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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Enhancer Domains Predict Gene Pathogenicity and Inform Gene Discovery in Complex Disease von Wang, Xinchen, Goldstein, David B.

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Rare variants create synthetic genome-wide associations von Dickson, Samuel P, Wang, Kai, Krantz, Ian, Hakonarson, Hakon, Goldstein, David B

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Uncovering the roles of rare variants in common disease through whole-genome sequencing von Goldstein, David B, Cirulli, Elizabeth T

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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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MicroRNAs in epilepsy: pathophysiology and clinical utility von Henshall, David C, Prof, Hamer, Hajo M, Prof, Pasterkamp, R Jeroen, Prof, Goldstein, David B, Prof, Kjems, Jørgen, Prof, Prehn, Jochen H M, Prof, Schorge, Stephanie, PhD, Lamottke, Kai, PhD, Rosenow, Felix, MD

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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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The End of Genetics: Designing Humanity's DNA von Goldstein, David B

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Rare genetic causes of complex kidney and urological diseases von Groopman, Emily E., Povysil, Gundula, Goldstein, David. B., Gharavi, Ali G.

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The Intolerance of Regulatory Sequence to Genetic Variation Predicts Gene Dosage Sensitivity von Petrovski, Slavé, Gussow, Ayal B, Wang, Quanli, Halvorsen, Matt, Han, Yujun, Weir, William H, Allen, Andrew S, Goldstein, David B

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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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Clinical application of exome sequencing in undiagnosed genetic conditions von Need, Anna C, Shashi, Vandana, Hitomi, Yuki, Schoch, Kelly, Shianna, Kevin V, McDonald, Marie T, Meisler, Miriam H, Goldstein, David B

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Which evolutionary processes influence natural genetic variation for phenotypic traits? von Mitchell-Olds, Thomas, Willis, John H, Goldstein, David B

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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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A framework for the investigation of rare genetic disorders in neuropsychiatry von Sanders, Stephan J., Sahin, Mustafa, Hostyk, Joseph, Thurm, Audrey, Jacquemont, Sebastien, Avillach, Paul, Douard, Elise, Martin, Christa L., Modi, Meera E., Moreno-De-Luca, Andres, Raznahan, Armin, Anticevic, Alan, Dolmetsch, Ricardo, Feng, Guoping, Geschwind, Daniel H., Glahn, David C., Goldstein, David B., Ledbetter, David H., Mulle, Jennifer G., Pasca, Sergiu P., Samaco, Rodney, Sebat, Jonathan, Pariser, Anne, Lehner, Thomas, Gur, Raquel E., Bearden, Carrie E.

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ATAV: a comprehensive platform for population-scale genomic analyses von Ren, Zhong, Povysil, Gundula, Hostyk, Joseph A, Cui, Hongzhu, Bhardwaj, Nitin, Goldstein, David B

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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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Mutation in TECPR2 Reveals a Role for Autophagy in Hereditary Spastic Paraparesis von Oz-Levi, Danit, Ben-Zeev, Bruria, Ruzzo, Elizabeth K., Hitomi, Yuki, Gelman, Amir, Pelak, Kimberly, Anikster, Yair, Reznik-Wolf, Haike, Bar-Joseph, Ifat, Olender, Tsviya, Alkelai, Anna, Weiss, Meira, Ben-Asher, Edna, Ge, Dongliang, Shianna, Kevin V., Elazar, Zvulun, Goldstein, David B., Pras, Elon, Lancet, Doron

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Genome-wide association studies for complex traits: consensus, uncertainty and challenges von McCarthy, Mark I, Abecasis, Gonçalo R, Cardon, Lon R, Goldstein, David B, Little, Julian, Ioannidis, John P. A, Hirschhorn, Joel N

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Genetic variation in IL28B and spontaneous clearance of hepatitis C virus von Ge, Dongliang, Alexander, Graeme, Rosen, Hugo R, Tobler, Leslie H, Goldstein, David B, McHutchison, John G, Goedert, James J, Thio, Chloe L, Busch, Michael P, Qi, Ying, O'hUigin, Colm, Kidd, Judith, Kidd, Kenneth, Khakoo, Salim I, Donfield, Sharyne M, Martin, Maureen P, Carrington, Mary, Thomas, David L, Kirk, Gregory D

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