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An automated 13.5 hour system for scalable diagnosis and acute management guidance for genetic diseases.
Owen MJ, Lefebvre S, Hansen C, Kunard CM, Dimmock DP, Smith LD, Scharer G, Mardach R, Willis MJ, Feigenbaum A, Niemi AK, Ding Y, Van Der Kraan L, Ellsworth K, Guidugli L, Lajoie BR, McPhail TK, Mehtalia SS, Chau KK, Kwon YH, Zhu Z, Batalov S, Chowdhury S, Rego S, Perry J, Speziale M, Nespeca M, Wright MS, Reese MG, De La Vega FM, Azure J, Frise E, Rigby CS, White S, Hobbs CA, Gilmer S, Knight G, Oriol A, Lenberg J, Nahas SA, Perofsky K, Kim K, Carroll J, Coufal NG, Sanford E, Wigby K, Weir J, Thomson VS, Fraser L, Lazare SS, Shin YH, Grunenwald H, Lee R, Jones D, Tran D, Gross A, Daigle P, Case A, Lue M, Richardson JA, Reynders J, Defay T, Hall KP, Veeraraghavan N, Kingsmore SF. Owen MJ, et al. Among authors: grunenwald h. Nat Commun. 2022 Jul 26;13(1):4057. doi: 10.1038/s41467-022-31446-6. Nat Commun. 2022. PMID: 35882841 Free PMC article.
Diagnosis of genetic diseases in seriously ill children by rapid whole-genome sequencing and automated phenotyping and interpretation.
Clark MM, Hildreth A, Batalov S, Ding Y, Chowdhury S, Watkins K, Ellsworth K, Camp B, Kint CI, Yacoubian C, Farnaes L, Bainbridge MN, Beebe C, Braun JJA, Bray M, Carroll J, Cakici JA, Caylor SA, Clarke C, Creed MP, Friedman J, Frith A, Gain R, Gaughran M, George S, Gilmer S, Gleeson J, Gore J, Grunenwald H, Hovey RL, Janes ML, Lin K, McDonagh PD, McBride K, Mulrooney P, Nahas S, Oh D, Oriol A, Puckett L, Rady Z, Reese MG, Ryu J, Salz L, Sanford E, Stewart L, Sweeney N, Tokita M, Van Der Kraan L, White S, Wigby K, Williams B, Wong T, Wright MS, Yamada C, Schols P, Reynders J, Hall K, Dimmock D, Veeraraghavan N, Defay T, Kingsmore SF. Clark MM, et al. Among authors: grunenwald h. Sci Transl Med. 2019 Apr 24;11(489):eaat6177. doi: 10.1126/scitranslmed.aat6177. Sci Transl Med. 2019. PMID: 31019026 Free PMC article.
Assessing reproducibility of inherited variants detected with short-read whole genome sequencing.
Pan B, Ren L, Onuchic V, Guan M, Kusko R, Bruinsma S, Trigg L, Scherer A, Ning B, Zhang C, Glidewell-Kenney C, Xiao C, Donaldson E, Sedlazeck FJ, Schroth G, Yavas G, Grunenwald H, Chen H, Meinholz H, Meehan J, Wang J, Yang J, Foox J, Shang J, Miclaus K, Dong L, Shi L, Mohiyuddin M, Pirooznia M, Gong P, Golshani R, Wolfinger R, Lababidi S, Sahraeian SME, Sherry S, Han T, Chen T, Shi T, Hou W, Ge W, Zou W, Guo W, Bao W, Xiao W, Fan X, Gondo Y, Yu Y, Zhao Y, Su Z, Liu Z, Tong W, Xiao W, Zook JM, Zheng Y, Hong H. Pan B, et al. Among authors: grunenwald h. Genome Biol. 2022 Jan 3;23(1):2. doi: 10.1186/s13059-021-02569-8. Genome Biol. 2022. PMID: 34980216 Free PMC article.
Bead-linked transposomes enable a normalization-free workflow for NGS library preparation.
Bruinsma S, Burgess J, Schlingman D, Czyz A, Morrell N, Ballenger C, Meinholz H, Brady L, Khanna A, Freeberg L, Jackson RG, Mathonet P, Verity SC, Slatter AF, Golshani R, Grunenwald H, Schroth GP, Gormley NA. Bruinsma S, et al. Among authors: grunenwald h. BMC Genomics. 2018 Oct 1;19(1):722. doi: 10.1186/s12864-018-5096-9. BMC Genomics. 2018. PMID: 30285621 Free PMC article.
Whole-genome characterization of human and simian immunodeficiency virus intrahost diversity by ultradeep pyrosequencing.
Bimber BN, Dudley DM, Lauck M, Becker EA, Chin EN, Lank SM, Grunenwald HL, Caruccio NC, Maffitt M, Wilson NA, Reed JS, Sosman JM, Tarosso LF, Sanabani S, Kallas EG, Hughes AL, O'Connor DH. Bimber BN, et al. Among authors: grunenwald hl. J Virol. 2010 Nov;84(22):12087-92. doi: 10.1128/JVI.01378-10. Epub 2010 Sep 15. J Virol. 2010. PMID: 20844037 Free PMC article.
Optimization of polymerase chain reactions.
Grunenwald H. Grunenwald H. Methods Mol Biol. 2003;226:89-100. doi: 10.1385/1-59259-384-4:89. Methods Mol Biol. 2003. PMID: 12958489 No abstract available.
Connexin Hemichannels: Methods for Dye Uptake and Leakage.
Johnson RG, Le HC, Evenson K, Loberg SW, Myslajek TM, Prabhu A, Manley AM, O'Shea C, Grunenwald H, Haddican M, Fitzgerald PM, Robinson T, Cisterna BA, Sáez JC, Liu TF, Laird DW, Sheridan JD. Johnson RG, et al. Among authors: grunenwald h. J Membr Biol. 2016 Dec;249(6):713-741. doi: 10.1007/s00232-016-9925-y. Epub 2016 Sep 1. J Membr Biol. 2016. PMID: 27586664