2020
Thompson BA, Snow AK, Koptiuch C, Kohlmann WK, Mooney R, Johnson S, Huff CD, Yu Y, Teerlink CC, Feng BJ, Neklason DW, Cannon-Albright LA, Tavtigian SV. A novel ribosomal protein S20 variant in a family with unexplained colorectal cancer and polyposis. Clin Genet. 2020 Jun;97(6):943-944
Grineski S, Morales DX, Collins T, Wilkes J, Bonkowsky JL. Geographic and Specialty Access Disparities in US Pediatric Leukodystrophy Diagnosis. J Pediatr. 2020 May;220:193-199
Hanson HA, Leiser CL, O'Neil B, Martin C, Gupta S, Smith KR, Dechet C, Lowrance WT, Madsen MJ, Camp NJ. Harnessing Population Pedigree Data and Machine Learning Methods to Identify Patterns of Familial Bladder Cancer Risk. Cancer Epidemiol Biomarkers Prev. 2020 May;29(5):918-926
Abbott D, O'Brien S, Farnham JM, Young EL, Yap J, Jones K, Lessnick SL, Randall RL, Schiffman JD, Cannon-Albright LA. Harnessing Population Pedigree Data and Machine Learning Methods to Identify Patterns of Familial Bladder Cancer Risk. Cancer Epidemiol Biomarkers Prev. 2020 May;29(5):918-926
Kleinstern G, Camp NJ, Berndt SI, Birmann BM, Nieters A, Bracci PM, McKay JD, Ghesquières H, Lan Q, Hjalgrim H, Benavente Y, Monnereau A, Wang SS, Zhang Y, Purdue MP, Zeleniuch-Jacquotte A, Giles GG, Vermeulen R, Cocco P, Albanes D, Teras LR, Brooks-Wilson AR, Vajdic CM, Kane E, Caporaso NE, Smedby KE, Salles G, Vijai J, Chanock SJ, Skibola CF, Rothman N, Slager SL, Cerhan JR. Lipid Trait Variants and the Risk of Non-Hodgkin Lymphoma Subtypes: A Mendelian Randomization Study. Cancer Epidemiol Biomarkers Prev. 2020 May;29(5):1074-1078
Boyle JL, Hahn AW, Kapron AL, Kohlmann W, Greenberg SE, Parnell TJ, Teerlink CC, Maughan BL, Feng BJ, Cannon-Albright L, Agarwal N, Cooney KA. Pathogenic Germline DNA Repair Gene and HOXB13 Mutations in Men With Metastatic Prostate Cancer. JCO Precis Oncol. 2020 Mar 4;4:PO
Frisby T, & Contreras J. The National Cancer Institute Cancer Moonshot Public Access and Data Sharing Policy—Initial assessment and implications. Data & Policy, 2, E9
Bruders R, Van Hollebeke H, Osborne EJ, Kronenberg Z, Maclary E, Yandell M, Shapiro MD. A copy number variant is associated with a spectrum of pigmentation patterns in the rock pigeon (Columba livia). PLoS Genetics. 2020 May 20;16(5):e1008274. DOI: 10.1371/journal.pgen.1008274
Crandall H, Kapusta A, Killpack J, Heyrend C, Nilsson K, Dickey M, Daly JA, Ampofo K, Pavia AT, Mulvey MA, Yandell M, Hulten KG, Blaschke AJ. Clinical and molecular epidemiology of invasive Staphylococcus aureus infection in Utah children; continued dominance of MSSA over MRSA. PLoS One. 2020 Sep 18;15(9):e0238991. doi: 10.1371/journal.pone.0238991.
Ledet EM, Lilly MB, Sonpavde G, Lin E, Nussenzveig RH, Barata PC, Yandell M, Nagy RJ, Kiedrowski L, Agarwal N, Sartor O. Comprehensive Analysis of AR Alterations in Circulating Tumor DNA from Patients with Advanced Prostate Cancer. Oncologist. 2020 Apr; 25(4): 327–333. doi: 10.1634/theoncologist.2019-0115
Bjørn-Yoshimoto WE, Ramiro IBL, Yandell M, McIntosh JM, Olivera BM, Ellgaard L, Safavi-Hemami H. Curses or Cures: A Review of the Numerous Benefits Versus the Biosecurity Concerns of Conotoxin Research. Biomedicines. July 22;8(8):235. https://doi.org/10.3390/biomedicines8080235
Bogenschutz EL, Fox ZD, Farrell A, Wynn J, Moore B, Yu L, Aspelund G, Marth G, Yandell M, Shen Y, Chung WK, Kardon G. Deep whole genome sequencing of multiple proband tissues and parental blood reveals the complex genetic etiology of congenital diaphragmatic hernias. bioRxiv preprint doi: https://doi.org/10.1101/2020.04.03.024398.
Richter F, Morton SU, Kim SW, Kitaygorodsky A, Wasson LK, Chen KM, Zhou J, Qi H, Patel N, DePalma SR, Parfenov M, Homsy J, Gorham JM, Manheimer KB, Velinder M, Farrell A, Marth G, Schadt EE, Kaltman JR, Newburger JW, Giardini A, Goldmuntz E, Brueckner M, Kim R, Porter GA Jr, Bernstein D, Chung WK, Srivastava D, Tristani-Firouzi M, Troyanskaya OG, Dickel DE, Shen Y, Seidman JG, Seidman CE, Gelb BD. Genomic analyses implicate noncoding de novo variants in congenital heart disease. Nature Genet. 2020 June 29;52:769–777. https://doi.org/10.1038/s41588-020-0652-z
Nicholas TJ, Cormier MJ, Huang X, Qiao Y, Marth GT, Quinlan AR. OncoGEMINI: Software for Investigating Tumor Variants From Multiple Biopsies With Integrated Cancer Annotations. bioRxiv preprint doi: https://doi.org/10.1101/2020.03.10.979591
Gorsi B, Moriwaki M, Moore MB, Rajkovic A, Nelson LM, Yandell M, Welt CK. OR31-06 Candidate Gene Variants in a Large Cohort of Women with Primary Ovarian Insufficiency. JEndocrine Soc. May 2020;4:Issue Supplement_1. https://doi.org/10.1210/jendso/bvaa046.1419
Dong ZM, Lin E, Wechsler ME, Weller PF, Klion AD, Bochner BS, Delker DA, Hazel MW, Fairfax K, Khoury P, Akuthota P, Merkel PA, Dyer AM, Langford C, Specks U, Gleich GJ, Chinchilli VM, Raby B, Yandell M, Clayton F. Pulmonary Eosinophilic Granulomatosis with Polyangiitis Has IgG4 Plasma Cells and Immunoregulatory Features. Am J Pathol. 2020 July 1;190(7):1438-1448. DOI: 10.1016/j.ajpath.2020.03.005
Carleton JB, Ginley-Hidinger M, Berrett KC, Layer RM, Quinlan AR, Gertz J. Regulatory sharing between estrogen receptor α bound enhancers. Nucleic Acids Res. 2020 Jul 9;48(12):6597-6610. doi: 10.1093/nar/gkaa454
Pedersen BS, Bhetariya PJ, Brown J, Kravitz SN, Marth G, Jensen RL, Bronner MP, Underhill HR, Quinlan AR. Somalier: rapid relatedness estimation for cancer and germline studies using efficient genome sketches. Genome Medicine 2020 12:62. https://doi.org/10.1186/s13073-020-00761-2
Nix DA, Hellwig S, Conley C, Thomas A, Fuertes CL, Hamil CL, Bhetariya PJ, Garrido-Laguna I, Marth GT, Bronner MP, Underhill HR. The stochastic nature of errors in next-generation sequencing of circulating cell-free DNA. PLoS One. 2020 Feb 21;15(2):e0229063. doi: 10.1371/journal.pone.0229063. eCollection 2020. PMID:32084206
Lu A, Watkins M, Li Q, Robinson SD, Concepcion GP, Yandell M, Weng Z, Olivera BM, Safavi-Hemami H, Fedosov AE. Transcriptomic Profiling Reveals Extraordinary Diversity of Venom Peptides in Unexplored Predatory Gastropods of the Genus Clavus. Genome Biol. Evol. 2020 April 23;12(5):684–700. doi:10.1093/gbe/evaa083
Berg JA, Belyeu JR, Morgan JT, Ouyang Y, Bott AJ, Quinlan AR, Gertz J, Rutter J. XPRESSyourself: Enhancing, standardizing, and automating ribosome profiling computational analyses yields improved insight into data. PLoS Comput Biol. 2020 Jan 31;16(1):e1007625. doi: 10.1371/journal.pcbi.1007625. eCollection 2020 Jan.
2019
Feusier, J, Watkins, WS, Thomas, J. Farrell, A, Witherspoon, DJ, Baird, L, Ha, H, Xing, J, Jorde, LB. Pedigree-based estimation of human mobile element retrotransposition rates. Genome Res. October 2019 29: 1567-1577; doi:10.1101/gr.247965.118
Taylor SC, Bernhisel AA, Curtin K, Allingham RR, Ritch R, Wirostko BM. Association between Chronic Obstructive Pulmonary Disease and Exfoliation Syndrome: The Utah Project on Exfoliation Syndrome. Ophthalmol Glaucoma. 2019 Jan-Feb;2(1):3-10
Clay-Gilmour AI, Rishi AR, Goldin LR, Greenberg-Worisek AJ, Achenbach SJ, Rabe KG, Maurer MJ, Kay NE, Shanafelt TD, Call TG, Brice Weinberg J, Camp NJ, Cerhan JR, Leis J, Norman A, Murray DL, Vincent Rajkumar S, Caporaso NE, Landgren O, McMaster ML, Slager SL, Vachon CM. Association of elevated serumfree light chains with chronic lymphocytic leukemia and monoclonal B-cell lymphocytosis. Blood Cancer J. 2019 Aug 5;9(8):59
Brunelli L, Jenkins SM, Gudgeon JM, Bleyl SB, Miller CE, Tvrdik T, Dames SA, Ostrander B, Daboub JAF, Zielinski BA, Zinkhan EK, Underhill HR, Wilson T, Bonkowsky JL, Yost CC, Botto LD, Jenkins J, Pysher TJ, Bayrak-Toydemir P, Mao R. Targeted gene panel sequencing for the rapid diagnosis of acutely ill infants. Mol Genet Genomic Med. 2019 Jul;7(7):e00796
Das SC, Chen D, Callor WB, Christensen E, Coon H, Williams ME. DiI-mediated analysis of presynaptic and postsynaptic structures in human postmortem brain tissue. J Comp Neurol. 2019 Dec 15;527(18):3087-3098
Watkins WS, Hernandez EJ, Wesolowski S, Bisgrove BW, Sunderland RT, Lin E, Lemmon G, Demarest BL, Miller TA, Bernstein D, Brueckner M, Chung WK, Gelb BD, Goldmuntz E, Newburger JW, Seidman CE, Shen Y, Yost HJ, Yandell M, Tristani-Firouzi M. De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes. Nat Commun. 2019 Oct 17;10(1):4722. doi: 10.1038/s41467-019-12582-y
Sasani TA, Pedersen BS, Gao Z, Baird L, Przeworski M, JordeLB, Quinlan AR. Large, three-generation human families reveal post-zygotic mosaicism and variability in germline mutation accumulation. Elife. 2019 Sep 24;8. pii: e46922. doi: 10.7554/eLife.46922. PMID:31549960
Serrano MLA, Demarest BL, Tone-Pah-Hote T, Tristani-FirouziM, Yost HJ. Inhibition of Notch signaling rescues cardiovascular development in Kabuki Syndrome. PLoS Biol. 2019 Sep 3;17(9):e3000087. doi: 10.1371/journal.pbio.3000087. eCollection 2019 Sep. PMID:31479440
Feldkamp ML, Krikov S, Gardner J, Madsen MJ, Darlington T, Sargent R, Camp NJ. Shared genomic segments in high-risk multigenerational pedigrees with gastroschisis. Birth Defects Res. 2019 Aug 5. doi: 10.1002/bdr2.1567. [Epub ahead of print] PMID: 31385443
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Nobre C, Gehlenborg N, Coon H, Lex A. Lineage: Visualizing Multivariate Clinical Data in Genealogy Graphs. IEEE Trans Vis Comput Graph . 2019;25(3):1543–1558. doi:10.1109/TVCG.2018.281148.
Cawthon RM, Meeks HD, Sasani TA, Smith KR, Kerber RA, O'Brien E, Baird L, Dixon MM, Peiffer AP, Leppert MF, Quinlan AR, Jorde LB. Germline mutation rates in young adults predict longevity and reproductive lifespan. Sci Rep. 2020 Jun 19;10(1):10001
Tak CR, et al. Cost-effectiveness of early cancer surveillance for patients with Li-Fraumeni syndrome.Pediatr Blood Cancer. 2019 May;66(5):e27629. doi: 10.1002/pbc.27629. PMID:30719841
Hahn AW, et al. Germline Variant in SLCO2B1and Response to Abiraterone Acetate Plus Prednisone (AA) in New-onset Metastatic Castration-resistant Prostate Cancer(mCRPC).Mol Cancer Ther. 2019 Mar;18(3):726-729. doi: 10.1158/1535-7163.MCT-18-0739. PMID:30587554
2018
Wei X, et al. Germline Lysine-Specific Demethylase 1 (LSD1/KDM1A) Mutations Confer Susceptibility to Multiple Myeloma. Cancer Res. 2018 May 15;78(10):2747-2759. doi: 10.1158/0008-5472.CAN-17-1900. Epub 2018 Mar 20. PubMed PMID: 29559475; PubMed Central PMCID: PMC5955848.
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Jurynec MJ, Sawitzke AD, Beals TC, Redd MJ, Stevens J, Otterud B, Leppert MF, Grunwald DJ. A hyperactivating proinflammatory RIPK2 allele associated with early-onset osteoarthritis. Hum Mol Genet. 2018 Jul 1;27(13):2383-2391. doi: 10.1093/hmg/ddy132. Erratum in: Hum Mol Genet. 2018 Jul 1;27(13):2406. PMID: 29659823
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Al-Agha AE, et al. Primary Ovarian Insufficiency and Azoospermia in Carriers of a Homozygous PSMC3IP Stop Gain Mutation. J Clin Endocrinol Metab. 2018;103(2):555-63. doi: 10.1210/jc.2017-01966. PubMed PMID: 29240891; PMCID: PMC5800840.
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2017
Bloom JL, Lin C, Imundo L, Guthery S, Stepenaskie S, Galambos C, Lowichik A, Bohnsack JF. H syndrome: 5 new cases from the United States with novel features and responses to therapy.Pediatr Rheumatol Online J. 2017Oct 17;15(1):76. doi: 10.1186/s12969-017-0204-y. PubMed PMID: 29041934; PubMed Central PMCID: PMC5645937.
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Ward A, Karren MA, Di Sera T, Miller C, Velinder M, Qiao Y, Filloux FM, OstranderB, ButterfieldR, Bonkowsky JL, Dere W, Marth GT. Rapid clinical diagnostic variant investigation of genomic patient sequencing data with iobioweb tools.J Clin Transl Sci. 2017 Dec;1(6):381-386. PMID:29707261
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2016
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2014
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