Search Results - "Petrovski, Slave"

Quinidine in the treatment of KCNT1-positive epilepsies by Mikati, Mohamad A, Jiang, Yong-hui, Carboni, Michael, Shashi, Vandana, Petrovski, Slave, Spillmann, Rebecca, Milligan, Carol J., Li, Melody, Grefe, Annette, McConkie, Allyn, Berkovic, Samuel, Scheffer, Ingrid, Mullen, Saul, Bonner, Melanie, Petrou, Steven, Goldstein, David

“…We report 2 patients with drug‐resistant epilepsy caused by KCNT1 mutations who were treated with quinidine. Both mutations manifested gain of function in…”
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The best of both worlds: Blending cutting‐edge research with clinical processes for a productive exome clinic by Sullivan, Jennifer A., Spillmann, Rebecca C., Schoch, Kelly, Walley, Nicole, Alkelai, Anna, Stong, Nicholas, Shea, Patrick R., Petrovski, Slavè, Jobanputra, Vaidehi, McConkie‐Rosell, Allyn, Shashi, Vandana

“…Genomic medicine has been transformed by next‐generation sequencing (NGS), inclusive of exome sequencing (ES) and genome sequencing (GS). Currently, ES is…”
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Whole‐exome sequencing in 20,197 persons for rare variants in Alzheimer's disease by Raghavan, Neha S., Brickman, Adam M., Andrews, Howard, Manly, Jennifer J., Schupf, Nicole, Lantigua, Rafael, Wolock, Charles J., Kamalakaran, Sitharthan, Petrovski, Slave, Tosto, Giuseppe, Vardarajan, Badri N., Goldstein, David B., Mayeux, Richard

“…Objective The genetic bases of Alzheimer's disease remain uncertain. An international effort to fully articulate genetic risks and protective factors is…”
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Mantis-ml: Disease-Agnostic Gene Prioritization from High-Throughput Genomic Screens by Stochastic Semi-supervised Learning by Vitsios, Dimitrios, Petrovski, Slavé

“…Access to large-scale genomics datasets has increased the utility of hypothesis-free genome-wide analyses. However, gene signals are often insufficiently…”
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Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine by Petrovski, Slavé, Goldstein, David B

“…An important application of modern genomics is diagnosing genetic disorders. We use the largest publicly available exome sequence database to show that this…”
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Epilepsy genetics: clinical impacts and biological insights by Ellis, Colin A, Petrovski, Slavé, Berkovic, Samuel F

“…Genomics now has an increasingly important role in neurology clinics. Regarding the epilepsies, innovations centred around technology, analytics, and…”
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Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning by Vitsios, Dimitrios, Dhindsa, Ryan S., Middleton, Lawrence, Gussow, Ayal B., Petrovski, Slavé

“…Elucidating functionality in non-coding regions is a key challenge in human genomics. It has been shown that intolerance to variation of coding and proximal…”
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MTR-Viewer: identifying regions within genes under purifying selection by Silk, Michael, Petrovski, Slavé, Ascher, David B

“…Advances in genomic sequencing have enormous potential to revolutionize personalized medicine, however distinguishing disease-causing from benign variants…”
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Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study by 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

“…Identification of chromosomal aneuploidies and copy number variants that are associated with fetal structural anomalies has substantial value. Although…”
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An expanded genomic database for identifying disease-related variants by Dhindsa, Ryan S., Petrovski, Slavé

“…An expanded version of a human-genome database called gnomAD, containing 76,156 whole-genome sequences, has enabled investigation of how variants in…”
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Genic intolerance to functional variation and the interpretation of personal genomes by Petrovski, Slavé, Wang, Quanli, Heinzen, Erin L, Allen, Andrew S, Goldstein, David B

“…A central challenge in interpreting personal genomes is determining which mutations most likely influence disease. Although progress has been made in scoring…”
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Rare-variant collapsing analyses for complex traits: guidelines and applications by Povysil, Gundula, Petrovski, Slavé, Hostyk, Joseph, Aggarwal, Vimla, Allen, Andrew S., Goldstein, David B.

“…The first phase of genome-wide association studies (GWAS) assessed the role of common variation in human disease. Advances optimizing and economizing…”
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Optimizing genomic medicine in epilepsy through a gene-customized approach to missense variant interpretation by Traynelis, Joshua, Silk, Michael, Wang, Quanli, Berkovic, Samuel F, Liu, Liping, Ascher, David B, Balding, David J, Petrovski, Slavé

“…Gene panel and exome sequencing have revealed a high rate of molecular diagnoses among diseases where the genetic architecture has proven suitable for…”
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The intolerance to functional genetic variation of protein domains predicts the localization of pathogenic mutations within genes by Gussow, Ayal B, Petrovski, Slavé, Wang, Quanli, Allen, Andrew S, Goldstein, David B

“…Ranking human genes based on their tolerance to functional genetic variation can greatly facilitate patient genome interpretation. It is well established,…”
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Genome-wide analyses of 200,453 individuals yield new insights into the causes and consequences of clonal hematopoiesis by 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.

“…Clonal hematopoiesis (CH), the clonal expansion of a blood stem cell and its progeny driven by somatic driver mutations, affects over a third of people, yet…”
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Exome-based analysis of cardiac arrhythmia, respiratory control, and epilepsy genes in sudden unexpected death in epilepsy by 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

“…Objective The leading cause of epilepsy‐related premature mortality is sudden unexpected death in epilepsy (SUDEP). The cause of SUDEP remains unknown. To…”
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Annotating pathogenic non-coding variants in genic regions by 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.

“…Identifying the underlying causes of disease requires accurate interpretation of genetic variants. Current methods ineffectively capture pathogenic non-coding…”
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FinnGen provides genetic insights from a well-phenotyped isolated population by 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

“…Population isolates such as those in Finland benefit genetic research because deleterious alleles are often concentrated on a small number of low-frequency…”
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An Exome Sequencing Study to Assess the Role of Rare Genetic Variation in Pulmonary Fibrosis by 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

“…Idiopathic pulmonary fibrosis (IPF) is an increasingly recognized, often fatal lung disease of unknown etiology. The aim of this study was to use whole-exome…”
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One gene, many neuropsychiatric disorders: lessons from Mendelian diseases by Zhu, Xiaolin, Need, Anna C, Petrovski, Slavé, Goldstein, David B

“…Mutations in Mendelian disease genes often lead to distinct clinical presentations, and the same non-specific risk is now apparent for many neuropsychiatric…”
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