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Human Mutation, ISSN 1059-7794, 12/2016, Volume 37, Issue 12, pp. 1308 - 1317
ABSTRACT High‐throughput next‐generation sequencing such as whole‐exome and whole‐genome sequencing are being rapidly integrated into clinical practice. The... 
ESP | mutations | ExAC | LSDB | Marfan syndrome
Journal Article
EUROPEAN HEART JOURNAL, ISSN 0195-668X, 12/2017, Volume 38, Issue 46, pp. 3461 - 3468
Hypertrophic cardiomyopathy (HCM) exhibits genetic heterogeneity that is dominated by variation in eight sarcomeric genes. Genetic variation in a large number... 
Mendelian genetics | POPULATION | CARDIAC & CARDIOVASCULAR SYSTEMS | ExAC | HCM genetics | Hypertrophic cardiomyopathy | Rare genetic variation | MUTATIONS
Journal Article
European Heart Journal, ISSN 0195-668X, 2017, Volume 38, Issue 46, pp. 3461 - 3468
Hypertrophic cardiomyopathy (HCM) exhibits genetic heterogeneity that is dominated by variation in eight sarcomeric genes. Genetic variation in a large number... 
Mendelian genetics | Hypertrophic cardiomyopathy | Rare genetic variation | ExAC | HCM genetics | Genetic Variation | Cardiomyopathy, Hypertrophic - genetics | Prospective Studies | Sarcomeres - genetics | Humans | Genes - genetics | Female | Male | Mutation - genetics | Case-Control Studies | Basic Science
Journal Article
by Wang, Julia and Al-Ouran, Rami and Hu, Yanhui and Kim, Seon-Young and Wan, Ying-Wooi and Wangler, Michael F and Yamamoto, Shinya and Chao, Katherine R and Chao, Hsiao-Tuan and Comjean, Aram and Mohr, Stephanie E and Adams, David R and Adams, Christopher J and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mashid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Beggs, Alan H and Bellen, Hugo J and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Boone, Braden E and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Clark, Gary D and Cogan, Joy D and Cooper, Cynthia M and Craigen, William J and Davids, Mariska and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Draper, David D and Dries, Annika M and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Esteves, Cecilia and Estwick, Tyra and Fisher, Paul G and Frisby, Trevor S and Frost, Kate and Gahl, William A and Gartner, Valerie and Godfrey, Rena A and Goheen, Mitchell and Golas, Gretchen A and Goldstein, David B and Gordon, Mary G and Gould, Sarah E and Gourdine, Jean-Philippe F and Graham, Brett H and Groden, Catherine A and Gropman, Andrea L and Hackbarth, Mary E and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Hardee, Isabel and Herzog, Matthew R and Holm, Ingrid A and Howerton, Ellen M and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koehler, Alanna E and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Latham, Lea and Latour, Yvonne L and Lau, C. Christopher and Lazar, Jozef and Lee, Paul R and Lee, Hane and Lee, Brendan H and Levy, Shawn E and Levy, Denise J and Lewis, Richard A and Liebendorfer, Adam P and ... and UDN
The American Journal of Human Genetics, ISSN 0002-9297, 06/2017, Volume 100, Issue 6, pp. 843 - 853
One major challenge encountered with interpreting human genetic variants is the limited understanding of the functional impact of genetic alterations on... 
rare diseases | genetic diseases | Diopt | Geno2MP | ExAC | Zfin | variants of unknown significance | FlyBase | MGI | ClinVar | SEQUENCE VARIANTS | PHENOTYPES | DATABASE | GENETICS & HEREDITY | Genetic Variation | Databases, Genetic | Software | Genome, Human | Humans | Molecular Sequence Annotation | Genetic research | Technology application | Research | Genetic variation
Journal Article
Frontiers in Genetics, 06/2017, Volume 8
Mutations in LMNA, encoding nuclear intermediate filament proteins lamins A and C, cause multiple diseases (‘laminopathies’) including muscular dystrophy,... 
progeria | metabolic syndrome | type 2 diabetes | ExAC | dilated cardiomyopathy | FPLD2
Journal Article
Journal of the American College of Cardiology, ISSN 0735-1097, 05/2018, Volume 71, Issue 20, pp. 2293 - 2302
Journal Article
Frontiers in genetics, ISSN 1664-8021, 2017, Volume 8, p. 79
Mutations in , encoding nuclear intermediate filament proteins lamins A and C, cause multiple diseases ('laminopathies') including muscular dystrophy, dilated... 
Journal Article
Journal Article