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Neuron, ISSN 0896-6273, 06/2011, Volume 70, Issue 5, pp. 863 - 885
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2016, Volume 6, Issue 1, p. 38776
Cystic fibrosis (CF) is an autosomal recessive disorder characterized by the accumulation of sticky and heavy mucus that can damage several organs. CF shows... 
DIAGNOSIS | HUMAN GENOME | VAS-DEFERENS | MESSENGER-RNA | DATABASE | MULTIDISCIPLINARY SCIENCES | PHENOTYPES | MUTATIONS | POLYMORPHISM | CONDUCTANCE REGULATOR GENE | CONGENITAL ABSENCE | Proteins | Clonal deletion | Exons | Genetic analysis | Alleles | Cystic fibrosis | Mucus | Cystic fibrosis transmembrane conductance regulator | Vas deferens | Asthma | Hereditary diseases
Journal Article
Frontiers in cardiovascular medicine, ISSN 2297-055X, 2017, Volume 4, p. 11
The development of high-throughput technologies such as next-generation sequencing (NGS) has allowed for thousands of DNA loci to be interrogated... 
Care and treatment | Utilization | Analysis | Medical care | Genetic aspects | Research | Nucleotide sequencing | Cardiovascular diseases | DNA sequencing
Journal Article
Cardiogenetics, ISSN 2035-8253, 02/2018, Volume 8, Issue 1
Variants in the LMNA gene, which encodes Lamin-A/C, have been commonly associated with cardiac conduction system diseases usually accompanying cardiomyopathy.... 
sodium channel | cardiomyopathy | Lamin A/C | atrioventricular block
Journal Article
Cardiogenetics, ISSN 2035-8253, 2015, Volume 5, Issue 1, pp. 13 - 16
We report on the process of post mortem evaluation and genetic testing following the death of a 25-year-old man due to ascending aortic dissection leading to... 
Aortopathy | Familial thoracic aortic aneurysm and dissection | Post mortem genetic testing | MYLK | familial thoracic aortic aneurysm and dissection | post mortem genetic testing | aortopathy
Journal Article
by Anney, Richard J. L and Ripke, Stephan and Anttila, Verneri and Grove, Jakob and Holmans, Peter and Huang, Hailiang and Klei, Lambertus and Lee, Phil H and Medland, Sarah E and Neale, Benjamin and Robinson, Elise and Weiss, Lauren A and Zwaigenbaum, Lonnie and Yu, Timothy W and Wittemeyer, Kerstin and Willsey, A.Jeremy and Wijsman, Ellen M and Werge, Thomas and Wassink, Thomas H and Waltes, Regina and Walsh, Christopher A and Wallace, Simon and Vorstman, Jacob A. S and Vieland, Veronica J and Vicente, Astrid M and Vanengeland, Herman and Tsang, Kathryn and Thompson, Ann P and Szatmari, Peter and Svantesson, Oscar and Steinberg, Stacy and Stefansson, Kari and Stefansson, Hreinn and State, Matthew W and Soorya, Latha and Silagadze, Teimuraz and Scherer, Stephen W and Schellenberg, Gerard D and Sandin, Sven and Sanders, Stephan J and Saemundsen, Evald and Rouleau, Guy A and Rogé, Bernadette and Roeder, Kathryn and Roberts, Wendy and Reichert, Jennifer and Reichenberg, Abraham and Rehnström, Karola and Regan, Regina and Poustka, Fritz and Poultney, Christopher S and Piven, Joseph and Pinto, Dalila and Pericak-Vance, Margaret A and Pejovic-Milovancevic, Milica and Pedersen, Marianne Giørtz and Pedersen, Carsten Bøcker and Paterson, Andrew D and Parr, Jeremy R and Pagnamenta, Alistair T and Oliveira, Guiomar and Nurnberger, John I and Nordentoft, Merete and Murtha, Michael T and Mouga, Susana and Mortensen, Preben Bo and Mors, Ole and Morrow, Eric M and Moreno-De-Luca, Daniel and Monaco, Anthony P and Minshew, Nancy and Merikangas, Alison and McMahon, William M and McGrew, Susan G and Mattheisen, Manuel and Martsenkovsky, Igor and Martin, Donna M and Mane, Shrikant M and Magnusson, Pall and Magalhaes, Tiago and Maestrini, Elena and Lowe, Jennifer K and Lord, Catherine and Levitt, Pat and Martin, Christa Lese and Ledbetter, David H and Leboyer, Marion and Lecouteur, Ann S and Ladd-Acosta, Christine and Kolevzon, Alexander and Klauck, Sabine M and Jacob, Suma and Iliadou, Bozenna and Hultman, Christina M and Hougaard, David M and Hertz-Picciotto, Irva and Hendren, Robert and Hansen, Christine Søholm and Haines, Jonathan L and Guter, Stephen J and ... and Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium and The Autism Spectrum Disorders Working Group of The Psychiatric Genomics Consortium and Gillberg Neuropsychiatry Centre and Sahlgrenska akademin and Göteborgs universitet and Gothenburg University and Gillbergcentrum and Sahlgrenska Academy
Molecular Autism, ISSN 2040-2392, 05/2017, Volume 8, Issue 1, pp. 21 - 17
Background: Over the past decade genome-wide association studies (GWAS) have been applied to aid in the understanding of the biology of traits. The success of... 
Gene-set analysis | Genome-wide association study | Genetic correlation | Neurodevelopment | Schizophrenia | Heritability | Autism spectrum disorder | Meta-analysis | MENTAL-RETARDATION | NEUROSCIENCES | FOXP1 | INTELLECTUAL DISABILITY | RISK LOCI | GENETICS & HEREDITY | COMMON | SCAN | COPY NUMBER VARIATION | LINKAGE | GENOME-WIDE ASSOCIATION | REVEALS | Autism Spectrum Disorder - genetics | Gene Expression | Genetic Predisposition to Disease | Genome-Wide Association Study | Chromosomes, Human, Pair 10 - chemistry | Plasma Membrane Calcium-Transporting ATPases - genetics | Membrane Proteins - genetics | Humans | Repressor Proteins - genetics | Male | Genetic Loci | Transcription Factors - genetics | Forkhead Transcription Factors - genetics | Case-Control Studies | Homeodomain Proteins - genetics | Carrier Proteins - genetics | Schizophrenia - genetics | Schizophrenia - diagnosis | Schizophrenia - physiopathology | Female | Autism Spectrum Disorder - diagnosis | Autism Spectrum Disorder - physiopathology | Genetic aspects | Research | Genetic susceptibility | Risk factors | Pervasive developmental disorders | Autism | Genomes | Gene expression | Life Sciences | Genetics | Autism spectrum disorder, Genome-wide association study, Meta-analysis, Genetic correlation, Heritability, Gene-set analysis, Schizophrenia, Neurodevelopment | genetic | Neurologi | asperger-syndrome | resource exchange | Genetics & Heredity | Neurosciences & Neurology | pervasive developmental disorders | Neurology | copy number variation | neuronal migration | risk loci | de-novo mutations | genome-wide association | mental-retardation | intellectual disability
Journal Article
Scientific Reports, ISSN 2045-2322, 12/2018, Volume 8, Issue 1, pp. 4350 - 9
Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a disorder that may lead to sudden death and can affect humans and other primates. In 2012, the alpha... 
HOMOZYGOSITY | HEART-DISEASE | GORILLAS | EXONIC SPLICING ENHANCERS | TROGLODYTES | MULTIDISCIPLINARY SCIENCES | GREAT APES | POPULATIONS | PATHOLOGY | CHIMPANZEES | Heart | Pathogenicity | Phenotypes | Nucleotide sequence | Cardiomyopathy | Genetic analysis | Population studies | Genomes | Indigenous species | Ventricle | Genotypes | DNA sequencing
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 5/2012, Volume 109, Issue 21, pp. 7974 - 7981
Journal Article
PLoS ONE, ISSN 1932-6203, 12/2015, Volume 10, Issue 12, p. e0143588
Journal Article