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86 results

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Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.
Silverstein S, Ganapathy KR, Donkervoort S, Bolduc V, Hu Y, Moy J, Uapinyoying P, Gorokhova S, Ganesh V, Weisburd B, Orbach R, Foley AR, Mohammadi P, Adams DR, Bönnemann CG. Silverstein S, et al. Among authors: weisburd b. medRxiv [Preprint]. 2026 Jan 28:2026.01.27.26344940. doi: 10.64898/2026.01.27.26344940. medRxiv. 2026. PMID: 41646813 Free PMC article. Preprint.
Benchmarking RNA-seq Tools for Real-World Diagnostic Applications.
Silverstein S, Ganapathy K, Donkervoort S, Bolduc V, Hu Y, Moy J, Uapinyoying P, Gorokhova S, Ganesh V, Weisburd B, OrBach R, Foley AR, Mohammadi P, Adams D, Bonnemann C. Silverstein S, et al. Among authors: weisburd b. Res Sq [Preprint]. 2026 Jan 29:rs.3.rs-8622051. doi: 10.21203/rs.3.rs-8622051/v1. Res Sq. 2026. PMID: 41646366 Free PMC article. Preprint.
The role of disease-associated short tandem repeats in amyotrophic lateral sclerosis.
van Vugt JJFA, Zwamborn RAJ, Dolzhenko E, Eberle MA, Weisburd B, Bekema E, Kooyman M, Wang BN; Project MinE ALS Sequencing Consortium; Kamsteeg EJ, Losekoot M, Baas F, Novy C, Høyer H, van Eijk RPA, van Es MA, van Rheenen W, Al-Chalabi A, van den Berg LH, Veldink JH. van Vugt JJFA, et al. Among authors: weisburd b. Brain Commun. 2025 Dec 9;7(6):fcaf482. doi: 10.1093/braincomms/fcaf482. eCollection 2025. Brain Commun. 2025. PMID: 41426430 Free PMC article.
Defining a tandem repeat catalog and variation clusters for genome-wide analyses.
Weisburd B, Dolzhenko E, Bennett MF, Danzi MC, Xu IRL, Tanudisastro H, Gu B, English A, Hiatt L, Mokveld T, De Sena Brandine G, Chiu R, Kurtas NE, Jam HZ, Brand H, Babu ISR, Bahlo M, Chaisson MJ, Züchner S, Gymrek M, Dashnow H, Eberle MA, Rehm HL. Weisburd B, et al. bioRxiv [Preprint]. 2025 Dec 29:2024.10.04.615514. doi: 10.1101/2024.10.04.615514. bioRxiv. 2025. PMID: 41279208 Free PMC article. Preprint.
GREGoR: accelerating genomics for rare diseases.
Dawood M, Heavner B, Wheeler MM, Ungar RA, LoTempio J, Wiel L, Berger S, Bernstein JA, Chong JX, Délot EC, Eichler EE, Lupski JR, Shojaie A, Talkowski ME, Wagner AH, Wei CL, Wellington C, Wheeler MT; GREGoR Partner Members; Carvalho CMB, Gibbs RA, Gifford CA, May S, Miller DE, Rehm HL, Samocha KE, Sedlazeck FJ, Vilain E, O'Donnell-Luria A, Posey JE, Chadwick LH, Bamshad MJ, Montgomery SB; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium. Dawood M, et al. Nature. 2025 Nov;647(8089):331-342. doi: 10.1038/s41586-025-09613-8. Epub 2025 Nov 12. Nature. 2025. PMID: 41224980
Significant underascertainment in Huntington's disease.
Lee S, Weisburd B, Lee J, Correia K, Zeng S, Park SS, Shin JW, Choi DE, Kim KH, Jang JH, Gillis T, Rehm HL, Gusella JF, MacDonald ME, Lee JM. Lee S, et al. Among authors: weisburd b. Brain Commun. 2025 May 20;7(3):fcaf194. doi: 10.1093/braincomms/fcaf194. eCollection 2025. Brain Commun. 2025. PMID: 40454200 Free PMC article.
86 results