Heterozygous Germ Line hCHK2 Mutations in Li-Fraumeni Syndrome

by Bell, Daphne W., Varley, Jennifer M., Szydlo, Tara E., Kang, Deborah H., Doke C. R. Wahrer, Shannon, Kristen E., Lubratovich, Marcie, Verselis, Sigitas J., Isselbacher, Kurt J., Fraumeni, Joseph F., Birch, Jillian M., Li, Frederick P., Garber, Judy E., Haber, Daniel A.
Published in Science (American Association for the Advancement of Science)

Common nonsense mutations in RAD52

by BELL, D. W, WAHRER, D. C. R, KANG, D. H, MACMAHON, M. S, FITZGERALD, M. G, ISHIOKA, C, ISSELBACHER, K. J, KRAINER, M, HABER, D. A
Published in Cancer research (Chicago, Ill.)

Brief Preoperative Screening for Frailty and Cognitive Impairment Predicts Delirium after Spine Surgery

by Susano, Maria J, Grasfield, Rachel H, Friese, Matthew, Rosner, Bernard, Crosby, Gregory, Bader, Angela M, Kang, James D, Smith, Timothy R, Lu, Yi, Groff, Michael W, Chi, John H, Grodstein, Francine, Culley, Deborah J
Published in Anesthesiology (Philadelphia)

Mismatch repair deficiency predicts response of solid tumors to PD-1 blockade

by Le, Dung T., Durham, Jennifer N., Smith, Kellie N., Wang, Hao, Bartlett, Bjarne R., Aulakh, Laveet K., Lu, Steve, Kemberling, Holly, Wilt, Cara, Luber, Brandon S., Wong, Fay, Azad, Nilofer S., Rucki, Agnieszka A., Laheru, Dan, Donehower, Ross, Zaheer, Atif, Fisher, George A., Crocenzi, Todd S., Lee, James J., Greten, Tim F., Duffy, Austin G., Ciombor, Kristen K., Eyring, Aleksandra D., Lam, Bao H., Joe, Andrew, Kang, S. Peter, Holdhoff, Matthias, Danilova, Ludmila, Cope, Leslie, Meyer, Christian, Zhou, Shibin, Goldberg, Richard M., Armstrong, Deborah K., Bever, Katherine M., Fader, Amanda N., Taube, Janis, Housseau, Franck, Spetzler, David, Xiao, Nianqing, Pardoll, Drew M., Papadopoulos, Nickolas, Kinzler, Kenneth W., Eshleman, James R., Vogelstein, Bert, Anders, Robert A., Diaz, Luis A.
Published in Science (American Association for the Advancement of Science)

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants

by Fu, Wenqing, O'Connor, Timothy D, Jun, Goo, Kang, Hyun Min, Abecasis, Goncalo, Leal, Suzanne M, Gabriel, Stacey, Rieder, Mark J, Altshuler, David, Shendure, Jay, Nickerson, Deborah A, Bamshad, Michael J, Akey, Joshua M
Published in Nature (London)

Multifocal Micronodular Pneumocyte Hyperplasia in Tuberous Sclerosis Complex: Resolution with Everolimus Treatment

by Lim, Kang H, Silverstone, Elizabeth J, Yates, Deborah H
Published in American journal of respiratory and critical care medicine

Biological insights from 108 schizophrenia-associated genetic loci

by Neale, Benjamin M, Pers, Tune H, Agartz, Ingrid, Agerbo, Esben, Amin, Farooq, Bergen, Sarah E, Bigdeli, Tim B, Buckner, Randy L, Cai, Guiqing, Catts, Stanley V, Chan, Raymond C. K, Chen, Eric Y. H, Cheng, Wei, Cheung, Eric F. C, Ann Chong, Siow, Robert Cloninger, C, Cohen, Nadine, Crowley, James J, Davidson, Michael, Davis, Kenneth L, Del Favero, Jurgen, Demontis, Ditte, Dinan, Timothy, Djurovic, Srdjan, Drapeau, Elodie, Eriksson, Johan, Escott-Price, Valentina, Friedl, Marion, Fromer, Menachem, Genovese, Giulio, Georgieva, Lyudmila, Giusti-Rodriguez, Paola, Gopal, Srihari, Gratten, Jacob, Hammer, Christian, Hofman, Andrea, Hougaard, David M, Julia, Antonio, Klovins, Janis, Ausrele Kucinskiene, Zita, Hong Lee, S, Lerer, Bernard, Limborska, Svetlana, Lubinski, Jan, Macek Jr, Milan, Magnusson, Patrik K. E, Mattheisen, Manuel, McDonald, Colm, Michie, Patricia T, Milanova, Vihra, Mokrab, Younes, Muller-Myhsok, Bertram, Nenadic, Igor, Nordin, Annelie, Van Os, Jim, Endophenotypes International Consortium, Psychosis, Parkhomenko, Elena, Pejovic-Milovancevic, Milica, Pimm, Jonathan, Price, Alkes, Purcell, Shaun M, Quested, Digby, Rasmussen, Henrik B, Roffman, Joshua L, Schubert, Christian R, Schwab, Sibylle G, Scott, Rodney J, Seidman, Larry J, Silverman, Jeremy M, Smoller, Jordan W, Steinberg, Stacy, Strengman, Eric, Strohmaier, Jana, Svrakic, Dragan M, Soderman, Erik, Thirumalai, Srinivas, Toncheva, Draga, Tosato, Sarah, Veijola, Juha, Walsh, Dermot, Weiser, Mark, Wolen, Aaron R, Zheng, Xuebin, Wray, Naomi R, Visscher, Peter M, Trust Case-Control Consortium, Wellcome, Andreassen, Ole A, Blackwood, Douglas H. R, Esko, Tonu, Gill, Michael, Jablensky, Assen V, McCarroll, Steven A, Mowry, Bryan J, Owen, Michael J, Pato, Carlos N, Posthuma, Danielle, Rujescu, Dan, Sham, Pak C, Sklar, Pamela, St Clair, David
Published in Nature (London)

Morbidity and mortality due to shigella and enterotoxigenic Escherichia coli diarrhoea: the Global Burden of Disease Study 1990–2016

by Khalil, Ibrahim A, Troeger, Christopher, Blacker, Brigette F, Rao, Puja C, Brown, Alexandria, Atherly, Deborah E, Brewer, Thomas G, Engmann, Cyril M, Houpt, Eric R, Kang, Gagandeep, Kotloff, Karen L, Levine, Myron M, Luby, Stephen P, MacLennan, Calman A, Pan, William K, Pavlinac, Patricia B, Platts-Mills, James A, Qadri, Firdausi, Riddle, Mark S, Ryan, Edward T, Shoultz, David A, Steele, A Duncan, Walson, Judd L, Sanders, John W, Mokdad, Ali H, Murray, Christopher J L, Hay, Simon I, Reiner, Robert C
Published in The Lancet infectious diseases

Description and evaluation of the Community Multiscale Air Quality (CMAQ) modeling system version 5.1

by Appel, K Wyat, Napelenok, Sergey L, Foley, Kristen M, Havala O T Pye, Hogrefe, Christian, Luecken, Deborah J, Bash, Jesse O, Roselle, Shawn J, Pleim, Jonathan E, outan, Hosein, Hutzell, William T, Pouliot, George A, Sarwar, Golam, Fahey, Kathleen M, Gantt, Brett, Gilliam, Robert C, Heath, Nicholas K, Kang, Daiwen, Mathur, Rohit, Schwede, Donna B, Spero, Tanya L, Wong, David C, Young, Jeffrey O
Published in Geoscientific Model Development

MERTK Mediates Intrinsic and Adaptive Resistance to AXL-targeting Agents

by McDaniel, Nellie K, Cummings, Christopher T, Iida, Mari, Hülse, Justus, Pearson, Hannah E, Vasileiadi, Eleana, Parker, Rebecca E, Orbuch, Rachel A, Ondracek, Olivia J, Welke, Noah B, Kang, Grace H, Davies, Kurtis D, Wang, Xiaodong, Frye, Stephen V, Earp, H Shelton, Harari, Paul M, Kimple, Randall J, DeRyckere, Deborah, Graham, Douglas K, Wheeler, Deric L
Published in Molecular cancer therapeutics

The yield of tuberculosis contact investigation on relapsed TB patients and analysis of associated risk factors: Singapore’s experience

by Kyaw, Win M., Lim, Leo K.-Y., Tay, Jun Y., Cutter, Jeffery L., Ng, Deborah H. L.
Published in Epidemiology and infection

Circuits between infected macrophages and T cells in SARS-CoV-2 pneumonia

by Grant, Rogan A, Morales-Nebreda, Luisa, Markov, Nikolay S, Swaminathan, Suchitra, Querrey, Melissa, Guzman, Estefany R, Abbott, Darryl A, Donnelly, Helen K, Donayre, Alvaro, Goldberg, Isaac A, Klug, Zasu M, Borkowski, Nicole, Lu, Ziyan, Kihshen, Hermon, Politanska, Yuliya, Sichizya, Lango, Kang, Mengjia, Shilatifard, Ali, Qi, Chao, Lomasney, Jon W, Argento, A Christine, Kruser, Jacqueline M, Malsin, Elizabeth S, Pickens, Chiagozie O, Smith, Sean B, Walter, James M, Pawlowski, Anna E, Schneider, Daniel, Nannapaneni, Prasanth, Abdala-Valencia, Hiam, Bharat, Ankit, Gottardi, Cara J, Budinger, G R Scott, Misharin, Alexander V, Singer, Benjamin D, Wunderink, Richard G
Published in Nature (London)

Geriatric Surgery Produces a Hypoactive Molecular Phenotype in the Monocyte Immune Gene Transcriptome

by Oren, Rachel L, Grasfield, Rachel H, Friese, Matthew B, Chibnik, Lori B, Chi, John H, Groff, Michael W, Kang, James D, Xie, Zhongcong, Culley, Deborah J, Crosby, Gregory
Published in Journal of clinical medicine

Modeling Linkage Disequilibrium Increases Accuracy of Polygenic Risk Scores

by Gusev, Alexander, Ripke, Stephan, Walters, James T.R., Agartz, Ingrid, Albus, Margot, Bene, Judit, Bevilacqua, Elizabeth, Bigdeli, Tim B., Bruggeman, Richard, Buckner, Randy L., Carr, Vaughan J., Catts, Stanley V., Chan, Raymond C.K., Cheng, Wei, Cohen, Nadine, Curtis, David, Dikeos, Dimitris, Dinan, Timothy, Eriksson, Johan, Escott-Price, Valentina, Franke, Lude, Godard, Stephanie, Goldstein, Jacqueline I., de Haan, Lieuwe, Hartmann, Annette M., Hoffmann, Per, Hofman, Andrea, Hollegaard, Mads V., Hougaard, David M., Ikeda, Masashi, Kim, Yunjung, Kucinskas, Vaidutis, Laurent, Claudine, Limborska, Svetlana, Loughland, Carmel M., Macek, Milan, Marsal, Sara, Mattheisen, Manuel, Milanova, Vihra, Mors, Ole, Mortensen, Preben B., Olsen, Line, Parkhomenko, Elena, Paunio, Tiina, Pimm, Jonathan, Purcell, Shaun M., Reichenberg, Abraham, Reimers, Mark A., Richards, Alexander L., Roussos, Panos, Ruderfer, Douglas M., Sigurdsson, Engilbert, Silverman, Jeremy M., So, Hon-Cheong, Spencer, Chris C.A., Stefansson, Hreinn, Straub, Richard E., Strengman, Eric, Strohmaier, Jana, Svrakic, Dragan M., Tosato, Sarah, Veijola, Juha, Walsh, Dermot, Wang, Dai, Weiser, Mark, Wolen, Aaron R., Wong, Emily H.M., Stefansson, Kari, Andreassen, Ole A., Ehrenreich, Hannelore, Gill, Michael, Hultman, Christina M., Jablensky, Assen V., McQuillin, Andrew, Pato, Carlos N., Rietschel, Marcella, Sham, Pak C., Sklar, Pamela, Weinberger, Daniel R., Daly, Mark J., Crisponi, Laura, Figueroa, Jonine, Gaudet, Mia M., Hall, Per, Hein, Rebecca, Irwanto, Astrid, Johansson, Mattias, Lund, Eiliv, Peto, Julian, Rahman, Nazneen, Southey, Melissa C., Travis, Ruth, Waisfisz, Quinten, Pato, Carlos, Stahl, Eli, Belbin, Gillian, Kenny, Eimear E., Purcell, Shaun, Chasman, Daniel, Neale, Benjamin
Published in American journal of human genetics

Acute Renal Failure Secondary to Inadvertent Propylene Glycol Overdose with Single-Day High-Dose Vitamin D (Stosstherapy)

by Jelley, David H., Ali, Deborah Zayneb Mohamad, Condren, Michelle
Published in Case reports in endocrinology

Partitioning Heritability of Regulatory and Cell-Type-Specific Variants across 11 Common Diseases

by Trynka, Gosia, Stahl, Eli, Neale, Benjamin M., Farh, Kai-How, Pers, Tune H., Albus, Margot, Cahn, Wiepke, Cai, Guiqing, Carr, Vaughan J., Carrera, Noa, Cheng, Wei, Cheung, Eric F.C., Cohen, David, Cormican, Paul, Craddock, Nick, Demontis, Ditte, Djurovic, Srdjan, Donohoe, Gary, Dudbridge, Frank, Durmishi, Naser, Eriksson, Johan, Farrell, Martilias S., Freimer, Nelson B., Fromer, Menachem, Godard, Stephanie, Goldstein, Jacqueline I., Grove, Jakob, Hartmann, Annette M., Henskens, Frans A., Herms, Stefan, Hirschhorn, Joel N., Hoffmann, Per, Hougaard, David M., Ikeda, Masashi, Julià, Antonio, Kelly, Brian J., Kennedy, James L., Kucinskas, Vaidutis, Kuzelova-Ptackova, Hana, Laurent, Claudine, Lee, S. Hong, Li, Tao, Lieberman, Jeffrey, Limborska, Svetlana, Loughland, Carmel M., Lnnqvist, Jouko, Marsal, Sara, McCarley, Robert W., Meijer, Carin J., Melegh, Bela, Melle, Ingrid, Milani, Lili, Mors, Ole, Myin-Germeys, Inez, Nikitina-Zake, Liene, O’Callaghan, Eadbhard, O’Dushlaine, Colm, O’Neill, F. Anthony, Oh, Sang-Yun, Pantelis, Christos, Parkhomenko, Elena, Perkins, Diana O., Powell, John, Quested, Digby, Salomaa, Veikko, Schubert, Christian R., Shi, Jianxin, Sigurdsson, Engilbert, Sim, Kang, Stogmann, Elisabeth, Strengman, Eric, Suvisaari, Jaana, Thirumalai, Srinivas, Veijola, Juha, Walsh, Dermot, Weiser, Mark, Witt, Stephanie H., Wong, Emily H.M., Wu, Jing Qin, Stefansson, Kari, Blackwood, Douglas H.R., Ehrenreich, Hannelore, Gurling, Hugh, Hultman, Christina M., Kirov, George, Malhotra, Anil K., McCarroll, Steven A., McQuillin, Andrew, Palotie, Aarno, Rietschel, Marcella, Sham, Pak C., O’Donovan, Michael C., Bergen, Sarah, Magnusson, Patrik K.E., Scolnick, Edward, Purcell, Shaun M., Pasaniuc, Bogdan, Sullivan, Patrick F., Raychaudhuri, Soumya, Price, Alkes L.
Published in American journal of human genetics

Viral Dynamics and Immune Correlates of Coronavirus Disease 2019 (COVID-19) Severity

by Young, Barnaby E, Ong, Sean W X, Ng, Lisa F P, Anderson, Danielle E, Chia, Wan Ni, Chia, Po Ying, Ang, Li Wei, Mak, Tze-Minn, Kalimuddin, Shirin, Chai, Louis Yi Ann, Pada, Surinder, Tan, Seow Yen, Sun, Louisa, Parthasarathy, Purnima, Fong, Siew-Wai, Chan, Yi-Hao, Tan, Chee Wah, Lee, Bernett, Rötzschke, Olaf, Ding, Ying, Tambyah, Paul, Low, Jenny G H, Cui, Lin, Barkham, Timothy, Lin, Raymond Tzer Pin, Leo, Yee-Sin, Renia, Laurent, Wang, Lin-Fa, Lye, David Chien
Published in Clinical infectious diseases

A Comparison of Ten Polygenic Score Methods for Psychiatric Disorders Applied Across Multiple Cohorts

by Ni, Guiyan, Wang, Ying, Ge, Tian, Smoller, Jordan W., Ripke, Stephan, Farh, Kai-How, Holmans, Peter A., Agartz, Ingrid, Belliveau, Richard A., Bigdeli, Tim B., Black, Donald W., Buckner, Randy L., Cheng, Wei, Degenhardt, Franziska, Dudbridge, Frank, Eichhammer, Peter, Farrell, Martilias S., Frank, Josef, Freedman, Robert, Friedl, Marion, Giegling, Ina, Giusti-Rodríguez, Paola, Gratten, Jacob, Hartmann, Annette M., Hollegaard, Mads V., Kahn, René S., Karachanak-Yankova, Sena, Kavanagh, David, Keller, Matthew C., Kennedy, James L., Knowles, James A., Kucinskiene, Zita Ausrele, Li, Tao, Loughland, Carmel M., Lubinski, Jan, Maier, Wolfgang, Mallet, Jacques, Michie, Patricia T., Myin-Germeys, Inez, Nertney, Deborah A., Nicodemus, Kristin K., Nikitina-Zake, Liene, O’Callaghan, Eadbhard, O’Dushlaine, Colm, Pejovic-Milovancevic, Milica, Pocklington, Andrew J., Powell, John, Pulver, Ann E., Ruderfer, Douglas M., Salomaa, Veikko, Shi, Jianxin, Sim, Kang, Slominsky, Petr, Spencer, Chris C.A., Stahl, Eli A., Steinberg, Stacy, Stogmann, Elisabeth, Suvisaari, Jaana, Williams, Nigel M., Witt, Stephanie H., Wormley, Brandon K., Blackwood, Douglas H.R., Bramon, Elvira, Buxbaum, Joseph D., Esko, Tõnu, Gurling, Hugh, Moran, Jennifer L., Mowry, Bryan J., Owen, Michael J., Petryshen, Tracey L., Weinberger, Daniel R., Byrne, Enda M., Abdellaoui, Abdel, Andlauer, Till F.M., Castelao, Enrique, Derks, Eske M., Foo, Jerome C., Forstner, Andreas J., Hall, Lynsey S., Homuth, Georg, Jansen, Rick, Jones, Ian, Jones, Lisa A., Kretzschmar, Warren W., McGuffin, Peter, Mihailov, Evelin, Mostafavi, Sara, Nivard, Michel G., O’Reilly, Paul F., Quiroz, Jorge A., Smith, Daniel J., Thompson, Wesley, Treutlein, Jens, Umbricht, Daniel, Wu, Yang, Zhang, Futao, Grabe, Hans J., Hayward, Caroline, Lewis, Glyn, Wray, Naomi R.
Published in Biological psychiatry (1969)

Outcomes of cutaneous surgery for nonmelanoma skin cancer in patients with different Fitzpatrick skin types: A nationwide, multicenter, prospective study

by Nadir, Umer, Yi, Michael D., Koza, Eric, Shi, Victoria J., Dave, Loma, Hisham, Farhana Ikmal, Maisel-Campbell, Amanda, Lin, Katherine A., Ibrahim, Sarah A., Kang, Bianca Y., Anvery, Noor, Dirr, McKenzie A., Christensen, Rachel E., Riley, Julia M., Kundu, Roopal V., Aylward, Juliet L., Bari, Omar, Bhatti, Hamza, Bolotin, Diana, Cherpelis, Basil S., Cohen, Joel L., Condon, Sean, Farhang, Sheila, Firoz, Bahar, Garrett, Algin B., Geronemus, Roy G., Golda, Nicholas J., Humphreys, Tatyana R., Hurst, Eva A., Jacobson, Oren H., Jiang, Shang Brian, Karia, Pritesh S., Kimyai-Asadi, Arash, Kouba, David J., Council, Martha Laurin, Le, Marilyn, MacFarlane, Deborah F., Maher, Ian A., Miller, Stanley J., Moioli, Eduardo K., Morrow, Meghan, Neckman, Julia, Peterson, Samuel R., Poblete-Lopez, Christine, Prather, Chad L., Ranario, Jennifer S., Rubin, Ashley G., Swanson, Andrew M., Urban, Christopher, Xu, Yaohui (Gloria), Pearlman, Ross, Cahn, Brian A., Yoo, Simon, Harikumar, Vishnu, Weil, Alexandra, Schaeffer, Matthew, Iyengar, Sanjana, Poon, Emily, Alam, Murad
Published in Journal of the American Academy of Dermatology

Clinical genetic testing for patients with autism spectrum disorders

by Shen, Yiping, Dies, Kira A, Holm, Ingrid A, Bridgemohan, Carolyn, Sobeih, Magdi M, Caronna, Elizabeth B, Miller, Karen J, Frazier, Jean A, Silverstein, Iris, Picker, Jonathan, Weissman, Laura, Raffalli, Peter, Jeste, Shafali, Demmer, Laurie A, Peters, Heather K, Brewster, Stephanie J, Kowalczyk, Sara J, Rosen-Sheidley, Beth, McGowan, Caroline, Duda, 3rd, Andrew W, Lincoln, Sharyn A, Lowe, Kathryn R, Schonwald, Alison, Robbins, Michael, Hisama, Fuki, Wolff, Robert, Becker, Ronald, Nasir, Ramzi, Urion, David K, Milunsky, Jeff M, Rappaport, Leonard, Gusella, James F, Walsh, Christopher A, Wu, Bai-Lin, Miller, David T
Published in Pediatrics (Evanston)