Metadata Search
ACMG Foundation for Genetic and Genomic Medicine
Page 1 of 3 results
Sort by: relevance publication year Download as CSV

Heterozygous variants in ACTL6A , encoding a component of the BAF complex, are associated with intellectual disability

Journal Article published 10 Jul 2017 in Human Mutation volume 38 issue 10 on pages 1365 to 1371

Research funded by ACMG Foundation for Genetic and Genomic Medicine | Osteogenesis Imperfecta Foundation | Baylor College of Medicine Intellectual and Developmental Disabilities Research (HD024064) | Eunice Kennedy Shriver National Institute of Child Health and Human Development | National Institutes of Health (U54HG003273, U54HG006542, T32 GM07526, K08DK106453, P30 AI036211, P30 CA125123, S10 RR024574) | ZonMw (917-86-319 and 912-12-109)

Authors: Ronit Marom, Mahim Jain, Lindsay C. Burrage, I-Wen Song, Brett H. Graham, Chester W. Brown, Servi J.C. Stevens, Alexander P.A. Stegmann, Andrew T. Gunter, Julie D. Kaplan, Ralitza H. Gavrilova, Marwan Shinawi, Jill A. Rosenfeld, Yangjin Bae, Alyssa A. Tran, Yuqing Chen, James T. Lu, Richard A. Gibbs, Christine Eng, Yaping Yang, Justine Rousseau, Bert B.A. de Vries, Philippe M. Campeau, Brendan Lee

Fast selection of geologic models honoring CO 2 plume monitoring data using Hausdorff distance and scaled connectivity analysis

Journal Article published Apr 2017 in International Journal of Greenhouse Gas Control volume 59 on pages 40 to 57

Research funded by ACMG Foundation for Genetic and Genomic Medicine | Statoil | Shell | BP | Halliburton/Landmark Graphics | U.S. Department of Energy (DE-DE-FE0004962) | Geologic CO2 Storage Industrial Associates Project | ExxonMobil Research and Engineering Company | Luminant | Chevron | U.S. Geological Survey

Authors: Hoonyoung Jeong, Sanjay Srinivasan

Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene

Journal Article published Nov 2014 in Molecular Genetics and Metabolism volume 113 issue 3 on pages 207 to 212

Research funded by ACMG Foundation for Genetic and Genomic Medicine | NIH/NIGMS (NIH T32 GM07526, R01 GM098387) | National Institutes of Health (NIAID P30AI036211, NCI P30CA125123, NCRR S10RR024574)

Authors: Lindsay C. Burrage, Sha Tang, Jing Wang, Taraka R. Donti, Magdalena Walkiewicz, J. Michael Luchak, Li-Chieh Chen, Eric S. Schmitt, Zhiyv Niu, Rodrigo Erana, Jill V. Hunter, Brett H. Graham, Lee-Jun Wong, Fernando Scaglia