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1. Machine Learning to Predict Mortality and Critical Events in a Cohort of Patients With COVID-19 in New York City: Model Development and Validation

Author: Vaid, Akhil, Somani, Sulaiman, Russak, Adam J, De Freitas, Jessica K, Chaudhry, Fayzan F, Paranjpe, Ishan, Johnson, Kipp W, Lee, Samuel J, Miotto, Riccardo, Richter, Felix, Zhao, Shan, Beckmann, Noam D, Naik, Nidhi, Kia, Arash, Timsina, Prem, Lala, Anuradha, Paranjpe, Manish, Golden, Eddye, Danieletto, Matteo, Singh, Manbir, Meyer, Dara, O'Reilly, Paul F, Huckins, Laura, Kovatch, Patricia, Finkelstein, Joseph, Freeman, Robert M., Argulian, Edgar, Kasarskis, Andrew, Percha, Bethany, Aberg, Judith A, Bagiella, Emilia, Horowitz, Carol R, Murphy, Barbara, Nestler, Eric J, Schadt, Eric E, Cho, Judy H, Cordon-Cardo, Carlos, Fuster, Valentin, Charney, Dennis S, Reich, David L, Bottinger, Erwin P, Levin, Matthew A, Narula, Jagat, Fayad, Zahi A, Just, Allan C, Charney, Alexander W, Nadkarni, Girish N, and Glicksberg, Benjamin S
Subjects: Computer applications to medicine. Medical informatics, R858-859.7, Public aspects of medicine, RA1-1270
Abstract: BackgroundCOVID-19 has infected millions of people worldwide and is responsible for several hundred thousand fatalities. The COVID-19 pandemic has necessitated thoughtful resource allocation and early identification of high-risk patients. However, effective methods to meet these needs are lacking. ObjectiveThe aims of this study were to analyze the electronic health records (EHRs) of patients who tested positive for COVID-19 and were admitted to hospitals in the Mount Sinai Health System in New York City; to develop machine learning models for making predictions about the hospital course of the patients over clinically meaningful time horizons based on patient characteristics at admission; and to assess the performance of these models at multiple hospitals and time points. MethodsWe used Extreme Gradient Boosting (XGBoost) and baseline comparator models to predict in-hospital mortality and critical events at time windows of 3, 5, 7, and 10 days from admission. Our study population included harmonized EHR data from five hospitals in New York City for 4098 COVID-19–positive patients admitted from March 15 to May 22, 2020. The models were first trained on patients from a single hospital (n=1514) before or on May 1, externally validated on patients from four other hospitals (n=2201) before or on May 1, and prospectively validated on all patients after May 1 (n=383). Finally, we established model interpretability to identify and rank variables that drive model predictions. ResultsUpon cross-validation, the XGBoost classifier outperformed baseline models, with an area under the receiver operating characteristic curve (AUC-ROC) for mortality of 0.89 at 3 days, 0.85 at 5 and 7 days, and 0.84 at 10 days. XGBoost also performed well for critical event prediction, with an AUC-ROC of 0.80 at 3 days, 0.79 at 5 days, 0.80 at 7 days, and 0.81 at 10 days. In external validation, XGBoost achieved an AUC-ROC of 0.88 at 3 days, 0.86 at 5 days, 0.86 at 7 days, and 0.84 at 10 days for mortality prediction. Similarly, the unimputed XGBoost model achieved an AUC-ROC of 0.78 at 3 days, 0.79 at 5 days, 0.80 at 7 days, and 0.81 at 10 days. Trends in performance on prospective validation sets were similar. At 7 days, acute kidney injury on admission, elevated LDH, tachypnea, and hyperglycemia were the strongest drivers of critical event prediction, while higher age, anion gap, and C-reactive protein were the strongest drivers of mortality prediction. ConclusionsWe externally and prospectively trained and validated machine learning models for mortality and critical events for patients with COVID-19 at different time horizons. These models identified at-risk patients and uncovered underlying relationships that predicted outcomes.
Published: 2020
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2. Author Correction: Divergent landscapes of A-to-I editing in postmortem and living human brain

Author: Rodriguez de los Santos, Miguel, Kopell, Brian H., Buxbaum Grice, Ariela, Ganesh, Gauri, Yang, Andy, Amini, Pardis, Liharska, Lora E., Vornholt, Eric, Fullard, John F., Dong, Pengfei, Park, Eric, Zipkowitz, Sarah, Kaji, Deepak A., Thompson, Ryan C., Liu, Donjing, Park, You Jeong, Cheng, Esther, Ziafat, Kimia, Moya, Emily, Fennessy, Brian, Wilkins, Lillian, Silk, Hannah, Linares, Lisa M., Sullivan, Brendan, Cohen, Vanessa, Kota, Prashant, Feng, Claudia, Johnson, Jessica S., Rieder, Marysia-Kolbe, Scarpa, Joseph, Nadkarni, Girish N., Wang, Minghui, Zhang, Bin, Sklar, Pamela, Beckmann, Noam D., Schadt, Eric E., Roussos, Panos, Charney, Alexander W., and Breen, Michael S.
Published: 2024
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3. Divergent landscapes of A-to-I editing in postmortem and living human brain

Author: Rodriguez de los Santos, Miguel, Kopell, Brian H., Buxbaum Grice, Ariela, Ganesh, Gauri, Yang, Andy, Amini, Pardis, Liharska, Lora E., Vornholt, Eric, Fullard, John F., Dong, Pengfei, Park, Eric, Zipkowitz, Sarah, Kaji, Deepak A., Thompson, Ryan C., Liu, Donjing, Park, You Jeong, Cheng, Esther, Ziafat, Kimia, Moya, Emily, Fennessy, Brian, Wilkins, Lillian, Silk, Hannah, Linares, Lisa M., Sullivan, Brendan, Cohen, Vanessa, Kota, Prashant, Feng, Claudia, Johnson, Jessica S., Rieder, Marysia-Kolbe, Scarpa, Joseph, Nadkarni, Girish N., Wang, Minghui, Zhang, Bin, Sklar, Pamela, Beckmann, Noam D., Schadt, Eric E., Roussos, Panos, Charney, Alexander W., and Breen, Michael S.
Published: 2024
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4. An algorithm to identify patients aged 0–3 with rare genetic disorders

Author: Webb, Bryn D., Lau, Lisa Y., Tsevdos, Despina, Shewcraft, Ryan A., Corrigan, David, Shi, Lisong, Lee, Seungwoo, Tyler, Jonathan, Li, Shilong, Wang, Zichen, Stolovitzky, Gustavo, Edelmann, Lisa, Chen, Rong, Schadt, Eric E., and Li, Li
Published: 2024
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5. Anti-correlated feature selection prevents false discovery of subpopulations in scRNAseq

Author: Tyler, Scott R., Lozano-Ojalvo, Daniel, Guccione, Ernesto, and Schadt, Eric E.
Published: 2024
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6. Isoform-resolved transcriptome of the human preimplantation embryo

Author: Torre, Denis, Francoeur, Nancy J, Kalma, Yael, Gross Carmel, Ilana, Melo, Betsaida S, Deikus, Gintaras, Allette, Kimaada, Flohr, Ron, Fridrikh, Maya, Vlachos, Konstantinos, Madrid, Kent, Shah, Hardik, Wang, Ying-Chih, Sridhar, Shwetha H, Smith, Melissa L, Eliyahu, Efrat, Azem, Foad, Amir, Hadar, Mayshar, Yoav, Marazzi, Ivan, Guccione, Ernesto, Schadt, Eric, Ben-Yosef, Dalit, and Sebra, Robert
Subjects: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Genetics, Reproductive Medicine, Pediatric, Biotechnology, Human Genome, Underpinning research, 1.1 Normal biological development and functioning, Generic health relevance, Animals, Humans, Transcriptome, Embryonic Development, Zygote, Gene Expression Profiling, Protein Isoforms, Sequence Analysis, RNA, Alternative Splicing, Blastocyst
Abstract: Human preimplantation development involves extensive remodeling of RNA expression and splicing. However, its transcriptome has been compiled using short-read sequencing data, which fails to capture most full-length mRNAs. Here, we generate an isoform-resolved transcriptome of early human development by performing long- and short-read RNA sequencing on 73 embryos spanning the zygote to blastocyst stages. We identify 110,212 unannotated isoforms transcribed from known genes, including highly conserved protein-coding loci and key developmental regulators. We further identify 17,964 isoforms from 5,239 unannotated genes, which are largely non-coding, primate-specific, and highly associated with transposable elements. These isoforms are widely supported by the integration of published multi-omics datasets, including single-cell 8CLC and blastoid studies. Alternative splicing and gene co-expression network analyses further reveal that embryonic genome activation is associated with splicing disruption and transient upregulation of gene modules. Together, these findings show that the human embryo transcriptome is far more complex than currently known, and will act as a valuable resource to empower future studies exploring development.
Published: 2023

7. Exome-wide association study to identify rare variants influencing COVID-19 outcomes: Results from the Host Genetics Initiative.

Author: Butler-Laporte, Guillaume, Povysil, Gundula, Kosmicki, Jack, Cirulli, Elizabeth, Drivas, Theodore, Furini, Simone, Saad, Chadi, Schmidt, Axel, Olszewski, Pawel, Korotko, Urszula, Quinodoz, Mathieu, Çelik, Elifnaz, Kundu, Kousik, Walter, Klaudia, Jung, Junghyun, Stockwell, Amy, Sloofman, Laura, Jordan, Daniel, Thompson, Ryan, Del Valle, Diane, Simons, Nicole, Cheng, Esther, Sebra, Robert, Schadt, Eric, Kim-Schulze, Seunghee, Gnjatic, Sacha, Merad, Miriam, Buxbaum, Joseph, Beckmann, Noam, Charney, Alexander, Przychodzen, Bartlomiej, Chang, Timothy, Pottinger, Tess, Shang, Ning, Brand, Fabian, Fava, Francesca, Mari, Francesca, Chwialkowska, Karolina, Niemira, Magdalena, Pula, Szymon, Baillie, J, Stuckey, Alex, Salas, Antonio, Bello, Xabier, Pardo-Seco, Jacobo, Gómez-Carballa, Alberto, Rivero-Calle, Irene, Martinón-Torres, Federico, Ganna, Andrea, Karczewski, Konrad, Veerapen, Kumar, Bourgey, Mathieu, Bourque, Guillaume, Eveleigh, Robert, Forgetta, Vincenzo, Morrison, David, Langlais, David, Lathrop, Mark, Mooser, Vincent, Nakanishi, Tomoko, Frithiof, Robert, Hultström, Michael, Lipcsey, Miklos, Marincevic-Zuniga, Yanara, Nordlund, Jessica, Schiabor Barrett, Kelly, Lee, William, Bolze, Alexandre, White, Simon, Riffle, Stephen, Tanudjaja, Francisco, Sandoval, Efren, Neveux, Iva, Dabe, Shaun, Casadei, Nicolas, Motameny, Susanne, Alaamery, Manal, Massadeh, Salam, Aljawini, Nora, Almutairi, Mansour, Arabi, Yaseen, Alqahtani, Saleh, Al Harthi, Fawz, Almutairi, Amal, Alqubaishi, Fatima, Alotaibi, Sarah, Binowayn, Albandari, Alsolm, Ebtehal, El Bardisy, Hadeel, Fawzy, Mohammad, Cai, Fang, Soranzo, Nicole, Butterworth, Adam, Geschwind, Daniel, Arteaga, Stephanie, Stephens, Alexis, Butte, Manish, Boutros, Paul, Yamaguchi, Takafumi, and Tao, Shu
Subjects: Humans, Exome, Genome-Wide Association Study, COVID-19, Genetic Predisposition to Disease, Toll-Like Receptor 7, SARS-CoV-2
Abstract: Host genetics is a key determinant of COVID-19 outcomes. Previously, the COVID-19 Host Genetics Initiative genome-wide association study used common variants to identify multiple loci associated with COVID-19 outcomes. However, variants with the largest impact on COVID-19 outcomes are expected to be rare in the population. Hence, studying rare variants may provide additional insights into disease susceptibility and pathogenesis, thereby informing therapeutics development. Here, we combined whole-exome and whole-genome sequencing from 21 cohorts across 12 countries and performed rare variant exome-wide burden analyses for COVID-19 outcomes. In an analysis of 5,085 severe disease cases and 571,737 controls, we observed that carrying a rare deleterious variant in the SARS-CoV-2 sensor toll-like receptor TLR7 (on chromosome X) was associated with a 5.3-fold increase in severe disease (95% CI: 2.75-10.05, p = 5.41x10-7). This association was consistent across sexes. These results further support TLR7 as a genetic determinant of severe disease and suggest that larger studies on rare variants influencing COVID-19 outcomes could provide additional insights.
Published: 2022

8. Comprehensive proteogenomic characterization of rare kidney tumors

Author: Lazar, Alexander J., Paulovich, Amanda G., Antczak, Andrzej, Green, Anthony, Ma’ayan, Avi, Pruetz, Barb, Zhang, Bing, Reva, Boris, Druker, Brian J., Goldthwaite, Charles A., Jr., Birger, Chet, Mani, D.R., Chesla, David, Fenyö, David, Schadt, Eric E., Wilson, George, Kołodziejczak, Iga, John, Ivy, Hafron, Jason, Vo, Josh, Zaalishvili, Kakhaber, Ketchum, Karen A., Rodland, Karin D., Nyce, Kristen, Wiznerowicz, Maciej, Domagalski, Marcin J., Anurag, Meenakshi, Borucki, Melissa, Gillette, Michael A., Birrer, Michael J., Edwards, Nathan J., Vatanian, Negin, VanderKolk, Pamela, McGarvey, Peter B., Dhir, Rajiv, Thangudu, Ratna R., Crispen, Reese, Smith, Richard D., Payne, Samuel H., Cottingham, Sandra, Cai, Shuang, Carr, Steven A., Liu, Tao, Le, Toan, Ma, Weiping, Zhang, Xu, Lu, Yin, Shutack, Yvonne, Zhang, Zhen, Li, Ginny Xiaohe, Chen, Lijun, Hsiao, Yi, Mannan, Rahul, Zhang, Yuping, Luo, Jie, Petralia, Francesca, Cho, Hanbyul, Hosseini, Noshad, Leprevost, Felipe da Veiga, Calinawan, Anna, Li, Yize, Anand, Shankara, Dagar, Aniket, Geffen, Yifat, Kumar-Sinha, Chandan, Chugh, Seema, Le, Anne, Ponce, Sean, Guo, Shenghao, Zhang, Cissy, Schnaubelt, Michael, Al Deen, Nataly Naser, Chen, Feng, Caravan, Wagma, Houston, Andrew, Hopkins, Alex, Newton, Chelsea J., Wang, Xiaoming, Polasky, Daniel A., Haynes, Sarah, Yu, Fengchao, Jing, Xiaojun, Chen, Siqi, Robles, Ana I., Mesri, Mehdi, Thiagarajan, Mathangi, An, Eunkyung, Getz, Gad A., Linehan, W. Marston, Hostetter, Galen, Jewell, Scott D., Chan, Daniel W., Wang, Pei, Omenn, Gilbert S., Mehra, Rohit, Ricketts, Christopher J., Ding, Li, Chinnaiyan, Arul M., Cieslik, Marcin P., Dhanasekaran, Saravana M., Zhang, Hui, and Nesvizhskii, Alexey I.
Published: 2024
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9. Analytical challenges in omics research on asthma and allergy: A National Institute of Allergy and Infectious Diseases workshop

Author: Bunyavanich, Supinda, Becker, Patrice M., Altman, Matthew C., Lasky-Su, Jessica, Ober, Carole, Zengler, Karsten, Berdyshev, Evgeny, Bonneau, Richard, Chatila, Talal, Chatterjee, Nilanjan, Chung, Kian Fan, Cutcliffe, Colleen, Davidson, Wendy, Dong, Gang, Fang, Gang, Fulkerson, Patricia, Himes, Blanca E., Liang, Liming, Mathias, Rasika A., Ogino, Shuji, Petrosino, Joseph, Price, Nathan D., Schadt, Eric, Schofield, James, Seibold, Max A., Steen, Hanno, Wheatley, Lisa, Zhang, Hongmei, Togias, Alkis, and Hasegawa, Kohei
Published: 2024
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10. A mechanistic framework for cardiometabolic and coronary artery diseases

Author: Koplev, Simon, Seldin, Marcus, Sukhavasi, Katyayani, Ermel, Raili, Pang, Shichao, Zeng, Lingyao, Bankier, Sean, Di Narzo, Antonio, Cheng, Haoxiang, Meda, Vamsidhar, Ma, Angela, Talukdar, Husain, Cohain, Ariella, Amadori, Letizia, Argmann, Carmen, Houten, Sander M, Franzén, Oscar, Mocci, Giuseppe, Meelu, Omar A, Ishikawa, Kiyotake, Whatling, Carl, Jain, Anamika, Jain, Rajeev Kumar, Gan, Li-Ming, Giannarelli, Chiara, Roussos, Panos, Hao, Ke, Schunkert, Heribert, Michoel, Tom, Ruusalepp, Arno, Schadt, Eric E, Kovacic, Jason C, Lusis, Aldon J, and Björkegren, Johan LM
Subjects: Biological Sciences, Bioinformatics and Computational Biology, Biomedical and Clinical Sciences, Heart Disease - Coronary Heart Disease, Genetics, Heart Disease, Human Genome, Cardiovascular, Atherosclerosis, 2.1 Biological and endogenous factors, Coronary Artery Disease, Animals, Humans, Gene Regulatory Networks, Cardiometabolic Risk Factors, Female, Genetic Predisposition to Disease, Mice, Male, Middle Aged, Mice, Inbred C57BL, Disease Models, Animal, Databases, Genetic, Blood Glucose, Phenotype, Case-Control Studies, Adipose Tissue, Adipokines
Abstract: Coronary atherosclerosis results from the delicate interplay of genetic and exogenous risk factors, principally taking place in metabolic organs and the arterial wall. Here we show that 224 gene-regulatory coexpression networks (GRNs) identified by integrating genetic and clinical data from patients with (n = 600) and without (n = 250) coronary artery disease (CAD) with RNA-seq data from seven disease-relevant tissues in the Stockholm-Tartu Atherosclerosis Reverse Network Engineering Task (STARNET) study largely capture this delicate interplay, explaining >54% of CAD heritability. Within 89 cross-tissue GRNs associated with clinical severity of CAD, 374 endocrine factors facilitated inter-organ interactions, primarily along an axis from adipose tissue to the liver (n = 152). This axis was independently replicated in genetically diverse mouse strains and by injection of recombinant forms of adipose endocrine factors (EPDR1, FCN2, FSTL3 and LBP) that markedly altered blood lipid and glucose levels in mice. Altogether, the STARNET database and the associated GRN browser (http://starnet.mssm.edu) provide a multiorgan framework for exploration of the molecular interplay between cardiometabolic disorders and CAD.
Published: 2022

11. Pan-cancer proteogenomics characterization of tumor immunity

Author: Abelin, Jennifer, Aguet, François, Akiyama, Yo, An, Eunkyung, Anand, Shankara, Anurag, Meenakshi, Babur, Özgün, Bavarva, Jasmin, Birger, Chet, Birrer, Michael J., Cao, Song, Carr, Steven A., Chan, Daniel W., Chinnaiyan, Arul M., Cho, Hanbyul, Clauser, Karl, Colaprico, Antonio, Zhou, Daniel Cui, da Veiga Leprevost, Felipe, Day, Corbin, Dhanasekaran, Saravana M., Ding, Li, Domagalski, Marcin J., Dou, Yongchao, Druker, Brian J., Edwards, Nathan, Ellis, Matthew J., Foltz, Steven M., Francis, Alicia, Geffen, Yifat, Getz, Gad, Heiman, David I., Hong, Runyu, Hu, Yingwei, Huang, Chen, Jaehnig, Eric J., Jewell, Scott D., Ji, Jiayi, Jiang, Wen, Katsnelson, Lizabeth, Ketchum, Karen A., Kolodziejczak, Iga, Krug, Karsten, Kumar-Sinha, Chandan, Lei, Jonathan T., Liang, Wen-Wei, Liao, Yuxing, Lindgren, Caleb M., Liu, Tao, Liu, Wenke, McDermott, Jason, McKerrow, Wilson, Mesri, Mehdi, Mumphrey, Michael Brodie, Newton, Chelsea J., Oldroyd, Robert, Payne, Samuel H., Pugliese, Pietro, Rodland, Karin D., Rodrigues, Fernanda Martins, Ruggles, Kelly V., Savage, Sara R., Schadt, Eric E., Schnaubelt, Michael, Schraink, Tobias, Schürer, Stephan, Shi, Zhiao, Smith, Richard D., Song, Feng, Song, Yizhe, Stathias, Vasileios, Storrs, Erik P., Tan, Jimin, Terekhanova, Nadezhda V., Thangudu, Ratna R., Thiagarajan, Mathangi, Wang, Liang-Bo, Wen, Bo, Wu, Yige, Wyczalkowski, Matthew A., Yao, Lijun, Li, Qing Kay, Zhang, Hui, Zhang, Qing, Zhang, Xu, Zhang, Zhen, Petralia, Francesca, Ma, Weiping, Yaron, Tomer M., Caruso, Francesca Pia, Tignor, Nicole, Wang, Joshua M., Charytonowicz, Daniel, Johnson, Jared L., Huntsman, Emily M., Marino, Giacomo B., Calinawan, Anna, Evangelista, John Erol, Selvan, Myvizhi Esai, Chowdhury, Shrabanti, Rykunov, Dmitry, Krek, Azra, Song, Xiaoyu, Turhan, Berk, Christianson, Karen E., Lewis, David A., Deng, Eden Z., Clarke, Daniel J.B., Whiteaker, Jeffrey R., Kennedy, Jacob J., Zhao, Lei, Segura, Rossana Lazcano, Batra, Harsh, Raso, Maria Gabriela, Parra, Edwin Roger, Soundararajan, Rama, Tang, Ximing, Li, Yize, Yi, Xinpei, Satpathy, Shankha, Wang, Ying, Wiznerowicz, Maciej, González-Robles, Tania J., Iavarone, Antonio, Gosline, Sara J.C., Reva, Boris, Robles, Ana I., Nesvizhskii, Alexey I., Mani, D.R., Gillette, Michael A., Klein, Robert J., Cieslik, Marcin, Zhang, Bing, Paulovich, Amanda G., Sebra, Robert, Gümüş, Zeynep H., Hostetter, Galen, Fenyö, David, Omenn, Gilbert S., Cantley, Lewis C., Ma'ayan, Avi, Lazar, Alexander J., Ceccarelli, Michele, and Wang, Pei
Published: 2024
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12. Proteomic characterization of acute kidney injury in patients hospitalized with SARS-CoV2 infection

Author: Paranjpe, Ishan, Jayaraman, Pushkala, Su, Chen-Yang, Zhou, Sirui, Chen, Steven, Thompson, Ryan, Del Valle, Diane Marie, Kenigsberg, Ephraim, Zhao, Shan, Jaladanki, Suraj, Chaudhary, Kumardeep, Ascolillo, Steven, Vaid, Akhil, Gonzalez-Kozlova, Edgar, Kauffman, Justin, Kumar, Arvind, Paranjpe, Manish, Hagan, Ross O., Kamat, Samir, Gulamali, Faris F., Xie, Hui, Harris, Joceyln, Patel, Manishkumar, Argueta, Kimberly, Batchelor, Craig, Nie, Kai, Dellepiane, Sergio, Scott, Leisha, Levin, Matthew A., He, John Cijiang, Suarez-Farinas, Mayte, Coca, Steven G., Chan, Lili, Azeloglu, Evren U., Schadt, Eric, Beckmann, Noam, Gnjatic, Sacha, Merad, Miram, Kim-Schulze, Seunghee, Richards, Brent, Glicksberg, Benjamin S., Charney, Alexander W., and Nadkarni, Girish N.
Published: 2023
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13. A temporal classifier predicts histopathology state and parses acute-chronic phasing in inflammatory bowel disease patients

Author: Peters, Lauren A., Friedman, Joshua R., Stojmirovic, Aleksandar, Hagen, Jacob, Houten, Sander, Dodatko, Tetyana, Amaro, Mariana P., Restrepo, Paula, Chai, Zhi, Rodrigo Mora, J., Raymond, Holly A., Curran, Mark, Dobrin, Radu, Das, Anuk, Xiong, Huabao, Schadt, Eric E., Argmann, Carmen, and Losic, Bojan
Published: 2023
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14. Circulating proteins to predict COVID-19 severity

Author: Su, Chen-Yang, Zhou, Sirui, Gonzalez-Kozlova, Edgar, Butler-Laporte, Guillaume, Brunet-Ratnasingham, Elsa, Nakanishi, Tomoko, Jeon, Wonseok, Morrison, David R., Laurent, Laetitia, Afilalo, Jonathan, Afilalo, Marc, Henry, Danielle, Chen, Yiheng, Carrasco-Zanini, Julia, Farjoun, Yossi, Pietzner, Maik, Kimchi, Nofar, Afrasiabi, Zaman, Rezk, Nardin, Bouab, Meriem, Petitjean, Louis, Guzman, Charlotte, Xue, Xiaoqing, Tselios, Chris, Vulesevic, Branka, Adeleye, Olumide, Abdullah, Tala, Almamlouk, Noor, Moussa, Yara, DeLuca, Chantal, Duggan, Naomi, Schurr, Erwin, Brassard, Nathalie, Durand, Madeleine, Del Valle, Diane Marie, Thompson, Ryan, Cedillo, Mario A., Schadt, Eric, Nie, Kai, Simons, Nicole W., Mouskas, Konstantinos, Zaki, Nicolas, Patel, Manishkumar, Xie, Hui, Harris, Jocelyn, Marvin, Robert, Cheng, Esther, Tuballes, Kevin, Argueta, Kimberly, Scott, Ieisha, Greenwood, Celia M. T., Paterson, Clare, Hinterberg, Michael A., Langenberg, Claudia, Forgetta, Vincenzo, Pineau, Joelle, Mooser, Vincent, Marron, Thomas, Beckmann, Noam D., Kim-schulze, Seunghee, Charney, Alexander W., Gnjatic, Sacha, Kaufmann, Daniel E., Merad, Miriam, and Richards, J. Brent
Published: 2023
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15. Haploinsufficiency of POU4F1 causes an ataxia syndrome with hypotonia and intention tremor

Author: Webb, Bryn D, Evans, Anthony, Naidich, Thomas P, Bird, Lynne M, Parikh, Sumit, Garcia, Meilin Fernandez, Henderson, Lindsay B, Millan, Francisca, Si, Yue, Brennand, Kristen J, Hung, Peter, Rucker, Janet C, Wheeler, Patricia G, and Schadt, Eric E
Subjects: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Clinical Research, Brain Disorders, Rare Diseases, Neurosciences, 4.1 Discovery and preclinical testing of markers and technologies, Aetiology, Detection, screening and diagnosis, 2.1 Biological and endogenous factors, Neurological, Adult, Ataxia, Child, Child, Preschool, Female, Haploinsufficiency, Humans, Magnetic Resonance Imaging, Male, Muscle Hypotonia, Mutation, Missense, Retrospective Studies, Syndrome, Transcription Factor Brn-3A, Tremor, United States, Exome Sequencing, Young Adult, ataxia, intention tremor, paroxysmal tonic upgaze, POU4F1, Clinical Sciences, Genetics & Heredity, Clinical sciences
Abstract: De novo, heterozygous, loss-of-function variants were identified in Pou domain, class 4, transcription factor 1 (POU4F1) via whole-exome sequencing in four independent probands presenting with ataxia, intention tremor, and hypotonia. POU4F1 is expressed in the developing nervous system, and mice homozygous for null alleles of Pou4f1 exhibit uncoordinated movements with newborns being unable to successfully right themselves to feed. Head magnetic resonance imaging of the four probands was reviewed and multiple abnormalities were noted, including significant cerebellar vermian atrophy and hypertrophic olivary degeneration in one proband. Transcriptional activation of the POU4F1 p.Gln306Arg protein was noted to be decreased when compared with wild type. These findings suggest that heterozygous, loss-of-function variants in POU4F1 are causative of a novel ataxia syndrome.
Published: 2021

16. Integration of transcriptomes of senescent cell models with multi-tissue patient samples reveals reduced COL6A3 as an inducer of senescence

Author: Savić, Radoslav, Yang, Jialiang, Koplev, Simon, An, Mahru C., Patel, Priyanka L., O’Brien, Robert N., Dubose, Brittany N., Dodatko, Tetyana, Rogatsky, Eduard, Sukhavasi, Katyayani, Ermel, Raili, Ruusalepp, Arno, Houten, Sander M., Kovacic, Jason C., Stewart, Andrew F., Yohn, Christopher B., Schadt, Eric E., Laberge, Remi-Martin, Björkegren, Johan L.M., Tu, Zhidong, and Argmann, Carmen
Published: 2023
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17. HLA-DP on Epithelial Cells Enables Tissue Damage by NKp44+ Natural Killer Cells in Ulcerative Colitis

Author: Akar, Alaa, Flemming, Cornelius, Felix, Flomm, Flosbach, Markus, Jäger, Julia, Jeromin, Niklas, Jung, Johannes, Ohms, Mareike, Reinshagen, Konrad, Rische, Johann, Sagebiel, Adrian, Sandfort, Deborah, Steinert, Fenja, Tomuschat, Christian, Wesche, Jasmin, Shifteh Abedian, Abraham, Clara, Achkar, Jean-Paul, Ahmad, Tariq, Alberts, Rudi, Alizadeh, Behrooz, Amininejad, Leila, Ananthakrishnan, Ashwin N., Andersen, Vibeke, Anderson, Carl A., Andrews, Jane M., Annese, Vito, Aumais, Guy, Baidoo, Leonard, Baldassano, Robert N., Bampton, Peter A., Barclay, Murray, Barrett, Jeffrey C., Bethge, Johannes, Bewshea, Claire, Bis, Joshua C., Bitton, Alain, BK, Thelma, Boucher, Gabrielle, Brain, Oliver, Brand, Stephan, Brant, Steven R., Cheon, Jae Hee, Chew, Angela, Cho, Judy H., Cleynen, Isabelle, Cohain, Ariella, Cooney, Rachel, Croft, Anthony, Daly, Mark J., D'Amato, Mauro, Danese, Silvio, Daryani, Naser Ebrahim, Datta, Lisa Wu, Degenhardt, Frauke, Denapiene, Goda, Denson, Lee A., Devaney, Kathy L., Dewit, Olivier, D'Inca, Renata, Drummond, Hazel E., Dubinsky, Marla, Duerr, Richard H., Edwards, Cathryn, Ellinghaus, David, Ellul, Pierre, Esaki, Motohiro, Essers, Jonah, Ferguson, Lynnette R., Festen, Eleonora A., Fleshner, Philip, Florin, Tim, Franchimont, Denis, Franke, Andre, Fuyuno, Yuta, Gearry, Richard, Georges, Michel, Gieger, Christian, Glas, Jürgen, Goyette, Philippe, Green, Todd, Griffiths, Anne M., Guthery, Stephen L., Hakonarson, Hakon, Halfvarson, Jonas, Hanigan, Katherine, Haritunians, Talin, Hart, Ailsa, Hawkey, Chris, Hayward, Nicholas K., Hedl, Matija, Henderson, Paul, Hold, Georgina L., Hong, Myhunghee, Hu, Xinli, Huang, Hailiang, Hugot, Jean-Pierre, Hui, Ken Y., Imielinski, Marcin, Jazayeri, Omid, Jonaitis, Laimas, Jostins, Luke, Juyal, Garima, Chandra Juyal, Ramesh, Kalla, Rahul, Karlsen, Tom H., Kennedy, Nicholas A., Khan, Mohammed Azam, Kim, Won Ho, Kitazono, Takanari, Kiudelis, Gediminas, Kubo, Michiaki, Kugathasan, Subra, Kupcinskas, Limas, Lamb, Christopher A., de Lange, Katrina M., Latiano, Anna, Laukens, Debby, Lawrance, Ian C., Lee, James C., Lees, Charlie W., Leja, Marcis, Lewis, Nina, Van Limbergen, Johan, Lionetti, Paolo, Liu, Jimmy Z., Louis, Edouard, Luo, Yang, Mahy, Gillian, Malekzadeh, Masoud Mohammad, Malekzadeh, Reza, Mansfield, John, Marriott, Suzie, Massey, Dunecan, Mathew, Christopher G., Matsui, Toshiyuki, McGovern, Dermot P.B., van der Meulen, Andrea, Midha, Vandana, Milgrom, Raquel, Mirzaei, Samaneh, Mitrovic, Mitja, Montgomery, Grant W., Mowat, Craig, Müller, Christoph, Newman, William G., Ng, Aylwin, Ng, Siew C., Evelyn Ng, Sok Meng, Nikolaus, Susanna, Ning, Kaida, Nöthen, Markus, Oikonomou, Ioannis, Okou, David, Orchard, Timothy R., Palmieri, Orazio, Parkes, Miles, Phillips, Anne, Ponsioen, Cyriel Y., Potocnik, Urõs, Poustchi, Hossein, Prescott, Natalie J., Proctor, Deborah D., Radford-Smith, Graham, Rahier, Jean- Francois, Regueiro, Miguel, Reinisch, Walter, Rieder, Florian, Rioux, John D., Roberts, Rebecca, Rogler, Gerhard, Russell, Richard K., Sanderson, Jeremy D., Sans, Miquel, Satsangi, Jack, Schadt, Eric E., Scharl, Michael, Schembri, John, Schreiber, Stefan, Schumm, L. Philip, Scott, Regan, Seielstad, Mark, Shah, Tejas, Sharma, Yashoda, Silverberg, Mark S., Simmons, Alison, Simms, Lisa A., Singh, Abhey, Skieceviciene, Jurgita, van Sommeren, Suzanne, Song, Kyuyoung, Sood, Ajit, Spain, Sarah L., Steinhart, A. Hillary, Stempak, Joanne M., Stronati, Laura, Sung, Joseph J.Y., Targan, Stephan R., Taylor, Kirstin M., Theatre, Emilie, Torkvist, Leif, Torres, Esther A., Tremelling, Mark, Uhlig, Holm H., Umeno, Junji, Vahedi, Homayon, Vasiliauskas, Eric, Velde, Anje ter, Ventham, Nicholas T., Vermeire, Severine, Verspaget, Hein W., De Vos, Martine, Walters, Thomas, Wang, Kai, Wang, Ming-Hsi, Weersma, Rinse K., Wei, Zhi, Whiteman, David, Wijmenga, Cisca, Wilson, David C., Winkelmann, Juliane, Wong, Sunny H., Xavier, Ramnik J., Yamazaki, Keiko, Yang, Suk-Kyun, Ye, Byong Duk, Zeissig, Sebastian, Zhang, Bin, Zhang, Clarence K., Zhang, Hu, Zhang, Wei, Zhao, Hongyu, Zhao, Zhen Z., Baumdick, Martin E., Niehrs, Annika, Schwerk, Maria, Hinrichs, Ole, Jordan-Paiz, Ana, Padoan, Benedetta, Wegner, Lucy H.M., Schloer, Sebastian, Zecher, Britta F., Malsy, Jakob, Joshi, Vinita R., Illig, Christin, Schröder-Schwarz, Jennifer, Möller, Kimberly J., Martin, Maureen P., Yuki, Yuko, Ozawa, Mikki, Sauter, Jürgen, Schmidt, Alexander H., Perez, Daniel, Giannou, Anastasios D., Carrington, Mary, Davis, Randall S., Schumacher, Udo, Sauter, Guido, Huber, Samuel, Puelles, Victor G., Melling, Nathaniel, Altfeld, Marcus, and Bunders, Madeleine J.
Published: 2023
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18. An integrative multiomic network model links lipid metabolism to glucose regulation in coronary artery disease.

Author: Cohain, Ariella, Barrington, William, Jordan, Daniel, Beckmann, Noam, Argmann, Carmen, Houten, Sander, Charney, Alexander, Ermel, Raili, Sukhavasi, Katyayani, Franzen, Oscar, Koplev, Simon, Whatling, Carl, Belbin, Gillian, Yang, Jialiang, Hao, Ke, Kenny, Eimear, Tu, Zhidong, Zhu, Jun, Gan, Li-Ming, Do, Ron, Giannarelli, Chiara, Kovacic, Jason, Ruusalepp, Arno, Lusis, Aldons, Bjorkegren, Johan, and Schadt, Eric
Subjects: Animals, Blood Glucose, Cholesterol, Coronary Artery Disease, Diabetes Mellitus, Type 2, Female, Gene Expression Regulation, Gene Regulatory Networks, Genetic Predisposition to Disease, Genome-Wide Association Study, Glucose, Humans, Hypercholesterolemia, Lipid Metabolism, Mice, Inbred C57BL, Models, Biological, Polymorphism, Single Nucleotide, Mice
Abstract: Elevated plasma cholesterol and type 2 diabetes (T2D) are associated with coronary artery disease (CAD). Individuals treated with cholesterol-lowering statins have increased T2D risk, while individuals with hypercholesterolemia have reduced T2D risk. We explore the relationship between lipid and glucose control by constructing network models from the STARNET study with sequencing data from seven cardiometabolic tissues obtained from CAD patients during coronary artery by-pass grafting surgery. By integrating gene expression, genotype, metabolomic, and clinical data, we identify a glucose and lipid determining (GLD) regulatory network showing inverse relationships with lipid and glucose traits. Master regulators of the GLD network also impact lipid and glucose levels in inverse directions. Experimental inhibition of one of the GLD network master regulators, lanosterol synthase (LSS), in mice confirms the inverse relationships to glucose and lipid levels as predicted by our model and provides mechanistic insights.
Published: 2021

19. Molecular states during acute COVID-19 reveal distinct etiologies of long-term sequelae

Author: Thompson, Ryan C., Simons, Nicole W., Wilkins, Lillian, Cheng, Esther, Del Valle, Diane Marie, Hoffman, Gabriel E., Cervia, Carlo, Fennessy, Brian, Mouskas, Konstantinos, Francoeur, Nancy J., Johnson, Jessica S., Lepow, Lauren, Le Berichel, Jessica, Chang, Christie, Beckmann, Aviva G., Wang, Ying-chih, Nie, Kai, Zaki, Nicholas, Tuballes, Kevin, Barcessat, Vanessa, Cedillo, Mario A., Yuan, Dan, Huckins, Laura, Roussos, Panos, Marron, Thomas U., Glicksberg, Benjamin S., Nadkarni, Girish, Heath, James R., Gonzalez-Kozlova, Edgar, Boyman, Onur, Kim-Schulze, Seunghee, Sebra, Robert, Merad, Miriam, Gnjatic, Sacha, Schadt, Eric E., Charney, Alexander W., and Beckmann, Noam D.
Published: 2023
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20. Integrative multi-omic cancer profiling reveals DNA methylation patterns associated with therapeutic vulnerability and cell-of-origin

Author: Aguet, François, Akiyama, Yo, An, Eunkyung, Anand, Shankara, Anurag, Meenakshi, Babur, Ozgun, Bavarva, Jasmin, Birger, Chet, Birrer, Michael, Calinawan, Anna, Cantley, Lewis C., Cao, Song, Carr, Steve, Ceccarelli, Michele, Chan, Daniel, Chinnaiyan, Arul, Cho, Hanbyul, Chowdhury, Shrabanti, Cieslik, Marcin, Clauser, Karl, Colaprico, Antonio, Zhou, Daniel Cui, da Veiga Leprevost, Felipe, Day, Corbin, Dhanasekaran, Mohan, Domagalski, Marcin, Dou, Yongchao, Druker, Brian, Edwards, Nathan, Ellis, Matthew, Selvan, Myvizhi Esai, Francis, Alicia, Getz, Gad, Gillette, Michael A., Robles, Tania Gonzalez, Gosline, Sara, Gümüş, Zeynep, Heiman, David, Hiltke, Tara, Hong, Runyu, Hostetter, Galen, Hu, Yingwei, Huang, Chen, Huntsman, Emily, Iavarone, Antonio, Jaehnig, Eric, Jewel, Scott, Ji, Jiayi, Jiang, Wen, Lee Johnson, Jared, Katsnelson, Lizabeth, Ketchum, Karen, Krug, Karsten, Kumar-Sinha, Chandan, Lei, Jonathan, Liao, Yuxing, Lindgren, Caleb, Liu, Tao, Liu, Wenke, Ma, Weiping, Rodrigues, Fernanda Martins, McKerrow, Wilson, Mesri, Mehdi, Nesvizhskii, Alexey I., Newton, Chelsea, Oldroyd, Robert, Omenn, Gilbert, Paulovich, Amanda, Petralia, Francesca, Pugliese, Pietro, Reva, Boris, Ruggles, Kelly, Rykunov, Dmitry, Satpathy, Shankha, Savage, Sara, Schadt, Eric, Schnaubelt, Michael, Schraink, Tobias, Shi, Zhiao, Smith, Dick, Song, Xiaoyu, Stathias, Vasileios, Storrs, Erik, Tan, Jimin, Terekhanova, Nadezhda, Thangudu, Ratna, Thiagarajan, Mathangi, Tignor, Nicole, Wang, Joshua, Wang, Liang-Bo, Wang, Pei, Wang, Ying (Cindy), Wen, Bo, Wu, Yige, Yao, Lijun, Yaron, Tomer M., Yi, Xinpei, Zhang, Bing, Zhang, Hui, Zhang, Qing, Zhang, Xu, Zhang, Zhen, Chan, Daniel W., Dhanasekaran, Saravana M., Schürer, Stephan, Smith, Richard D., Wyczalkowski, Matthew A., Liang, Wen-Wei, Lu, Rita Jui-Hsien, Jayasinghe, Reyka G., Foltz, Steven M., Porta-Pardo, Eduard, Geffen, Yifat, Wendl, Michael C., Lazcano, Rossana, Kolodziejczak, Iga, Song, Yizhe, Govindan, Akshay, Demicco, Elizabeth G., Li, Xiang, Li, Yize, Sethuraman, Sunantha, Payne, Samuel H., Fenyö, David, Rodriguez, Henry, Wiznerowicz, Maciej, Shen, Hui, Mani, D.R., Rodland, Karin D., Lazar, Alexander J., Robles, Ana I., and Ding, Li
Published: 2023
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21. Proteogenomic insights suggest druggable pathways in endometrial carcinoma

Author: Antczak, Andrzej, Anurag, Meenakshi, Bauer, Thomas, Birger, Chet, Birrer, Michael J., Borucki, Melissa, Cai, Shuang, Calinawan, Anna, Carr, Steven A., Castro, Patricia, Cerda, Sandra, Chan, Daniel W., Chesla, David, Cieslik, Marcin P., Cottingham, Sandra, Dhir, Rajiv, Domagalski, Marcin J., Druker, Brian J., Duffy, Elizabeth, Edwards, Nathan J., Edwards, Robert, Ellis, Matthew J., Eschbacher, Jennifer, Fam, Mina, Fevrier-Sullivan, Brenda, Francis, Jesse, Freymann, John, Gabriel, Stacey, Getz, Gad, Gillette, Michael A., Godwin, Andrew K., Goldthwaite, Charles A., Grady, Pamela, Hafron, Jason, Hariharan, Pushpa, Hindenach, Barbara, Hoadley, Katherine A., Huang, Jasmine, Ittmann, Michael M., Johnson, Ashlie, Jones, Corbin D., Ketchum, Karen A., Kirby, Justin, Le, Toan, Ma'ayan, Avi, Madan, Rashna, Mareedu, Sailaja, McGarvey, Peter B., Modugno, Francesmary, Montgomery, Rebecca, Nyce, Kristen, Paulovich, Amanda G., Pruetz, Barbara L., Qi, Liqun, Richey, Shannon, Schadt, Eric E., Shutack, Yvonne, Singh, Shilpi, Smith, Michael, Tansil, Darlene, Thangudu, Ratna R., Tobin, Matt, Um, Ki Sung, Vatanian, Negin, Webster, Alex, Wilson, George D., Wright, Jason, Zaalishvili, Kakhaber, Zhang, Zhen, Zhao, Grace, Dou, Yongchao, Katsnelson, Lizabeth, Gritsenko, Marina A., Hu, Yingwei, Reva, Boris, Hong, Runyu, Wang, Yi-Ting, Kolodziejczak, Iga, Lu, Rita Jui-Hsien, Tsai, Chia-Feng, Bu, Wen, Liu, Wenke, Guo, Xiaofang, An, Eunkyung, Arend, Rebecca C., Bavarva, Jasmin, Chen, Lijun, Chu, Rosalie K., Czekański, Andrzej, Davoli, Teresa, Demicco, Elizabeth G., DeLair, Deborah, Devereaux, Kelly, Dhanasekaran, Saravana M., Dottino, Peter, Dover, Bailee, Fillmore, Thomas L., Foxall, McKenzie, Hermann, Catherine E., Hiltke, Tara, Hostetter, Galen, Jędryka, Marcin, Jewell, Scott D., Johnson, Isabelle, Kahn, Andrea G., Ku, Amy T., Kumar-Sinha, Chandan, Kurzawa, Paweł, Lazar, Alexander J., Lazcano, Rossana, Lei, Jonathan T., Li, Yi, Liao, Yuxing, Lih, Tung-Shing M., Lin, Tai-Tu, Martignetti, John A., Masand, Ramya P., Matkowski, Rafał, McKerrow, Wilson, Mesri, Mehdi, Monroe, Matthew E., Moon, Jamie, Moore, Ronald J., Nestor, Michael D., Newton, Chelsea, Omelchenko, Tatiana, Omenn, Gilbert S., Payne, Samuel H., Petyuk, Vladislav A., Robles, Ana I., Rodriguez, Henry, Ruggles, Kelly V., Rykunov, Dmitry, Savage, Sara R., Schepmoes, Athena A., Shi, Tujin, Shi, Zhiao, Tan, Jimin, Taylor, Mason, Thiagarajan, Mathangi, Wang, Joshua M., Weitz, Karl K., Wen, Bo, Williams, C.M., Wu, Yige, Wyczalkowski, Matthew A., Yi, Xinpei, Zhang, Xu, Zhao, Rui, Mutch, David, Chinnaiyan, Arul M., Smith, Richard D., Nesvizhskii, Alexey I., Wang, Pei, Wiznerowicz, Maciej, Ding, Li, Mani, D.R., Zhang, Hui, Anderson, Matthew L., Rodland, Karin D., Zhang, Bing, Liu, Tao, and Fenyö, David
Published: 2023
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22. Pan-cancer proteogenomics connects oncogenic drivers to functional states

Author: An, Eunkyung, Anurag, Meenakshi, Bavarva, Jasmin, Birrer, Michael J., Calinawan, Anna, Ceccarelli, Michele, Chan, Daniel W., Chinnaiyan, Arul M., Cho, Hanbyul, Chowdhury, Shrabanti, Cieslik, Marcin P., da Veiga Leprevost, Felipe, Day, Corbin, Domagalski, Marcin J., Dou, Yongchao, Druker, Brian J., Edwards, Nathan, Ellis, Matthew J., Selvan, Myvizhi Esai, Foltz, Steven M., Francis, Alicia, Gonzalez Robles, Tania J., Gosline, Sara J.C., Gümüş, Zeynep H., Hiltke, Tara, Hong, Runyu, Hostetter, Galen, Hu, Yingwei, Huang, Chen, Huntsman, Emily, Jaehnig, Eric J., Jewel, Scott D., Ji, Jiayi, Jiang, Wen, Katsnelson, Lizabeth, Ketchum, Karen A., Kolodziejczak, Iga, Lei, Jonathan T., Liao, Yuxing, Lindgren, Caleb M., Liu, Tao, Ma, Weiping, McKerrow, Wilson, Nesvizhskii, Alexey I., Newton, Chelsea, Oldroyd, Robert, Omenn, Gilbert S., Paulovich, Amanda G., Petralia, Francesca, Reva, Boris, Rodland, Karin D., Ruggles, Kelly V., Rykunov, Dmitry, Savage, Sara R., Schadt, Eric E., Schnaubelt, Michael, Schraink, Tobias, Shi, Zhiao, Smith, Richard D., Song, Xiaoyu, Tan, Jimin, Thangudu, Ratna R., Tignor, Nicole, Wang, Joshua M., Wang, Pei, Wang, Ying (Cindy), Wen, Bo, Wiznerowicz, Maciej, Yi, Xinpei, Zhang, Bing, Zhang, Hui, Zhang, Xu, Zhang, Zhen, Li, Yize, Porta-Pardo, Eduard, Tokheim, Collin, Bailey, Matthew H., Yaron, Tomer M., Stathias, Vasileios, Geffen, Yifat, Imbach, Kathleen J., Cao, Song, Anand, Shankara, Akiyama, Yo, Liu, Wenke, Wyczalkowski, Matthew A., Song, Yizhe, Storrs, Erik P., Wendl, Michael C., Zhang, Wubing, Sibai, Mustafa, Ruiz-Serra, Victoria, Liang, Wen-Wei, Terekhanova, Nadezhda V., Rodrigues, Fernanda Martins, Clauser, Karl R., Heiman, David I., Zhang, Qing, Aguet, Francois, Calinawan, Anna P., Dhanasekaran, Saravana M., Birger, Chet, Satpathy, Shankha, Zhou, Daniel Cui, Wang, Liang-Bo, Baral, Jessika, Johnson, Jared L., Huntsman, Emily M., Pugliese, Pietro, Colaprico, Antonio, Iavarone, Antonio, Chheda, Milan G., Ricketts, Christopher J., Fenyö, David, Payne, Samuel H., Rodriguez, Henry, Robles, Ana I., Gillette, Michael A., Kumar-Sinha, Chandan, Lazar, Alexander J., Cantley, Lewis C., Getz, Gad, and Ding, Li
Published: 2023
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23. Pan-cancer analysis of post-translational modifications reveals shared patterns of protein regulation

Author: An, Eunkyung, Anurag, Meenakshi, Bavarva, Jasmin, Birrer, Michael J., Babur, Özgün, Cao, Song, Ceccarelli, Michele, Chan, Daniel W., Chinnaiyan, Arul M., Cho, Hanbyul, Chowdhury, Shrabanti, Cieslik, Marcin P., Colaprico, Antonio, Carr, Steven A., da Veiga Leprevost, Felipe, Day, Corbin, Domagalski, Marcin J., Dou, Yongchao, Druker, Brian J., Edwards, Nathan, Ellis, Matthew J., Fenyo, David, Foltz, Steven M., Francis, Alicia, Gonzalez Robles, Tania J., Gosline, Sara J.C., Gümüş, Zeynep H., Hiltke, Tara, Hong, Runyu, Hostetter, Galen, Hu, Yingwei, Huang, Chen, Iavarone, Antonio, Jaehnig, Eric J., Jewel, Scott D., Ji, Jiayi, Jiang, Wen, Katsnelson, Lizabeth, Ketchum, Karen A., Kolodziejczak, Iga, Kumar-Sinha, Chandan, Krug, Karsten, Lei, Jonathan T., Liang, Wen-Wei, Liao, Yuxing, Lindgren, Caleb M., Liu, Tao, Liu, Wenke, Ma, Weiping, McKerrow, Wilson, Mesri, Mehdi, Mani, D.R., Nesvizhskii, Alexey I., Newton, Chelsea, Oldroyd, Robert, Omenn, Gilbert S., Paulovich, Amanda G., Petralia, Francesca, Pugliese, Pietro, Reva, Boris, Rodland, Karin D., Ruggles, Kelly V., Rykunov, Dmitry, Rodrigues, Fernanda Martins, Savage, Sara R., Schadt, Eric E., Schnaubelt, Michael, Schraink, Tobias, Shi, Zhiao, Smith, Richard D., Song, Xiaoyu, Stathias, Vasileios, Storrs, Erik P., Schürer, Stephan, Selvan, Myvizhi Esai, Tan, Jimin, Terekhanova, Nadezhda V., Thangudu, Ratna R., Tignor, Nicole, Thiagarajan, Mathangi, Wang, Joshua M., Wang, Pei, Wang, Ying (Cindy), Wen, Bo, Wiznerowicz, Maciej, Wu, Yige, Wyczalkowski, Matthew A., Yao, Lijun, Yi, Xinpei, Zhang, Bing, Zhang, Hui, Zhang, Xu, Zhang, Zhen, Zhou, Daniel Cui, Geffen, Yifat, Anand, Shankara, Akiyama, Yo, Yaron, Tomer M., Song, Yizhe, Johnson, Jared L., Govindan, Akshay, Li, Yize, Huntsman, Emily, Wang, Liang-Bo, Birger, Chet, Heiman, David I., Zhang, Qing, Miller, Mendy, Maruvka, Yosef E., Haradhvala, Nicholas J., Calinawan, Anna, Belkin, Saveliy, Kerelsky, Alexander, Clauser, Karl R., Satpathy, Shankha, Payne, Samuel H., Gillette, Michael A., Dhanasekaran, Saravana M., Rodriguez, Henry, Robles, Ana I., Lazar, Alexander J., Aguet, François, Cantley, Lewis C., Ding, Li, and Getz, Gad
Published: 2023
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24. Proteogenomic data and resources for pan-cancer analysis

Author: Lazar, Alexander J., Paulovich, Amanda G., Colaprico, Antonio, Iavarone, Antonio, Chinnaiyan, Arul M., Druker, Brian J., Kumar-Sinha, Chandan, Newton, Chelsea J., Huang, Chen, Mani, D.R., Smith, Richard D., Huntsman, Emily, Schadt, Eric E., An, Eunkyung, Petralia, Francesca, Hostetter, Galen, Omenn, Gilbert S., Cho, Hanbyul, Rodriguez, Henry, Zhang, Hui, Kolodziejczak, Iga, Johnson, Jared L., Bavarva, Jasmin, Tan, Jimin, Rodland, Karin D., Clauser, Karl R., Krug, Karsten, Cantley, Lewis C., Wiznerowicz, Maciej, Ellis, Matthew J., Anurag, Meenakshi, Mesri, Mehdi, Gillette, Michael A., Birrer, Michael J., Ceccarelli, Michele, Dhanasekaran, Saravana M., Edwards, Nathan, Tignor, Nicole, Babur, Özgün, Pugliese, Pietro, Gosline, Sara J.C., Jewell, Scott D., Satpathy, Shankha, Chowdhury, Shrabanti, Schürer, Stephan, Carr, Steven A., Liu, Tao, Hiltke, Tara, Yaron, Tomer M., Stathias, Vasileios, Liu, Wenke, Zhang, Xu, Song, Yizhe, Zhang, Zhen, Chan, Daniel W., Li, Yize, Dou, Yongchao, Da Veiga Leprevost, Felipe, Geffen, Yifat, Calinawan, Anna P., Aguet, François, Akiyama, Yo, Anand, Shankara, Birger, Chet, Cao, Song, Chaudhary, Rekha, Chilappagari, Padmini, Cieslik, Marcin, Zhou, Daniel Cui, Day, Corbin, Domagalski, Marcin J., Esai Selvan, Myvizhi, Fenyö, David, Foltz, Steven M., Francis, Alicia, Gonzalez-Robles, Tania, Gümüş, Zeynep H., Heiman, David, Holck, Michael, Hong, Runyu, Hu, Yingwei, Jaehnig, Eric J., Ji, Jiayi, Jiang, Wen, Katsnelson, Lizabeth, Ketchum, Karen A., Klein, Robert J., Lei, Jonathan T., Liang, Wen-Wei, Liao, Yuxing, Lindgren, Caleb M., Ma, Weiping, Ma, Lei, MacCoss, Michael J., Martins Rodrigues, Fernanda, McKerrow, Wilson, Nguyen, Ngoc, Oldroyd, Robert, Pilozzi, Alexander, Reva, Boris, Rudnick, Paul, Ruggles, Kelly V., Rykunov, Dmitry, Savage, Sara R., Schnaubelt, Michael, Schraink, Tobias, Shi, Zhiao, Singhal, Deepak, Song, Xiaoyu, Storrs, Erik, Terekhanova, Nadezhda V., Thangudu, Ratna R., Thiagarajan, Mathangi, Wang, Liang-Bo, Wang, Joshua M., Wang, Ying, Wen, Bo, Wu, Yige, Wyczalkowski, Matthew A., Xin, Yi, Yao, Lijun, Yi, Xinpei, Zhang, Qing, Zuhl, Maya, Getz, Gad, Ding, Li, Nesvizhskii, Alexey I., Wang, Pei, Robles, Ana I., Zhang, Bing, and Payne, Samuel H.
Published: 2023
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25. Genomic analyses implicate noncoding de novo variants in congenital heart disease

Author: Richter, Felix, Morton, Sarah U, Kim, Seong Won, Kitaygorodsky, Alexander, Wasson, Lauren K, Chen, Kathleen M, Zhou, Jian, Qi, Hongjian, Patel, Nihir, DePalma, Steven R, Parfenov, Michael, Homsy, Jason, Gorham, Joshua M, Manheimer, Kathryn B, Velinder, Matthew, Farrell, Andrew, Marth, Gabor, Schadt, Eric E, Kaltman, Jonathan R, Newburger, Jane W, Giardini, Alessandro, Goldmuntz, Elizabeth, Brueckner, Martina, Kim, Richard, Porter, George A, Bernstein, Daniel, Chung, Wendy K, Srivastava, Deepak, Tristani-Firouzi, Martin, Troyanskaya, Olga G, Dickel, Diane E, Shen, Yufeng, Seidman, Jonathan G, Seidman, Christine E, and Gelb, Bruce D
Subjects: Biological Sciences, Genetics, Congenital Structural Anomalies, Heart Disease, Pediatric, Human Genome, Cardiovascular, Aetiology, 2.1 Biological and endogenous factors, Adolescent, Adult, Animals, Female, Genetic Predisposition to Disease, Genetic Variation, Genomics, Heart, Heart Defects, Congenital, Humans, Male, Mice, Middle Aged, Open Reading Frames, RNA, Untranslated, RNA-Binding Proteins, Transcription, Genetic, Young Adult, Medical and Health Sciences, Developmental Biology, Agricultural biotechnology, Bioinformatics and computational biology
Abstract: A genetic etiology is identified for one-third of patients with congenital heart disease (CHD), with 8% of cases attributable to coding de novo variants (DNVs). To assess the contribution of noncoding DNVs to CHD, we compared genome sequences from 749 CHD probands and their parents with those from 1,611 unaffected trios. Neural network prediction of noncoding DNV transcriptional impact identified a burden of DNVs in individuals with CHD (n = 2,238 DNVs) compared to controls (n = 4,177; P = 8.7 × 10-4). Independent analyses of enhancers showed an excess of DNVs in associated genes (27 genes versus 3.7 expected, P = 1 × 10-5). We observed significant overlap between these transcription-based approaches (odds ratio (OR) = 2.5, 95% confidence interval (CI) 1.1-5.0, P = 5.4 × 10-3). CHD DNVs altered transcription levels in 5 of 31 enhancers assayed. Finally, we observed a DNV burden in RNA-binding-protein regulatory sites (OR = 1.13, 95% CI 1.1-1.2, P = 8.8 × 10-5). Our findings demonstrate an enrichment of potentially disruptive regulatory noncoding DNVs in a fraction of CHD at least as high as that observed for damaging coding DNVs.
Published: 2020

26. Traversing industry and academia in biomedicine: the best of both worlds?

Author: Gilliland, D. Gary, Regev, Aviv, Schadt, Eric E., and Tung, Joyce
Published: 2022
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27. Impact of body mass index on the efficacy of aromatase inhibitors in patients with metastatic breast cancer

Author: Patel, Rima, Li, Zhiqiang, Zimmerman, Brittney S., Fink, Marc Y., Wells, Jason D., Zhou, Xiang, Ayers, Kristin, Redfern, Arielle, Newman, Scott, Schadt, Eric, Oh, William K., Chen, Rong, and Tiersten, Amy
Published: 2022
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28. An Integrated Taxonomy for Monogenic Inflammatory Bowel Disease

Author: Bolton, Chrissy, Smillie, Christopher S., Pandey, Sumeet, Elmentaite, Rasa, Wei, Gabrielle, Argmann, Carmen, Aschenbrenner, Dominik, James, Kylie R., McGovern, Dermot P.B., Macchi, Marina, Cho, Judy, Shouval, Dror S., Kammermeier, Jochen, Koletzko, Sibylle, Bagalopal, Krithika, Capitani, Melania, Cavounidis, Athena, Pires, Elisabete, Weidinger, Carl, McCullagh, James, Arkwright, Peter D., Haller, Wolfram, Siegmund, Britta, Peters, Lauren, Jostins, Luke, Travis, Simon P.L., Anderson, Carl A., Snapper, Scott, Klein, Christoph, Schadt, Eric, Zilbauer, Matthias, Xavier, Ramnik, Teichmann, Sarah, Muise, Aleixo M., Regev, Aviv, and Uhlig, Holm H.
Published: 2022
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29. Integrative Analysis of the Inflammatory Bowel Disease Serum Metabolome Improves Our Understanding of Genetic Etiology and Points to Novel Putative Therapeutic Targets

Author: Di'Narzo, Antonio F., Houten, Sander M., Kosoy, Roman, Huang, Ruiqi, Vaz, Frédéric M., Hou, Ruixue, Wei, Gabrielle, Wang, Wenhui, Comella, Phillip H., Dodatko, Tetyana, Rogatsky, Eduard, Stojmirovic, Aleksandar, Brodmerkel, Carrie, Perrigoue, Jacqueline, Hart, Amy, Curran, Mark, Friedman, Joshua R., Zhu, Jun, Agrawal, Manasi, Cho, Judy, Ungaro, Ryan, Dubinsky, Marla C., Sands, Bruce E., Suárez-Fariñas, Mayte, Schadt, Eric E., Colombel, Jean-Frédéric, Kasarskis, Andrew, Hao, Ke, and Argmann, Carmen
Published: 2022
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30. GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes.

Author: Franceschini, Nora, Giambartolomei, Claudia, de Vries, Paul S, Finan, Chris, Bis, Joshua C, Huntley, Rachael P, Lovering, Ruth C, Tajuddin, Salman M, Winkler, Thomas W, Graff, Misa, Kavousi, Maryam, Dale, Caroline, Smith, Albert V, Hofer, Edith, van Leeuwen, Elisabeth M, Nolte, Ilja M, Lu, Lingyi, Scholz, Markus, Sargurupremraj, Muralidharan, Pitkänen, Niina, Franzén, Oscar, Joshi, Peter K, Noordam, Raymond, Marioni, Riccardo E, Hwang, Shih-Jen, Musani, Solomon K, Schminke, Ulf, Palmas, Walter, Isaacs, Aaron, Correa, Adolfo, Zonderman, Alan B, Hofman, Albert, Teumer, Alexander, Cox, Amanda J, Uitterlinden, André G, Wong, Andrew, Smit, Andries J, Newman, Anne B, Britton, Annie, Ruusalepp, Arno, Sennblad, Bengt, Hedblad, Bo, Pasaniuc, Bogdan, Penninx, Brenda W, Langefeld, Carl D, Wassel, Christina L, Tzourio, Christophe, Fava, Cristiano, Baldassarre, Damiano, O'Leary, Daniel H, Teupser, Daniel, Kuh, Diana, Tremoli, Elena, Mannarino, Elmo, Grossi, Enzo, Boerwinkle, Eric, Schadt, Eric E, Ingelsson, Erik, Veglia, Fabrizio, Rivadeneira, Fernando, Beutner, Frank, Chauhan, Ganesh, Heiss, Gerardo, Snieder, Harold, Campbell, Harry, Völzke, Henry, Markus, Hugh S, Deary, Ian J, Jukema, J Wouter, de Graaf, Jacqueline, Price, Jacqueline, Pott, Janne, Hopewell, Jemma C, Liang, Jingjing, Thiery, Joachim, Engmann, Jorgen, Gertow, Karl, Rice, Kenneth, Taylor, Kent D, Dhana, Klodian, Kiemeney, Lambertus ALM, Lind, Lars, Raffield, Laura M, Launer, Lenore J, Holdt, Lesca M, Dörr, Marcus, Dichgans, Martin, Traylor, Matthew, Sitzer, Matthias, Kumari, Meena, Kivimaki, Mika, Nalls, Mike A, Melander, Olle, Raitakari, Olli, Franco, Oscar H, Rueda-Ochoa, Oscar L, Roussos, Panos, Whincup, Peter H, Amouyel, Philippe, and Giral, Philippe
Subjects: MEGASTROKE Consortium, Humans, Coronary Disease, Genetic Predisposition to Disease, Amino Acid Oxidoreductases, Protein-Lysine 6-Oxidase, Risk Factors, Lod Score, Polymorphism, Single Nucleotide, Quantitative Trait Loci, Genome-Wide Association Study, Plaque, Atherosclerotic, Carotid Intima-Media Thickness, ADAMTS9 Protein, Plaque, Atherosclerotic, Polymorphism, Single Nucleotide
Abstract: Carotid artery intima media thickness (cIMT) and carotid plaque are measures of subclinical atherosclerosis associated with ischemic stroke and coronary heart disease (CHD). Here, we undertake meta-analyses of genome-wide association studies (GWAS) in 71,128 individuals for cIMT, and 48,434 individuals for carotid plaque traits. We identify eight novel susceptibility loci for cIMT, one independent association at the previously-identified PINX1 locus, and one novel locus for carotid plaque. Colocalization analysis with nearby vascular expression quantitative loci (cis-eQTLs) derived from arterial wall and metabolic tissues obtained from patients with CHD identifies candidate genes at two potentially additional loci, ADAMTS9 and LOXL4. LD score regression reveals significant genetic correlations between cIMT and plaque traits, and both cIMT and plaque with CHD, any stroke subtype and ischemic stroke. Our study provides insights into genes and tissue-specific regulatory mechanisms linking atherosclerosis both to its functional genomic origins and its clinical consequences in humans.
Published: 2018

31. Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap

Author: Gandal, Michael J, Haney, Jillian R, Parikshak, Neelroop N, Leppa, Virpi, Ramaswami, Gokul, Hartl, Chris, Schork, Andrew J, Appadurai, Vivek, Buil, Alfonso, Werge, Thomas M, Liu, Chunyu, White, Kevin P, Horvath, Steve, Geschwind, Daniel H, Sestan, Nenad, Vaccarino, Flora, Gerstein, Mark, Weissman, Sherman, Pochareddy, Sirisha, State, Matthew, Knowles, James, Farnham, Peggy, Akbarian, Schahram, Pinto, Dalila, Van Baekl, Harm, Dracheva, Stella, Jaffe, Andrew, Hyde, Thomas, Zandi, Peter, Crawford, Gregory, Sullivan, Pat, Thompson, Wesley Kurt, Mortensen, Preben Bo, Agerbo, Esben, Pedersen, Marianne Giørtz, Pedersen, Carsten Bøcker, Mors, Ole, Børglum, Anders D, Nordentoft, Merete, Hougaard, David M, Bybjerg-Grauholm, Jonas, Bækvad-Hansen, Marie, Martin, Alicia R, Dumont, Ashley, Stevens, Christine, Churchhouse, Claire, Howrigan, Daniel P, Palmer, Duncan S, Robinson, Elise B, Satterstrom, Kyle F, Cerrato, Felecia, Huang, Hailiang, Goldstein, Jacqueline, Moran, Jennifer, Julian, Joanna Martin, Kimberly, Maller, Patrick, Chambert, Turley, Patrick, Walters, Raymond, Belliveau, Rich, Ripke, Stephan, Poterba, Timothy, Daly, Mark J, Neale, Benjamin, Fromer, Menachem, Roussos, Panos, Johnson, Jessica S, Shah, Hardik R, Mahajan, Milind C, Schadt, Eric, Haroutunian, Vahram, Ruderfer, Douglas M, Buxbaum, Joseph D, Sieberts, Solveig K, Dang, Kristen, Logsdon, Ben, Mangravite, Lara M, Peters, Mette, Gur, Raquel E, Hahn, Chang-Gyu, Devlin, Bernie, Klei, Lambertus L, Lewis, David, Lipska, Barbara, Hirai, Keisuke, Toyoshiba, Hiroyoshi, and Domenici, Enrico
Subjects: Biological Sciences, Biomedical and Clinical Sciences, Genetics, Biological Psychology, Psychology, Pharmacology and Pharmaceutical Sciences, Serious Mental Illness, Brain Disorders, Human Genome, Mental Health, Schizophrenia, Neurosciences, Bipolar Disorder, Depression, Mental Illness, 2.1 Biological and endogenous factors, Aetiology, Mental health, Good Health and Well Being, Cerebral Cortex, Gene Expression Profiling, Gene Expression Regulation, Genetic Predisposition to Disease, Humans, Mental Disorders, Multifactorial Inheritance, Nervous System Diseases, Polymorphism, Single Nucleotide, Transcription, Genetic, CommonMind Consortium, PsychENCODE Consortium, iPSYCH-BROAD Working Group, General Science & Technology
Abstract: The predisposition to neuropsychiatric disease involves a complex, polygenic, and pleiotropic genetic architecture. However, little is known about how genetic variants impart brain dysfunction or pathology. We used transcriptomic profiling as a quantitative readout of molecular brain-based phenotypes across five major psychiatric disorders-autism, schizophrenia, bipolar disorder, depression, and alcoholism-compared with matched controls. We identified patterns of shared and distinct gene-expression perturbations across these conditions. The degree of sharing of transcriptional dysregulation is related to polygenic (single-nucleotide polymorphism-based) overlap across disorders, suggesting a substantial causal genetic component. This comprehensive systems-level view of the neurobiological architecture of major neuropsychiatric illness demonstrates pathways of molecular convergence and specificity.
Published: 2018

32. Functional variants in the LRRK2 gene confer shared effects on risk for Crohns disease and Parkinsons disease.

Author: Hui, Ken, Fernandez-Hernandez, Heriberto, Hu, Jianzhong, Schaffner, Adam, Pankratz, Nathan, Hsu, Nai-Yun, Chuang, Ling-Shiang, Carmi, Shai, Villaverde, Nicole, Li, Xianting, Rivas, Manual, Levine, Adam, Bao, Xiuliang, Labrias, Philippe, Haritunians, Talin, Ruane, Darren, Gettler, Kyle, Chen, Ernie, Li, Dalin, Schiff, Elena, Pontikos, Nikolas, Barzilai, Nir, Brant, Steven, Bressman, Susan, Cheifetz, Adam, Clark, Lorraine, Daly, Mark, Desnick, Robert, Duerr, Richard, Katz, Seymour, Lencz, Todd, Myers, Richard, Ostrer, Harry, Ozelius, Laurie, Payami, Haydeh, Peter, Yakov, Rioux, John, Segal, Anthony, Scott, William, Silverberg, Mark, Vance, Jeffery, Ubarretxena-Belandia, Iban, Foroud, Tatiana, Atzmon, Gil, Peer, Itsik, Ioannou, Yiannis, McGovern, Dermot, Yue, Zhenyu, Schadt, Eric, Cho, Judy, and Peter, Inga
Subjects: Alleles, Autophagy, Crohn Disease, Cytoskeleton, Exome, Gene Frequency, Gene Regulatory Networks, Genetic Loci, Genetic Predisposition to Disease, Genetic Variation, Genome, Human, Humans, Leucine-Rich Repeat Serine-Threonine Protein Kinase-2, Macrophages, Odds Ratio, Open Reading Frames, Parkinson Disease, Phenotype, Reproducibility of Results, Risk Factors, Exome Sequencing
Abstract: Crohns disease (CD), a form of inflammatory bowel disease, has a higher prevalence in Ashkenazi Jewish than in non-Jewish European populations. To define the role of nonsynonymous mutations, we performed exome sequencing of Ashkenazi Jewish patients with CD, followed by array-based genotyping and association analysis in 2066 CD cases and 3633 healthy controls. We detected association signals in the LRRK2 gene that conferred risk for CD (N2081D variant, P = 9.5 × 10-10) or protection from CD (N551K variant, tagging R1398H-associated haplotype, P = 3.3 × 10-8). These variants affected CD age of onset, disease location, LRRK2 activity, and autophagy. Bayesian network analysis of CD patient intestinal tissue further implicated LRRK2 in CD pathogenesis. Analysis of the extended LRRK2 locus in 24,570 CD cases, patients with Parkinsons disease (PD), and healthy controls revealed extensive pleiotropy, with shared genetic effects between CD and PD in both Ashkenazi Jewish and non-Jewish cohorts. The LRRK2 N2081D CD risk allele is located in the same kinase domain as G2019S, a mutation that is the major genetic cause of familial and sporadic PD. Like the G2019S mutation, the N2081D variant was associated with increased kinase activity, whereas neither N551K nor R1398H variants on the protective haplotype altered kinase activity. We also confirmed that R1398H, but not N551K, increased guanosine triphosphate binding and hydrolyzing enzyme (GTPase) activity, thereby deactivating LRRK2. The presence of shared LRRK2 alleles in CD and PD provides refined insight into disease mechanisms and may have major implications for the treatment of these two seemingly unrelated diseases.
Published: 2018

33. A translational genomics approach identifies IL10RB as the top candidate gene target for COVID-19 susceptibility

Author: Voloudakis, Georgios, Vicari, James M., Venkatesh, Sanan, Hoffman, Gabriel E., Dobrindt, Kristina, Zhang, Wen, Beckmann, Noam D., Higgins, Christina A., Argyriou, Stathis, Jiang, Shan, Hoagland, Daisy, Gao, Lina, Corvelo, André, Cho, Kelly, Lee, Kyung Min, Bian, Jiantao, Lee, Jennifer S., Iyengar, Sudha K., Luoh, Shiuh-Wen, Akbarian, Schahram, Striker, Robert, Assimes, Themistocles L., Schadt, Eric E., Lynch, Julie A., Merad, Miriam, tenOever, Benjamin R., Charney, Alexander W., Brennand, Kristen J., Fullard, John F., and Roussos, Panos
Published: 2022
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34. Correction: The dynamic changes and sex differences of 147 immune-related proteins during acute COVID-19 in 580 individuals

Author: Butler-Laporte, Guillaume, Gonzalez-Kozlova, Edgar, Su, Chen-Yang, Zhou, Sirui, Nakanishi, Tomoko, Brunet-Ratnasingham, Elsa, Morrison, David, Laurent, Laetitia, Aflalo, Jonathan, Aflalo, Marc, Henry, Danielle, Chen, Yiheng, Carrasco-Zanini, Julia, Farjoun, Yossi, Pietzner, Maik, Kimchi, Nofar, Afrasiabi, Zaman, Rezk, Nardin, Bouab, Meriem, Petitjean, Louis, Guzman, Charlotte, Xue, Xiaoqing, Tselios, Chris, Vulesevic, Branka, Adeleye, Olumide, Abdullah, Tala, Almamlouk, Noor, Moussa, Yara, DeLuca, Chantal, Duggan, Naomi, Schurr, Erwin, Brassard, Nathalie, Durand, Madeleine, Del Valle, Diane Marie, Thompson, Ryan, Cedillo, Mario A., Schadt, Eric, Nie, Kai, Simons, Nicole W., Mouskas, Konstantinos, Zaki, Nicolas, Patel, Manishkumar, Xie, Hui, Harris, Jocelyn, Marvin, Robert, Cheng, Esther, Tuballes, Kevin, Argueta, Kimberly, Scott, Ieisha, Greenwood, Celia M. T., Paterson, Clare, Hinterberg, Michael, Langenberg, Claudia, Forgetta, Vincenzo, Mooser, Vincent, Marron, Thomas, Beckmann, Noam D., Kenigsberg, Ephraim, Charney, Alexander W., Kim-schulze, Seunghee, Merad, Miriam, Kaufmann, Daniel E., Gnjatic, Sacha, and Richards, J. Brent
Published: 2022
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35. The dynamic changes and sex differences of 147 immune-related proteins during acute COVID-19 in 580 individuals

Author: Butler-Laporte, Guillaume, Gonzalez-Kozlova, Edgar, Su, Chen-Yang, Zhou, Sirui, Nakanishi, Tomoko, Brunet-Ratnasingham, Elsa, Morrison, David, Laurent, Laetitia, Afilalo, Jonathan, Afilalo, Marc, Henry, Danielle, Chen, Yiheng, Carrasco-Zanini, Julia, Farjoun, Yossi, Pietzner, Maik, Kimchi, Nofar, Afrasiabi, Zaman, Rezk, Nardin, Bouab, Meriem, Petitjean, Louis, Guzman, Charlotte, Xue, Xiaoqing, Tselios, Chris, Vulesevic, Branka, Adeleye, Olumide, Abdullah, Tala, Almamlouk, Noor, Moussa, Yara, DeLuca, Chantal, Duggan, Naomi, Schurr, Erwin, Brassard, Nathalie, Durand, Madeleine, Del Valle, Diane Marie, Thompson, Ryan, Cedillo, Mario A., Schadt, Eric, Nie, Kai, Simons, Nicole W., Mouskas, Konstantinos, Zaki, Nicolas, Patel, Manishkumar, Xie, Hui, Harris, Jocelyn, Marvin, Robert, Cheng, Esther, Tuballes, Kevin, Argueta, Kimberly, Scott, Ieisha, Greenwood, Celia M. T., Paterson, Clare, Hinterberg, Michael, Langenberg, Claudia, Forgetta, Vincenzo, Mooser, Vincent, Marron, Thomas, Beckmann, Noam, Kenigsberg, Ephraim, Charney, Alexander W., Kim-schulze, Seunghee, Merad, Miriam, Kaufmann, Daniel E., Gnjatic, Sacha, and Richards, J Brent
Published: 2022
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36. Integrative network analysis of early-stage lung adenocarcinoma identifies aurora kinase inhibition as interceptor of invasion and progression

Author: Yoo, Seungyeul, Sinha, Abhilasha, Yang, Dawei, Altorki, Nasser K., Tandon, Radhika, Wang, Wenhui, Chavez, Deebly, Lee, Eunjee, Patel, Ayushi S., Sato, Takashi, Kong, Ranran, Ding, Bisen, Schadt, Eric E., Watanabe, Hideo, Massion, Pierre P., Borczuk, Alain C., Zhu, Jun, and Powell, Charles A.
Published: 2022
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37. Improving preeclampsia risk prediction by modeling pregnancy trajectories from routinely collected electronic medical record data

Author: Li, Shilong, Wang, Zichen, Vieira, Luciana A., Zheutlin, Amanda B., Ru, Boshu, Schadt, Emilio, Wang, Pei, Copperman, Alan B., Stone, Joanne L., Gross, Susan J., Kao, Yu-Han, Lau, Yan Kwan, Dolan, Siobhan M., Schadt, Eric E., and Li, Li
Published: 2022
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38. Late preterm antenatal corticosteroids in singleton and twin gestations: a retrospective cohort study

Author: Vieira, Luciana A., Kao, Yu-Han, Tsevdos, Despina S., Lau, Yan Kwan, Wang, Zichen, Li, Shilong, Zheutlin, Amanda B., Gross, Susan J., Stone, Joanne L., Dolan, Siobhan M., Schadt, Eric E., and Li, Li
Published: 2022
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39. Divergent landscapes of A-to-I editing in postmortem and living human brain

Author: Rodriguez de los Santos, Miguel, primary, Kopell, Brian H, additional, Buxbaum Grice, Ariela, additional, Ganesh, Gauri, additional, Yang, Andy, additional, Amini, Pardis, additional, Liharska, Lora E, additional, Vornholt, Eric, additional, Fullard, John F, additional, Dong, Pengfei, additional, Park, Eric, additional, Zipkowitz, Sarah, additional, Kaji, Deepak A, additional, Thompson, Ryan C, additional, Liu, Donjing, additional, Park, You Jeong, additional, Cheng, Esther, additional, Ziafat, Kimia, additional, Moya, Emily, additional, Fennessy, Brian, additional, Wilkins, Lillian, additional, Silk, Hannah, additional, Linares, Lisa M, additional, Sullivan, Brendan, additional, Cohen, Vanessa, additional, Kota, Prashant, additional, Feng, Claudia, additional, Johnson, Jessica S, additional, Rieder, Marysia Kolbe, additional, Scarpa, Joseph, additional, Nadkarni, Girish N, additional, Wang, Minghui, additional, Zhang, Bin, additional, Sklar, Pamela, additional, Beckmann, Noam D, additional, Schadt, Eric E, additional, Roussos, Panos, additional, Charney, Alexander W, additional, and Breen, Michael S, additional
Published: 2024
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40. A library of induced pluripotent stem cells from clinically well-characterized, diverse healthy human individuals

Author: Schaniel, Christoph, Dhanan, Priyanka, Hu, Bin, Xiong, Yuguang, Raghunandan, Teeya, Gonzalez, David M., Dariolli, Rafael, D'Souza, Sunita L., Yadaw, Arjun S., Hansen, Jens, Jayaraman, Gomathi, Mathew, Bino, Machado, Moara, Berger, Seth I., Tripodi, Joseph, Najfeld, Vesna, Garg, Jalaj, Miller, Marc, Surlyn, Colleen S., Michelis, Katherine C., Tangirala, Neelima C., Weerahandi, Himali, Thomas, David C., Beaumont, Kristin G., Sebra, Robert, Mahajan, Milind, Schadt, Eric, Vidovic, Dusica, Schürer, Stephan C., Goldfarb, Joseph, Azeloglu, Evren U., Birtwistle, Marc R., Sobie, Eric A., Kovacic, Jason C., Dubois, Nicole C., and Iyengar, Ravi
Published: 2021
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41. Molecular Characterization of Limited Ulcerative Colitis Reveals Novel Biology and Predictors of Disease Extension

Author: Argmann, Carmen, Tokuyama, Minami, Ungaro, Ryan C., Huang, Ruiqi, Hou, Ruixue, Gurunathan, Sakteesh, Kosoy, Roman, Di’Narzo, Antonio, Wang, Wenhui, Losic, Bojan, Irizar, Haritz, Peters, Lauren, Stojmirovic, Aleksandar, Wei, Gabrielle, Comella, Phillip H., Curran, Mark, Brodmerkel, Carrie, Friedman, Joshua R., Hao, Ke, Schadt, Eric E., Zhu, Jun, Cho, Judy, Harpaz, Noam, Dubinsky, Marla C., Sands, Bruce E., Kasarskis, Andrew, Mehandru, Saurabh, Colombel, Jean-Frederic, and Suárez-Fariñas, Mayte
Published: 2021
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42. SARS-CoV-2 susceptibility and COVID-19 disease severity are associated with genetic variants affecting gene expression in a variety of tissues

Author: Neale, Benjamin M., Daly, Mark, Ganna, Andrea, Stevens, Christine, Pathak, Gita A., Andrews, Shea J., Kanai, Masahiro, Cordioli, Mattia, Karjalainen, Juha, Polimanti, Renato, Pirinen, Matti, Harerimana, Nadia, Veerapen, Kumar, Wolford, Brooke, Nguyen, Huy, Solomonson, Matthew, Liao, Rachel G., Chwialkowska, Karolina, Trankiem, Amy, Balaconis, Mary K., Hayward, Caroline, Richmond, Anne, Campbell, Archie, Morris, Marcela, Fawns-Ritchie, Chloe, Glessner, Joseph T., Shaw, Douglas M., Chang, Xiao, Polikowski, Hannah, Lauren, Petty E., Chen, Hung-Hsin, Wanying, Zhu, Hakonarson, Hakon, Porteous, David J., Below, Jennifer, North, Kari, McCormick, Joseph B., Timmers, Paul R.H.J., Wilson, James F., Tenesa, Albert, D’Mellow, Kenton, Kerr, Shona M., Niemi, Mari E.K., Nkambul, Lindokuhle, Aprile von Hohenstaufen, Kathrin, Sobh, Ali, Eltoukhy, Madonna M., Yassen, Amr M., Hegazy, Mohamed A.F., Okasha, Kamal, Eid, Mohammed A., Moahmed, Hanteera S., Shahin, Doaa, El-Sherbiny, Yasser M., Elhadidy, Tamer A., Abd Elghafar, Mohamed S., El-Jawhari, Jehan J., Mohamed, Attia A.S., Elnagdy, Marwa H., Samir, Amr, Abdel-Aziz, Mahmoud, Khafaga, Walid T., El-Lawaty, Walaa M., Torky, Mohamed S., El-shanshory, Mohamed R., Batini, Chiara, Lee, Paul H., Shrine, Nick, Williams, Alexander T., Tobin, Martin D., Guyatt, Anna L., John, Catherine, Packer, Richard J., Ali, Altaf, Free, Robert C., Wang, Xueyang, Wain, Louise V., Hollox, Edward J., Venn, Laura D., Bee, Catherine E., Adams, Emma L., Niavarani, Ahmadreza, Sharififard, Bahareh, Aliannejad, Rasoul, Amirsavadkouhi, Ali, Naderpour, Zeinab, Tadi, Hengameh Ansari, Aleagha, Afshar Etemadi, Ahmadi, Saeideh, Mohseni Moghaddam, Seyed Behrooz, Adamsara, Alireza, Saeedi, Morteza, Abdollahi, Hamed, Hosseini, Abdolmajid, Chariyavilaskul, Pajaree, Chamnanphon, Monpat, Suttichet, Thitima B., Shotelersuk, Vorasuk, Pongpanich, Monnat, Phokaew, Chureerat, Chetruengchai, Wanna, Jantarabenjakul, Watsamon, Putchareon, Opass, Torvorapanit, Pattama, Puthanakit, Thanyawee, Suchartlikitwong, Pintip, Hirankarn, Nattiya, Nilaratanakul, Voraphoj, Sodsai, Pimpayao, Brumpton, Ben M., Hveem, Kristian, Willer, Cristen, Zhou, Wei, Rogne, Tormod, Solligard, Erik, Åsvold, Bjørn Olav, Abedalthagafi, Malak, Alaamery, Manal, Alqahtani, Saleh, Baraka, Dona, Al Harthi, Fawz, Alsolm, Ebtehal, Safieh, Leen Abu, Alowayn, Albandary M., Alqubaishi, Fatimah, Al Mutairi, Amal, Mangul, Serghei, Alshareef, Abdulraheem, Sawaji, Mona, Almutairi, Mansour, Aljawini, Nora, Albesher, Nour, Arabi, Yaseen M., Mahmoud, Ebrahim S., Khattab, Amin K., Halawani, Roaa T., Alahmadey, Ziab Z., Albakri, Jehad K., Felemban, Walaa A., Suliman, Bandar A., Hasanato, Rana, Al-Awdah, Laila, Alghamdi, Jahad, AlZahrani, Deema, AlJohani, Sameera, Al-Afghani, Hani, Alrashed, May, AlDhawi, Nouf, AlBardis, Hadeel, Alkwai, Sarah, Alswailm, Moneera, Almalki, Faisal, Albeladi, Maha, Almohammed, Iman, Barhoush, Eman, Albader, Anoud, Massadeh, Salam, AlMalik, Abdulaziz, Alotaibi, Sara, Alghamdi, Bader, Jung, Junghyun, Fawzy, Mohammad S., Lee, Yunsung, Magnus, Per, Trogstad, Lill-Iren S., Helgeland, Øyvind, Harris, Jennifer R., Mangino, Massimo, Spector, Tim D., Emma, Duncan, Smieszek, Sandra P., Przychodzen, Bartlomiej P., Polymeropoulos, Christos, Polymeropoulos, Vasilios, Polymeropoulos, Mihael H., Fernandez-Cadenas, Israel, Perez-Tur, Jordi, Llucià-Carol, Laia, Cullell, Natalia, Muiño, Elena, Cárcel-Márquez, Jara, DeDiego, Marta L., Iglesias, Lara Lloret, Planas, Anna M., Soriano, Alex, Rico, Veronica, Agüero, Daiana, Bedini, Josep L., Lozano, Francisco, Domingo, Carlos, Robles, Veronica, Ruiz-Jaén, Francisca, Márquez, Leonardo, Gomez, Juan, Coto, Eliecer, Albaiceta, Guillermo M., García-Clemente, Marta, Dalmau, David, Arranz, Maria J., Dietl, Beatriz, Serra-Llovich, Alex, Soler, Pere, Colobrán, Roger, Martín-Nalda, Andrea, Martínez, Alba Parra, Bernardo, David, Rojo, Silvia, Fiz-López, Aida, Arribas, Elisa, Cal-Sabater, Paloma de la, Segura, Tomás, González-Villa, Esther, Serrano-Heras, Gemma, Martí-Fàbregas, Joan, Jiménez-Xarrié, Elena, de Felipe Mimbrera, Alicia, Masjuan, Jaime, García-Madrona, Sebastian, Domínguez-Mayoral, Anna, Villalonga, Joan Montaner, Menéndez-Valladares, Paloma, Chasman, Daniel I., Buring, Julie E., Ridker, Paul M., Franco, Giulianini, Sesso, Howard D., Manson, JoAnn E., Glessner, Joseph R., Medina-Gomez, Carolina, Uitterlinden, Andre G., Ikram, M. Arfan, Kristiansson, Kati, Koskelainen, Sami, Perola, Markus, Donner, Kati, Kivinen, Katja, Palotie, Aarno, Ripatti, Samuli, Ruotsalainen, Sanni, Kaunisto, Mari, FinnGen, Nakanishi, Tomoko, Butler-Laporte, Guillaume, Forgetta, Vincenzo, Morrison, David R., Ghosh, Biswarup, Laurent, Laetitia, Belisle, Alexandre, Henry, Danielle, Abdullah, Tala, Adeleye, Olumide, Mamlouk, Noor, Kimchi, Nofar, Afrasiabi, Zaman, Branka Vulesevic, Nardin Rezk, Bouab, Meriem, Guzman, Charlotte, Petitjean, Louis, Tselios, Chris, Xue, Xiaoqing, Schurr, Erwin, Afilalo, Jonathan, Afilalo, Marc, Oliveira, Maureen, Brenner, Bluma, Lepage, Pierre, Ragoussis, Jiannis, Auld, Daniel, Brassard, Nathalie, Durand, Madeleine, Chassé, Michaël, Kaufmann, Daniel E., Lathrop, G. Mark, Mooser, Vincent, Richards, J. Brent, Li, Rui, Adra, Darin, Rahmouni, Souad, Georges, Michel, Moutschen, Michel, Misset, Benoit, Darcis, Gilles, Guiot, Julien, Guntz, Julien, Azarzar, Samira, Gofflot, Stéphanie, Beguin, Yves, Claassen, Sabine, Malaise, Olivier, Huynen, Pascale, Meuris, Christelle, Thys, Marie, Jacques, Jessica, Léonard, Philippe, Frippiat, Frederic, Giot, Jean-Baptiste, Sauvage, Anne-Sophie, Von Frenckell, Christian, Belhaj, Yasmine, Lambermont, Bernard, Pigazzini, Sara, Nkambule, Lindokuhle, Daya, Michelle, Shortt, Jonathan, Rafaels, Nicholas, Wicks, Stephen J., Crooks, Kristy, Barnes, Kathleen C., Gignoux, Christopher R., Chavan, Sameer, Laisk, Triin, Läll, Kristi, Lepamets, Maarja, Mägi, Reedik, Esko, Tõnu, Reimann, Ene, Milani, Lili, Alavere, Helene, Metsalu, Kristjan, Puusepp, Mairo, Metspalu, Andres, Naaber, Paul, Laane, Edward, Pesukova, Jaana, Peterson, Pärt, Kisand, Kai, Tabri, Jekaterina, Allos, Raili, Hensen, Kati, Starkopf, Joel, Ringmets, Inge, Tamm, Anu, Kallaste, Anne, Bochud, Pierre-Yves, Rivolta, Carlo, Bibert, Stéphanie, Quinodoz, Mathieu, Kamdar, Dhryata, Boillat, Noémie, Nussle, Semira Gonseth, Albrich, Werner, Suh, Noémie, Neofytos, Dionysios, Erard, Véronique, Voide, Cathy, FHoGID, RegCOVID, P-PredictUs, SeroCOVID, CRiPSI, de Cid, Rafael, Galván-Femenía, Iván, Blay, Natalia, Carreras, Anna, Cortés, Beatriz, Farré, Xavier, Sumoy, Lauro, Moreno, Victor, Mercader, Josep Maria, Guindo-Martinez, Marta, Torrents, David, Kogevinas, Manolis, Garcia-Aymerich, Judith, Castaño-Vinyals, Gemma, Dobaño, Carlota, Renieri, Alessandra, Mari, Francesca, Fallerini, Chiara, Daga, Sergio, Benetti, Elisa, Baldassarri, Margherita, Fava, Francesca, Frullanti, Elisa, Valentino, Floriana, Doddato, Gabriella, Giliberti, Annarita, Tita, Rossella, Amitrano, Sara, Bruttini, Mirella, Croci, Susanna, Meloni, Ilaria, Mencarelli, Maria Antonietta, Lo Rizzo, Caterina, Pinto, Anna Maria, Beligni, Giada, Tommasi, Andrea, Di Sarno, Laura, Palmieri, Maria, Carriero, Miriam Lucia, Alaverdian, Diana, Busani, Stefano, Bruno, Raffaele, Vecchia, Marco, Belli, Mary Ann, Picchiotti, Nicola, Sanarico, Maurizio, Gori, Marco, Furini, Simone, Mantovani, Stefania, Ludovisi, Serena, Mondelli, Mario Umberto, Castelli, Francesco, Quiros-Roldan, Eugenia, Antoni, Melania Degli, Zanella, Isabella, Vaghi, Massimo, Rusconi, Stefano, Siano, Matteo, Montagnani, Francesca, Emiliozzi, Arianna, Fabbiani, Massimiliano, Rossetti, Barbara, Bargagli, Elena, Bergantini, Laura, D’Alessandro, Miriana, Cameli, Paolo, Bennett, David, Anedda, Federico, Marcantonio, Simona, Scolletta, Sabino, Franchi, Federico, Mazzei, Maria Antonietta, Guerrini, Susanna, Conticini, Edoardo, Cantarini, Luca, Frediani, Bruno, Tacconi, Danilo, Spertilli, Chiara, Feri, Marco, Donati, Alice, Scala, Raffaele, Guidelli, Luca, Spargi, Genni, Corridi, Marta, Nencioni, Cesira, Croci, Leonardo, Bandini, Maria, Caldarelli, Gian Piero, Piacentini, Paolo, Desanctis, Elena, Cappelli, Silvia, Canaccini, Anna, Verzuri, Agnese, Anemoli, Valentina, Ognibene, Agostino, Pancrazzi, Alessandro, Lorubbio, Maria, D’Arminio Monforte, Antonella, Miraglia, Federica Gaia, Girardis, Massimo, Venturelli, Sophie, Cossarizza, Andrea, Antinori, Andrea, Vergori, Alessandra, Gabrieli, Arianna, Riva, Agostino, Francisci, Daniela, Schiaroli, Elisabetta, Paciosi, Francesco, Scotton, Pier Giorgio, Andretta, Francesca, Panese, Sandro, Scaggiante, Renzo, Gatti, Francesca, Parisi, Saverio Giuseppe, Baratti, Stefano, Della Monica, Matteo, Piscopo, Carmelo, Capasso, Mario, Russo, Roberta, Andolfo, Immacolata, Iolascon, Achille, Fiorentino, Giuseppe, Carella, Massimo, Castori, Marco, Merla, Giuseppe, Squeo, Gabriella Maria, Aucella, Filippo, Raggi, Pamela, Marciano, Carmen, Perna, Rita, Bassetti, Matteo, Di Biagio, Antonio, Sanguinetti, Maurizio, Masucci, Luca, Valente, Serafina, Mandalà, Marco, Giorli, Alessia, Salerni, Lorenzo, Zucchi, Patrizia, Parravicini, Pierpaolo, Menatti, Elisabetta, Trotta, Tullio, Giannattasio, Ferdinando, Coiro, Gabriella, Lena, Fabio, Coviello, Domenico A., Mussini, Cristina, Martinelli, Enrico, Mancarella, Sandro, Tavecchia, Luisa, Crotti, Lia, Gabbi, Chiara, Rizzi, Marco, Maggiolo, Franco, Ripamonti, Diego, Bachetti, Tiziana, La Rovere, Maria Teresa, Sarzi-Braga, Simona, Bussotti, Maurizio, Ceri, Stefano, Pinoli, Pietro, Raimondi, Francesco, Biscarini, Filippo, Stella, Alessandra, Zguro, Kristina, Capitani, Katia, Suardi, Claudia, Dei, Simona, Parati, Gianfranco, Ravaglia, Sabrina, Artuso, Rosangela, Bottà, Giordano, Di Domenico, Paolo, Rancan, Ilaria, Francesco Bianchi, Antonio Perrella, Romani, Davide, Bergomi, Paola, Catena, Emanuele, Colombo, Riccardo, Tanfoni, Marco, Vincenti, Antonella, Ferri, Claudio, Grassi, Davide, Pessina, Gloria, Tumbarello, Mario, Di Pietro, Massimo, Sabrina, Ravaglia, Luchi, Sauro, Barbieri, Chiara, Acquilini, Donatella, Andreucci, Elena, Segala, Francesco Vladimiro, Tiseo, Giusy, Falcone, Marco, Lista, Mirjam, Poscente, Monica, De Vivo, Oreste, Petrocelli, Paola, Guarnaccia, Alessandra, Baroni, Silvia, Smith, Albert V., Boughton, Andrew P., Li, Kevin W., LeFaive, Jonathon, Annis, Aubrey, Justice, Anne E., Mirshahi, Tooraj, Chittoor, Geetha, Josyula, Navya Shilpa, Kosmicki, Jack A., Ferreira, Manuel A.R., Leader, Joseph B., Carey, Dave J., Gass, Matthew C., Horowitz, Julie E., Cantor, Michael N., Yadav, Ashish, Baras, Aris, Abecasis, Goncalo R., van Heel, David A., Hunt, Karen A., Mason, Dan, Huang, Qin Qin, Finer, Sarah, Genes & Health Research Team, Trivedi, Bhavi, Griffiths, Christopher J., Martin, Hilary C., Wright, John, Trembath, Richard C., Soranzo, Nicole, Zhao, Jing Hua, Butterworth, Adam S., Danesh, John, Di Angelantonio, Emanuele, Marike Boezen, Lude Franke, Deelen, Patrick, Claringbould, Annique, Lopera, Esteban, Warmerdam, Robert, Vonk, Judith.M., van Blokland, Irene, Lanting, Pauline, Ori, Anil P.S., Sebastian Zöllner, Brooke Wolford, Wang, Jiongming, Beck, Andrew, Peloso, Gina, Ho, Yuk-Lam, Sun, Yan V., Huffman, Jennifer E., O’Donnell, Christopher J., Cho, Kelly, Tsao, Phil, Gaziano, J. Michael, Nivard, Michel (M.G.), de geus, Eco (E.J.C.), Bartels, Meike, Hottenga, Jouke Jan, Weiss, Scott T., Karlson, Elizabeth W., Smoller, Jordan W., Green, Robert C., Anne Feng, Yen-Chen, Mercader, Josep, Murphy, Shawn N., Meigs, James B., Woolley, Ann E., Perez, Emma F., Rader, Daniel, Verma, Anurag, Ritchie, Marylyn D., Li, Binglan, Verma, Shefali S., Lucas, Anastasia, Bradford, Yuki, Zeberg, Hugo, Frithiof, Robert, Hultström, Michael, Lipcsey, Miklos, Nkambul, Lindo, Tardif, Nicolas, Rooyackers, Olav, Grip, Jonathan, Maricic, Tomislav, Karczewski, Konrad J., Atkinson, Elizabeth G., Tsuo, Kristin, Baya, Nikolas, Turley, Patrick, Gupta, Rahul, Callier, Shawneequa, Walters, Raymond K., Palmer, Duncan S., Sarma, Gopal, Cheng, Nathan, Lu, Wenhan, Bryant, Sam, Churchhouse, Claire, Cusick, Caroline, Goldstein, Jacqueline I., King, Daniel, Seed, Cotton, Finucane, Hilary, Martin, Alicia R., Satterstrom, F. Kyle, Wilson, Daniel J., Armstrong, Jacob, Rudkin, Justine K., Band, Gavin, Earle, Sarah G., Lin, Shang-Kuan, Arning, Nicolas, Crook, Derrick W., Wyllie, David H., O’Connell, Anne Marie, Spencer, Chris C.A., Koelling, Nils, Caulfield, Mark J., Scott, Richard H., Fowler, Tom, Moutsianas, Loukas, Kousathanas, Athanasios, Pasko, Dorota, Walker, Susan, Rendon, Augusto, Stuckey, Alex, Odhams, Christopher A., Rhodes, Daniel, Chan, Georgia, Arumugam, Prabhu, Ball, Catherine A., Hong, Eurie L., Rand, Kristin, Girshick, Ahna, Guturu, Harendra, Baltzell, Asher Haug, Roberts, Genevieve, Park, Danny, Coignet, Marie, McCurdy, Shannon, Knight, Spencer, Partha, Raghavendran, Rhead, Brooke, Zhang, Miao, Berkowitz, Nathan, Gaddis, Michael, Noto, Keith, Ruiz, Luong, Pavlovic, Milos, Sloofman, Laura G., Charney, Alexander W., Beckmann, Noam D., Schadt, Eric E., Jordan, Daniel M., Thompson, Ryan C., Gettler, Kyle, Abul-Husn, Noura S., Ascolillo, Steven, Buxbaum, Joseph D., Chaudhary, Kumardeep, Cho, Judy H., Itan, Yuval, Kenny, Eimear E., Belbin, Gillian M., Sealfon, Stuart C., Sebra, Robert P., Salib, Irene, Collins, Brett L., Levy, Tess, Britvan, Bari, Keller, Katherine, Tang, Lara, Peruggia, Michael, Hiester, Liam L., Niblo, Kristi, Aksentijevich, Alexandra, Labkowsky, Alexander, Karp, Avromie, Zlatopolsky, Menachem, Preuss, Michael, Loos, Ruth J.F., Nadkarni, Girish N., Do, Ron, Hoggart, Clive, Choi, Sam, Underwood, Slayton J., O’Reilly, Paul, Huckins, Laura M., Zyndorf, Marissa, D’Antonio, Matteo, Nguyen, Jennifer P., Arthur, Timothy D., Matsui, Hiroko, D’Antonio-Chronowska, Agnieszka, and Frazer, Kelly A.
Published: 2021
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43. Proteogenomic characterization of pancreatic ductal adenocarcinoma

Author: Amin, Mitual, An, Eunkyung, Ayad, Christina, Bauer, Thomas, Birger, Chet, Birrer, Michael J., Boca, Simina M., Bocik, William, Borucki, Melissa, Cai, Shuang, Carr, Steven A., Cerda, Sandra, Chen, Huan, Chen, Steven, Chesla, David, Chinnaiyan, Arul M., Colaprico, Antonio, Cottingham, Sandra, Derejska, Magdalena, Dhanasekaran, Saravana M., Domagalski, Marcin J., Druker, Brian J., Duffy, Elizabeth, Dyer, Maureen A., Edwards, Nathan J., Ellis, Matthew J., Eschbacher, Jennifer, Francis, Alicia, Francis, Jesse, Gabriel, Stacey, Gabrovski, Nikolay, Gardner, Johanna, Getz, Gad, Gillette, Michael A., Goldthwaite, Charles A., Jr., Grady, Pamela, Guo, Shuai, Hariharan, Pushpa, Hiltke, Tara, Hindenach, Barbara, Hoadley, Katherine A., Huang, Jasmine, Jones, Corbin D., Ketchum, Karen A., Kinsinger, Christopher R., Koziak, Jennifer M., Kusnierz, Katarzyna, Liu, Tao, Long, Jiang, Mallery, David, Mareedu, Sailaja, Matteotti, Ronald, Maunganidze, Nicollette, McGarvey, Peter B., Minoo, Parham, Paklina, Oxana V., Paulovich, Amanda G., Payne, Samuel H., Potapova, Olga, Pruetz, Barbara, Qi, Liqun, Roche, Nancy, Rodland, Karin D., Rohrer, Daniel C., Schadt, Eric E., Shabunin, Alexey V., Shelton, Troy, Shutack, Yvonne, Singh, Shilpi, Smith, Michael, Smith, Richard D., Sokoll, Lori J., Suh, James, Thangudu, Ratna R., Tsang, Shirley X., Um, Ki Sung, Valley, Dana R., Vatanian, Negin, Wang, Wenyi, Wilson, George D., Wiznerowicz, Maciej, Zhang, Zhen, Zhao, Grace, Cao, Liwei, Huang, Chen, Cui Zhou, Daniel, Hu, Yingwei, Lih, T. Mamie, Savage, Sara R., Krug, Karsten, Clark, David J., Schnaubelt, Michael, Chen, Lijun, da Veiga Leprevost, Felipe, Eguez, Rodrigo Vargas, Yang, Weiming, Pan, Jianbo, Wen, Bo, Dou, Yongchao, Jiang, Wen, Liao, Yuxing, Shi, Zhiao, Terekhanova, Nadezhda V., Cao, Song, Lu, Rita Jui-Hsien, Li, Yize, Liu, Ruiyang, Zhu, Houxiang, Ronning, Peter, Wu, Yige, Wyczalkowski, Matthew A., Easwaran, Hariharan, Danilova, Ludmila, Mer, Arvind Singh, Yoo, Seungyeul, Wang, Joshua M., Liu, Wenke, Haibe-Kains, Benjamin, Thiagarajan, Mathangi, Jewell, Scott D., Hostetter, Galen, Newton, Chelsea J., Li, Qing Kay, Roehrl, Michael H., Fenyö, David, Wang, Pei, Nesvizhskii, Alexey I., Mani, D.R., Omenn, Gilbert S., Boja, Emily S., Mesri, Mehdi, Robles, Ana I., Rodriguez, Henry, Bathe, Oliver F., Chan, Daniel W., Hruban, Ralph H., Ding, Li, Zhang, Bing, and Zhang, Hui
Published: 2021
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44. A proteogenomic portrait of lung squamous cell carcinoma

Author: Green, Alex, Molinolo, Alfredo, Francis, Alicia, Paulovich, Amanda G., Karnuta, Andrii, Colaprico, Antonio, Hindenach, Barbara, Pruetz, Barbara L., Kubisa, Bartosz, Druker, Brian J., Huynh, Carissa, Goldthwaite, Charles A., Jr., Birger, Chet, Kinsinger, Christopher R., Jones, Corbin D., Rohrer, Dan, Valley, Dana R., Chan, Daniel W., Chesla, David, Hansel, Donna, Ponomareva, Elena V., Duffy, Elizabeth, Burks, Eric, Schadt, Eric E., Fedorov, Eugene S., An, Eunkyung, Ding, Fei, Wilson, George D., Batra, Harsh, Zhang, Hui, Maas, Jennifer E., Eschbacher, Jennifer, Ketchum, Karen A., Rodland, Karin D., Hoadley, Katherine A., Suzuki, Kei, Um, Ki Sung, Qi, Liqun, Bernard, Lori, Wiznerowicz, Maciej, Wojtyś, Małgorzata, Domagalski, Marcin J., Ellis, Matthew J., Dyer, Maureen A., Borucki, Melissa, Anurag, Meenakshi, Birrer, Michael J., Xu, Midie, Krotevich, Mikhail, Roche, Nancy, Edwards, Nathan J., Vatanian, Negin, Mucci, Neil R., Maunganidze, Nicollette, Gabrovski, Nikolay, Potapova, Olga, Fadare, Oluwole, Grady, Pamela, McGarvey, Peter B., Hariharan, Pushpa, Thangudu, Ratna R., Montgomery, Rebecca, Pandurengan, Renganayaki, Smith, Richard D., Welsh, Robert J., Mareedu, Sailaja, Payne, Samuel H., Cottingham, Sandra, Singh, Shilpi, Tsang, Shirley X., Cai, Shuang, Gabriel, Stacey, Liu, Tao, Hiltke, Tara, Vashist, Tanmayi, Bauer, Thomas, Sovenko, Volodymyr, Tourtellotte, Warren G., Ma, Weiping, Bocik, William, Hasan, Wohaib, Jing, Xiaojun, Tang, Ximing, Liao, Yuxing, Yvonne, Shutack, Zhang, Zhen, Hanhan, Ziad, Satpathy, Shankha, Krug, Karsten, Jean Beltran, Pierre M., Savage, Sara R., Petralia, Francesca, Kumar-Sinha, Chandan, Dou, Yongchao, Reva, Boris, Kane, M. Harry, Avanessian, Shayan C., Vasaikar, Suhas V., Krek, Azra, Lei, Jonathan T., Jaehnig, Eric J., Omelchenko, Tatiana, Geffen, Yifat, Bergstrom, Erik J., Stathias, Vasileios, Christianson, Karen E., Heiman, David I., Cieslik, Marcin P., Cao, Song, Song, Xiaoyu, Ji, Jiayi, Liu, Wenke, Li, Kai, Wen, Bo, Li, Yize, Gümüş, Zeynep H., Selvan, Myvizhi Esai, Soundararajan, Rama, Visal, Tanvi H., Raso, Maria G., Parra, Edwin Roger, Babur, Özgün, Vats, Pankaj, Anand, Shankara, Schraink, Tobias, Cornwell, MacIntosh, Rodrigues, Fernanda Martins, Zhu, Houxiang, Mo, Chia-Kuei, Zhang, Yuping, da Veiga Leprevost, Felipe, Huang, Chen, Chinnaiyan, Arul M., Wyczalkowski, Matthew A., Omenn, Gilbert S., Newton, Chelsea J., Schurer, Stephan, Ruggles, Kelly V., Fenyö, David, Jewell, Scott D., Thiagarajan, Mathangi, Mesri, Mehdi, Rodriguez, Henry, Mani, Sendurai A., Udeshi, Namrata D., Getz, Gad, Suh, James, Li, Qing Kay, Hostetter, Galen, Paik, Paul K., Dhanasekaran, Saravana M., Govindan, Ramaswamy, Ding, Li, Robles, Ana I., Clauser, Karl R., Nesvizhskii, Alexey I., Wang, Pei, Carr, Steven A., Zhang, Bing, Mani, D.R., and Gillette, Michael A.
Published: 2021
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45. Surgical Methods for Cardiac Gene Delivery in Large Animals

Author: Katz, Michael G., primary, Hadas, Yoav, additional, Vincek, Adam S., additional, Shtraizent, Nataly, additional, Gordon, Hylton P., additional, Pastuszko, Peter, additional, Schadt, Eric, additional, and Eliyahu, Efrat, additional
Published: 2022
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46. Cardiac Targeted Adeno-Associated Virus Injection in Rats

Author: Katz, Michael G., primary, Hadas, Yoav, additional, Vincek, Adam S., additional, Shtraizent, Nataly, additional, Schadt, Eric, additional, and Eliyahu, Efrat, additional
Published: 2022
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47. Proteogenomic and metabolomic characterization of human glioblastoma

Author: Agarwal, Anupriya, Amin, Mitual, An, Eunkyung, Anderson, Matthew L., Andrews, David W., Bauer, Thomas, Birger, Chet, Birrer, Michael J., Blumenberg, Lili, Bocik, William E., Borate, Uma, Borucki, Melissa, Burke, Meghan C., Cai, Shuang, Calinawan, Anna P., Carr, Steven A., Cerda, Sandra, Chan, Daniel W., Charamut, Alyssa, Chen, Lin S., Chesla, David, Chinnaiyan, Arul M., Chowdhury, Shrabanti, Cieślik, Marcin P., Clark, David J., Culpepper, Houston, Czernicki, Tomasz, D'Angelo, Fulvio, Day, Jacob, De Young, Stephanie, Demir, Emek, Dhanasekaran, Saravana Mohan, Dhir, Rajiv, Domagalski, Marcin J., Druker, Brian, Duffy, Elizabeth, Dyer, Maureen, Edwards, Nathan J., Edwards, Robert, Elburn, Kimberly, Ellis, Matthew J., Eschbacher, Jennifer, Francis, Alicia, Gabriel, Stacey, Gabrovski, Nikolay, Garofano, Luciano, Getz, Gad, Gillette, Michael A., Godwin, Andrew K., Golbin, Denis, Hanhan, Ziad, Hannick, Linda I., Hariharan, Pushpa, Hindenach, Barbara, Hoadley, Katherine A., Hostetter, Galen, Huang, Chen, Jaehnig, Eric, Jewell, Scott D., Ji, Nan, Jones, Corbin D., Karz, Alcida, Kaspera, Wojciech, Kim, Lyndon, Kothadia, Ramani B., Kumar-Sinha, Chandan, Lei, Jonathan, Leprevost, Felipe D., Li, Kai, Liao, Yuxing, Lilly, Jena, Liu, Hongwei, Lubínski, Jan, Madan, Rashna, Maggio, William, Malc, Ewa, Malovannaya, Anna, Mareedu, Sailaja, Markey, Sanford P., Marrero-Oliveras, Annette, Martinez, Nina, Maunganidze, Nicollette, McDermott, Jason E., McGarvey, Peter B., McGee, John, Mieczkowski, Piotr, Migliozzi, Simona, Modugno, Francesmary, Montgomery, Rebecca, Newton, Chelsea J., Omenn, Gilbert S., Ozbek, Umut, Paklina, Oxana V., Paulovich, Amanda G., Perou, Amy M., Pico, Alexander R., Piehowski, Paul D., Placantonakis, Dimitris G., Polonskaya, Larisa, Potapova, Olga, Pruetz, Barbara, Qi, Liqun, Ramkissoon, Shakti, Resnick, Adam, Richey, Shannon, Riggins, Gregory, Robinson, Karna, Roche, Nancy, Rohrer, Daniel C., Rood, Brian R., Rossell, Larissa, Savage, Sara R., Schadt, Eric E., Shi, Yan, Shi, Zhiao, Shutack, Yvonne, Singh, Shilpi, Skelly, Tara, Sokoll, Lori J., Stawicki, Jakub, Stein, Stephen E., Suh, James, Szopa, Wojciech, Tabor, Dave, Tan, Donghui, Tansil, Darlene, Thangudu, Ratna R., Tognon, Cristina, Traer, Elie, Tsang, Shirley, Tyner, Jeffrey, Um, Ki Sung, Valley, Dana R., Vasaikar, Suhas, Vatanian, Negin, Velvulou, Uma, Vernon, Michael, Wan, Weiqing, Wang, Junmei, Webster, Alex, Wen, Bo, Whiteaker, Jeffrey R., Wilson, George D., Zakhartsev, Yuriy, Zelt, Robert, Zhang, Hui, Zhang, Liwei, Zhang, Zhen, Zhao, Grace, Zhu, Jun, Wang, Liang-Bo, Karpova, Alla, Gritsenko, Marina A., Kyle, Jennifer E., Cao, Song, Li, Yize, Rykunov, Dmitry, Colaprico, Antonio, Rothstein, Joseph H., Hong, Runyu, Stathias, Vasileios, Cornwell, MacIntosh, Petralia, Francesca, Wu, Yige, Reva, Boris, Krug, Karsten, Pugliese, Pietro, Kawaler, Emily, Olsen, Lindsey K., Liang, Wen-Wei, Song, Xiaoyu, Dou, Yongchao, Wendl, Michael C., Caravan, Wagma, Liu, Wenke, Cui Zhou, Daniel, Ji, Jiayi, Tsai, Chia-Feng, Petyuk, Vladislav A., Moon, Jamie, Ma, Weiping, Chu, Rosalie K., Weitz, Karl K., Moore, Ronald J., Monroe, Matthew E., Zhao, Rui, Yang, Xiaolu, Yoo, Seungyeul, Krek, Azra, Demopoulos, Alexis, Zhu, Houxiang, Wyczalkowski, Matthew A., McMichael, Joshua F., Henderson, Brittany L., Lindgren, Caleb M., Boekweg, Hannah, Lu, Shuangjia, Baral, Jessika, Yao, Lijun, Stratton, Kelly G., Bramer, Lisa M., Zink, Erika, Couvillion, Sneha P., Bloodsworth, Kent J., Satpathy, Shankha, Sieh, Weiva, Boca, Simina M., Schürer, Stephan, Chen, Feng, Wiznerowicz, Maciej, Ketchum, Karen A., Boja, Emily S., Kinsinger, Christopher R., Robles, Ana I., Hiltke, Tara, Thiagarajan, Mathangi, Nesvizhskii, Alexey I., Zhang, Bing, Mani, D.R., Ceccarelli, Michele, Chen, Xi S., Cottingham, Sandra L., Li, Qing Kay, Kim, Albert H., Fenyö, David, Ruggles, Kelly V., Rodriguez, Henry, Mesri, Mehdi, Payne, Samuel H., Resnick, Adam C., Wang, Pei, Smith, Richard D., Iavarone, Antonio, Chheda, Milan G., Barnholtz-Sloan, Jill S., Rodland, Karin D., Liu, Tao, and Ding, Li
Published: 2021
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48. Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry

Author: Graff, Mariaelisa, Justice, Anne E., Young, Kristin L., Marouli, Eirini, Zhang, Xinruo, Fine, Rebecca S., Lim, Elise, Buchanan, Victoria, Rand, Kristin, Feitosa, Mary F., Wojczynski, Mary K., Yanek, Lisa R., Shao, Yaming, Rohde, Rebecca, Adeyemo, Adebowale A., Aldrich, Melinda C., Allison, Matthew A., Ambrosone, Christine B., Ambs, Stefan, Amos, Christopher, Arnett, Donna K., Atwood, Larry, Bandera, Elisa V., Bartz, Traci, Becker, Diane M., Berndt, Sonja I., Bernstein, Leslie, Bielak, Lawrence F., Blot, William J., Bottinger, Erwin P., Bowden, Donald W., Bradfield, Jonathan P., Brody, Jennifer A., Broeckel, Ulrich, Burke, Gregory, Cade, Brian E., Cai, Qiuyin, Caporaso, Neil, Carlson, Chris, Carpten, John, Casey, Graham, Chanock, Stephen J., Chen, Guanjie, Chen, Minhui, Chen, Yii-Der I., Chen, Wei-Min, Chesi, Alessandra, Chiang, Charleston W.K., Chu, Lisa, Coetzee, Gerry A., Conti, David V., Cooper, Richard S., Cushman, Mary, Demerath, Ellen, Deming, Sandra L., Dimitrov, Latchezar, Ding, Jingzhong, Diver, W. Ryan, Duan, Qing, Evans, Michele K., Falusi, Adeyinka G., Faul, Jessica D., Fornage, Myriam, Fox, Caroline, Freedman, Barry I., Garcia, Melissa, Gillanders, Elizabeth M., Goodman, Phyllis, Gottesman, Omri, Grant, Struan F.A., Guo, Xiuqing, Hakonarson, Hakon, Haritunians, Talin, Harris, Tamara B., Harris, Curtis C., Henderson, Brian E., Hennis, Anselm, Hernandez, Dena G., Hirschhorn, Joel N., McNeill, Lorna Haughton, Howard, Timothy D., Howard, Barbara, Hsing, Ann W., Hsu, Yu-Han H., Hu, Jennifer J., Huff, Chad D., Huo, Dezheng, Ingles, Sue A., Irvin, Marguerite R., John, Esther M., Johnson, Karen C., Jordan, Joanne M., Kabagambe, Edmond K., Kang, Sun J., Kardia, Sharon L., Keating, Brendan J., Kittles, Rick A., Klein, Eric A., Kolb, Suzanne, Kolonel, Laurence N., Kooperberg, Charles, Kuller, Lewis, Kutlar, Abdullah, Lange, Leslie, Langefeld, Carl D., Le Marchand, Loic, Leonard, Hampton, Lettre, Guillaume, Levin, Albert M., Li, Yun, Li, Jin, Liu, Yongmei, Liu, Youfang, Liu, Simin, Lohman, Kurt, Lotay, Vaneet, Lu, Yingchang, Maixner, William, Manson, JoAnn E., McKnight, Barbara, Meng, Yan, Monda, Keri L., Monroe, Kris, Moore, Jason H., Mosley, Thomas H., Mudgal, Poorva, Murphy, Adam B., Nadukuru, Rajiv, Nalls, Mike A., Nathanson, Katherine L., Nayak, Uma, N’Diaye, Amidou, Nemesure, Barbara, Neslund-Dudas, Christine, Neuhouser, Marian L., Nyante, Sarah, Ochs-Balcom, Heather, Ogundiran, Temidayo O., Ogunniyi, Adesola, Ojengbede, Oladosu, Okut, Hayrettin, Olopade, Olufunmilayo I., Olshan, Andrew, Padhukasahasram, Badri, Palmer, Julie, Palmer, Cameron D., Palmer, Nicholette D., Papanicolaou, George, Patel, Sanjay R., Pettaway, Curtis A., Peyser, Patricia A., Press, Michael F., Rao, D.C., Rasmussen-Torvik, Laura J., Redline, Susan, Reiner, Alex P., Rhie, Suhn K., Rodriguez-Gil, Jorge L., Rotimi, Charles N., Rotter, Jerome I., Ruiz-Narvaez, Edward A., Rybicki, Benjamin A., Salako, Babatunde, Sale, Michele M., Sanderson, Maureen, Schadt, Eric, Schreiner, Pamela J., Schurmann, Claudia, Schwartz, Ann G., Shriner, Daniel A., Signorello, Lisa B., Singleton, Andrew B., Siscovick, David S., Smith, Jennifer A., Smith, Shad, Speliotes, Elizabeth, Spitz, Margaret, Stanford, Janet L., Stevens, Victoria L., Stram, Alex, Strom, Sara S., Sucheston, Lara, Sun, Yan V., Tajuddin, Salman M., Taylor, Herman, Taylor, Kira, Tayo, Bamidele O., Thun, Michael J., Tucker, Margaret A., Vaidya, Dhananjay, Van Den Berg, David J., Vedantam, Sailaja, Vitolins, Mara, Wang, Zhaoming, Ware, Erin B., Wassertheil-Smoller, Sylvia, Weir, David R., Wiencke, John K., Williams, Scott M., Williams, L. Keoki, Wilson, James G., Witte, John S., Wrensch, Margaret, Wu, Xifeng, Yao, Jie, Zakai, Neil, Zanetti, Krista, Zemel, Babette S., Zhao, Wei, Zhao, Jing Hua, Zheng, Wei, Zhi, Degui, Zhou, Jie, Zhu, Xiaofeng, Ziegler, Regina G., Zmuda, Joe, Zonderman, Alan B., Psaty, Bruce M., Borecki, Ingrid B., Cupples, L. Adrienne, Liu, Ching-Ti, Haiman, Christopher A., Loos, Ruth, Ng, Maggie C.Y., and North, Kari E.
Published: 2021
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49. Deficiency of TYROBP, an adapter protein for TREM2 and CR3 receptors, is neuroprotective in a mouse model of early Alzheimers pathology.

Author: Haure-Mirande, Jean-Vianney, Audrain, Mickael, Fanutza, Tomas, Kim, Soong, Klein, William, Glabe, Charles, Readhead, Ben, Dudley, Joel, Blitzer, Robert, Wang, Minghui, Zhang, Bin, Schadt, Eric, Gandy, Sam, and Ehrlich, Michelle
Subjects: APP/PSEN1, Alzheimer’s disease, CR3 adapter, Microglia, TREM2 adapter, TYROBP/DAP12, Adaptor Proteins, Signal Transducing, Alzheimer Disease, Animals, Brain, Disease Models, Animal, Maze Learning, Mice, Mice, Knockout, Microglia, Mutation, Phosphorylation, tau Proteins
Abstract: Conventional genetic approaches and computational strategies have converged on immune-inflammatory pathways as key events in the pathogenesis of late onset sporadic Alzheimers disease (LOAD). Mutations and/or differential expression of microglial specific receptors such as TREM2, CD33, and CR3 have been associated with strong increased risk for developing Alzheimers disease (AD). DAP12 (DNAX-activating protein 12)/TYROBP, a molecule localized to microglia, is a direct partner/adapter for TREM2, CD33, and CR3. We and others have previously shown that TYROBP expression is increased in AD patients and in mouse models. Moreover, missense mutations in the coding region of TYROBP have recently been identified in some AD patients. These lines of evidence, along with computational analysis of LOAD brain gene expression, point to DAP12/TYROBP as a potential hub or driver protein in the pathogenesis of AD. Using a comprehensive panel of biochemical, physiological, behavioral, and transcriptomic assays, we evaluated in a mouse model the role of TYROBP in early stage AD. We crossed an Alzheimers model mutant APP KM670/671NL /PSEN1 Δexon9 (APP/PSEN1) mouse model with Tyrobp -/- mice to generate AD model mice deficient or null for TYROBP (APP/PSEN1; Tyrobp +/- or APP/PSEN1; Tyrobp -/-). While we observed relatively minor effects of TYROBP deficiency on steady-state levels of amyloid-β peptides, there was an effect of Tyrobp deficiency on the morphology of amyloid deposits resembling that reported by others for Trem2 -/- mice. We identified modulatory effects of TYROBP deficiency on the level of phosphorylation of TAU that was accompanied by a reduction in the severity of neuritic dystrophy. TYROBP deficiency also altered the expression of several AD related genes, including Cd33. Electrophysiological abnormalities and learning behavior deficits associated with APP/PSEN1 transgenes were greatly attenuated on a Tyrobp-null background. Some modulatory effects of TYROBP on Alzheimers-related genes were only apparent on a background of mice with cerebral amyloidosis due to overexpression of mutant APP/PSEN1. These results suggest that reduction of TYROBP gene expression and/or protein levels could represent an immune-inflammatory therapeutic opportunity for modulating early stage LOAD, potentially leading to slowing or arresting the progression to full-blown clinical and pathological LOAD.
Published: 2017

50. Association of Body Mass Index with DNA Methylation and Gene Expression in Blood Cells and Relations to Cardiometabolic Disease: A Mendelian Randomization Approach.

Author: Mendelson, Michael M, Marioni, Riccardo E, Joehanes, Roby, Liu, Chunyu, Hedman, Åsa K, Aslibekyan, Stella, Demerath, Ellen W, Guan, Weihua, Zhi, Degui, Yao, Chen, Huan, Tianxiao, Willinger, Christine, Chen, Brian, Courchesne, Paul, Multhaup, Michael, Irvin, Marguerite R, Cohain, Ariella, Schadt, Eric E, Grove, Megan L, Bressler, Jan, North, Kari, Sundström, Johan, Gustafsson, Stefan, Shah, Sonia, McRae, Allan F, Harris, Sarah E, Gibson, Jude, Redmond, Paul, Corley, Janie, Murphy, Lee, Starr, John M, Kleinbrink, Erica, Lipovich, Leonard, Visscher, Peter M, Wray, Naomi R, Krauss, Ronald M, Fallin, Daniele, Feinberg, Andrew, Absher, Devin M, Fornage, Myriam, Pankow, James S, Lind, Lars, Fox, Caroline, Ingelsson, Erik, Arnett, Donna K, Boerwinkle, Eric, Liang, Liming, Levy, Daniel, and Deary, Ian J
Subjects: Leukocytes, Humans, Obesity, Body Mass Index, Oligonucleotide Array Sequence Analysis, DNA Methylation, Gene Expression Regulation, Epigenesis, Genetic, Aged, Female, Male, Lipid Metabolism, Coronary Artery Disease, Genome-Wide Association Study, Mendelian Randomization Analysis, Epigenesis, Genetic, General & Internal Medicine, Medical and Health Sciences
Abstract: BackgroundThe link between DNA methylation, obesity, and adiposity-related diseases in the general population remains uncertain.Methods and findingsWe conducted an association study of body mass index (BMI) and differential methylation for over 400,000 CpGs assayed by microarray in whole-blood-derived DNA from 3,743 participants in the Framingham Heart Study and the Lothian Birth Cohorts, with independent replication in three external cohorts of 4,055 participants. We examined variations in whole blood gene expression and conducted Mendelian randomization analyses to investigate the functional and clinical relevance of the findings. We identified novel and previously reported BMI-related differential methylation at 83 CpGs that replicated across cohorts; BMI-related differential methylation was associated with concurrent changes in the expression of genes in lipid metabolism pathways. Genetic instrumental variable analysis of alterations in methylation at one of the 83 replicated CpGs, cg11024682 (intronic to sterol regulatory element binding transcription factor 1 [SREBF1]), demonstrated links to BMI, adiposity-related traits, and coronary artery disease. Independent genetic instruments for expression of SREBF1 supported the findings linking methylation to adiposity and cardiometabolic disease. Methylation at a substantial proportion (16 of 83) of the identified loci was found to be secondary to differences in BMI. However, the cross-sectional nature of the data limits definitive causal determination.ConclusionsWe present robust associations of BMI with differential DNA methylation at numerous loci in blood cells. BMI-related DNA methylation and gene expression provide mechanistic insights into the relationship between DNA methylation, obesity, and adiposity-related diseases.
Published: 2017

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