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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
Human Mutation, ISSN 1059-7794, 08/2019, Volume 40, Issue 8, pp. i - i
On the Front Cover : The front cover image is based on the Paper MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human... 
Journal Article
Nature Genetics, ISSN 1061-4036, 11/2015, Volume 47, Issue 11, pp. 1222 - 1224
Journal Article
Human Reproduction, ISSN 0268-1161, 05/2019, Volume 34, Issue 5, pp. 932 - 941
Abstract STUDY QUESTION Which genes are confidently linked to human monogenic male infertility? SUMMARY ANSWER Our systematic literature search and clinical... 
genetics | next-generation sequencing | spermatogenic failure | gene–disease relation | systematic review | male infertility | clinical validity | gene panel | Review
Journal Article
Human Genetics, ISSN 0340-6717, 06/2016, Volume 135, Issue 6, pp. 603 - 614
Journal Article
Clinical Biochemistry, ISSN 0009-9120, 08/2013, Volume 46, Issue 12, pp. 1151 - 1151
Journal Article
Nature Reviews Genetics, ISSN 1471-0056, 01/2016, Volume 17, Issue 1, pp. 9 - 18
Journal Article
Genome Medicine, ISSN 1756-994X, 07/2015, Volume 7
Journal Article
Human Mutation, ISSN 1059-7794, 08/2015, Volume 36, Issue 8, pp. 815 - 822
Journal Article
Clinical Chemistry, ISSN 0009-9147, 11/2016, Volume 62, Issue 11, pp. 1458 - 1464
Journal Article
Human Mutation, ISSN 1059-7794, 08/2015, Volume 36, Issue 8, pp. 815 - 822
Journal Article
Clinical Chemistry, ISSN 0009-9147, 12/2015, Volume 61, Issue 12, pp. 1515 - 1523
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 02/2016, Volume 24, Issue 2, pp. 237 - 242
Journal Article
American Journal of Human Genetics, ISSN 0002-9297, 07/2015, Volume 97, Issue 1, pp. 67 - 74
Journal Article
Reproductive Biomedicine Online, ISSN 1472-6483, 01/2016, Volume 32, Issue 1, pp. 96 - 103
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2014, Volume 95, Issue 2, pp. 173 - 182
Journal Article
Genome Biology (Online), ISSN 1474-760X, 11/2016, Volume 17
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