Dabrafenib in BRAFV600E mutant pilocytic astrocytoma in a pediatric patient von Mustansir, F., Mushtaq, N., Darbar, A.

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Comparison of analgesic efficacy of subcostal transversus abdominis plane blocks with epidural analgesia following upper abdominal surgery von Niraj, G., Kelkar, A., Jeyapalan, I., Graff‐Baker, P., Williams, O., Darbar, A., Maheshwaran, A., Powell, R.

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Evaluation of muscle strength and motor abilities in children with type II and III spinal muscle atrophy treated with valproic acid von Darbar, Illora A, Plaggert, Paulo G, Resende, Maria Bernadete D, Zanoteli, Edmar, Reed, Umbertina C

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The mutational constraint spectrum quantified from variation in 141,456 humans von Karczewski, Konrad J., Francioli, Laurent C., Tiao, Grace, Cummings, Beryl B., Alföldi, Jessica, Wang, Qingbo, Collins, Ryan L., Laricchia, Kristen M., Ganna, Andrea, Birnbaum, Daniel P., Gauthier, Laura D., Brand, Harrison, Solomonson, Matthew, Watts, Nicholas A., Rhodes, Daniel, Singer-Berk, Moriel, England, Eleina M., Seaby, Eleanor G., Kosmicki, Jack A., Walters, Raymond K., Tashman, Katherine, Farjoun, Yossi, Banks, Eric, Poterba, Timothy, Wang, Arcturus, Seed, Cotton, Whiffin, Nicola, Chong, Jessica X., Samocha, Kaitlin E., Pierce-Hoffman, Emma, Zappala, Zachary, O’Donnell-Luria, Anne H., Minikel, Eric Vallabh, Weisburd, Ben, Lek, Monkol, Ware, James S., Vittal, Christopher, Armean, Irina M., Bergelson, Louis, Cibulskis, Kristian, Connolly, Kristen M., Covarrubias, Miguel, Donnelly, Stacey, Ferriera, Steven, Gabriel, Stacey, Gentry, Jeff, Gupta, Namrata, Jeandet, Thibault, Kaplan, Diane, Llanwarne, Christopher, Munshi, Ruchi, Novod, Sam, Petrillo, Nikelle, Roazen, David, Ruano-Rubio, Valentin, Saltzman, Andrea, Schleicher, Molly, Soto, Jose, Tibbetts, Kathleen, Tolonen, Charlotte, Wade, Gordon, Talkowski, Michael E., Neale, Benjamin M., Daly, Mark J., MacArthur, Daniel G.

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A genomic mutational constraint map using variation in 76,156 human genomes von Chen, Siwei, Francioli, Laurent C., Goodrich, Julia K., Collins, Ryan L., Kanai, Masahiro, Wang, Qingbo, Alföldi, Jessica, Watts, Nicholas A., Vittal, Christopher, Gauthier, Laura D., Poterba, Timothy, Wilson, Michael W., Tarasova, Yekaterina, Phu, William, Grant, Riley, Yohannes, Mary T., Koenig, Zan, Farjoun, Yossi, Banks, Eric, Donnelly, Stacey, Gabriel, Stacey, Gupta, Namrata, Ferriera, Steven, Tolonen, Charlotte, Novod, Sam, Bergelson, Louis, Roazen, David, Ruano-Rubio, Valentin, Covarrubias, Miguel, Llanwarne, Christopher, Petrillo, Nikelle, Wade, Gordon, Jeandet, Thibault, Munshi, Ruchi, Tibbetts, Kathleen, O’Donnell-Luria, Anne, Solomonson, Matthew, Seed, Cotton, Martin, Alicia R., Talkowski, Michael E., Rehm, Heidi L., Daly, Mark J., Tiao, Grace, Neale, Benjamin M., MacArthur, Daniel G., Karczewski, Konrad J.

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A structural variation reference for medical and population genetics von Collins, Ryan L., Brand, Harrison, Karczewski, Konrad J., Zhao, Xuefang, Alföldi, Jessica, Francioli, Laurent C., Khera, Amit V., Lowther, Chelsea, Gauthier, Laura D., Wang, Harold, Watts, Nicholas A., Solomonson, Matthew, O’Donnell-Luria, Anne, Baumann, Alexander, Munshi, Ruchi, Walker, Mark, Whelan, Christopher W., Huang, Yongqing, Brookings, Ted, Sharpe, Ted, Stone, Matthew R., Valkanas, Elise, Fu, Jack, Tiao, Grace, Laricchia, Kristen M., Ruano-Rubio, Valentin, Stevens, Christine, Gupta, Namrata, Cusick, Caroline, Margolin, Lauren, Taylor, Kent D., Lin, Henry J., Rich, Stephen S., Post, Wendy S., Chen, Yii-Der Ida, Rotter, Jerome I., Nusbaum, Chad, Philippakis, Anthony, Lander, Eric, Gabriel, Stacey, Neale, Benjamin M., Kathiresan, Sekar, Daly, Mark J., Banks, Eric, MacArthur, Daniel G., Talkowski, Michael E.

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Systemic effects of periodontitis treatment in patients with type 2 diabetes: a 12 month, single-centre, investigator-masked, randomised trial von D'Aiuto, Francesco, Gkranias, Nikolaos, Bhowruth, Devina, Khan, Tauseef, Orlandi, Marco, Suvan, Jean, Masi, Stefano, Tsakos, Georgios, Hurel, Steve, Hingorani, Aroon D, Donos, Nikos, Deanfield, John E, Lomax, Alastair, Horvath, Attila, Zambon, Riccardo, Tay, Shiefung, Tatarakis, Nikos, Spratt, Dave, Kingston, Isabel, Parkar, Mohamed, Darbar, Ulpee, Patel, Kalpesh, Giedrys-Leeper, Elaine, Harrington, Zoe, Baynes, Kevin, Hughes, Francis, Gable, David, Patel, Pratik, Haria, Ankeet, Lessani, Michael, Moskal-Fitzpatrick, Donna, Curra', Maria Chiara, Hirani, Banbai, Niziolek, Kasia, Mellor, Tiffany

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Defining the role of common variation in the genomic and biological architecture of adult human height von Amin, Najaf, Croteau-Chonka, Damien C, Jackson, Anne U, Randall, Joshua C, Westra, Harm-Jan, Absher, Devin, Baron, Jeffrey, Feitosa, Mary F, Fischer, Krista, Kanoni, Stavroula, Leach, Irene Mateo, Palmer, Cameron D, Prokopenko, Inga, Ripke, Stephan, Stancáková, Alena, Sung, Yun Ju, Trompet, Stella, Blüher, Matthias, Bolton, Jennifer L, Claudi-Boehm, Simone, Cooper, Matthew, Daw, E Warwick, Dörr, Marcus, Folkersen, Lasse, Grönberg, Henrik, Hannemann, Anke, Helmer, Quinta, Hemani, Gibran, Hoffmann, Wolfgang, Holmen, Oddgeir, Kho, Abel N, Kratzer, Wolfgang, Magnusson, Patrik K E, McLaren, Paul J, Menni, Cristina, Merger, Sigrun, Milani, Lili, Nauck, Matthias, Oozageer, Laticia, Pilz, Stefan, Rayner, Nigel W, Renstrom, Frida, Scott, Robert A, Stringham, Heather M, Swertz, Morris A, Syvänen, Ann-Christine, van Dijk, Suzanne, Vonk, Judith M, Wennauer, Roman, Wilsgaard, Tom, Wong, Andrew, Wright, Alan F, Bergmann, Sven, Bornstein, Stefan R, Brambilla, Paolo, Brown, Morris J, Chakravarti, Aravinda, Danesh, John, de Faire, Ulf, Erbel, Raimund, Ferrières, Jean, Gejman, Pablo V, Heath, Andrew C, Hengstenberg, Christian, Hingorani, Aroon D, Kaprio, Jaakko, Madden, Pamela A F, Marette, André, Montgomery, Grant W, Nelis, Mari, Ong, Ken K, Peters, Annette, Qi, Lu, Rice, Treva K, Saramies, Jouko, Sebert, Sylvain, Steinthorsdottir, Valgerdur, Tardif, Jean-Claude, Tremblay, Angelo, Assimes, Themistocles L, Dedoussis, George, Franks, Paul W, Groop, Leif C, Hamsten, Anders, Kuh, Diana, Laakso, Markku, Munroe, Patricia B, Schlessinger, David, Slagboom, P Eline, Snieder, Harold, Spector, Tim D, Tuomilehto, Jaakko, Uusitupa, Matti, Walker, Mark, Thorsteinsdottir, Unnur, Barroso, Inês, Borecki, Ingrid B, McCarthy, Mark I, Visscher, Peter M, Frayling, Timothy M

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Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale von Li, Xihao, Li, Zilin, Zhou, Hufeng, Gaynor, Sheila M., Liu, Yaowu, Chen, Han, Sun, Ryan, Dey, Rounak, Arnett, Donna K., Aslibekyan, Stella, Ballantyne, Christie M., Bielak, Lawrence F., Blangero, John, Boerwinkle, Eric, Bowden, Donald W., Broome, Jai G., Conomos, Matthew P., Correa, Adolfo, Cupples, L. Adrienne, Curran, Joanne E., Freedman, Barry I., Guo, Xiuqing, Hindy, George, Irvin, Marguerite R., Kardia, Sharon L. R., Kathiresan, Sekar, Khan, Alyna T., Kooperberg, Charles L., Laurie, Cathy C., Liu, X. Shirley, Mahaney, Michael C., Manichaikul, Ani W., Martin, Lisa W., Mathias, Rasika A., McGarvey, Stephen T., Mitchell, Braxton D., Montasser, May E., Moore, Jill E., Morrison, Alanna C., O’Connell, Jeffrey R., Palmer, Nicholette D., Pampana, Akhil, Peralta, Juan M., Peyser, Patricia A., Psaty, Bruce M., Redline, Susan, Rice, Kenneth M., Rich, Stephen S., Smith, Jennifer A., Tiwari, Hemant K., Tsai, Michael Y., Vasan, Ramachandran S., Wang, Fei Fei, Weeks, Daniel E., Weng, Zhiping, Wilson, James G., Yanek, Lisa R., Neale, Benjamin M., Sunyaev, Shamil R., Abecasis, Gonçalo R., Rotter, Jerome I., Willer, Cristen J., Peloso, Gina M., Natarajan, Pradeep, Lin, Xihong

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Clonal haematopoiesis and risk of chronic liver disease von Wong, Waihay J., Emdin, Connor, Bick, Alexander G., Zekavat, Seyedeh M., Niroula, Abhishek, Pirruccello, James P., Dichtel, Laura, Griffin, Gabriel, Uddin, Md Mesbah, Gibson, Christopher J., Kovalcik, Veronica, Lin, Amy E., McConkey, Marie E., Vromman, Amelie, Sellar, Rob S., Kim, Peter G., Agrawal, Mridul, Weinstock, Joshua, Long, Michelle T., Yu, Bing, Banerjee, Rajarshi, Nicholls, Rowan C., Dennis, Andrea, Kelly, Matt, Loh, Po-Ru, McCarroll, Steve, Boerwinkle, Eric, Vasan, Ramachandran S., Jaiswal, Siddhartha, Johnson, Andrew D., Chung, Raymond T., Corey, Kathleen, Levy, Daniel, Ballantyne, Christie, Ebert, Benjamin L., Natarajan, Pradeep

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Transcript expression-aware annotation improves rare variant interpretation von Cummings, Beryl B., Karczewski, Konrad J., Kosmicki, Jack A., Seaby, Eleanor G., Watts, Nicholas A., Singer-Berk, Moriel, Mudge, Jonathan M., Karjalainen, Juha, Satterstrom, F. Kyle, O’Donnell-Luria, Anne H., Poterba, Timothy, Seed, Cotton, Solomonson, Matthew, Alföldi, Jessica, Daly, Mark J., MacArthur, Daniel G.

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Evaluating drug targets through human loss-of-function genetic variation von Minikel, Eric Vallabh, Karczewski, Konrad J., Martin, Hilary C., Cummings, Beryl B., Whiffin, Nicola, Rhodes, Daniel, Alföldi, Jessica, Trembath, Richard C., van Heel, David A., Daly, Mark J., Schreiber, Stuart L., MacArthur, Daniel G.

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A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response von Luo, Yang, Kanai, Masahiro, Choi, Wanson, Li, Xinyi, Sakaue, Saori, Yamamoto, Kenichi, Ogawa, Kotaro, Gutierrez-Arcelus, Maria, Gregersen, Peter K., Stuart, Philip E., Elder, James T., Forer, Lukas, Schönherr, Sebastian, Fuchsberger, Christian, Smith, Albert V., Fellay, Jacques, Carrington, Mary, Haas, David W., Guo, Xiuqing, Palmer, Nicholette D., Chen, Yii-Der Ida, Rotter, Jerome I., Taylor, Kent D., Rich, Stephen S., Correa, Adolfo, Wilson, James G., Kathiresan, Sekar, Cho, Michael H., Metspalu, Andres, Esko, Tonu, Okada, Yukinori, Han, Buhm, McLaren, Paul J., Raychaudhuri, Soumya

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Landscape of multi-nucleotide variants in 125,748 human exomes and 15,708 genomes von Wang, Qingbo, Pierce-Hoffman, Emma, Cummings, Beryl B., Alföldi, Jessica, Francioli, Laurent C., Gauthier, Laura D., Hill, Andrew J., O’Donnell-Luria, Anne H., Karczewski, Konrad J., MacArthur, Daniel G.

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Characterising the loss-of-function impact of 5’ untranslated region variants in 15,708 individuals von Whiffin, Nicola, Karczewski, Konrad J., Zhang, Xiaolei, Chothani, Sonia, Smith, Miriam J., Evans, D. Gareth, Roberts, Angharad M., Quaife, Nicholas M., Schafer, Sebastian, Rackham, Owen, Alföldi, Jessica, O’Donnell-Luria, Anne H., Francioli, Laurent C., Cook, Stuart A., Barton, Paul J. R., MacArthur, Daniel G., Ware, James S.

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Deep-coverage whole genome sequences and blood lipids among 16,324 individuals von Natarajan, Pradeep, Peloso, Gina M., Zekavat, Seyedeh Maryam, Montasser, May, Ganna, Andrea, Chaffin, Mark, Khera, Amit V., Zhou, Wei, Bloom, Jonathan M., Engreitz, Jesse M., Ernst, Jason, O’Connell, Jeffrey R., Ruotsalainen, Sanni E., Alver, Maris, Manichaikul, Ani, Johnson, W. Craig, Perry, James A., Poterba, Timothy, Seed, Cotton, Surakka, Ida L., Esko, Tonu, Ripatti, Samuli, Salomaa, Veikko, Correa, Adolfo, Vasan, Ramachandran S., Kellis, Manolis, Neale, Benjamin M., Lander, Eric S., Abecasis, Goncalo, Mitchell, Braxton, Rich, Stephen S., Wilson, James G., Cupples, L. Adrienne, Rotter, Jerome I., Willer, Cristen J., Kathiresan, Sekar

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The effect of LRRK2 loss-of-function variants in humans von Whiffin, Nicola, Armean, Irina M., Kleinman, Aaron, Marshall, Jamie L., Minikel, Eric V., Goodrich, Julia K., Quaife, Nicholas M., Cole, Joanne B., Wang, Qingbo, Karczewski, Konrad J., Cummings, Beryl B., Francioli, Laurent, Laricchia, Kristen, Guan, Anna, Alipanahi, Babak, Morrison, Peter, Baptista, Marco A. S., Merchant, Kalpana M., Ware, James S., Havulinna, Aki S., Iliadou, Bozenna, Lee, Jung-Jin, Nadkarni, Girish N., Whiteman, Cole, Daly, Mark, Esko, Tõnu, Hultman, Christina, Loos, Ruth J. F., Milani, Lili, Palotie, Aarno, Pato, Carlos, Pato, Michele, Saleheen, Danish, Sullivan, Patrick F., Alföldi, Jessica, Cannon, Paul, MacArthur, Daniel G.

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A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies von Li, Zilin, Li, Xihao, Zhou, Hufeng, Gaynor, Sheila M., Selvaraj, Margaret Sunitha, Arapoglou, Theodore, Quick, Corbin, Liu, Yaowu, Chen, Han, Sun, Ryan, Dey, Rounak, Arnett, Donna K., Auer, Paul L., Bielak, Lawrence F., Bis, Joshua C., Blackwell, Thomas W., Blangero, John, Boerwinkle, Eric, Bowden, Donald W., Brody, Jennifer A., Cade, Brian E., Conomos, Matthew P., Correa, Adolfo, Cupples, L. Adrienne, Curran, Joanne E., de Vries, Paul S., Duggirala, Ravindranath, Franceschini, Nora, Freedman, Barry I., Göring, Harald H. H., Guo, Xiuqing, Kalyani, Rita R., Kooperberg, Charles, Kral, Brian G., Lange, Leslie A., Lin, Bridget M., Manichaikul, Ani, Manning, Alisa K., Martin, Lisa W., Mathias, Rasika A., Meigs, James B., Mitchell, Braxton D., Montasser, May E., Morrison, Alanna C., Naseri, Take, O’Connell, Jeffrey R., Palmer, Nicholette D., Peyser, Patricia A., Psaty, Bruce M., Raffield, Laura M., Redline, Susan, Reiner, Alexander P., Reupena, Muagututi’a Sefuiva, Rice, Kenneth M., Rich, Stephen S., Smith, Jennifer A., Taylor, Kent D., Taub, Margaret A., Vasan, Ramachandran S., Weeks, Daniel E., Wilson, James G., Yanek, Lisa R., Zhao, Wei, Rotter, Jerome I., Willer, Cristen J., Natarajan, Pradeep, Peloso, Gina M., Lin, Xihong

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Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis von Weinstock, Joshua S., Gopakumar, Jayakrishnan, Burugula, Bala Bharathi, Jahn, Nikolaus, Belk, Julia A., Bouzid, Hind, Daniel, Bence, Miao, Zhuang, Ly, Nghi, Mack, Taralynn M., Luna, Sofia E., Prothro, Katherine P., Mitchell, Shaneice R., Laurie, Cecelia A., Broome, Jai G., Taylor, Kent D., Guo, Xiuqing, Sinner, Moritz F., von Falkenhausen, Aenne S., Shuldiner, Alan R., O’Connell, Jeffrey R., Lewis, Joshua P., Boerwinkle, Eric, Chami, Nathalie, Kenny, Eimear E., Loos, Ruth J. F., Fornage, Myriam, Hou, Lifang, Lloyd-Jones, Donald M., Redline, Susan, Cade, Brian E., Psaty, Bruce M., Bis, Joshua C., Brody, Jennifer A., Yun, Jeong H., Qiao, Dandi, Palmer, Nicholette D., Freedman, Barry I., Bowden, Donald W., Cho, Michael H., Vasan, Ramachandran S., Yanek, Lisa R., Becker, Lewis C., Kardia, Sharon L. R., Peyser, Patricia A., He, Jiang, Rienstra, Michiel, Van der Harst, Pim, Kaplan, Robert, Heckbert, Susan R., Smith, Nicholas L., Wiggins, Kerri L., Arnett, Donna K., Irvin, Marguerite R., Tiwari, Hemant, Cutler, Michael J., Knight, Stacey, Muhlestein, J. Brent, Correa, Adolfo, Raffield, Laura M., Gao, Yan, de Andrade, Mariza, Rotter, Jerome I., Rich, Stephen S., Konkle, Barbara A., Johnsen, Jill M., Wheeler, Marsha M., Smith, J. Gustav, Melander, Olle, Nilsson, Peter M., Custer, Brian S., Duggirala, Ravindranath, Curran, Joanne E., Blangero, John, Xiao, Shujie, Yang, Mao, Gu, C. Charles, Chen, Yii-Der Ida, Lee, Wen-Jane, Marcus, Gregory M., Kane, John P., Pullinger, Clive R., Shoemaker, M. Benjamin, Darbar, Dawood, Roden, Dan M., Kooperberg, Charles, Zhou, Ying, Manson, JoAnn E., Desai, Pinkal, Johnson, Andrew D., Mathias, Rasika A., Abecasis, Goncalo R., Kang, Hyun M., Satpathy, Ansuman T., Natarajan, Pradeep, Kitzman, Jacob O., Whitsel, Eric A., Reiner, Alexander P., Bick, Alexander G., Jaiswal, Siddhartha

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Whole Genome Sequence Analysis of the Plasma Proteome in Black Adults Provides Novel Insights Into Cardiovascular Disease von Katz, Daniel H., Tahir, Usman A., Bick, Alexander G., Pampana, Akhil, Ngo, Debby, Benson, Mark D., Yu, Zhi, Robbins, Jeremy M., Chen, Zsu-Zsu, Cruz, Daniel E., Deng, Shuliang, Farrell, Laurie, Sinha, Sumita, Schmaier, Alec A., Shen, Dongxiao, Gao, Yan, Hall, Michael E., Correa, Adolfo, Tracy, Russell P., Durda, Peter, Taylor, Kent D., Liu, Yongmei, Johnson, W. Craig, Guo, Xiuqing, Yao, Jie, Ida Chen, Yii-Der, Manichaikul, Ani W., Jain, Deepti, Bouchard, Claude, Sarzynski, Mark A., Rich, Stephen S., Rotter, Jerome I., Wang, Thomas J., Wilson, James G., Natarajan, Pradeep, Gerszten, Robert E.

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