Publications by authors named "Elaine R Mardis"

100Publications

Genetic Characterization of Pediatric Sarcomas by Targeted RNA Sequencing.

J Mol Diagn 2020 Aug 1. Epub 2020 Aug 1.

Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio; Department of Pathology, Wexner Medical Center, The Ohio State University, Columbus, Ohio. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2020.07.004DOI Listing
August 2020

Landscape of somatic single nucleotide variants and indels in colorectal cancer and impact on survival.

Nat Commun 2020 07 20;11(1):3644. Epub 2020 Jul 20.

Public Health Sciences Division, Fred Hutchinson Cancer Research Centre, 1100 Fairview Ave N, Seattle, WA, 98109, USA.

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http://dx.doi.org/10.1038/s41467-020-17386-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7371703PMC
July 2020

Somatic mosaicism correlates with clinical findings in epilepsy brain tissue.

Neurol Genet 2020 Aug 17;6(4):e460. Epub 2020 Jun 17.

The Steve and Cindy Rasmussen Institute for Genomic Medicine (K.E.M., D.C.K., K.M.S., T.A.B., E.C., K.L., V.M., H.Z., P.B., J.B., J.F., N.B., A.R.M., C.E.C., P.W., R.K.W., E.R.M.), Abigail Wexner Research Institute at Nationwide Children's Hospital, Columbus, OH; Division of Genetic and Genomic Medicine (E.C.), Nationwide Children's Hospital, Columbus, OH; Department of Neurosurgery (A.S., J.L., J.A.P.), Nationwide Children's Hospital, Columbus, OH; Department of Pathology and Laboratory Medicine (C.R.P.), Nationwide Children's Hospital, Columbus, OH; Division of Child Neurology (A.P.O.), Nationwide Children's Hospital, Columbus, OH; Department of Radiology (J.A.R., S.H.S), Nationwide Children's Hospital, Columbus, OH; Department of Pediatrics (D.C.K., V.M., C.E.C., J.L., P.W., R.K.W, E.R.M., A.P.O.), The Ohio State University College of Medicine, Columbus, OH; Department of Neurosurgery (J.L., J.A.P., A.P.O.), The Ohio State University College of Medicine, Columbus, OH; Department of Pathology (C.E.C., C.R.P.), The Ohio State University College of Medicine, Columbus, OH; and Department of Biomedical Education & Anatomy (C.R.P.), Division of Anatomy, The Ohio State University College of Medicine, Columbus, OH.

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http://dx.doi.org/10.1212/NXG.0000000000000460DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7323482PMC
August 2020

Neoantigens and genome instability: impact on immunogenomic phenotypes and immunotherapy response.

Authors:
Elaine R Mardis

Genome Med 2019 11 20;11(1):71. Epub 2019 Nov 20.

Institute for Genomic Medicine at Nationwide Children's Hospital, The Ohio State University College of Medicine, Children's Drive, Colombus, OH, 43205, USA.

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http://dx.doi.org/10.1186/s13073-019-0684-0DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6865009PMC
November 2019

Immunotherapeutic Challenges for Pediatric Cancers.

Mol Ther Oncolytics 2019 Dec 28;15:38-48. Epub 2019 Aug 28.

The Research Institute at Nationwide Children's Hospital, Center for Childhood Cancer and Blood Diseases, The Ohio State University College of Medicine, Columbus, OH, USA.

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http://dx.doi.org/10.1016/j.omto.2019.08.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6804520PMC
December 2019

Pediatric cancer: case studies illustrate mechanisms to address significant challenges.

Cold Spring Harb Mol Case Stud 2019 10 23;5(5). Epub 2019 Oct 23.

Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43215, USA.

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http://dx.doi.org/10.1101/mcs.a004788DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824256PMC
October 2019

Research-based PAM50 signature and long-term breast cancer survival.

Breast Cancer Res Treat 2020 Jan 21;179(1):197-206. Epub 2019 Sep 21.

Department of Family Medicine and Public Health, University of California, San Diego, 3855 Health Sciences Drive #0901, La Jolla, CA, 92093-0901, USA.

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http://dx.doi.org/10.1007/s10549-019-05446-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6985186PMC
January 2020

Samovar: Single-Sample Mosaic Single-Nucleotide Variant Calling with Linked Reads.

iScience 2019 Aug 29;18:1-10. Epub 2019 May 29.

Department of Computer Science, Johns Hopkins University, Baltimore, MD, USA; Department of Biology, Johns Hopkins University, Baltimore, MD, USA; Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA. Electronic address:

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http://dx.doi.org/10.1016/j.isci.2019.05.037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6609817PMC
August 2019

Expanding the clinical history associated with syndromic Klippel-Feil: A unique case of comorbidity with medulloblastoma.

Eur J Med Genet 2019 Aug 10;62(8):103701. Epub 2019 Jun 10.

Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA; Department of Pathology, The Ohio State University College of Medicine, Columbus, OH, USA.

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http://dx.doi.org/10.1016/j.ejmg.2019.103701DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7285001PMC
August 2019

miRNAs and Long-term Breast Cancer Survival: Evidence from the WHEL Study.

Cancer Epidemiol Biomarkers Prev 2019 09 11;28(9):1525-1533. Epub 2019 Jun 11.

Department of Family Medicine and Public Health, University of California, San Diego, La Jolla, California.

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http://dx.doi.org/10.1158/1055-9965.EPI-18-1322DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6726562PMC
September 2019

Precision oncogenomics.

Cold Spring Harb Mol Case Stud 2019 04 1;5(2). Epub 2019 Apr 1.

Nationwide Children's Hospital and the Ohio State University, Columbus, Ohio 43215, USA.

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http://dx.doi.org/10.1101/mcs.a004150DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6549571PMC
April 2019

Next-Generation Sequencing Technologies.

Cold Spring Harb Perspect Med 2019 11 1;9(11). Epub 2019 Nov 1.

Institute for Genomic Medicine at Nationwide Children's Hospital, The Ohio State University College of Medicine, The Institute for Genomic Medicine, Columbus, Ohio 43205.

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http://dx.doi.org/10.1101/cshperspect.a036798DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6824406PMC
November 2019

The Impact of Next-Generation Sequencing on Cancer Genomics: From Discovery to Clinic.

Authors:
Elaine R Mardis

Cold Spring Harb Perspect Med 2019 09 3;9(9). Epub 2019 Sep 3.

The Ohio State University College of Medicine, Columbus, Ohio 43205.

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http://perspectivesinmedicine.cshlp.org/lookup/doi/10.1101/c
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http://dx.doi.org/10.1101/cshperspect.a036269DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6719592PMC
September 2019

Identification of Therapeutic Targets in Rhabdomyosarcoma through Integrated Genomic, Epigenomic, and Proteomic Analyses.

Cancer Cell 2018 09 23;34(3):411-426.e19. Epub 2018 Aug 23.

Department of Developmental Neurobiology, St. Jude Children's Research Hospital, 262 Danny Thomas Place, MS 323, Memphis, TN 38105-3678, USA; Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, TN 38105, USA; Howard Hughes Medical Institute, Chevy Chase, MD 20815, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ccell.2018.07.012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6158019PMC
September 2018

Oral Cavity Squamous Cell Carcinoma Xenografts Retain Complex Genotypes and Intertumor Molecular Heterogeneity.

Cell Rep 2018 08;24(8):2167-2178

McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63108, USA; Department of Medicine, Division of Medical Oncology, Washington University School of Medicine, St. Louis, MO 63108, USA; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63108, USA; Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO 63108, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22111247183116
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http://dx.doi.org/10.1016/j.celrep.2018.07.058DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6417872PMC
August 2018

New additions to the cancer precision medicine toolkit.

Authors:
Elaine R Mardis

Genome Med 2018 04 13;10(1):28. Epub 2018 Apr 13.

Institute for Genomic Medicine at Nationwide Children's Hospital, 575 Children's Crossroad, Columbus, OH, 43205, USA.

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http://dx.doi.org/10.1186/s13073-018-0540-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5899382PMC
April 2018

The era of precision oncogenomics.

Cold Spring Harb Mol Case Stud 2018 04 2;4(2). Epub 2018 Apr 2.

Institute for Genomic Medicine at Nationwide Children's Hospital and Department of Pediatrics, The Ohio State University, Columbus, Ohio 43215, USA.

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http://dx.doi.org/10.1101/mcs.a002915DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5880272PMC
April 2018

The emerging clinical relevance of genomics in cancer medicine.

Nat Rev Clin Oncol 2018 06;15(6):353-365

Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.

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http://dx.doi.org/10.1038/s41571-018-0002-6DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6658089PMC
June 2018

Resistance-promoting effects of ependymoma treatment revealed through genomic analysis of multiple recurrences in a single patient.

Cold Spring Harb Mol Case Stud 2018 04 2;4(2). Epub 2018 Apr 2.

Institute for Genomic Medicine, Nationwide Children's Hospital, and The Ohio State University College of Medicine, Columbus, Ohio 43205, USA.

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http://molecularcasestudies.cshlp.org/lookup/doi/10.1101/mcs
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http://dx.doi.org/10.1101/mcs.a002444DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5880262PMC
April 2018

Clinical and Genomic Insights from Metastatic Cancers.

Authors:
Elaine R Mardis

Clin Chem 2018 05 4;64(5):766-768. Epub 2018 Jan 4.

Nationwide Children's Hospital and Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH.

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http://dx.doi.org/10.1373/clinchem.2017.281501DOI Listing
May 2018

TP53 Germline Variations Influence the Predisposition and Prognosis of B-Cell Acute Lymphoblastic Leukemia in Children.

J Clin Oncol 2018 02 4;36(6):591-599. Epub 2018 Jan 4.

Maoxiang Qian, Xueyuan Cao, Wenjian Yang, Cheng Cheng, Hui Zhang, Takaya Moriyama, Gerard Zambetti, Kim E. Nichols, Ching-Hon Pui, Charles G. Mullighan, William E. Evans, Mary V. Relling, and Jun J. Yang, St Jude Children's Research Hospital, Memphis, TN; Meenakshi Devidas and Yunfeng Dai, University of Florida, Gainesville, FL; Andrew Carroll, University of Alabama at Birmingham, Birmingham, AL; Nyla A. Heerema and Julie M. Gastier-Foster, The Ohio State University and Wexner Medical Center; Julie M. Gastier-Foster and Elaine R. Mardis, Nationwide Children's Hospital, Columbus, OH; Hui Zhang, The First Affiliated Hospital of Guangzhou Medical University, Guangzhou, Guangdong; Heng Xu, West China Hospital, Sichuan University and Collaborative Innovation Center, Chengdu, China; Elizabeth Raetz, University of Utah, Salt Lake City, UT; Eric Larsen, Maine Children's Cancer Program, Scarborough, ME; Naomi Winick, University of Texas Southwestern Medical Center, Dallas; W. Paul Bowman, Cook Children's Medical Center, Fort Worth, TX; Paul L. Martin, Duke University, Durham, NC; Robert Fulton, Washington University School of Medicine, St Louis, MO; Michael Borowitz, Johns Hopkins Medical Institute, Baltimore, MD; Brent Wood, University of Washington, Seattle, WA; William L. Carroll, New York University, New York, NY; Stephen P. Hunger, Children's Hospital of Philadelphia and University of Pennsylvania, Philadelphia, PA; and Mignon L. Loh, Benioff Children's Hospital and University of California, San Francisco, San Francisco, CA.

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http://dx.doi.org/10.1200/JCO.2017.75.5215DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5815403PMC
February 2018

Comprehensive discovery of noncoding RNAs in acute myeloid leukemia cell transcriptomes.

Exp Hematol 2017 11 28;55:19-33. Epub 2017 Jul 28.

The McDonnell Genome Institute, Washington University, St. Louis, MO; Department of Medicine, Washington University, St. Louis, MO; Siteman Cancer Center, Washington University, St. Louis, MO; Department of Biomedical Engineering, Washington University, St. Louis, MO. Electronic address:

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http://dx.doi.org/10.1016/j.exphem.2017.07.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5772960PMC
November 2017

Retrotransposons Are the Major Contributors to the Expansion of the Muller F Element.

Authors:
Wilson Leung Christopher D Shaffer Elizabeth J Chen Thomas J Quisenberry Kevin Ko John M Braverman Thomas C Giarla Nathan T Mortimer Laura K Reed Sheryl T Smith Srebrenka Robic Shannon R McCartha Danielle R Perry Lindsay M Prescod Zenyth A Sheppard Ken J Saville Allison McClish Emily A Morlock Victoria R Sochor Brittney Stanton Isaac C Veysey-White Dennis Revie Luis A Jimenez Jennifer J Palomino Melissa D Patao Shane M Patao Edward T Himelblau Jaclyn D Campbell Alexandra L Hertz Maddison F McEvilly Allison R Wagner James Youngblom Baljit Bedi Jeffery Bettincourt Erin Duso Maiye Her William Hilton Samantha House Masud Karimi Kevin Kumimoto Rebekah Lee Darryl Lopez George Odisho Ricky Prasad Holly Lyn Robbins Tanveer Sandhu Tracy Selfridge Kara Tsukashima Hani Yosif Nighat P Kokan Latia Britt Alycia Zoellner Eric P Spana Ben T Chlebina Insun Chong Harrison Friedman Danny A Mammo Chun L Ng Vinayak S Nikam Nicholas U Schwartz Thomas Q Xu Martin G Burg Spencer M Batten Lindsay M Corbeill Erica Enoch Jesse J Ensign Mary E Franks Breanna Haiker Judith A Ingles Lyndsay D Kirkland Joshua M Lorenz-Guertin Jordan Matthews Cody M Mittig Nicholaus Monsma Katherine J Olson Guillermo Perez-Aragon Alen Ramic Jordan R Ramirez Christopher Scheiber Patrick A Schneider Devon E Schultz Matthew Simon Eric Spencer Adam C Wernette Maxine E Wykle Elizabeth Zavala-Arellano Mitchell J McDonald Kristine Ostby Peter Wendland Justin R DiAngelo Alexis M Ceasrine Amanda H Cox James E B Docherty Robert M Gingras Stephanie M Grieb Michael J Pavia Casey L Personius Grzegorz L Polak Dale L Beach Heaven L Cerritos Edward A Horansky Karim A Sharif Ryan Moran Susan Parrish Kirsten Bickford Jennifer Bland Juliana Broussard Kerry Campbell Katelynn E Deibel Richard Forka Monika C Lemke Marlee B Nelson Catherine O'Keeffe S Mariel Ramey Luke Schmidt Paola Villegas Christopher J Jones Stephanie L Christ Sami Mamari Adam S Rinaldi Ghazal Stity Amy T Hark Mark Scheuerman S Catherine Silver Key Briana D McRae Adam S Haberman Sam Asinof Harriette Carrington Kelly Drumm Terrance Embry Richard McGuire Drew Miller-Foreman Stella Rosen Nadia Safa Darrin Schultz Matt Segal Yakov Shevin Petros Svoronos Tam Vuong Gary Skuse Don W Paetkau Rachael K Bridgman Charlotte M Brown Alicia R Carroll Francesca M Gifford Julie Beth Gillespie Susan E Herman Krystal L Holtcamp Misha A Host Gabrielle Hussey Danielle M Kramer Joan Q Lawrence Madeline M Martin Ellen N Niemiec Ashleigh P O'Reilly Olivia A Pahl Guadalupe Quintana Elizabeth A S Rettie Torie L Richardson Arianne E Rodriguez Mona O Rodriguez Laura Schiraldi Joanna J Smith Kelsey F Sugrue Lindsey J Suriano Kaitlyn E Takach Arielle M Vasquez Ximena Velez Elizabeth J Villafuerte Laura T Vives Victoria R Zellmer Jeanette Hauke Charles R Hauser Karolyn Barker Laurie Cannon Perouza Parsamian Samantha Parsons Zachariah Wichman Christopher W Bazinet Diana E Johnson Abubakarr Bangura Jordan A Black Victoria Chevee Sarah A Einsteen Sarah K Hilton Max Kollmer Rahul Nadendla Joyce Stamm Antoinette E Fafara-Thompson Amber M Gygi Emmy E Ogawa Matt Van Camp Zuzana Kocsisova Judith L Leatherman Cassie M Modahl Michael R Rubin Susana S Apiz-Saab Suzette M Arias-Mejias Carlos F Carrion-Ortiz Patricia N Claudio-Vazquez Debbie M Espada-Green Marium Feliciano-Camacho Karina M Gonzalez-Bonilla Mariela Taboas-Arroyo Dorianmarie Vargas-Franco Raquel Montañez-Gonzalez Joseph Perez-Otero Myrielis Rivera-Burgos Francisco J Rivera-Rosario Heather L Eisler Jackie Alexander Samatha K Begley Deana Gabbard Robert J Allen Wint Yan Aung William D Barshop Amanda Boozalis Vanessa P Chu Jeremy S Davis Ryan N Duggal Robert Franklin Katherine Gavinski Heran Gebreyesus Henry Z Gong Rachel A Greenstein Averill D Guo Casey Hanson Kaitlin E Homa Simon C Hsu Yi Huang Lucy Huo Sarah Jacobs Sasha Jia Kyle L Jung Sarah Wai-Chee Kong Matthew R Kroll Brandon M Lee Paul F Lee Kevin M Levine Amy S Li Chengyu Liu Max Mian Liu Adam P Lousararian Peter B Lowery Allyson P Mallya Joseph E Marcus Patrick C Ng Hien P Nguyen Ruchik Patel Hashini Precht Suchita Rastogi Jonathan M Sarezky Adam Schefkind Michael B Schultz Delia Shen Tara Skorupa Nicholas C Spies Gabriel Stancu Hiu Man Vivian Tsang Alice L Turski Rohit Venkat Leah E Waldman Kaidi Wang Tracy Wang Jeffrey W Wei Dennis Y Wu David D Xiong Jack Yu Karen Zhou Gerard P McNeil Robert W Fernandez Patrick Gomez Menzies Tingting Gu Jeremy Buhler Elaine R Mardis Sarah C R Elgin

G3 (Bethesda) 2017 08 7;7(8):2439-2460. Epub 2017 Aug 7.

Department of Biology, Washington University in St. Louis, St. Louis, MO 63130.

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http://g3journal.org/lookup/doi/10.1534/g3.117.040907
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http://dx.doi.org/10.1534/g3.117.040907DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5555453PMC
August 2017

The Dynamic Epigenetic Landscape of the Retina During Development, Reprogramming, and Tumorigenesis.

Neuron 2017 May;94(3):550-568.e10

Department of Developmental Neurobiology, St. Jude Children's Research Hospital, Memphis, Tennessee 38105, USA; Department of Ophthalmology, University of Tennessee Health Science Center, Memphis, Tennessee 38163, USA; Howard Hughes Medical Institute, Chevy Chase, Maryland 20815, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2017.04.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5508517PMC
May 2017

Melorheostosis: Exome sequencing of an associated dermatosis implicates postzygotic mosaicism of mutated KRAS.

Bone 2017 Aug 21;101:145-155. Epub 2017 Apr 21.

McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63110, USA; Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA; Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO 63110, USA; Division of Genomics and Bioinformatics, Department of Internal Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bone.2017.04.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5518630PMC
August 2017

Neoantigen Discovery in Human Cancers.

Authors:
Elaine R Mardis

Cancer J 2017 Mar/Apr;23(2):97-101

From the Institute for Genomic Medicine, Nationwide Children's Hospital, and The Ohio State University College of Medicine, Columbus, OH.

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http://dx.doi.org/10.1097/PPO.0000000000000248DOI Listing
May 2017

Cancer Immunogenomics: Computational Neoantigen Identification and Vaccine Design.

Cold Spring Harb Symp Quant Biol 2016 7;81:105-111. Epub 2017 Apr 7.

Nationwide Children's Hospital, Institute for Genomic Medicine, Columbus, Ohio 43205.

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http://dx.doi.org/10.1101/sqb.2016.81.030726DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5702270PMC
February 2018

Applications of Immunogenomics to Cancer.

Cell 2017 02;168(4):600-612

Institute for Genomic Medicine, Nationwide Children's Hospital, and The Ohio State University College of Medicine, 575 Children's Crossroad, Columbus OH 43205, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cell.2017.01.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5972371PMC
February 2017

Temporally Distinct PD-L1 Expression by Tumor and Host Cells Contributes to Immune Escape.

Cancer Immunol Res 2017 02 10;5(2):106-117. Epub 2017 Jan 10.

Department of Pathology and Immunology, Washington University School of Medicine, St Louis, Missouri.

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http://dx.doi.org/10.1158/2326-6066.CIR-16-0391DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5510474PMC
February 2017

DNA sequencing technologies: 2006-2016.

Authors:
Elaine R Mardis

Nat Protoc 2017 Feb 5;12(2):213-218. Epub 2017 Jan 5.

McDonnell Genome Institute, Washington University, St. Louis, Missouri, USA.

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http://dx.doi.org/10.1038/nprot.2016.182DOI Listing
February 2017

Cancer Genomics: Large-Scale Projects Translate into Therapeutic Advances.

PLoS Med 2016 Dec 27;13(12):e1002209. Epub 2016 Dec 27.

Department of Pathology and Human Oncology & Pathogenesis Program, Memorial Sloan Kettering Cancer Center, New York, New York, United States of America.

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http://dx.doi.org/10.1371/journal.pmed.1002209DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5189932PMC
December 2016

Visualizing tumor evolution with the fishplot package for R.

BMC Genomics 2016 11 7;17(1):880. Epub 2016 Nov 7.

McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, 63108, USA.

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http://dx.doi.org/10.1186/s12864-016-3195-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5100182PMC
November 2016

Rare Variation in TET2 Is Associated with Clinically Relevant Prostate Carcinoma in African Americans.

Cancer Epidemiol Biomarkers Prev 2016 11 2;25(11):1456-1463. Epub 2016 Aug 2.

Division of Urology, Department of Surgery, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts.

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http://dx.doi.org/10.1158/1055-9965.EPI-16-0373DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5093030PMC
November 2016

Truncating Prolactin Receptor Mutations Promote Tumor Growth in Murine Estrogen Receptor-Alpha Mammary Carcinomas.

Cell Rep 2016 09;17(1):249-260

McDonnell Genome Institute, Washington University School of Medicine, 4444 Forest Park Ave., St. Louis, MO 63108, USA; Department of Medicine, Washington University School of Medicine, 660 S Euclid Ave., St. Louis, MO 63110, USA; Siteman Cancer Center, Washington University School of Medicine, 4921 Parkview Pl., St. Louis, MO 63110, USA; Department of Genetics, Washington University School of Medicine, 660 S Euclid Ave., St. Louis, MO 63110, USA. Electronic address:

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http://dx.doi.org/10.1016/j.celrep.2016.08.076DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5557050PMC
September 2016

Genomic profiling of murine mammary tumors identifies potential personalized drug targets for p53-deficient mammary cancers.

Dis Model Mech 2016 07 5;9(7):749-57. Epub 2016 May 5.

Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC 27599, USA Lineberger Comprehensive Cancer Center, University of North Carolina, Chapel Hill, NC 27599, USA Department of Genetics, University of North Carolina, Chapel Hill, NC 27599, USA

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http://dx.doi.org/10.1242/dmm.025239DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4958311PMC
July 2016

California Dreamin': the Future of Genomic Medicine.

Authors:
Elaine R Mardis

Cold Spring Harb Mol Case Stud 2016 Mar;2(2):a000976

Washington University School of Medicine, St. Louis, Missouri 63108, USA.

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http://dx.doi.org/10.1101/mcs.a000976DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4849850PMC
March 2016

From "N of 1" to N of more.

Cold Spring Harb Mol Case Stud 2015 Oct;1(1):a000521

Washington University School of Medicine, St. Louis, Missouri 63108, USA.

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http://dx.doi.org/10.1101/mcs.a000521DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4850895PMC
October 2015

The challenges of big data.

Authors:
Elaine R Mardis

Dis Model Mech 2016 05;9(5):483-5

McDonnell Genome Institute at Washington University School of Medicine, St Louis, MO 63108, USA

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http://dx.doi.org/10.1242/dmm.025585DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4892667PMC
May 2016

Clinical and Genetic Risk Factors for Acute Pancreatitis in Patients With Acute Lymphoblastic Leukemia.

J Clin Oncol 2016 06 25;34(18):2133-40. Epub 2016 Apr 25.

Chengcheng Liu, Wenjian Yang, Cheng Cheng, Deqing Pei, Colton Smith, Sima Jeha, Ching-Hon Pui, William E. Evans, and Mary V. Relling, St Jude Children's Research Hospital; Scott C. Howard, University of Memphis, Memphis, TN; Meenakshi Devidas, University of Florida, Gainesville, FL; William L. Carroll, New York University Langone Medical Center, New York, NY; Elizabeth A. Raetz, University of Utah, Salt Lake City, UT; W. Paul Bowman, Cook Children's Hospital, Ft Worth; Naomi J. Winick, University of Texas Southwestern Medical Center, Dallas, TX; Eric C. Larsen, Maine Children's Cancer Program, Scarborough, ME; Kelly W. Maloney, University of Colorado Denver, Aurora, CO; Paul L. Martin, Duke University, Durham, NC; Leonard A. Mattano Jr, HARP Pharma Consulting, Mystic, CT; Elaine R. Mardis and Robert S. Fulton, The McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO; Deepa Bhojwani, Children's Hospital of Los Angeles, Los Angeles; Mignon L. Loh, University of California San Francisco Medical Center-Parnassus, San Francisco, CA; and Stephen P. Hunger, Children's Hospital of Philadelphia, Philadelphia, PA.

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http://dx.doi.org/10.1200/JCO.2015.64.5812DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4962704PMC
June 2016

A Vaccine for Cancer?

Sci Am 2016 Apr;314(4):46

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http://dx.doi.org/10.1038/scientificamerican0416-46DOI Listing
April 2016

pVAC-Seq: A genome-guided in silico approach to identifying tumor neoantigens.

Genome Med 2016 Jan 29;8(1):11. Epub 2016 Jan 29.

McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO, USA.

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http://dx.doi.org/10.1186/s13073-016-0264-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4733280PMC
January 2016

PGRNseq: a targeted capture sequencing panel for pharmacogenetic research and implementation.

Pharmacogenet Genomics 2016 Apr;26(4):161-168

aDepartment of Genome Sciences, University of Washington, Seattle, Washington bThe Baylor College of Medicine Human Genome Sequencing Center, Houston, Texas cThe Genome Institute at Washington University, St Louis, Missouri, USA.

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http://dx.doi.org/10.1097/FPC.0000000000000202DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4935646PMC
April 2016

Optimizing cancer genome sequencing and analysis.

Cell Syst 2015 Sep;1(3):210-223

The McDonnell Genome Institute, Washington University, St. Louis, MO, USA, 63108 ; Department of Genetics, Washington University, St. Louis, MO, USA, 63108 ; Siteman Cancer Center, Washington University, St. Louis, MO, USA, 63108 ; Department of Medicine, Washington University, St. Louis, MO, USA, 63108.

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http://dx.doi.org/10.1016/j.cels.2015.08.015DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4669575PMC
September 2015

Germline Mutations in Predisposition Genes in Pediatric Cancer.

N Engl J Med 2015 Dec 18;373(24):2336-2346. Epub 2015 Nov 18.

Departments of Computational Biology (J.Z., G.W., M.N.E., D.H., X.M., X.Z., M.R.W., X.C., M.R., A.P., J.B.B., S.W.), Oncology (M.F.W., T.A.G., R.B.M., S.H.-D., R.N., E.Q., A.G., A.S.P., C.-H.P., K.E.N.), and Pathology (T.A.G., M.R.W., S.A.S., D.W.E., C.-H.P., J.R.D.) and the Pediatric Cancer Genome Project (J.Z., M.F.W., G.W., M.N.E., T.A.G., J.E., X.M., D.A.Y., B.V., X.C., R.B.M., S.H.-D., R.N., E.Q., S.A.S., M.R., A.P., J.B.B., S.W., M.S.W., A.G., D.W.E., A.S.P., C.-H.P., K.E.N., J.R.D.), St. Jude Children's Research Hospital, Memphis, TN; and the Department of Genetics and McDonnell Genome Institute, Washington University School of Medicine in St. Louis, St. Louis (L.D., E.R.M., R.K.W.).

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http://dx.doi.org/10.1056/NEJMoa1508054DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4734119PMC
December 2015

DGIdb 2.0: mining clinically relevant drug-gene interactions.

Nucleic Acids Res 2016 Jan 3;44(D1):D1036-44. Epub 2015 Nov 3.

McDonnell Genome Institute, Washington University School of Medicine, St. Louis, MO 63108, USA Siteman Cancer Center, Washington University School of Medicine, St. Louis, MO 63110, USA Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110, USA Department of Genetics, Washington University School of Medicine, St. Louis, MO 63110, USA

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http://dx.doi.org/10.1093/nar/gkv1165DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4702839PMC
January 2016

Caenorhabditis elegans glp-4 Encodes a Valyl Aminoacyl tRNA Synthetase.

G3 (Bethesda) 2015 Oct 13;5(12):2719-28. Epub 2015 Oct 13.

Department of Genetics, Washington University School of Medicine, St Louis, Missouri 63110

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http://dx.doi.org/10.1534/g3.115.021899DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4683644PMC
October 2015

Where Next for Genetics and Genomics?

PLoS Biol 2015 Jul 30;13(7):e1002216. Epub 2015 Jul 30.

The Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford, United Kingdom.

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http://dx.doi.org/10.1371/journal.pbio.1002216DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4520474PMC
July 2015

Association of Somatic Mutations of ADAMTS Genes With Chemotherapy Sensitivity and Survival in High-Grade Serous Ovarian Carcinoma.

JAMA Oncol 2015 Jul;1(4):486-94

Department of Pathology, University of Texas MD Anderson Cancer Center, Houston2Institute for Systems Biology/MD Anderson Cancer Center Genome Data Analysis Center, The Cancer Genome Atlas, Bethesda, Maryland.

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http://oncology.jamanetwork.com/article.aspx?doi=10.1001/jam
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http://dx.doi.org/10.1001/jamaoncol.2015.1432DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4608536PMC
July 2015

Genome Modeling System: A Knowledge Management Platform for Genomics.

PLoS Comput Biol 2015 Jul 9;11(7):e1004274. Epub 2015 Jul 9.

The Genome Institute, Washington University in St. Louis, St. Louis, Missouri, United States of America; Department of Genetics, Washington University School of Medicine, St. Louis, Missouri, United States of America; Department of Medicine, Washington University School of Medicine, St. Louis, Missouri, United States of America; Siteman Cancer Center, Washington University School of Medicine, St. Louis, Missouri, United States of America; Department of Molecular Microbiology, Washington University School of Medicine, St. Louis, Missouri, United States of America.

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http://dx.doi.org/10.1371/journal.pcbi.1004274DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4497734PMC
July 2015

TYK2 protein-coding variants protect against rheumatoid arthritis and autoimmunity, with no evidence of major pleiotropic effects on non-autoimmune complex traits.

PLoS One 2015 7;10(4):e0122271. Epub 2015 Apr 7.

Division of Rheumatology, Immunology, and Allergy, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America; Division of Genetics, Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts, United States of America; Program in Medical and Population Genetics, Broad Institute, Cambridge, Massachusetts, United States of America.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0122271PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4388675PMC
March 2016

Exome sequencing of case-unaffected-parents trios reveals recessive and de novo genetic variants in sporadic ALS.

Sci Rep 2015 Mar 16;5:9124. Epub 2015 Mar 16.

The Stacey MND Laboratory, Department of Pathology, The University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1038/srep09124DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4360641PMC
March 2015