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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 04/2017, Volume 114, Issue 16, pp. 4219 - 4224
Journal Article
JAMA Oncology, ISSN 2374-2437, 01/2019, Volume 5, Issue 1, pp. 51 - 57
IMPORTANCE Since the discovery of BRCA1 and BRCA2, multiple high- and moderate-penetrance genes have been reported as risk factors for hereditary breast... 
INHERITED MUTATIONS | RAD51C | SERIES | RARE | ONCOLOGY | FREQUENCY | GERMLINE MUTATIONS | HEREDITARY BREAST | CONFER SUSCEPTIBILITY | SUSCEPTIBILITY GENES | PROTEIN-TRUNCATING VARIANTS | Index Medicus | Online First | Original Investigation | Research
Journal Article
PLoS Genetics, ISSN 1553-7390, 08/2013, Volume 9, Issue 8, pp. e1003671 - e1003671
De novo mutations affect risk for many diseases and disorders, especially those with early-onset. An example is autism spectrum disorders (ASD). Four recent... 
RARE VARIANTS | EXOMES | FUNCTIONAL IMPACT | COL25A1 | DISEASE | GENETICS & HEREDITY | MUTATIONS | AUTISM SPECTRUM DISORDERS | ASSOCIATION | DISCOVERY | COPY-NUMBER VARIATION | Epigenetic inheritance | Research | Gene expression | Genetic variation | Index Medicus | Studies | Autism | Mutation | Genes
Journal Article
Science, ISSN 0036-8075, 04/2018, Volume 360, Issue 6386, pp. 327 - 331
Journal Article