Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine von Petrovski, Slavé, Goldstein, David B

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Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning von Vitsios, Dimitrios, Dhindsa, Ryan S., Middleton, Lawrence, Gussow, Ayal B., Petrovski, Slavé

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Mantis-ml: Disease-Agnostic Gene Prioritization from High-Throughput Genomic Screens by Stochastic Semi-supervised Learning von Vitsios, Dimitrios, Petrovski, Slavé

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MTR-Viewer: identifying regions within genes under purifying selection von Silk, Michael, Petrovski, Slavé, Ascher, David B

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Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study von Petrovski, Slavé, Aggarwal, Vimla, Giordano, Jessica L, Stosic, Melissa, Wou, Karen, Bier, Louise, Spiegel, Erica, Brennan, Kelly, Stong, Nicholas, Jobanputra, Vaidehi, Ren, Zhong, Zhu, Xiaolin, Mebane, Caroline, Nahum, Odelia, Wang, Quanli, Kamalakaran, Sitharthan, Malone, Colin, Anyane-Yeboa, Kwame, Miller, Russell, Levy, Brynn, Goldstein, David B, Wapner, Ronald J

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Epilepsy genetics: clinical impacts and biological insights von Ellis, Colin A, Petrovski, Slavé, Berkovic, Samuel F

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Genic intolerance to functional variation and the interpretation of personal genomes von Petrovski, Slavé, Wang, Quanli, Heinzen, Erin L, Allen, Andrew S, Goldstein, David B

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An expanded genomic database for identifying disease-related variants von Dhindsa, Ryan S., Petrovski, Slavé

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Rare-variant collapsing analyses for complex traits: guidelines and applications von Povysil, Gundula, Petrovski, Slavé, Hostyk, Joseph, Aggarwal, Vimla, Allen, Andrew S., Goldstein, David B.

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Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation von Traynelis, Joshua, Silk, Michael, Wang, Quanli, Berkovic, Samuel F, Liu, Liping, Ascher, David B, Balding, David J, Petrovski, Slavé

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The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes von Gussow, Ayal B, Petrovski, Slavé, Wang, Quanli, Allen, Andrew S, Goldstein, David B

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FinnGen provides genetic insights from a well-phenotyped isolated population von Kurki, Mitja I., Karjalainen, Juha, Palta, Priit, Sipilä, Timo P., Donner, Kati M., Reeve, Mary P., Laivuori, Hannele, Kaunisto, Mari A., Loukola, Anu, Lahtela, Elisa, Mattsson, Hannele, Laiho, Päivi, Della Briotta Parolo, Pietro, Lehisto, Arto A., Kanai, Masahiro, Mars, Nina, Heyne, Henrike O., Veerapen, Kumar, Rüeger, Sina, Lemmelä, Susanna, Zhou, Wei, Ruotsalainen, Sanni, Pärn, Kalle, Hiekkalinna, Tero, Koskelainen, Sami, Llorens, Vincent, Gracia-Tabuenca, Javier, Siirtola, Harri, Reis, Kadri, Elnahas, Abdelrahman G., Aalto-Setälä, Katriina, Biswas, Shameek, Dada, Oluwaseun A., Ding, Zhihao, Ehm, Margaret G., Eklund, Kari, Färkkilä, Martti, Finucane, Hilary, Ganna, Andrea, Ghazal, Awaisa, Hakanen, Antti, Hu, Xinli, Hunkapiller, Julie, Jacob, Howard, Jensen, Jan-Nygaard, Joensuu, Heikki, John, Sally, Junttila, Juhani, Kähönen, Mika, Kallio, Lila, Kaprio, Jaakko, Kettunen, Johannes, Kilpeläinen, Elina, Kosma, Veli-Matti, Kuopio, Teijo, Laisk, Triin, Laukkanen, Jari, Liu, Aoxing, Mägi, Reedik, Mäkitie, Antti, Malarstig, Anders, Maranville, Joseph, Niemi, Mari E. K., Niemi, Marianna, Obeidat, Ma´en, Okafo, George, Palomäki, Antti, Palotie, Tuula, Pitkäranta, Anne, Pulford, David, Raghavan, Neha, Rahimov, Fedik, Riley-Gillis, Bridget, Rodosthenous, Rodosthenis, Salminen, Eveliina, Salomaa, Veikko, Schleutker, Johanna, Serpi, Raisa, Shen, Huei-yi, Siegel, Richard, Sul, Jae Hoon, Tachmazidou, Ioanna, Tienari, Pentti, Tukiainen, Taru, Vaura, Felix, Virolainen, Petri, Waring, Jeffrey, Waterworth, Dawn, Yang, Robert, Nelis, Mari, Metspalu, Andres, Milani, Lili, Fox, Caroline, Havulinna, Aki S., Perola, Markus, Jalanko, Anu, Plenge, Robert, Runz, Heiko, Daly, Mark J., Palotie, Aarno

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Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy von Bagnall, Richard D., Crompton, Douglas E., Petrovski, Slavé, Lam, Lien, Cutmore, Carina, Garry, Sarah I., Sadleir, Lynette G., Dibbens, Leanne M., Cairns, Anita, Kivity, Sara, Afawi, Zaid, Regan, Brigid M., Duflou, Johan, Berkovic, Samuel F., Scheffer, Ingrid E., Semsarian, Christopher

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Annotating pathogenic non-coding variants in genic regions von Gelfman, Sahar, Wang, Quanli, McSweeney, K. Melodi, Ren, Zhong, La Carpia, Francesca, Halvorsen, Matt, Schoch, Kelly, Ratzon, Fanni, Heinzen, Erin L., Boland, Michael J., Petrovski, Slavé, Goldstein, David B.

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Rare variant contribution to human disease in 281,104 UK Biobank exomes von Wang, Quanli, Dhindsa, Ryan S., Carss, Keren, Harper, Andrew R., Nag, Abhishek, Tachmazidou, Ioanna, Vitsios, Dimitrios, Deevi, Sri V. V., Mackay, Alex, Muthas, Daniel, Hühn, Michael, Monkley, Susan, Olsson, Henric, Wasilewski, Sebastian, Smith, Katherine R., March, Ruth, Platt, Adam, Haefliger, Carolina, Petrovski, Slavé

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An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis von Petrovski, Slavé, Todd, Jamie L, Durheim, Michael T, Wang, Quanli, Chien, Jason W, Kelly, Fran L, Frankel, Courtney, Mebane, Caroline M, Ren, Zhong, Bridgers, Joshua, Urban, Thomas J, Malone, Colin D, Finlen Copeland, Ashley, Brinkley, Christie, Allen, Andrew S, O'Riordan, Thomas, McHutchison, John G, Palmer, Scott M, Goldstein, David B

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Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis von Kar, Siddhartha P., Quiros, Pedro M., Gu, Muxin, Jiang, Tao, Mitchell, Jonathan, Langdon, Ryan, Iyer, Vivek, Barcena, Clea, Vijayabaskar, M. S., Fabre, Margarete A., Carter, Paul, Petrovski, Slavé, Burgess, Stephen, Vassiliou, George S.

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Diagnostic Utility of Exome Sequencing for Kidney Disease von Groopman, Emily E, Marasa, Maddalena, Cameron-Christie, Sophia, Petrovski, Slavé, Aggarwal, Vimla S, Milo-Rasouly, Hila, Li, Yifu, Zhang, Junying, Nestor, Jordan, Krithivasan, Priya, Lam, Wan Yee, Mitrotti, Adele, Piva, Stacy, Kil, Byum H, Chatterjee, Debanjana, Reingold, Rachel, Bradbury, Drew, DiVecchia, Michael, Snyder, Holly, Mu, Xueru, Mehl, Karla, Balderes, Olivia, Fasel, David A, Weng, Chunhua, Radhakrishnan, Jai, Canetta, Pietro, Appel, Gerald B, Bomback, Andrew S, Ahn, Wooin, Uy, Natalie S, Alam, Shumyle, Cohen, David J, Crew, Russell J, Dube, Geoffrey K, Rao, Maya K, Kamalakaran, Sitharthan, Copeland, Brett, Ren, Zhong, Bridgers, Joshua, Malone, Colin D, Mebane, Caroline M, Dagaonkar, Neha, Fellström, Bengt C, Haefliger, Carolina, Mohan, Sumit, Sanna-Cherchi, Simone, Kiryluk, Krzysztof, Fleckner, Jan, March, Ruth, Platt, Adam, Goldstein, David B, Gharavi, Ali G

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Genome-wide mega-analysis identifies 16 loci and highlights diverse biological mechanisms in the common epilepsies von Abou-Khalil, Bassel, Auce, Pauls, Avbersek, Andreja, Bahlo, Melanie, Balding, David J., Bast, Thomas, Baum, Larry, Becker, Albert J., Becker, Felicitas, Berghuis, Bianca, Berkovic, Samuel F., Boysen, Katja E., Bradfield, Jonathan P., Brody, Lawrence C., Buono, Russell J., Campbell, Ellen, Cascino, Gregory D., Catarino, Claudia B., Cavalleri, Gianpiero L., Cherny, Stacey S., Chinthapalli, Krishna, Coffey, Alison J., Compston, Alastair, Coppola, Antonietta, Cossette, Patrick, Craig, John J., de Haan, Gerrit-Jan, De Jonghe, Peter, de Kovel, Carolien G. F., Delanty, Norman, Depondt, Chantal, Devinsky, Orrin, Dlugos, Dennis J., Doherty, Colin P., Elger, Christian E., Eriksson, Johan G., Ferraro, Thomas N., Feucht, Martha, Francis, Ben, Franke, Andre, French, Jacqueline A., Freytag, Saskia, Gaus, Verena, Geller, Eric B., Gieger, Christian, Glauser, Tracy, Glynn, Simon, Goldstein, David B., Gui, Hongsheng, Guo, Youling, Haas, Kevin F., Hakonarson, Hakon, Hallmann, Kerstin, Haut, Sheryl, Heinzen, Erin L., Helbig, Ingo, Hengsbach, Christian, Hjalgrim, Helle, Iacomino, Michele, Ingason, Andrés, Jamnadas-Khoda, Jennifer, Johnson, Michael R., Kälviäinen, Reetta, Kantanen, Anne-Mari, Kasperavičiūte, Dalia, Kasteleijn-Nolst Trenite, Dorothee, Kirsch, Heidi E., Knowlton, Robert C., Koeleman, Bobby P. C., Krause, Roland, Krenn, Martin, Kunz, Wolfram S., Kuzniecky, Ruben, Kwan, Patrick, Lal, Dennis, Lau, Yu-Lung, Lehesjoki, Anna-Elina, Lerche, Holger, Leu, Costin, Lieb, Wolfgang, Lindhout, Dick, Lo, Warren D., Lopes-Cendes, Iscia, Lowenstein, Daniel H., Malovini, Alberto, Marson, Anthony G., Mayer, Thomas, McCormack, Mark, Mills, James L., Mirza, Nasir, Moerzinger, Martina, Møller, Rikke S., Molloy, Anne M., Muhle, Hiltrud, Newton, Mark, Ng, Ping-Wing, Nöthen, Markus M., Nürnberg, Peter, O’Brien, Terence J., Oliver, Karen L.

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KCNT1 gain of function in 2 epilepsy phenotypes is reversed by quinidine von Milligan, Carol J., Li, Melody, Gazina, Elena V., Heron, Sarah E., Nair, Umesh, Trager, Chantel, Reid, Christopher A., Venkat, Anu, Younkin, Donald P., Dlugos, Dennis J., Petrovski, Slavé, Goldstein, David B., Dibbens, Leanne M., Scheffer, Ingrid E., Berkovic, Samuel F., Petrou, Steven

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