Vyzkoušejte nový nástroj s podporou AI
Summon Research Assistant
BETA
Loading…
The genetic component of Brugada syndrome
Nielsen, Morten W., Holst, Anders G., Olesen, Søren-Peter, Olesen, Morten S.
Published in Frontiers in physiology (01.01.2013)
Published in Frontiers in physiology (01.01.2013)
Get full text
Journal Article
Loading…
Evaluating Pathogenicity of Rare Variants From Dilated Cardiomyopathy in the Exome Era
Norton, Nadine, Robertson, Peggy D., Rieder, Mark J., Züchner, Stephan, Rampersaud, Evadnie, Martin, Eden, Li, Duanxiang, Nickerson, Deborah A., Hershberger, Ray E.
Published in Circulation. Cardiovascular genetics (01.04.2012)
Published in Circulation. Cardiovascular genetics (01.04.2012)
Get full text
Journal Article
Loading…
Exome Sequencing Implicates an Increased Burden of Rare Potassium Channel Variants in the Risk of Drug-Induced Long QT Interval Syndrome
Weeke, Peter, Mosley, Jonathan D., Hanna, David, Delaney, Jessica T., Shaffer, Christian, Wells, Quinn S., Van Driest, Sara, Karnes, Jason H., Ingram, Christie, Guo, Yan, Shyr, Yu, Norris, Kris, Kannankeril, Prince J., Ramirez, Andrea H., Smith, Joshua D., Mardis, Elaine R., Nickerson, Deborah, George, Alfred L., Roden, Dan M.
Published in Journal of the American College of Cardiology (15.04.2014)
Published in Journal of the American College of Cardiology (15.04.2014)
Get full text
Journal Article
Loading…
Quantitative trait analysis in sequencing studies under trait-dependent sampling
Lin, Dan-Yu, Zeng, Donglin, Tang, Zheng-Zheng
Published in Proceedings of the National Academy of Sciences - PNAS (23.07.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (23.07.2013)
Get full text
Journal Article
Loading…
Evaluating pathogenic dementia variants in posterior cortical atrophy
Carrasquillo, Minerva M., Barber, Imelda, Lincoln, Sarah J., Murray, Melissa E., Camsari, Gamze Balci, Khan, Qurat ul Ain, Nguyen, Thuy, Ma, Li, Bisceglio, Gina D., Crook, Julia E., Younkin, Steven G., Dickson, Dennis W., Boeve, Bradley F., Graff-Radford, Neill R., Morgan, Kevin, Ertekin-Taner, Nilüfer
Published in Neurobiology of aging (01.01.2016)
Published in Neurobiology of aging (01.01.2016)
Get full text
Journal Article
Loading…
Targeted Next-Generation Sequencing Identifies Pathogenic Variants in Familial Congenital Heart Disease
Blue, Gillian M., Kirk, Edwin P., Giannoulatou, Eleni, Dunwoodie, Sally L., Ho, Joshua W.K., Hilton, Desiree C.K., White, Susan M., Sholler, Gary F., Harvey, Richard P., Winlaw, David S.
Published in Journal of the American College of Cardiology (16.12.2014)
Published in Journal of the American College of Cardiology (16.12.2014)
Get full text
Journal Article
Loading…
Loading…
An adaptive test for meta‐analysis of rare variant association studies
Yang, Tianzhong, Kim, Junghi, Wu, Chong, Ma, Yiding, Wei, Peng, Pan, Wei
Published in Genetic epidemiology (01.01.2020)
Published in Genetic epidemiology (01.01.2020)
Get full text
Journal Article
Loading…
Joint Linkage and Association Analysis with Exome Sequence Data Implicates SLC25A40 in Hypertriglyceridemia
Rosenthal, Elisabeth A., Ranchalis, Jane, Crosslin, David R., Burt, Amber, Brunzell, John D., Motulsky, Arno G., Nickerson, Deborah A., Wijsman, Ellen M., Jarvik, Gail P.
Published in American journal of human genetics (05.12.2013)
Published in American journal of human genetics (05.12.2013)
Get full text
Journal Article
Loading…
STEPS: an efficient prospective likelihood approach to genetic association analyses of secondary traits in extreme phenotype sequencing
Bi, Wenjian, Li, Yun, Smeltzer, Matthew P, Gao, Guimin, Zhao, Shengli, Kang, Guolian
Published in Biostatistics (Oxford, England) (01.01.2020)
Published in Biostatistics (Oxford, England) (01.01.2020)
Get full text
Journal Article
Loading…
New Exome Data Question the Pathogenicity of Genetic Variants Previously Associated With Catecholaminergic Polymorphic Ventricular Tachycardia
Jabbari, Javad, Jabbari, Reza, Nielsen, Morten W., Holst, Anders G., Nielsen, Jonas B., Haunsø, Stig, Tfelt-Hansen, Jacob, Svendsen, Jesper H., Olesen, Morten S.
Published in Circulation. Cardiovascular genetics (01.10.2013)
Published in Circulation. Cardiovascular genetics (01.10.2013)
Get full text
Journal Article
Loading…
Novel non-synonymous mutations of PAX8 in a cohort of Chinese with congenital hypothyroidism
Qian, Fang, Li, Gui-Yu, Wu, Xiang-Jun, Jia, Qin, Lyu, Guan-Ting, Wang, Man-Li, Wang, Jun
Published in Chinese medical journal (05.06.2019)
Published in Chinese medical journal (05.06.2019)
Get full text
Journal Article
Loading…
Mucolipidosis types II and III and non-syndromic stuttering are associated with different variants in the same genes
Raza, M Hashim, Domingues, Carlos E F, Webster, Ronald, Sainz, Eduardo, Paris, Emily, Rahn, Rachel, Gutierrez, Joanne, Chow, Ho Ming, Mundorff, Jennifer, Kang, Chang-soo, Riaz, Naveeda, Basra, Muhammad A R, Khan, Shaheen, Riazuddin, Sheikh, Moretti-Ferreira, Danilo, Braun, Allen, Drayna, Dennis
Published in European journal of human genetics : EJHG (01.04.2016)
Published in European journal of human genetics : EJHG (01.04.2016)
Get full text
Journal Article
Loading…
Analysis of ASB10 variants in open angle glaucoma
Fingert, John H., Roos, Ben R., Solivan-Timpe, Frances, Miller, Kathy A., Oetting, Thomas A., Wang, Kai, Kwon, Young H., Scheetz, Todd E., Stone, Edwin M., Alward, Wallace L.M.
Published in Human molecular genetics (15.10.2012)
Published in Human molecular genetics (15.10.2012)
Get full text
Journal Article
Loading…
Loading…
Global and disease-associated genetic variation in the human Fanconi anemia gene family
Rogers, K. J., Fu, W., Akey, J. M., Monnat, R. J.
Published in Human molecular genetics (20.12.2014)
Published in Human molecular genetics (20.12.2014)
Get full text
Journal Article
Loading…
Exome sequencing identification of a GJB1 missense mutation in a kindred with X-linked spinocerebellar ataxia (SCA-X1)
Caramins, M., Colebatch, J. G., Bainbridge, M. N., Scherer, S. S., Abrams, C. K., Hackett, E. L., Freidin, M. M., Jhangiani, S. N., Wang, M., Wu, Y., Muzny, D. M., Lindeman, R., Gibbs, R. A.
Published in Human molecular genetics (01.11.2013)
Published in Human molecular genetics (01.11.2013)
Get full text
Journal Article
Loading…
Familial rhabdoid tumour 'avant la lettre'-from pathology review to exome sequencing and back again
Witkowski, Leora, Lalonde, Emilie, Zhang, Jian, Albrecht, Steffen, Hamel, Nancy, Cavallone, Luca, May, Sandra Thompson, Nicholson, James C, Coleman, Nicholas, Murray, Matthew J, Tauber, Peter F, Huntsman, David G, Schönberger, Stefan, Yandell, David, Hasselblatt, Martin, Tischkowitz, Marc D, Majewski, Jacek, Foulkes, William D
Published in The Journal of pathology (01.09.2013)
Published in The Journal of pathology (01.09.2013)
Get full text
Journal Article
Loading…
Frequency of germline PALB2 mutations among women with epithelial ovarian cancer
Kotsopoulos, Joanne, Sopik, Victoria, Rosen, Barry, Fan, Isabel, McLaughlin, John R., Risch, Harvey, Sun, Ping, Narod, Steven A., Akbari, Mohammad R.
Published in Familial cancer (01.01.2017)
Published in Familial cancer (01.01.2017)
Get full text
Journal Article
Loading…
Population‐specific single‐nucleotide polymorphism confers increased risk of venous thromboembolism in African Americans
Daneshjou, Roxana, Cavallari, Larisa H., Weeke, Peter E., Karczewski, Konrad J., Drozda, Katarzyna, Perera, Minoli A., Johnson, Julie A., Klein, Teri E., Bustamante, Carlos D., Roden, Dan M., Shaffer, Christian, Denny, Joshua C., Zehnder, James L., Altman, Russ B.
Published in Molecular genetics & genomic medicine (01.09.2016)
Published in Molecular genetics & genomic medicine (01.09.2016)
Get full text
Journal Article