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Beyond the exome: What's next in diagnostic testing for Mendelian conditions.
Wojcik MH, Reuter CM, Marwaha S, Mahmoud M, Duyzend MH, Barseghyan H, Yuan B, Boone PM, Groopman EE, Délot EC, Jain D, Sanchis-Juan A; Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium; Starita LM, Talkowski M, Montgomery SB, Bamshad MJ, Chong JX, Wheeler MT, Berger SI, O'Donnell-Luria A, Sedlazeck FJ, Miller DE. Wojcik MH, et al. Among authors: starita lm. Am J Hum Genet. 2023 Aug 3;110(8):1229-1248. doi: 10.1016/j.ajhg.2023.06.009. Am J Hum Genet. 2023. PMID: 37541186 Free PMC article. Review.
Evidence for Limited Early Spread of COVID-19 Within the United States, January-February 2020.
CDC COVID-19 Response Team; Jorden MA, Rudman SL, Villarino E, Hoferka S, Patel MT, Bemis K, Simmons CR, Jespersen M, Iberg Johnson J, Mytty E, Arends KD, Henderson JJ, Mathes RW, Weng CX, Duchin J, Lenahan J, Close N, Bedford T, Boeckh M, Chu HY, Englund JA, Famulare M, Nickerson DA, Rieder MJ, Shendure J, Starita LM. CDC COVID-19 Response Team, et al. Among authors: starita lm. MMWR Morb Mortal Wkly Rep. 2020 Jun 5;69(22):680-684. doi: 10.15585/mmwr.mm6922e1. MMWR Morb Mortal Wkly Rep. 2020. PMID: 32497028 Free PMC article.
Genomic surveillance reveals multiple introductions of SARS-CoV-2 into Northern California.
Deng X, Gu W, Federman S, du Plessis L, Pybus OG, Faria NR, Wang C, Yu G, Bushnell B, Pan CY, Guevara H, Sotomayor-Gonzalez A, Zorn K, Gopez A, Servellita V, Hsu E, Miller S, Bedford T, Greninger AL, Roychoudhury P, Starita LM, Famulare M, Chu HY, Shendure J, Jerome KR, Anderson C, Gangavarapu K, Zeller M, Spencer E, Andersen KG, MacCannell D, Paden CR, Li Y, Zhang J, Tong S, Armstrong G, Morrow S, Willis M, Matyas BT, Mase S, Kasirye O, Park M, Masinde G, Chan C, Yu AT, Chai SJ, Villarino E, Bonin B, Wadford DA, Chiu CY. Deng X, et al. Among authors: starita lm. Science. 2020 Jul 31;369(6503):582-587. doi: 10.1126/science.abb9263. Epub 2020 Jun 8. Science. 2020. PMID: 32513865 Free PMC article.
A Genomic Survey of SARS-CoV-2 Reveals Multiple Introductions into Northern California without a Predominant Lineage.
Deng X, Gu W, Federman S, du Plessis L, Pybus OG, Faria N, Wang C, Yu G, Pan CY, Guevara H, Sotomayor-Gonzalez A, Zorn K, Gopez A, Servellita V, Hsu E, Miller S, Bedford T, Greninger AL, Roychoudhury P, Starita LM, Famulare M, Chu HY, Shendure J, Jerome KR, Anderson C, Gangavarapu K, Zeller M, Spencer E, Andersen KG, MacCannell D, Paden CR, Li Y, Zhang J, Tong S, Armstrong G, Morrow S, Willis M, Matyas BT, Mase S, Kasirye O, Park M, Chan C, Yu AT, Chai SJ, Villarino E, Bonin B, Wadford DA, Chiu CY. Deng X, et al. Among authors: starita lm. medRxiv [Preprint]. 2020 Mar 30:2020.03.27.20044925. doi: 10.1101/2020.03.27.20044925. medRxiv. 2020. PMID: 32511579 Free PMC article. Updated. Preprint.
Viral genomes reveal patterns of the SARS-CoV-2 outbreak in Washington State.
Müller NF, Wagner C, Frazar CD, Roychoudhury P, Lee J, Moncla LH, Pelle B, Richardson M, Ryke E, Xie H, Shrestha L, Addetia A, Rachleff VM, Lieberman NAP, Huang ML, Gautom R, Melly G, Hiatt B, Dykema P, Adler A, Brandstetter E, Han PD, Fay K, Llcisin M, Lacombe K, Sibley TR, Truong M, Wolf CR, Boeckh M, Englund JA, Famulare M, Lutz BR, Rieder MJ, Thompson M, Duchin JS, Starita LM, Chu HY, Shendure J, Jerome KR, Lindquist S, Greninger AL, Nickerson DA, Bedford T. Müller NF, et al. Among authors: starita lm. medRxiv [Preprint]. 2020 Sep 30:2020.09.30.20204230. doi: 10.1101/2020.09.30.20204230. medRxiv. 2020. PMID: 33024981 Free PMC article. Updated. Preprint.
Variant Interpretation: Functional Assays to the Rescue.
Starita LM, Ahituv N, Dunham MJ, Kitzman JO, Roth FP, Seelig G, Shendure J, Fowler DM. Starita LM, et al. Am J Hum Genet. 2017 Sep 7;101(3):315-325. doi: 10.1016/j.ajhg.2017.07.014. Am J Hum Genet. 2017. PMID: 28886340 Free PMC article.
104 results