Results 101 to 110 of about 5,436,069 (302)
RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang +21 morewiley +1 more sourceGenotyping-by-Sequencing: efficiency and reproducibility checks
, 2015 Genotyping-by-Sequencing (GBS) has the potential to be a cost effective, reproducible and high-throughput SNP genotyping method. We have been investigating GBS in a number of livestock species, with an emphasis on Sheep.Rudiger Brauning (47247), Ken Dodds (3501542), Shannon Clarke (3504989), John McEwan (45371), Tracey Van Stijn (10380614) +4 morecore The Metabochip, a Custom Genotyping Array for Genetic Studies of Metabolic, Cardiovascular, and Anthropometric Traits [PDF]
, 2012 Genome-wide association studies have identified hundreds of loci for type 2 diabetes, coronary artery disease and myocardial infarction, as well as for related traits such as body mass index, glucose and insulin levels, lipid levels, and blood pressure ...Kang, HM, Boehnke, M., Kathleen Stirrups, Ding, J., Abecasis, Gonçalo R., Samani, NJ, Winckler Wendy, Sanna, Serena, Teslovich, T.M., McCarthy, Mark I, Teslovich, Tanya M., Pfeufer, Arne, Kathiresan, S., Morris Andrew P., Potter, S, Wheeler, E., Boehnke, M, Ruth J. F. Loos, Sanna, S, Jackson, Anne U., Melissa Parkin (145722), Joel N Hirschhorn, Randall, Joshua C, Sanna, S., Palmer, C.D., Hirschhorn, Joel, Heid Iris M., Wendy Winckler (145732), Chines Peter S., S. Potter (6187), Palmer, CD, Winckler, Wendy, Barroso, Inês, S. Sanna (7609256), Erdmann Jeanette, Loos, Ruth J F, N. Robertson (61307), D. Altshuler (7606010), Randall, J.C., Frayling, Timothy M., Fuchsberger Christian, Heid, I.M., C. D. Palmer (7626644), Altshuler, D., E. Wheeler (4607599), Speliotes, E.K., N. W. Rayner (7626794), Newton-Cheh Christopher, Joshua C. Randall (145712), Munroe, PB, Kilpeläinen, T.O., Cecilia M Lindgren, Stirrups, K., Voight, Benjamin F., Mulas Antonella, Potter, Simon, Parkin, M, Chines, P.S., Serena Sanna (145737), Cameron D Palmer, Gonçalo R Abecasis, Mark I. Mccarthy, Francesco Cucca (145742), J. N. Hirschhorn (7609139), Pfeufer Arne, Johnson, T, Michael Boehnke (145750), Sidore, Carlo, Johnson, T., T. M. Teslovich (7683197), Eleanor Wheeler, R. Saxena (7608878), I. Prokopenko (7608875), Antonella Mulas, Maguire, J., Tuomas O. Kilpeläinen (145704), Peter S Chines, T. O. Kilpeläinen (7683194), McCarthy, MI, C. M. Lindgren (7611374), N. William Rayner (21703), Benjamin F. Voight, Voight Benjamin F., McCarthy Mark I., Li, Y.M., Peter S. Chines, Saxena, R, A. Pfeufer (7670843), Morris, Andrew, Antonella Mulas (145739), Hirschhorn Joel N., Gonçalo R. Abecasis (36598), Prokopenko, Inga, Morris, AP, Teslovich, Tanya M, I. M. Heid (7611266), Schunkert, H, Carlo Sidore (145691), Kilpeläinen, TO, P. S. Chines (7626599), Robertson, N, Frayling Timothy M., Deloukas Panos, Cucca, F., Abecasis, G.R., N. J. Samani (7591811), Noël P. Burtt, Kang, H.M., Schunkert, H., Morris, Andrew P, Chines, Peter S, B. F. Voight (7605833), P. B. Munroe (7602386), Neil Robertson, Erdmann, Jeanette, Maguire, Jared, Chines, PS, Loos, Ruth J. F., Inga Prokopenko (43252), Li, YM, Parkin Melissa, Erdmann, J., McCarthy, Mark, Loos, RJF, Potter Simon, Munroe, Patricia B., Richa Saxena (28290), Yanming Li (145698), Andrew P Morris, Jackson, A.U., Robertson, N., Et Al, Oskari Kilpeläinen, Tuomas, Noël P. Burtt (145695), E. K. Speliotes (7611380), Nagaraja, Ramaiah, Iris M Heid, Winckler, W, Sanna Serena, Rayner, N.W., Deloukas, P., Fuchsberger, Christian, Erdmann, J, S. Kathiresan (7606013), Toby Johnson, Joel N. Hirschhorn, Iris M. Heid, Neil Robertson (25148), Tanya M. Teslovich (145718), F. Cucca (7683212), Frayling, TM, W. Winckler (7683209), Toby Johnson (43283), Jackson Anne U., Hyun Min Kang, McCarthy, M.I., Ruth J F Loos, Morris, Andrew P., Munroe, P.B., J. Ding (2126038), Parkin, M., Boehnke Michael, N William Rayner, M. Boehnke (7605344), David Altshuler, Burtt, Noël P., Deloukas, Panos, Jackson, Anne U, Burtt, NP, Melissa Parkin, Prokopenko Inga, Nicole Soranzo Elizabeth K. Speliotes, Newton-Cheh, C, A. Mulas (7626920), Abecasis, GR, Jared Maguire (145720), Iris M. Heid (87553), Speliotes, EK, Carlo Sidore, Benjamin F. Voight (145685), Kilpelaeinen, TO, Cucca, Francesco, T. Johnson (7602368), Mark I McCarthy, Li Yanming, Robertson Neil, Hirschhorn, Joel N, Ding Jun, Panos Deloukas (21564), David Altshuler (27754), Maguire, J, Sidore, C., Soranzo Nicole, Ding, J, Yanming Li, Fuchsberger, C., Andrew P. Morris, Kang, Hyun Min, Burtt, Noël P, Wheeler, Eleanor, Joel N. Hirschhorn (131545), Kilpeläinen, Tuomas O., Anne U Jackson, Altshuler, David, Nagaraja, R, Palmer Cameron D., Sidore, C, Benjamin F Voight, Panos Deloukas, Peter S. Chines (145692), Inês Barroso (2144), H. M. Kang (7626701), Timothy M. Frayling, Munroe, Patricia B, Heid, Iris M., Lindgren, Cecilia M., Deloukas, P, Jackson, AU, Citable Link, Jeanette Erdmann (44256), Citation Voight, Wendy Winckler, Nagaraja, R., Serena Sanna, Y. Li (696089), Speliotes, Elizabeth K, Gonçalo R. Abecasis, Samani, Nilesh J., Robertson, Neil, Ruth J. F. Loos (110224), Newton Cheh, C, Lindgren, Cecilia, Wheeler, E, Voight, Benjamin F, Arne Pfeufer, Stirrups Kathleen, G. R. Abecasis (7602524), Newton-Cheh, Christopher, Francesco Cucca, Soranzo, N, Nilesh J. Samani (60118), Speliotes, Elizabeth K., Jeanette Erdmann, Schunkert Heribert, Simon Potter (145724), Altshuler David, Hyun Min Kang (145687), Heid, IM, Fuchsberger, C, Mark I. McCarthy (145748), Tuomas O. Kilpeläinen, Newton-Cheh, C., A. U. Jackson (7609325), Voight, BF, R. J. Loos (7608845), Inga Prokopenko, Lindgren, Cecilia M, Joshua C Randall, Chines, Peter S., Ramaiah Nagaraja, Burtt, N.P., Jun Ding (80820), Barroso, I., Timothy M Frayling, Andrew P. Morris (145709), Pfeufer, A., Heid, Iris M, Ding, Jun, Rayner N. William, Samani, N.J., Kathiresan, S, Speliotes Elizabeth K., Altshuler, D, I. Barroso (7609532), Palmer, Cameron D, Patricia B Munroe, Ramaiah Nagaraja (2394), Pfeufer, A, Soranzo, N., Boehnke, Michael, Burtt Noël P., Arne Pfeufer (76634), Eleanor Wheeler (28941), Sekar Kathiresan (60585), Parkin, Melissa, Sidore Carlo, Cecilia M. Lindgren (145706), Maguire Jared, C. Newton-Cheh (7602563), Patricia B. Munroe (145744), H. Schunkert (7603670), Rayner, N William, Randall, JC, Saxena Richa, McCarthy, Mark I., Saxena, Richa, Frayling, Timothy M, Patricia B. Munroe, Li, Y, Abecasis, Gonçalo R, Winckler, W., Nilesh J. Samani, Heribert Schunkert (44257), Kang Hyun Min, Prokopenko, I, Li, Yanming, N. Soranzo (7608857), Christian Fuchsberger (76512), Timothy M. Frayling (145700), Saxena, R., Samani Nilesh J., Kathleen Stirrups (145729), Teslovich, TM, Nicole Soranzo (12361), Sekar Kathiresan, Samani, Nilesh J, J. Maguire (7683200), Hirschhorn, J.N., Tanya M Teslovich, Inês Barroso, Stirrups, K, Palmer, Cameron Douglas, Palmer, Cameron D., Prokopenko, I., Soranzo, Nicole, C. Sidore (7683188), Rayner, N. William, Johnson, Toby, Voight, B.F., N. William Rayner, Randall, Joshua C., Jun Ding, Lindgren Cecilia M., Elizabeth K Speliotes, Richa Saxena, Cameron D. Palmer, Christopher Newton-Cheh, Cecilia M. Lindgren, Elizabeth K. Speliotes (145716), Nagaraja Ramaiah, Nicole Soranzo, Johnson Toby, Loos, RJ, Cucca, F, Loos Ruth J. F., Mulas, Antonella, Abecasis Gonçalo R., Anne U. Jackson (145702), Mulas, A, Teslovich Tanya M., Randall Joshua C., Rayner, NW, Heribert Schunkert, Barroso, I, Cameron D. Palmer (131509), Stirrups, Kathleen, Hirschhorn, Joel N., P. Deloukas (7603691), Barroso Inês, Gibson, Greg, Lindgren, C.M., Michael Boehnke, Schunkert, Heribert, Lindgren, CM, Loos, R.J.F., Noël P Burtt, Munroe Patricia B., C. Fuchsberger (7683191), T. M. Frayling (7608959), J. C. Randall (7611377), Kathiresan, Sekar, Frayling, T.M., Jared Maguire, M. Parkin (7683203), Christopher Newton-Cheh (79953), Tuomas O Kilpeläinen, J. Erdmann (7603664), Wheeler Eleanor, Morris, A.P., Potter, S., Kathiresan Sekar, Mulas, A., Christian Fuchsberger, Joshua C. R, Cucca Francesco, K. Stirrups (7683206), M. I. McCarthy (7609121), Simon Potter, Anne U. Jackson, Hirschhorn, JN, A. P. Morris (7611419), N. P. Burtt (7605932), Benjamin F, Nilesh J Samani, R. Nagaraja (7612157), Kilpeläinen Tuomas O. +395 morecore +1 more sourceNeurochemical Endpoints to Inform Early‐Stage Trials of Spinocerebellar Ataxia 2 and 3 in a Multisite Setting
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
Neurochemical levels measured by brain MR spectroscopy (MRS) have been proposed as endpoints for clinical trials in early‐stage spinocerebellar ataxia (SCA) trials. We tested their trial‐readiness by quantifying neurochemicals in three affected brain regions in early‐stage cohorts of SCA2 and SCA3, examining their reproducibility in ...James M. Joers, Yaqiao Wei, Dinesh K. Deelchand, Adam Berrington, Young Woo Park, Guita Banan, Michal Povazan, Jens T. Rosenberg, André J. W. van der Kouwe, Tetsuo Ashizawa, Khalaf O. Bushara, Chiadi U. Onyike, Sub H. Subramony, Jeremy D. Schmahmann, Brian J. Soher, Peter B. Barker, Thomas H. Mareci, Eva‐Maria Ratai, Lynn E. Eberly, Gülin Öz +19 morewiley +1 more sourceMALDI-TOF mass spectrometry in transfusion medicine
Journal of Associated Medical SciencesMatrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS) is a valuable tool in clinical research. In transfusion medicine, DNA-based genotyping is increasingly replacing serological methods for precise blood group ...Teerakul Arpornsuwan, Sittiruk Roytrakuldoaj +1 more sourceGenotyping-by-Sequencing - Development in livestock
, 2015 Recent advances in next generation sequencing technology have increased the output/cost to a level that where genotyping-by-sequencing (GBS) in livestock and plant crops as well as aquaculture species can be considered. GBS has the potential to be a cost Rudiger Brauning (47247), Ken Dodds (3501542), Shannon Clarke (3504989), John McEwan (45371), Tracey Van Stijn (10380614) +4 morecore Genotyping pooled DNA using 100K SNP microarrays: a step towards genomewide association scans [PDF]
, 2006 The identification of quantitative trait loci (QTLs) of small effect size that underlie complex traits poses a particular challenge for geneticists due to the large sample sizes and large numbers of genetic markers required for genomewide association ...Plomin, R., Meaburn, Emma L., Leonard C. Schalkwyk, Robert Plomin, Emma Meaburn, Butcher, L.M., Plomin, R, Butcher, LM, Meaburn, E, Schalkwyk, LC, Schalkwyk, L.C., Butcher, L M, Schalkwyk, L C, Lee M. Butcher, Meaburn, EL +14 morecore +1 more sourceBi‐ and Mono‐Allelic RFC1 Expansion in a North American Cohort With Idiopathic Axonal Neuropathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective
RFC1 biallelic repeat expansion is increasingly recognized as a cause of chronic idiopathic axonal polyneuropathy (CIAP), but it remains challenging to know who to test. This study aims to determine the prevalence of biallelic and monoallelic RFC1 expansions and their corresponding neuropathy phenotypes in CIAP patients and identify ...Amro M. Stino, Lavanya Muthukumar, Evan L. Reynolds, Peter Todd, Sinem Ovunc, Sheng Chih Jin, Zitian Tang, Simone Thomas, PNRR Study Group, Ahmet Höke, Brian C. Callaghan, Sarah Berth, Vinay Chaudhry, David Cornblath, Leana Doherty, Lindsey Hayes, Hristelina Ilieva, Thomas Lloyd, Mohammad Khoshnoodi, Brett McCray, Brett Morrison, Bipasha Mukherjee‐Clavin, Lyle Ostrow, Michael Polydefkis, Ricardo Roda, Charlotte Sumner +25 morewiley +1 more source
