PMID: 37194416 Free PMC article.
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A.
Stergachis AB, Blue EE, Gillentine MA, Wang LK, Schwarze U, Cortés AS, Ranchalis J, Allworth A, Bland AE, Chanprasert S, Chen J, Doherty D, Folta AB, Glass I, Horike-Pyne M, Huang AY, Khan AT, Leppig KA, Miller DE, Mirzaa G, Parhin A, Raskind WH, Rosenthal EA, Sheppeard S, Strohbehn S, Sybert VP, Tran TT, Wener MH; for University of Washington Center for Mendelian Genomics (UW-CMG), and Undiagnosed Diseases Network (UDN),; Byers PHH, Nelson SF, Bamshad MJ, Dipple KM, Jarvik GP, Hoppins S, Hisama FM. Stergachis AB, et al. Among authors: strohbehn s. Neurol Genet. 2023 Aug 8;9(5):e200090. doi: 10.1212/NXG.0000000000200090. eCollection 2023 Oct. Neurol Genet. 2023. PMID: 37560121 Free PMC article.
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts.
Blue EE, Huang SJ, Khan A, Golden-Grant K, Boyd B, Rosenthal EA, Gillentine MA, Fleming LR, Adams DR, Wolfe L, Allworth A, Bamshad MJ, Caruana NJ, Chanprasert S, Chen J, Dargie N, Doherty D, Friederich MW, Hisama FM, Horike-Pyne M, Lee JC, Donovan TE, Hock DH, Leppig KA, Miller DE, Mirzaa G, Ranchalis J, Raskind WH, Michel CR, Reisdorph R, Schwarze U, Sheppeard S, Strohbehn S, Stroud DA, Sybert VP, Wener MH; University of Washington Center for Rare Disease Research, the Undiagnosed Diseases Network; Stergachis AB, Lam CT, Jarvik GP, Dipple KM, Van Hove JLK, Glass IA. Blue EE, et al. Among authors: strohbehn s. Rare. 2024;2:100040. doi: 10.1016/j.rare.2024.100040. Epub 2024 Aug 14. Rare. 2024. PMID: 39421685 Free PMC article.
Expanding the genetic and phenotypic landscape of replication factor C complex-related disorders: RFC4 deficiency is linked to a multisystemic disorder.
Morimoto M, Ryu E, Steger BJ, Dixit A, Saito Y, Yoo J, van der Ven AT, Hauser N, Steinbach PJ, Oura K, Huang AY, Kortüm F, Ninomiya S, Rosenthal EA, Robinson HK, Guegan K, Denecke J, Subramony SH, Diamonstein CJ, Ping J, Fenner M, Balton EV, Strohbehn S, Allworth A, Bamshad MJ, Gandhi M, Dipple KM, Blue EE, Jarvik GP; University of Washington Center for Rare Disease Research; Lau CC, Holm IA, Weisz-Hubshman M, Solomon BD; Undiagnosed Diseases Network; Nelson SF, Nishino I, Adams DR, Kang S, Gahl WA, Toro C, Myung K, Malicdan MCV. Morimoto M, et al. Among authors: strohbehn s. Am J Hum Genet. 2024 Sep 5;111(9):1970-1993. doi: 10.1016/j.ajhg.2024.07.008. Epub 2024 Aug 5. Am J Hum Genet. 2024. PMID: 39106866
De novo variants in PLCG1 are associated with hearing impairment, ocular pathology, and cardiac defects.
Ma M, Zheng Y, Lu S, Pan X, Worley KC, Burrage LC, Blieden LS, Allworth A, Chen WL, Merla G, Mandriani B, Rosenfeld JA, Li-Kroeger D, Dutta D, Yamamoto S, Wangler MF; Undiagnosed Diseases Network; Glass IA, Strohbehn S, Blue E, Prontera P, Lalani SR, Bellen HJ. Ma M, et al. Among authors: strohbehn s. medRxiv [Preprint]. 2024 Jan 9:2024.01.08.23300523. doi: 10.1101/2024.01.08.23300523. medRxiv. 2024. PMID: 38260438 Free PMC article. Preprint.
Synchronized long-read genome, methylome, epigenome, and transcriptome for resolving a Mendelian condition.
Vollger MR, Korlach J, Eldred KC, Swanson E, Underwood JG, Cheng YH, Ranchalis J, Mao Y, Blue EE, Schwarze U, Munson KM, Saunders CT, Wenger AM, Allworth A, Chanprasert S, Duerden BL, Glass I, Horike-Pyne M, Kim M, Leppig KA, McLaughlin IJ, Ogawa J, Rosenthal EA, Sheppeard S, Sherman SM, Strohbehn S, Yuen AL; University of Washington Center for Mendelian Genomics (UW-CMG), Undiagnosed Diseases Network (UDN); Reh TA, Byers PH, Bamshad MJ, Hisama FM, Jarvik GP, Sancak Y, Dipple KM, Stergachis AB. Vollger MR, et al. Among authors: strohbehn s. bioRxiv [Preprint]. 2023 Sep 27:2023.09.26.559521. doi: 10.1101/2023.09.26.559521. bioRxiv. 2023. PMID: 37808736 Free PMC article. Preprint.
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A.
Stergachis AB, Blue EE, Gillentine MA, Wang LK, Schwarze U, Cortés AS, Ranchalis J, Allworth A, Bland AE, Chanprasert S, Chen J, Doherty D, Folta AB, Glass I, Horike-Pyne M, Huang AY, Khan AT, Leppig KA, Miller DE, Mirzaa G, Parhin A, Raskind W, Rosenthal EA, Sheppeard S, Strohbehn S, Sybert VP, Tran TT, Wener M; University of Washington Center for Mendelian Genomics (UW-CMG), Undiagnosed Diseases Network (UDN); Byers PH, Nelson SF, Bamshad MJ, Dipple KM, Jarvik GP, Hoppins S, Hisama FM. Stergachis AB, et al. Among authors: strohbehn s. bioRxiv [Preprint]. 2023 Feb 7:2023.02.07.526487. doi: 10.1101/2023.02.07.526487. bioRxiv. 2023. Update in: Neurol Genet. 2023 Aug 8;9(5):e200090. doi: 10.1212/NXG.0000000000200090 PMID: 36798371 Free PMC article. Updated. Preprint.
Effect of Cancer Stage on Adverse Kidney Outcomes in Patients Receiving Immune Checkpoint Inhibitors for Melanoma.
Wang Q, Strohbehn IA, Zhao S, Seethapathy H, Strohbehn SD, Hanna P, Lee M, Fadden R, Sullivan RJ, Boland GM, Reynolds KL, Sise ME. Wang Q, et al. Among authors: strohbehn sd. Kidney Int Rep. 2022 Sep 8;7(11):2517-2521. doi: 10.1016/j.ekir.2022.08.030. eCollection 2022 Nov. Kidney Int Rep. 2022. PMID: 36531890 Free PMC article. No abstract available.
Acute Kidney Injury Following Encorafenib and Binimetinib for Metastatic Melanoma.
Seethapathy H, Bates H, Chute DF, Strohbehn I, Strohbehn S, Fadden RM, Reynolds KL, Cohen JV, Sullivan RJ, Sise ME. Seethapathy H, et al. Among authors: strohbehn s. Kidney Med. 2020 Apr 18;2(3):373-375. doi: 10.1016/j.xkme.2020.01.012. eCollection 2020 May-Jun. Kidney Med. 2020. PMID: 32734258 Free PMC article. No abstract available.
12 results