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  • Showing 1-13 of 13 Results
2016
High-throughput discovery of novel developmental phenotypes.Dickinson, ME, Flenniken AM, Ji X., Teboul L., Wong MD, White JK, Meehan TF, Weninger WJ, Westerberg H., Adissu H., Baker CN, Bower L., Brown JM, Caddle LB, Chiani F., Clary D., Cleak J., Daly M. J., Denegre JM, Doe B., et al. Nature, 2016/09/14, (2016) Read More / View Supplemental Materials
Abstract
Analysis of protein-coding genetic variation in 60,706 humans.Lek, M., Karczewski KJ, Minikel EV, Samocha KE, Banks E., Fennell T., O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T., Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K., Zhao F., Zou J., Pierce-Hoffman E., Berghout J., Cooper DN, et al. Nature, 2016/08/17, Volume 536, Issue 7616, p.285-91, (2016) Read More / View Supplemental Materials
Abstract
Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.Ruderfer, DM, Hamamsy T., Lek M., Karczewski KJ, Kavanagh D., Samocha KE, Exome Aggregation Consortium, Daly M. J., Macarthur DG, Fromer M., and Purcell SM Nature genetics, 2016/08/17, (2016) Read More / View Supplemental Materials
Abstract
Network Analysis of Genome-Wide Selective Constraint Reveals a Gene Network Active in Early Fetal Brain Intolerant of Mutation.Choi, J., Shooshtari P., Samocha KE, Daly M. J., and Cotsapas C. PLoS genetics, 2016/06/01, Volume 12, Issue 6, p.e1006121, (2016) Read More / View Supplemental Materials
Abstract
Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population.Robinson, EB, St Pourcain B., Anttila V., Kosmicki JA, Bulik-Sullivan B., Grove J., Maller J., Samocha KE, Sanders SJ, Ripke S., Martin J., Hollegaard MV, Werge T., Hougaard DM, iPSYCH-SSI-Broad Autism Group, Neale BM, Evans DM, Skuse D., Mortensen PB, Børglum AD, et al. Nature genetics, 2016/03/21, (2016) Read More / View Supplemental Materials
Abstract
Quantifying prion disease penetrance using large population control cohorts.Minikel, EV, Vallabh SM, Lek M., Estrada K., Samocha KE, Sathirapongsasuti JF, McLean CY, Tung JY, Yu LP, Gambetti P., Blevins J., Zhang S., Cohen Y., Chen W., Yamada M., Hamaguchi T., Sanjo N., Mizusawa H., Nakamura Y., Kitamoto T., et al. Science translational medicine, 2016/01/20, Volume 8, Issue 322, p.322ra9, (2016) Read More / View Supplemental Materials
Abstract
2015
Interpreting de novo Variation in Human Disease Using denovolyzeR.Ware, JS, Samocha KE, Homsy J., and Daly M. J. Current protocols in human genetics / editorial board, Jonathan L. Haines ... [et al.], 2015/10/06, Volume 87, p.7.25.1-7.25.15, (2015) Read More / View Supplemental Materials
Abstract
A respiratory chain controlled signal transduction cascade in the mitochondrial intermembrane space mediates hydrogen peroxide signaling.Patterson, HC, Gerbeth C., Thiru P., Vögtle NF, Knoll M., Shahsafaei A., Samocha KE, Huang CX, Harden MM, Song R., Chen C., Kao J., Shi J., Salmon W., Shaul YD, Stokes MP, Silva JC, Bell GW, Macarthur DG, Ruland J., et al. Proceedings of the National Academy of Sciences of the United States of America, 2015/10/05, (2015) Read More / View Supplemental Materials
Abstract
Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.Sanders, SJ, He X., Willsey AJ, Ercan-Sencicek AG, Samocha KE, Cicek AE, Murtha MT, Bal VH, Bishop SL, Dong S., Goldberg AP, Jinlu C., Keaney JF 3rd, Klei L., Mandell JD, Moreno-De-Luca D., Poultney CS, Robinson EB, Smith L., Solli-Nowlan T., et al. Neuron, 2015/09/23, Volume 87, Issue 6, p.1215-33, (2015) Read More / View Supplemental Materials
Abstract
2014
A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy.Muona, M., Berkovic SF, Dibbens LM, Oliver KL, Maljevic S., Bayly MA, Joensuu T., Canafoglia L., Franceschetti S., Michelucci R., Markkinen S., Heron SE, Hildebrand MS, Andermann E., Andermann F., Gambardella A., Tinuper P., Licchetta L., Scheffer IE, Criscuolo C., et al. Nature genetics, 2014/11/17, (2014) Read More / View Supplemental Materials
Abstract
Autism spectrum disorder severity reflects the average contribution of de novo and familial influences.Robinson, EB, Samocha KE, Kosmicki JA, McGrath L., Neale BM, Perlis RH, and Daly M. J. Proceedings of the National Academy of Sciences of the United States of America, 2014/10/21, Volume 111, Issue 42, p.15161-5, (2014) Read More / View Supplemental Materials
Abstract
A framework for the interpretation of de novo mutation in human disease.Samocha, KE, Robinson EB, Sanders SJ, Stevens C., Sabo A., McGrath LM, Kosmicki JA, Rehnström K., Mallick S., Kirby A., Wall DP, Macarthur DG, Gabriel SB, DePristo M., Purcell SM, Palotie A., Boerwinkle E., Buxbaum JD, Cook EH Jr, Gibbs RA, et al. Nature genetics, 2014/08/03, (2014) Read More / View Supplemental Materials
Abstract
2012
Patterns and rates of exonic de novo mutations in autism spectrum disorders.Neale, BM, Kou Y., Liu L., Ma'ayan A., Samocha KE, Sabo A., Lin CF, Stevens C., Wang LS, Makarov V., Polak P., Yoon S., Maguire J., Crawford EL, Campbell NG, Geller ET, Valladares O., Schafer C., Liu H., Zhao T., et al. Nature, 2012/04/04, (2012) Read More / View Supplemental Materials
Abstract
  • Showing 1-13 of 13 Results