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Updated variant curation expert panel criteria and pathogenicity classifications for 251 variants for RYR1-related malignant hyperthermia susceptibility.
Johnston JJ, Dirksen RT, Girard T, Hopkins PM, Kraeva N, Ognoon M, Radenbaugh KB, Riazi S, Robinson RL, Saddic Iii LA, Sambuughin N, Saxena R, Shepherd S, Stowell K, Weber J, Yoo S, Rosenberg H, Biesecker LG. Johnston JJ, et al. Among authors: weber j. Hum Mol Genet. 2022 Nov 28;31(23):4087-4093. doi: 10.1093/hmg/ddac145. Hum Mol Genet. 2022. PMID: 35849058 Free PMC article.
Variant curation expert panel recommendations for RYR1 pathogenicity classifications in malignant hyperthermia susceptibility.
Johnston JJ, Dirksen RT, Girard T, Gonsalves SG, Hopkins PM, Riazi S, Saddic LA, Sambuughin N, Saxena R, Stowell K, Weber J, Rosenberg H, Biesecker LG. Johnston JJ, et al. Among authors: weber j. Genet Med. 2021 Jul;23(7):1288-1295. doi: 10.1038/s41436-021-01125-w. Epub 2021 Mar 25. Genet Med. 2021. PMID: 33767344 Free PMC article.
Genomic Screening for Malignant Hyperthermia Susceptibility.
Biesecker LG, Dirksen RT, Girard T, Hopkins PM, Riazi S, Rosenberg H, Stowell K, Weber J. Biesecker LG, et al. Among authors: weber j. Anesthesiology. 2020 Dec 1;133(6):1277-1282. doi: 10.1097/ALN.0000000000003547. Anesthesiology. 2020. PMID: 32898259 Free PMC article. Review.
Detection of chromosomal aberrations by a whole-genome microsatellite screen.
Rosenberg MJ, Vaske D, Killoran CE, Ning Y, Wargowski D, Hudgins L, Tifft CJ, Meck J, Blancato JK, Rosenbaum K, Pauli RM, Weber J, Biesecker LG. Rosenberg MJ, et al. Among authors: weber j. Am J Hum Genet. 2000 Feb;66(2):419-27. doi: 10.1086/302743. Am J Hum Genet. 2000. PMID: 10677301 Free PMC article.
Mutant deoxynucleotide carrier is associated with congenital microcephaly.
Rosenberg MJ, Agarwala R, Bouffard G, Davis J, Fiermonte G, Hilliard MS, Koch T, Kalikin LM, Makalowska I, Morton DH, Petty EM, Weber JL, Palmieri F, Kelley RI, Schäffer AA, Biesecker LG. Rosenberg MJ, et al. Among authors: weber jl. Nat Genet. 2002 Sep;32(1):175-9. doi: 10.1038/ng948. Epub 2002 Aug 19. Nat Genet. 2002. PMID: 12185364
Governance of Indigenous data in open earth systems science.
Jennings L, Jones K, Taitingfong R, Martinez A, David-Chavez D, Alegado Rʻ, Tofighi-Niaki A, Maldonado J, Thomas B, Dye D, Weber J, Spellman KV, Ketchum S, Duerr R, Johnson N, Balch J, Carroll SR. Jennings L, et al. Among authors: weber j. Nat Commun. 2025 Jan 10;16(1):572. doi: 10.1038/s41467-024-53480-2. Nat Commun. 2025. PMID: 39794335 Free PMC article. Review.
Properties of Maxentropic DNA Synthesis Codes.
Schouhamer Immink K, Weber JH, Cai K. Schouhamer Immink K, et al. Among authors: weber jh. Entropy (Basel). 2024 Nov 27;26(12):1028. doi: 10.3390/e26121028. Entropy (Basel). 2024. PMID: 39766657 Free article.
5,223 results