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Nature, ISSN 0028-0836, 08/2016, Volume 536, Issue 7615, pp. 205 - 209
Journal Article
Genome Biology, ISSN 1474-7596, 03/2017, Volume 18, Issue 1, p. 49
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 01/2016, Volume 98, Issue 1, p. 45
  Recurrent deletions and duplications at chromosomal region 16p11.2 are a major genetic contributor to autism but also associate with a wider range of... 
Autism | Genotype & phenotype | Pediatrics | Genetic disorders | Genes | Chromosomes
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 01/2016, Volume 98, Issue 1, pp. 45 - 57
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 11/2019, Volume 105, Issue 5, pp. 947 - 958
Human-specific duplications at chromosome 16p11.2 mediate recurrent pathogenic 600 kbp BP4–BP5 copy-number variations, which are among the most common genetic... 
16p11.2 copy number variants | human-specific segmental duplications | human evolution | gene duplication | iron deficiency anemia | BOLA2
Journal Article
Cell, ISSN 0092-8674, 05/2018, Volume 173, Issue 6, pp. 1356 - 1369.e22
Journal Article
01/2015, ISBN 9781339406855
Gene duplication is a fundamental force contributing to the evolution of novel traits, genomic diversity among species and individuals, and disease. In this... 
Genetics
Dissertation
Clinical Case Reports, ISSN 2050-0904, 01/2018, Volume 6, Issue 1, pp. 147 - 154
Key Clinical Message 16p11.2 deletions and duplications are commonly associated with autism spectrum disorder and linked to mirrored phenotypes of physical... 
16p11.2 duplication | ASD risk variant | gene triplication | 16p11.2 triplication | 16p11.2 deletion
Journal Article
Nature methods, ISSN 1548-7091, 9/2013, Volume 10, Issue 9, pp. 903 - 909
Over 900 genes have been annotated within duplicated regions of the human genome, yet their functions and potential roles in disease remain largely unknown.... 
Journal Article
Cell, ISSN 0092-8674, 5/2012, Volume 149, Issue 4, pp. 912 - 922
Gene duplication is an important source of phenotypic change and adaptive evolution. We use a novel genomic approach to identify highly identical sequence... 
Journal Article
Nature Ecology and Evolution, ISSN 2397-334X, 02/2017, Volume 1, Issue 3, p. 69
Segmental duplications contribute to human evolution, adaptation and genomic instability but are often poorly characterized. We investigate the evolution,... 
EVOLUTIONARY BIOLOGY | ORIGIN | GENOME SEQUENCE | AUTISM | SIMPLEX COLLECTION | HOMINID | MOLECULAR INVERSION PROBES | GENE CONVERSION | ECOLOGY | TRPM8 | COPY NUMBER VARIATION | UPPER MIOCENE
Journal Article
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