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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 | Index Medicus
Journal Article
Cell Reports, ISSN 2211-1247, 01/2015, Volume 10, Issue 2, pp. 148 - 161
Journal Article
Human Genetics, ISSN 0340-6717, 9/2019, Volume 138, Issue 8, pp. 1043 - 1049
Primary congenital glaucoma is a trabecular meshwork dysgenesis with resultant increased intraocular pressure and ocular damage. CYP1B1 mutations remain the... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | Ethylenediaminetetraacetic acid | Genetic disorders | Glaucoma in children | Analysis | Cytochrome P-450 | Genetic aspects | Disease susceptibility | Health aspects | Epidemiology | Glaucoma | Congenital diseases | Genetic analysis | Population studies | Mutation | Population genetics | Index Medicus
Journal Article
Genetics in Medicine, ISSN 1098-3600, 05/2017, Volume 19, Issue 5, pp. 593 - 598
Background: Clinical exome sequencing (CES) has greatly improved the diagnostic process for individuals with suspected genetic disorders. However, the majority... 
clinical genome | autozygome | clinical genomics | clinical exome | variant interpretation | GENETICS | GENETICS & HEREDITY | MUTATIONS | Computational Biology - methods | Genetic Predisposition to Disease | Genetic Testing | Humans | Sensitivity and Specificity | Software | Whole Exome Sequencing - methods | Index Medicus
Journal Article
Genome Biology, ISSN 1474-7596, 11/2016, Volume 17, Issue 1, pp. 242 - 242
Journal Article
Annals of Neurology, ISSN 0364-5134, 06/2017, Volume 81, Issue 6, pp. 890 - 897
Journal Article
Journal Article
The Journal of Allergy and Clinical Immunology, ISSN 0091-6749, 08/2019, Volume 144, Issue 2, pp. 574 - 583.e5
Journal Article
Human Genetics, ISSN 0340-6717, 11/2017, Volume 136, Issue 11, pp. 1419 - 1429
Intellectual disability (ID) is a common morbid condition with a wide range of etiologies. The list of monogenic forms of ID has increased rapidly in recent... 
Human Genetics | Gene Function | Molecular Medicine | Biomedicine | Metabolic Diseases | SLC12A2 | PROTEIN | VARIANTS | MUTATION | DISEASE | GENETICS & HEREDITY | NKCC1 | EXCHANGE | BRAIN | INSIGHTS | Medicine, Experimental | Medical colleges | Medical research | Brain | Disease susceptibility | Genetic aspects | Gene mapping | Dimethylaniline monooxygenase (N-oxide-forming) | Intellectual disabilities | Index Medicus
Journal Article