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American Journal of Human Genetics, ISSN 0002-9297, 03/2018, Volume 102, Issue 3, pp. 354 - 354
Journal Article
Nature Reviews Genetics, ISSN 1471-0056, 2012, Volume 13, Issue 8, pp. 565 - 575
New mutations have long been known to cause genetic disease, but their true contribution to the disease burden can only now be determined using family-based... 
Autistic Disorder - genetics | Genetic Predisposition to Disease | Humans | Genetic Diseases, Inborn - genetics | Male | Germ Cells | Genetic Testing - methods | Intellectual Disability - genetics | Schizophrenia - genetics | Female | Mutation | Genome | Sequence Analysis, DNA - methods | Genetic disorders | Research | Gene mutations | Health aspects | Risk factors
Journal Article
NATURE REVIEWS GENETICS, ISSN 1471-0056, 08/2012, Volume 13, Issue 8, pp. 565 - 575
New mutations have long been known to cause genetic disease, but their true contribution to the disease burden can only now be determined using family-based... 
INTELLECTUAL DISABILITY | GERMLINE | 17Q21.31 MICRODELETION SYNDROME | MEIOTIC RECOMBINATION HOTSPOTS | GENETICS & HEREDITY | AGE EFFECT MUTATIONS | SPECTRUM | COPY NUMBER VARIATION | SOMATIC MOSAICISM | SELECTION | COMMON INVERSION
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 03/2018, Volume 102, Issue 3, pp. 354 - 354
Journal Article
Current Opinion in Biotechnology, ISSN 0958-1669, 2011, Volume 22, pp. S18 - S19
Journal Article
Current Opinion in Biotechnology, ISSN 0958-1669, 2011, Volume 22, pp. S22 - S22
Journal Article
Journal Article
Nature Genetics, ISSN 1061-4036, 2010, Volume 42, Issue 12, pp. 1109 - 1112
The per-generation mutation rate in humans is high. De novo mutations may compensate for allele loss due to severely reduced fecundity in common... 
MICE | MUTATIONS | GENE | DYNEIN | GENETICS & HEREDITY | Base Sequence | Humans | Exons - genetics | Female | Male | Mutation - genetics | Sequence Analysis, DNA | Intellectual Disability - genetics | Genetic aspects | Research | Gene mutations | Health aspects | Mental retardation | Risk factors | Studies | Candidates | Disease | Genetics | Mutation | Experiments | Chromosomes
Journal Article
Journal Article
Journal Article
Human Mutation, ISSN 1059-7794, 2015, Volume 36, Issue 10, pp. 915 - 921
Journal Article