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Lancet, The, ISSN 0140-6736, 2010, Volume 375, Issue 9725, pp. 1525 - 1535
Journal Article
2011, Methods in molecular biology, ISBN 9781617379826, Volume 709., xiii, 382
Book
The American Journal of Human Genetics, ISSN 0002-9297, 05/2013, Volume 92, Issue 5, pp. 820 - 826
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2016, Volume 99, Issue 4, pp. 831 - 845
ATPase family AAA-domain containing protein 3A (ATAD3A) is a nuclear-encoded mitochondrial membrane protein implicated in mitochondrial dynamics, nucleoid... 
de novo variant | optic atrophy | neuropathy | CNV | cardiomyopathy | whole-exome sequencing | ATAD3A | dominant negative | mitochondrial dynamics | LOSS-OF-FUNCTION | DROSOPHILA-MELANOGASTER | GENOMIC DISORDERS | DOMAIN-CONTAINING 3A | GENETICS & HEREDITY | DEVELOPMENTAL DELAY | TRANSMISSION GENETICS | MOLECULAR FINDINGS | OPTIC ATROPHY | CPG DINUCLEOTIDES | COPY-NUMBER VARIATION | Neurons - pathology | Humans | Child, Preschool | Infant | Male | Developmental Disabilities - genetics | Mitochondrial Proteins - genetics | Nervous System Diseases - genetics | Drosophila melanogaster - genetics | Muscles - pathology | Young Adult | Cardiomyopathies - genetics | Fibroblasts | Adult | Female | Nervous System Diseases - metabolism | Child | Infant, Newborn | Nervous System Diseases - pathology | Optic Atrophy - genetics | ATPases Associated with Diverse Cellular Activities | Muscle Hypotonia - genetics | Membrane Proteins - genetics | DNA Copy Number Variations - genetics | Mitochondria - metabolism | Mitochondria - pathology | Syndrome | Homozygote | Phenotype | Animals | Axons - pathology | Alleles | Polymorphism, Single Nucleotide - genetics | Adenosine Triphosphatases - genetics | Mutation | Allelomorphism | Nervous system diseases | Genetic aspects | Genetic variation | Health aspects | Adenosine triphosphatase | Proteins | Genotype & phenotype | Genetics | Mitochondria | Membranes | Neurological disorders | Index Medicus
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 08/2014, Volume 35, Issue 8, pp. 983 - 989
By way of whole‐exome sequencing, we identified a homozygous missense mutation in VARS2 in one subject with microcephaly and epilepsy associated with isolated... 
aminoacyl tRNA syntethases | TARS2 | encephalomyopathy | VARS2 | OXPHOS defect | mitochondrial disease | Encephalomyopathy | Aminoacyl tRNA syntethases | Mitochondrial disease | CELLS | CARDIOMYOPATHY | INVOLVEMENT | BRAIN-STEM | TRANSFER-RNA SYNTHETASES | LEUKOENCEPHALOPATHY | GENE | DISEASE | GENETICS & HEREDITY | LACTIC-ACIDOSIS | COMPLEX-I DEFICIENCY | Mitochondria - enzymology | Saccharomyces cerevisiae - genetics | Humans | Mitochondrial Encephalomyopathies - enzymology | Infant | Male | Threonine-tRNA Ligase - genetics | HLA Antigens - genetics | RNA, Messenger - metabolism | Electron Transport Complex I - metabolism | Saccharomyces cerevisiae - metabolism | RNA, Transfer, Val - genetics | DNA, Mitochondrial - genetics | Mitochondria - genetics | Electron Transport Complex I - genetics | Isoenzymes - metabolism | Valine-tRNA Ligase - metabolism | Valine-tRNA Ligase - genetics | Child | RNA, Transfer, Thr - genetics | Fibroblasts - metabolism | Cell Line | DNA, Mitochondrial - metabolism | RNA, Transfer, Thr - metabolism | Isoenzymes - genetics | Mitochondrial Encephalomyopathies - genetics | RNA, Messenger - genetics | Mitochondria - pathology | HLA Antigens - metabolism | Polymorphism, Genetic | Mitochondrial Encephalomyopathies - pathology | RNA, Transfer, Val - metabolism | Homozygote | Heterozygote | Fibroblasts - cytology | Mutation | Threonine-tRNA Ligase - metabolism | Proteins | Care and treatment | Analysis | Epilepsy | Genetic aspects | Single nucleotide polymorphisms | Aminoacyl-tRNA synthetases | Transfer RNA | Index Medicus
Journal Article
PLoS ONE, ISSN 1932-6203, 07/2015, Volume 10, Issue 7, pp. e0133037 - e0133037
Background The use of next-generation sequencing enables a rapid analysis of many genes associated with sudden cardiac death in diseases like Brugada Syndrome.... 
NA(V)1.5 | ANKYRIN-G | COMMON POLYMORPHISM | MULTIDISCIPLINARY SCIENCES | COMPOUND | SUDDEN CARDIAC DEATH | PHENOTYPE | NOISE | LONG-QT SYNDROME | MUTATIONS | RIGHT-VENTRICULAR CARDIOMYOPATHY/DYSPLASIA | Brugada Syndrome - genetics | Brugada Syndrome - diagnosis | Genetic Testing | Cytoskeletal Proteins - genetics | Humans | Middle Aged | Male | Calsequestrin - genetics | Death, Sudden, Cardiac | Genetic Variation | A Kinase Anchor Proteins - genetics | gamma Catenin | Desmoplakins - genetics | Clinical Decision-Making | Adult | Female | Retrospective Studies | NAV1.5 Voltage-Gated Sodium Channel - genetics | Arrhythmias, Cardiac - genetics | Desmoglein 2 - genetics | Penetrance | Potassium Channels, Inwardly Rectifying - genetics | Sequence Analysis, DNA | Ryanodine Receptor Calcium Release Channel - genetics | Pedigree | Ankyrins - genetics | High-Throughput Nucleotide Sequencing | Cohort Studies | Cardiac arrhythmia | Copy number | Genes | Insertion | Ryanodine receptors | Genetic screening | Gene sequencing | Complexity | Proteins | Clonal deletion | Defibrillators | Genetic analysis | Electrocardiography | Deletion | Potassium channels (voltage-gated) | Heart diseases | Ion channels (cyclic nucleotide-gated) | Potassium channels (inwardly-rectifying) | Decision making | Data processing | Genetic diversity | Patients | Coronary artery disease | Substrates | Diseases | Genetic variance | KCNQ1 protein | Mutation | Variation | Index Medicus | Coronary heart disease
Journal Article
Forensic Science International, ISSN 0379-0738, 12/2018, Volume 293, pp. 70 - 76
Cases of sudden cardiac death (SCD) in young and apparently healthy individuals represent a devastating event in affected families. Hereditary arrhythmia... 
Genetics | Massive parallel sequencing | Sudden cardiac death | Arrhythmia syndromes | Sudden death | BRUGADA SYNDROME | VARIANTS | MEDICINE, LEGAL | UNEXPLAINED DEATH | EUROPEAN-SOCIETY | HYPERTROPHIC CARDIOMYOPATHY | RECOMMENDATIONS | MOLECULAR AUTOPSY | CARDIAC DEATH | EPIDEMIOLOGY | CHANNELOPATHIES | Cardiac Myosins - genetics | Humans | Connectin - genetics | Myosin Heavy Chains - genetics | Infant | Male | Death, Sudden, Cardiac - etiology | Sequence Analysis, DNA | Genetic Variation | Young Adult | Cardiomyopathies - genetics | Channelopathies - genetics | Calcium Channels, L-Type - genetics | Dystrophin - genetics | Hypertrophy, Left Ventricular - pathology | Ankyrins - genetics | Forensic Genetics | Adult | Female | High-Throughput Nucleotide Sequencing | alpha Catenin - genetics | Microfilament Proteins - genetics | Arrhythmia | Demographic aspects | Cardiac arrest | Causes of | Youth | Genetic aspects | Teenagers | Health aspects | Death of | Heart | Cardiac arrhythmia | Cardiomyopathy | Epilepsy | Genes | Cardiovascular disease | Family medical history | Genetic screening | Gene sequencing | Analgesics | Autopsy | Genetic analysis | Stratification | Deoxyribonucleic acid--DNA | Genetic disorders | Forensic science | Legal medicine | Mortality | Preventive medicine | Disease prevention | Studies | Pathology | Sleep | Genetic counseling | Death | Index Medicus
Journal Article