Unequal representation of genetic variation across ancestry groups creates healthcare inequality in the application of precision medicine

by Petrovski, Slavé, Goldstein, David B.
Published 2016

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.
Published 2013

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.
Published 2016

Correction: 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.
Published 2013

The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity

by Petrovski, Slavé, Gussow, Ayal B., Wang, Quanli, Halvorsen, Matt, Han, Yujun, Weir, William H., Allen, Andrew S., Goldstein, David B.
Published 2015

Sustained therapeutic response to riboflavin in a child with a progressive neurological condition, diagnosed by whole-exome sequencing

by Shashi, Vandana, Petrovski, Slavé, Schoch, Kelly, Crimian, Rebecca, Case, Laura E., Khalid, Roha, El-Dairi, Maysantoine A., Jiang, Yong-Hui, Mikati, Mohamad A., Goldstein, David B.
Published 2015

Epileptic encephalopathy-causing mutations in DNM1 impair synaptic vesicle endocytosis

by Dhindsa, Ryan S., Bradrick, Shelton S., Yao, Xiaodi, Heinzen, Erin L., Petrovski, Slave, Krueger, Brian J., Johnson, Michael R., Frankel, Wayne N., Petrou, Steven, Boumil, Rebecca M., Goldstein, David B.
Published 2015

Exome sequencing results in successful riboflavin treatment of a rapidly progressive neurological condition

by Petrovski, Slavé, Shashi, Vandana, Petrou, Steven, Schoch, Kelly, McSweeney, Keisha Melodi, Dhindsa, Ryan S., Krueger, Brian, Crimian, Rebecca, Case, Laura E., Khalid, Roha, El-Dairi, Maysantoine A., Jiang, Yong-Hui, Mikati, Mohamad A., Goldstein, David B.
Published 2015

Genomewide Association Study for Determinants of HIV-1 Acquisition and Viral Set Point in HIV-1 Serodiscordant Couples with Quantified Virus Exposure

by Lingappa, Jairam R., Petrovski, Slavé, Kahle, Erin, Fellay, Jacques, Shianna, Kevin, McElrath, M. Juliana, Thomas, Katherine K., Baeten, Jared M., Celum, Connie, Wald, Anna, de Bruyn, Guy, Mullins, James I., Nakku-Joloba, Edith, Farquhar, Carey, Essex, Max, Donnell, Deborah, Kiarie, James, Haynes, Bart, Goldstein, David
Published 2011

Correction: Genomewide Association Study for Determinants of HIV-1 Acquisition and Viral Set Point in HIV-1 Serodiscordant Couples with Quantified Virus Exposure

by Lingappa, Jairam R., Petrovski, Slavé, Kahle, Erin, Fellay, Jacques, Shianna, Kevin, McElrath, M. Juliana, Thomas, Katherine K., Baeten, Jared M., Celum, Connie, Wald, Anna, de Bruyn, Guy, Mullins, James I., Nakku-Joloba, Edith, Farquhar, Carey, Essex, Max, Donnell, Deborah, Kiarie, James, Haynes, Bart, Goldstein, David
Published 2012

Whole-exome sequencing in undiagnosed genetic diseases: interpreting 119 trios

by Zhu, Xiaolin, Petrovski, Slavé, Xie, Pingxing, Ruzzo, Elizabeth K., Lu, Yi-Fan, McSweeney, K. Melodi, Ben-Zeev, Bruria, Nissenkorn, Andreea, Anikster, Yair, Oz-Levi, Danit, Dhindsa, Ryan S., Hitomi, Yuki, Schoch, Kelly, Spillmann, Rebecca C., Heimer, Gali, Marek-Yagel, Dina, Tzadok, Michal, Han, Yujun, Worley, Gordon, Goldstein, Jennifer, Jiang, Yong-Hui, Lancet, Doron, Pras, Elon, Shashi, Vandana, McHale, Duncan, Need, Anna C., Goldstein, David B.
Published 2015

Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A

by Kasperavičiūtė, Dalia, Catarino, Claudia B., Matarin, Mar, Leu, Costin, Novy, Jan, Tostevin, Anna, Leal, Bárbara, Hessel, Ellen V. S., Hallmann, Kerstin, Hildebrand, Michael S., Dahl, Hans-Henrik M., Ryten, Mina, Trabzuni, Daniah, Ramasamy, Adaikalavan, Alhusaini, Saud, Doherty, Colin P., Dorn, Thomas, Hansen, Jörg, Krämer, Günter, Steinhoff, Bernhard J., Zumsteg, Dominik, Duncan, Susan, Kälviäinen, Reetta K., Eriksson, Kai J., Kantanen, Anne-Mari, Pandolfo, Massimo, Gruber-Sedlmayr, Ursula, Schlachter, Kurt, Reinthaler, Eva M., Stogmann, Elisabeth, Zimprich, Fritz, Théâtre, Emilie, Smith, Colin, O’Brien, Terence J., Meng Tan, K., Petrovski, Slave, Robbiano, Angela, Paravidino, Roberta, Zara, Federico, Striano, Pasquale, Sperling, Michael R., Buono, Russell J., Hakonarson, Hakon, Chaves, João, Costa, Paulo P., Silva, Berta M., da Silva, António M., de Graan, Pierre N. E., Koeleman, Bobby P. C., Becker, Albert, Schoch, Susanne, von Lehe, Marec, Reif, Philipp S., Rosenow, Felix, Becker, Felicitas, Weber, Yvonne, Lerche, Holger, Rössler, Karl, Buchfelder, Michael, Hamer, Hajo M., Kobow, Katja, Coras, Roland, Blumcke, Ingmar, Scheffer, Ingrid E., Berkovic, Samuel F., Weale, Michael E., Delanty, Norman, Depondt, Chantal, Cavalleri, Gianpiero L., Kunz, Wolfram S., Sisodiya, Sanjay M.
Published 2013

Copy number variant analysis from exome data in 349 patients with epileptic encephalopathy

by Allen, Andrew S., Berkovic, Samuel F., Coe, Bradley P., Cook, Joseph, Cossette, Patrick, Delanty, Norman, Dlugos, Dennis, Eichler, Evan E., Epstein, Michael P., Glauser, Tracy, Goldstein, David B., Heinzen, Erin L., Johnson, Michael R., Krumm, Nik, Kuzniecky, Ruben, Lowenstein, Daniel H., Marson, Anthony G., Mefford, Heather C., Nelson, Ben, Esmaeeli Nieh, Sahar, O'Brien, Terence J., Ottman, Ruth, Petrou, Stephen, Petrovski, Slavé, Poduri, Annapurna, Raja, Archana, Ruzzo, Elizabeth K., Scheffer, Ingrid E., Sherr, Elliott, Abou‐Khalil, Bassel, Alldredge, Brian K., Andermann, Eva, Andermann, Frederick, Amron, Dina, Bautista, Jocelyn F., Berkovic, Samuel F., Boro, Alex, Cascino, Gregory, Consalvo, Damian, Crumrine, Patricia, Devinsky, Orrin, Dlugos, Dennis, Epstein, Michael P., Fiol, Miguel, Fountain, Nathan B., French, Jacqueline, Friedman, Daniel, Geller, Eric B., Glauser, Tracy, Glynn, Simon, Haut, Sheryl R., Hayward, Jean, Helmers, Sandra L., Joshi, Sucheta, Kanner, Andres, Kirsch, Heidi E., Knowlton, Robert C., Kossoff, Eric H., Kuperman, Rachel, Kuzniecky, Ruben, Lowenstein, Daniel H., McGuire, Shannon M., Motika, Paul V., Novotny, Edward J., Ottman, Ruth, Paolicchi, Juliann M., Parent, Jack, Park, Kristen, Poduri, Annapurna, Scheffer, Ingrid E., Shellhaas, Renée A., Sherr, Elliott, Shih, Jerry J., Singh, Rani, Sirven, Joseph, Smith, Michael C., Sullivan, Joe, Thio, Liu Lin, Venkat, Anu, Vining, Eileen P.G., Von Allmen, Gretchen K., Weisenberg, Judith L., Widdess‐Walsh, Peter, Winawer, Melodie R.
Published 2015