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• 2020

  Genetic inactivation of the translin/trax microRNA-degrading enzyme phenocopies the robust adiposity induced by Translin (Tsn) deletion

  Fu, X., Shah, A. P., Li, Z., Li, M., Tamashiro, K. L. & Baraban, J. M., Oct 2020, In: Molecular Metabolism. 40, 101013.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Adiposity
  • MicroRNAs
  • Enzymes
  • Metabolome
  • Mutation

• Genetic incorporation of non-canonical amino acid photocrosslinkers in Neisseria meningitidis: New method provides insights into the physiological function of the function-unknown NMB1345 protein

  Takahashi, H., Dohmae, N., Kim, K. S., Shimuta, K., Ohnishi, M., Yokoyama, S. & Yanagisawa, T., Aug 2020, In: PloS one. 15, 8 August 2020, e0237883.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Neisseria meningitidis
  • Amino Acids
  • amino acids
  • Proteins
  • proteins

• Genetic loci associated with prevalent and incident myocardial infarction and coronary heart disease in the Cohorts for Heart and Aging Research in Genomic Epidemiology (CHARGE) Consortium

  Hahn, J., Fu, Y. P., Brown, M. R., Bis, J. C., de Vries, P. S., Feitosa, M. F., Yanek, L. R., Weiss, S., Giulianini, F., Smith, A. V., Guo, X., Bartz, T. M., Becker, D. M., Becker, L. C., Boerwinkle, E., Brody, J. A., Chen, Y. D. I., Franco, O. H., Grove, M., Harris, T. B. & 25 others, Hofman, A., Hwang, S. J., Kral, B. G., Launer, L. J., Markus, M. R. P., Rice, K. M., Rich, S. S., Ridker, P. M., Rivadeneira, F., Rotter, J. I., Sotoodehnia, N., Taylor, K. D., Uitterlinden, A. G., Völker, U., Völzke, H., Yao, J., Chasman, D. I., Dörr, M., Gudnason, V., Mathias, R. A., Post, W., Psaty, B. M., Dehghan, A., O’Donnell, C. J. & Morrison, A. C., Nov 2020, In: PloS one. 15, 11 November, e0230035.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Epidemiology
  • myocardial infarction
  • coronary disease
  • Genetic Loci
  • epidemiology

• Genetic modifiers of cystic fibrosis-related diabetes have extensive overlap with type 2 diabetes and related traits

  Aksit, M. A., Pace, R. G., Vecchio-Pagán, B., Ling, H., Rommens, J. M., Boelle, P. Y., Guillot, L., Raraigh, K. S., Pugh, E., Zhang, P., Strug, L. J., Drumm, M. L., Knowles, M. R., Cutting, G. R., Corvol, H. & Blackman, S. M., May 1 2020, In: Journal of Clinical Endocrinology and Metabolism. 105, 5, dgz102.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Medical problems
  • Cystic Fibrosis
  • Type 2 Diabetes Mellitus
  • 3-hydroxyphenyltrimethylammonium
  • Insulin Resistance

• Genetic modifiers of risk and age at onset in GBA associated Parkinson's disease and Lewy body dementia

  Blauwendraat, C., Reed, X., Krohn, L., Heilbron, K., Bandres-Ciga, S., Tan, M., Gibbs, J. R., Hernandez, D. G., Kumaran, R., Langston, R., Bonet-Ponce, L., Alcalay, R. N., Hassin-Baer, S., Greenbaum, L., Iwaki, H., Leonard, H. L., Grenn, F. P., Ruskey, J. A., Sabir, M., Ahmed, S. & 42 others, Makarious, M. B., Pihlstrøm, L., Toft, M., Van Hilten, J. J., Marinus, J., Schulte, C., Brockmann, K., Sharma, M., Siitonen, A., Majamaa, K., Eerola-Rautio, J., Tienari, P. J., Pantelyat, A., Hillis, A. E., Dawson, T. M., Rosenthal, L. S., Albert, M. S., Resnick, S. M., Ferrucci, L., Morris, C. M., Pletnikova, O., Troncoso, J., Grosset, D., Lesage, S., Corvol, J. C., Brice, A., Noyce, A. J., Masliah, E., Wood, N., Hardy, J., Shulman, L. M., Jankovic, J., Shulman, J. M., Heutink, P., Gasser, T., Cannon, P., Scholz, S. W., Morris, H., Cookson, M. R., Nalls, M. A., Gan-Or, Z. & Singleton, A. B., Jan 1 2020, In: Brain. 143, 1, p. 234-248 15 p.

  Research output: Contribution to journal › Article › peer-review

  • Lewy Body Disease
  • Age of Onset
  • Parkinson Disease
  • Cathepsin B
  • Genome-Wide Association Study

• Genetic mutation profile of Chinese HER2-positive breast cancers and genetic predictors of responses to Neoadjuvant anti-HER2 therapy

  Li, K., Liao, N., Chen, B., Zhang, G., Wang, Y., Guo, L., Wei, G., Jia, M., Wen, L., Ren, C., Cao, L., Mok, H., Li, C., Lin, J., Chen, X., Zhang, Z., Hou, T., Li, M., Liu, J., Balch, C. M. & 1 others, Liao, N., Sep 1 2020, In: Breast Cancer Research and Treatment. 183, 2, p. 321-332 12 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Genetic Profile
  • Breast Neoplasms
  • Mutation
  • Therapeutics
  • Mutation Rate

• Genetic mutations associated with susceptibility to perioperative complications in a longitudinal biorepository with integrated genomic and electronic health records

  Douville, N. J., Kheterpal, S., Engoren, M., Mathis, M., Mashour, G. A., Hornsby, W. E., Willer, C. J. & Douville, C. B., Dec 2020, In: British journal of anaesthesia. 125, 6, p. 986-994 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Electronic Health Records
  • Mutation
  • Butyrylcholinesterase deficiency
  • Genetic Predisposition to Disease
  • Malignant Hyperthermia

• Genetic Predisposition to Myelodysplastic Syndrome in Clinical Practice

  Schratz, K. E. & DeZern, A. E., Apr 2020, In: Hematology/Oncology Clinics of North America. 34, 2, p. 333-356 24 p.

  Research output: Contribution to journal › Review article › peer-review

  • Myelodysplastic Syndromes
  • Genetic Predisposition to Disease
  • Young Adult
  • Bone Marrow
  • Child

• Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases

  on behalf of the ARTFL/LEFFTDS consortium, Jan 1 2020, In: Alzheimer's and Dementia. 16, 1, p. 118-130 13 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Frontotemporal Dementia
  • Genetic Testing
  • Chromosomes, Human, Pair 9
  • Dementia
  • Open Reading Frames

• Genetic Spectrum and Distinct Evolution Patterns of SARS-CoV-2

  Liu, S., Shen, J., Fang, S., Li, K., Liu, J., Yang, L., Hu, C. D. & Wan, J., Sep 25 2020, In: Frontiers in Microbiology. 11, 593548.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • SARS Virus
  • Nucleotides
  • Coronavirus
  • Genome
  • Chiroptera

• Genetic Susceptibility for Atrial Fibrillation in Patients Undergoing Atrial Fibrillation Ablation

  Shoemaker, M. B., Husser, D., Roselli, C., Al Jazairi, M., Chrispin, J., Kühne, M., Neumann, B., Knight, S., Sun, H., Mohanty, S., Shaffer, C., Thériault, S., Rinke, L. L., Siland, J. E., Crawford, D. M., Ueberham, L., Zardkoohi, O., Büttner, P., Geelhoed, B., Blum, S. & 29 others, Aeschbacher, S., Smith, J. D., Van Wagoner, D. R., Freudling, R., Müller-Nurasyid, M., Montgomery, J., Yoneda, Z., Wells, Q., Issa, T., Weeke, P., Jacobs, V., Van Gelder, I. C., Hindricks, G., Barnard, J., Calkins, H., Darbar, D., Michaud, G., Kaä¨b, S., Ellinor, P., Natale, A., Chung, M., Nazarian, S., Cutler, M. J., Sinner, M. F., Conen, D., Rienstra, M., Bollmann, A., Roden, D. M. & Lubitz, S., 2020, (Accepted/In press) In: Circulation: Arrhythmia and Electrophysiology. e007676.

  Research output: Contribution to journal › Article › peer-review

  • Genetic Predisposition to Disease
  • Atrial Fibrillation
  • Recurrence
  • Cardiac Arrhythmias
  • Stroke Volume

• Genetic testing preferences and intentions in patients with clinically diagnosed familial hypercholesterolemia

  Wand, H., Sturm, A. C., Erby, L., Kindt, I. & Klein, W. M. P., Dec 2020, In: Journal of Genetic Counseling. 29, 6, p. 919-927 9 p.

  Research output: Contribution to journal › Article › peer-review

  • Hyperlipoproteinemia Type II
  • Genetic Testing
  • Intention
  • Psychology
  • Medical History Taking

• Genetic variants in RET, ARHGEF3 and CTNNAL1, and relevant interaction networks, contribute to the risk of hirschsprung disease

  Wang, Y., Jiang, Q., Cai, H., Xu, Z., Wu, W., Gu, B., Li, L. & Cai, W., Mar 15 2020, In: Aging. 12, 5, p. 4379-4393 15 p.

  Research output: Contribution to journal › Article › peer-review

  • Hirschsprung Disease
  • Genes
  • Intestinal Pseudo-Obstruction
  • Disease Susceptibility
  • Haplotypes

• Gene Variants That Affect Levels of Circulating Tumor Markers Increase Identification of Patients With Pancreatic Cancer

  Abe, T., Koi, C., Kohi, S., Song, K. B., Tamura, K., Macgregor-Das, A., Kitaoka, N., Chuidian, M., Ford, M., Dbouk, M., Borges, M., He, J., Burkhart, R., Wolfgang, C. L., Klein, A. P., Eshleman, J. R., Hruban, R. H., Canto, M. I. & Goggins, M., May 2020, In: Clinical Gastroenterology and Hepatology. 18, 5, p. 1161-1169.e5

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Tumor Biomarkers
  • Pancreatic Neoplasms
  • Single Nucleotide Polymorphism
  • Antigens
  • Carbohydrates

• Genome, environment, microbiome and metabolome in autism (GEMMA) study design: Biomarkers identification for precision treatment and primary prevention of autism spectrum disorders by an integrated multi-omics systems biology approach

  Troisi, J., Autio, R., Beopoulos, T., Bravaccio, C., Carraturo, F., Corrivetti, G., Cunningham, S., Devane, S., Fallin, D., Fetissov, S., Gea, M., Giorgi, A., Iris, F., Joshi, L., Kadzielski, S., Kraneveld, A., Kumar, H., Ladd-Acosta, C., Leader, G., Mannion, A. & 14 others, Maximin, E., Mezzelani, A., Milanesi, L., Naudon, L., Peralta Marzal, L. N., Pardo, P. P., Prince, N. Z., Rabot, S., Roeselers, G., Roos, C., Roussin, L., Scala, G., Tuccinardi, F. P. & Fasano, A., Oct 2020, In: Brain Sciences. 10, 10, p. 1-16 16 p., 743.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Systems Biology
  • Metabolome
  • Autism Spectrum Disorder
  • Primary Prevention
  • Microbiota

• Genome assembly and characterization of a complex zfBED-NLR gene-containing disease resistance locus in Carolina Gold Select rice with Nanopore sequencing

  Read, A. C., Moscou, M. J., Zimin, A. V., Pertea, G., Meyer, R. S., Purugganan, M. D., Leach, J. E., Triplett, L. R., Salzberg, S. L. & Bogdanove, A. J., 2020, In: PLoS genetics. 16, 1, e1008571.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • disease resistance
  • nanopores
  • Nanopores
  • Disease Resistance
  • genome assembly

• Genome-Scale Analysis Identifies Novel Transcript-Variants in Esophageal Adenocarcinoma

  Purkayastha, B. P. D., Chan, E. R., Ravillah, D., Ravi, L., Gupta, R., Canto, M. I., Wang, J. S., Shaheen, N. J., Willis, J. E., Chak, A., Varadan, V. & Guda, K., 2020, In: CMGH. 10, 3, p. 652-654.e17

  Research output: Contribution to journal › Article › peer-review

  Open Access

• Genome sequences of chikungunya virus isolates from Bolivia

  França, C. M. B., Loayza, R., Roca, Y., Montaño Arias, A. M., Tinajeros, F., Loaiza, J. R., Takyar, A., Gilman, R. H. & Miller, M. J., Apr 16 2020, In: Microbiology Resource Announcements. 9, 16, e00230.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Bolivia
  • Chikungunya virus
  • Disease Outbreaks
  • Genome

• Genome-wide analysis of DNA methylation in gastrointestinal cancer

  Sugimoto, K., Momose, H., Ito, T., Orita, H., Sato, K., Sakamoto, K. & Brock, M. V., Sep 2020, In: Journal of Visualized Experiments. 2020, 163, p. 1-11 11 p., e61355.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • DNA Methylation
  • Gastrointestinal Neoplasms
  • Genes
  • Genome
  • Epigenomics

• Genome-wide association and multi-omic analyses reveal ACTN2 as a gene linked to heart failure

  23andMe Research Team, Dec 1 2020, In: Nature communications. 11, 1, 1122.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • genome
  • genes
  • Genes
  • Heart Failure
  • Genome

• Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error

  Consortium for Refractive Error and Myopia (CREAM) & UK Biobank Eye and Vision Consortium, Dec 1 2020, In: Communications biology. 3, 1, 133.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Genetic Loci
  • Refractive Errors
  • meta-analysis
  • Genome-Wide Association Study
  • Elongation

• Genome-wide association studies of CKD and related traits

  Tin, A. & Köttgen, A., Nov 1 2020, In: Clinical Journal of the American Society of Nephrology. 15, 11, p. 1643-1656 14 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Genome-Wide Association Study
  • Genetic Loci
  • Kidney
  • Multifactorial Inheritance
  • Genetic Association Studies

• Genome-wide association study identifies 32 novel breast cancer susceptibility loci from overall and subtype-specific analyses

  kConFab Investigators, ABCTB Investigators, EMBRACE Study & GEMO Study Collaborators, Jun 1 2020, In: Nature genetics. 52, 6, p. 572-581 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Genome-Wide Association Study
  • Breast Neoplasms
  • Neoplasms
  • human ERBB2 protein
  • Progesterone Receptors

• Genome-wide association study identifies a novel maternal gene × stress interaction associated with spontaneous preterm birth

  Hong, X., Surkan, P., Zhang, B., Keiser, A., Ji, Y., Ji, H., Burd, I., Bustamante-Helfrich, B., Ogunwole, S., Tang, W. Y., Liu, L., Pearson, C., Cerda, S., Zuckerman, B., Hao, L. & Wang, X., 2020, (Accepted/In press) In: Pediatric research.

  Research output: Contribution to journal › Article › peer-review

  • Premature Birth
  • Genome-Wide Association Study
  • Mothers
  • Class 2 Receptor-Like Protein Tyrosine Phosphatases
  • African Americans

• Genome-Wide Association Study Meta-Analysis of Stroke in 22 000 Individuals of African Descent Identifies Novel Associations with Stroke

  Keene, K. L., Hyacinth, H. I., Bis, J. C., Kittner, S. J., Mitchell, B. D., Cheng, Y. C., Pare, G., Chong, M., O'Donnell, M., Meschia, J. F., Chen, W. M., Sale, M. M., Rich, S. S., Nalls, M. A., Zonderman, A. B., Evans, M. K., Wilson, J. G., Correa, A., Markus, H. S., Traylor, M. & 27 others, Lewis, C. M., Carty, C. L., Reiner, A., Haessler, J., Langefeld, C. D., Gottesman, R., Mosley, T. H., Woo, D., Yaffe, K., Liu, Y. M., Longstreth, W. T., Psaty, B. M., Kooperberg, C., Lange, L. A., Sacco, R., Rundek, T., Lee, J. M., Cruchaga, C., Furie, K. L., Arnett, D. K., Benavente, O. R., Grewal, R. P., Peddareddygari, L. R., Dichgans, M., Malik, R., Worrall, B. B. & Fornage, M., Aug 1 2020, In: Stroke. 51, 8, p. 2454-2463 10 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Genome-Wide Association Study
  • Meta-Analysis
  • Stroke
  • Single Nucleotide Polymorphism
  • Population

• Genome-wide association study of cryptosporidiosis in infants implicates PRKCA

  Wojcik, G. L., Korpe, P., Marie, C., Mentzer, A. J., Carstensen, T., Mychaleckyj, J., Kirkpatrick, B. D., Rich, S. S., Concannon, P., Faruque, A. S. G., Haque, R., Petri, W. A. & Duggal, P., Jan 1 2020, In: mBio. 11, 1, e03343-19.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Cryptosporidiosis
  • Protein Kinase C-alpha
  • Genome-Wide Association Study
  • Diarrhea
  • Child

• Genome-wide association study of rate of cognitive decline in Alzheimer's disease patients identifies novel genes and pathways

  the Alzheimer's Disease Genetics Consortium, Aug 1 2020, In: Alzheimer's and Dementia. 16, 8, p. 1134-1145 12 p.

  Research output: Contribution to journal › Article › peer-review

  • Genome-Wide Association Study
  • Cognitive Dysfunction
  • Alzheimer Disease
  • Chromosomes, Human, Pair 15
  • Genes

• Genome-wide Cas9 binding specificity in Saccharomyces cerevisiae

  Waldrip, Z. J., Jenjaroenpun, P., DeYoung, O., Nookaew, I., Taverna, S. D., Raney, K. D. & Tackett, A. J., 2020, In: PeerJ. 8, 9442.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Clustered Regularly Interspaced Short Palindromic Repeats
  • Yeast
  • Saccharomyces cerevisiae
  • Genes
  • Guide RNA

• Genome-wide DNA methylation differences in nucleus accumbens of smokers vs. nonsmokers

  Markunas, C. A., Semick, S. A., Quach, B. C., Tao, R., Deep-Soboslay, A., Carnes, M. U., Bierut, L. J., Hyde, T. M., Kleinman, J. E., Johnson, E. O., Jaffe, A. E. & Hancock, D. B., 2020, (Accepted/In press) In: Neuropsychopharmacology.

  Research output: Contribution to journal › Article › peer-review

  • Nucleus Accumbens
  • Non-Smokers
  • DNA Methylation
  • Smokers
  • Smoking

• Genome-wide DNA methylation meta-analysis in the brains of suicide completers

  Policicchio, S., Washer, S., Viana, J., Iatrou, A., Burrage, J., Hannon, E., Turecki, G., Kaminsky, Z., Mill, J., Dempster, E. L. & Murphy, T. M., Dec 1 2020, In: Translational psychiatry. 10, 1, 69.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • DNA Methylation
  • Suicide
  • Meta-Analysis
  • Genome
  • Brain

• Genome-wide Enrichment of De Novo Coding Mutations in Orofacial Cleft Trios

  Bishop, M. R., Diaz Perez, K. K., Sun, M., Ho, S., Chopra, P., Mukhopadhyay, N., Hetmanski, J. B., Taub, M. A., Moreno-Uribe, L. M., Valencia-Ramirez, L. C., Restrepo Muñeton, C. P., Wehby, G., Hecht, J. T., Deleyiannis, F., Weinberg, S. M., Wu-Chou, Y. H., Chen, P. K., Brand, H., Epstein, M. P., Ruczinski, I. & 7 others, Murray, J. C., Beaty, T. H., Feingold, E., Lipinski, R. J., Cutler, D. J., Marazita, M. L. & Leslie, E. J., Jul 2 2020, In: American journal of human genetics. 107, 1, p. 124-136 13 p.

  Research output: Contribution to journal › Article › peer-review

  • Genome
  • Mutation
  • Genes
  • Whole Genome Sequencing
  • Homeobox Genes

• Genome-wide gene-environment analyses of major depressive disorder and reported lifetime traumatic experiences in UK Biobank

  Major Depressive Disorder Working Group of the Psychiatric Genomics Consortium, Jul 1 2020, In: Molecular psychiatry. 25, 7, p. 1430-1446 17 p.

  Research output: Contribution to journal › Article › peer-review

  • Major Depressive Disorder
  • Genome
  • Wounds and Injuries
  • Genes
  • Depression

• Genome-Wide Meta-Analyses of FTND and TTFC Phenotypes

  Chen, J., Loukola, A., Gillespie, N. A., Peterson, R., Jia, P., Riley, B., Maes, H., Dick, D. M., Kendler, K. S., Damaj, M. I., Miles, M. F., Zhao, Z., Li, M. D., Vink, J. M., Minica, C. C., Willemsen, G., Boomsma, D. I., Qaiser, B., Madden, P. A. F., Korhonen, T. & 26 others, Jousilahti, P., Hällfors, J., Gelernter, J., Kranzler, H. R., Sherva, R., Farrer, L., Maher, B., Vanyukov, M., Taylor, M., Ware, J. J., Munafò, M. R., Lutz, S. M., Hokanson, J. E., Gu, F., Landi, M. T., Caporaso, N. E., Hancock, D. B., Gaddis, N. C., Baker, T. B., Bierut, L. J., Johnson, E. O., Chenoweth, M., Lerman, C., Tyndale, R., Kaprio, J. & Chen, X., May 26 2020, In: Nicotine & tobacco research : official journal of the Society for Research on Nicotine and Tobacco. 22, 6, p. 900-909 10 p.

  Research output: Contribution to journal › Article › peer-review

  • Tobacco Use Disorder
  • Meta-Analysis
  • Genome
  • Phenotype
  • Cigarette Smoking

• Genome-wide Modeling of Polygenic Risk Score in Colorectal Cancer Risk

  Thomas, M., Sakoda, L. C., Hoffmeister, M., Rosenthal, E. A., Lee, J. K., van Duijnhoven, F. J. B., Platz, E. A., Wu, A. H., Dampier, C. H., de la Chapelle, A., Wolk, A., Joshi, A. D., Burnett-Hartman, A., Gsur, A., Lindblom, A., Castells, A., Win, A. K., Namjou, B., Van Guelpen, B., Tangen, C. M. & 77 others, He, Q., Li, C. I., Schafmayer, C., Joshu, C. E., Ulrich, C. M., Bishop, D. T., Buchanan, D. D., Schaid, D., Drew, D. A., Muller, D. C., Duggan, D., Crosslin, D. R., Albanes, D., Giovannucci, E. L., Larson, E., Qu, F., Mentch, F., Giles, G. G., Hakonarson, H., Hampel, H., Stanaway, I. B., Figueiredo, J. C., Huyghe, J. R., Minnier, J., Chang-Claude, J., Hampe, J., Harley, J. B., Visvanathan, K., Curtis, K. R., Offit, K., Li, L., Le Marchand, L., Vodickova, L., Gunter, M. J., Jenkins, M. A., Slattery, M. L., Lemire, M., Woods, M. O., Song, M., Murphy, N., Lindor, N. M., Dikilitas, O., Pharoah, P. D. P., Campbell, P. T., Newcomb, P. A., Milne, R. L., MacInnis, R. J., Castellví-Bel, S., Ogino, S., Berndt, S. I., Bézieau, S., Thibodeau, S. N., Gallinger, S. J., Zaidi, S. H., Harrison, T. A., Keku, T. O., Hudson, T. J., Vymetalkova, V., Moreno, V., Martín, V., Arndt, V., Wei, W. Q., Chung, W., Su, Y. R., Hayes, R. B., White, E., Vodicka, P., Casey, G., Gruber, S. B., Schoen, R. E., Chan, A. T., Potter, J. D., Brenner, H., Jarvik, G. P., Corley, D. A., Peters, U. & Hsu, L., Sep 3 2020, In: American journal of human genetics. 107, 3, p. 432-444 13 p.

  Research output: Contribution to journal › Article › peer-review

  • Colorectal Neoplasms
  • Genome
  • Area Under Curve
  • Genome-Wide Association Study
  • Bayes Theorem

• Genome-wide prediction of chromatin accessibility based on gene expression

  Zhou, W. & Ji, H., 2020, (Accepted/In press) In: Wiley Interdisciplinary Reviews: Computational Statistics.

  Research output: Contribution to journal › Article › peer-review

  • Chromatin
  • Gene Expression
  • Genome
  • Gene Regulation
  • Prediction

• Genome-wide profiling of non-smoking-related lung cancer cells reveals common RB1 rearrangements associated with histopathologic transformation in EGFR-mutant tumors

  Pros, E., Saigi, M., Alameda, D., Gomez-Mariano, G., Martinez-Delgado, B., Alburquerque-Bejar, J. J., Carretero, J., Tonda, R., Esteve-Codina, A., Catala, I., Palmero, R., Jove, M., Lazaro, C., Patiño-Garcia, A., Gil-Bazo, I., Verdura, S., Teulé, A., Torres-Lanzas, J., Sidransky, D., Reguart, N. & 6 others, Pio, R., Juan-Vidal, O., Nadal, E., Felip, E., Montuenga, L. M. & Sanchez-Cespedes, M., Feb 2020, In: Annals of Oncology. 31, 2, p. 274-282 9 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Adenocarcinoma of Lung
  • Lung Neoplasms
  • Genome
  • Neoplasms
  • Non-Smokers

• Genomic Ancestry, CYP2D6, CYP2C9, and CYP2C19 Among Latin Americans

  RIBEF Ibero-American Network of Pharmacogenetics and Pharmacogenomics, Jan 1 2020, In: Clinical pharmacology and therapeutics. 107, 1, p. 257-268 12 p.

  Research output: Contribution to journal › Article › peer-review

  • Cytochrome P-450 CYP2C9
  • Cytochrome P-450 CYP2C19
  • Cytochrome P-450 CYP2D6
  • Alleles
  • North American Indians

• Genomic and clinical characterization of stromal infiltration markers in prostate cancer

  Mahal, B. A., Alshalalfa, M., Zhao, S. G., Beltran, H., Chen, W. S., Chipidza, F., Davicioni, E., Karnes, R. J., Ku, S. Y., Lotan, T. L., Muralidhar, V., Rebbeck, T. R., Schaeffer, E. M., Spratt, D. E., Feng, F. Y. & Nguyen, P. L., Apr 1 2020, In: Cancer. 126, 7, p. 1407-1412 6 p.

  Research output: Contribution to journal › Article › peer-review

  • Prostatic Neoplasms
  • Neoplasm Metastasis
  • Prostate Cancer, Hereditary, 7
  • Radiotherapy
  • Cellular Microenvironment

• Genomic and epigenomic EBF1 alterations modulate TERT expression in gastric cancer

  Xing, M., Ooi, W. F., Tan, J., Qamra, A., Lee, P. H., Li, Z., Xu, C., Padmanabhan, N., Lim, J. Q., Guo, Y. A., Yao, X., Amit, M., Ng, L. M., Sheng, T., Wang, J., Huang, K. K., Anene-Nzelu, C. G., Ho, S. W. T., Ray, M., Ma, L. & 26 others, Fazzi, G., Lim, K. J., Wijaya, G. C., Zhang, S., Nandi, T., Yan, T., Chang, M. M., Das, K., Isa, Z. F. A., Wu, J., Poon, P. S. Y., Lam, Y. N., Lin, J. S., Tay, S. T., Lee, M. H., Tan, A. L. K., Ong, X., White, K., Rozen, S. G., Beer, M., Foo, R. S. Y., Grabsch, H. I., Skanderup, A. J., Li, S., Teh, B. T. & Tan, P., Jun 1 2020, In: Journal of Clinical Investigation. 130, 6, p. 3005-3020 16 p.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • B-Lymphocyte Subsets
  • Epigenomics
  • Stomach Neoplasms
  • Polycomb Repressive Complex 2
  • Neoplasms

• Genomic and phenotypic heterogeneity in prostate cancer

  Haffner, M., Zwart, W., Roudier, M. P., True, L. D., Nelson, W. G., Epstein, J. I., De Marzo, A. M., Nelson, P. S. & Yegnasubramanian, S., 2020, (Accepted/In press) In: Nature Reviews Urology.

  Research output: Contribution to journal › Review article › peer-review

  • Prostatic Neoplasms
  • Translational Medical Research
  • Neoplasms
  • Epigenomics
  • Clone Cells

• Genomic basis of white pine blister rust quantitative disease resistance and its relationship with qualitative resistance

  Weiss, M., Sniezko, R. A., Puiu, D., Crepeau, M. W., Stevens, K., Salzberg, S. L., Langley, C. H., Neale, D. B. & De La Torre, A. R., Oct 1 2020, In: Plant Journal. 104, 2, p. 365-376 12 p.

  Research output: Contribution to journal › Article › peer-review

  • blister rust
  • Disease Resistance
  • Blister
  • disease resistance
  • genomics

• Genomic characterization of malignant progression in neoplastic pancreatic cysts

  Noë, M., Niknafs, N., Fischer, C. G., Hackeng, W. M., Beleva Guthrie, V., Hosoda, W., Debeljak, M., Papp, E., Adleff, V., White, J. R., Luchini, C., Pea, A., Scarpa, A., Butturini, G., Zamboni, G., Castelli, P., Hong, S. M., Yachida, S., Hiraoka, N., Gill, A. J. & 18 others, Samra, J. S., Offerhaus, G. J. A., Hoorens, A., Verheij, J., Jansen, C., Adsay, N. V., Jiang, W., Winter, J., Albores-Saavedra, J., Terris, B., Thompson, E. D., Roberts, N. J., Hruban, R. H., Karchin, R., Scharpf, R. B., Brosens, L. A. A., Velculescu, V. E. & Wood, L. D., Dec 1 2020, In: Nature communications. 11, 1, 4085.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • neoplasms
  • cysts
  • Pancreatic Cyst
  • Transforming Growth Factor-beta Type II Receptors
  • progressions

• Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange

  Azzariti, D. R. & Hamosh, A., Aug 31 2020, In: Annual Review of Genomics and Human Genetics. 21, p. 305-326 22 p.

  Research output: Contribution to journal › Review article › peer-review

  • Information Dissemination
  • Genetic Association Studies
  • Rare Diseases
  • Phenotype
  • Datasets

• Genomic epidemiology of campylobacter jejuni associated with asymptomatic pediatric infection in the peruvian amazon

  Pascoe, B., Schiaffino, F., Murray, S., Méric, G., Bayliss, S. C., Hitchings, M. D., Mourkas, E., Calland, J. K., Burga, R., Yori, P. P., Jolley, K. A., Cooper, K. K., Parker, C. T., Olortegui, M. P., Kosek, M. N. & Sheppard, S. K., Aug 2020, In: PLoS neglected tropical diseases. 14, 8, p. 1-19 19 p., e0008533.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Campylobacter jejuni
  • Asymptomatic Infections
  • Epidemiology
  • Pediatrics
  • Income

• Genomic footprints of activated telomere maintenance mechanisms in cancer

  PCAWG Structural Variation Working Group & PCAWG Consortium, Dec 1 2020, In: Nature communications. 11, 1, 733.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • telomeres
  • footprints
  • Telomere
  • maintenance
  • Tumors

• Genomic heterogeneity in bladder cancer: challenges and possible solutions to improve outcomes

  Meeks, J. J., Al-Ahmadie, H., Faltas, B. M., Taylor, J. A., Flaig, T. W., DeGraff, D. J., Christensen, E., Woolbright, B. L., McConkey, D. J. & Dyrskjøt, L., May 1 2020, In: Nature Reviews Urology. 17, 5, p. 259-270 12 p.

  Research output: Contribution to journal › Review article › peer-review

  • Urinary Bladder Neoplasms
  • Carcinoma
  • Neoplasms
  • Drug Design
  • Survival

• Genomic instability and mitochondrial homeostasis in cancer: does chromatin have a say?

  Liu, Y., Li, H., Zimmerman, S. E. & Weyemi, U., 2020, In: Molecular and Cellular Oncology. 1771959.

  Research output: Contribution to journal › Comment/debate › peer-review

  Open Access

  • Genomic Instability
  • Chromatin
  • Homeostasis
  • Neoplasms
  • Neoplasm Metastasis

• Genomic integrity of human induced pluripotent stem cells across nine studies in the NHLBI NextGen program

  Kanchan, K., Iyer, K., Yanek, L. R., Carcamo-Orive, I., Taub, M. A., Malley, C., Baldwin, K., Becker, L. C., Broeckel, U., Cheng, L., Cowan, C., D'Antonio, M., Frazer, K. A., Quertermous, T., Mostoslavsky, G., Murphy, G., Rabinovitch, M., Rader, D. J., Steinberg, M. H., Topol, E. & 5 others, Yang, W., Knowles, J. W., Jaquish, C. E., Ruczinski, I. & Mathias, R. A., Jul 2020, In: Stem Cell Research. 46, 101803.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • National Heart, Lung, and Blood Institute (U.S.)
  • Induced Pluripotent Stem Cells
  • Neoplasm Genes
  • Cell Line
  • Genomic Instability

• Genomics and Infectious Diseases: Expert Perspectives on Public Health Considerations regarding Actionability and Privacy

  Walker, A., Boyce, A., Duggal, P., Thio, C. L. & Geller, G., May 1 2020, In: Ethics and Human Research. 42, 3, p. 30-40 11 p.

  Research output: Contribution to journal › Article › peer-review

  • Privacy
  • Genomics
  • contagious disease
  • Communicable Diseases
  • privacy

• Genomics in the era of COVID-19: ethical implications for clinical practice and public health

  Geller, G., Duggal, P., Thio, C. L., Mathews, D., Kahn, J. P., Maragakis, L. L. & Garibaldi, B. T., Dec 2020, In: Genome Medicine. 12, 1, 95.

  Research output: Contribution to journal › Article › peer-review

  Open Access

  • Public Health Practice
  • Disease Susceptibility
  • Genomics