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European Journal of Human Genetics, ISSN 1018-4813, 02/2017, Volume 25, Issue 2, pp. 176 - 182
Journal Article
Nature Genetics, ISSN 1061-4036, 04/2008, Volume 40, Issue 4, pp. 443 - 448
Journal Article
Nature Genetics, ISSN 1061-4036, 03/2010, Volume 42, Issue 3, pp. 245 - 249
Journal Article
Genetics in Medicine, ISSN 1098-3600, 11/2018, Volume 20, Issue 11, pp. 1328 - 1333
Purpose: Whole-exome sequencing (WES) and whole-genome sequencing (WGS) are used to diagnose genetic and inherited disorders. However, few studies comparing... 
detection rate | reanalysis of raw data | consanguinity | whole-exome sequencing | whole-genome sequencing | GENETICS & HEREDITY | IDENTIFICATION
Journal Article
Journal Article
Genetics in Medicine, ISSN 1098-3600, 04/2018, Volume 20, Issue 4, pp. 420 - 427
Purpose: The application of genomic sequencing to investigate unexplained death during early human development, a form of lethality likely enriched for severe... 
embryonic lethality | genomic autopsy | ETIOLOGY | VARIANTS | GENETICS & HEREDITY | MUTATIONS | IDENTIFICATION | DISCOVERY
Journal Article
Annals of Human Genetics, ISSN 0003-4800, 05/2018, Volume 82, Issue 3, pp. 165 - 170
IntroductionPrimary microcephaly type 3 is a genetically heterogeneous condition caused by a homozygous or compound heterozygous mutation in CDK5 regulatory... 
microcephaly | cataract | CDK5RAP2 | EXOME | VARIANTS | GENETICS | GENETICS & HEREDITY | Cataract | Genetic disorders | Nucleotide sequencing | Analysis | DNA sequencing | Cataracts | Phenotypes | Microencephaly | Etiology | Microcephaly | Cyclin-dependent kinase 5 | Hearing loss
Journal Article
Orphanet Journal of Rare Diseases, ISSN 1750-1172, 2013, Volume 8, Issue 1, pp. 83 - 83
Journal Article