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Experimental and Molecular Pathology, ISSN 0014-4800, 08/2014, Volume 97, Issue 1, pp. 111 - 115
Journal Article
Journal Article
Clinical Chemistry, ISSN 0009-9147, 04/2018, Volume 64, Issue 4, pp. 705 - 714
BACKGROUND: Copy number variants (CNVs) can substantially contribute to the pathogenic variant spectrum in several disease genes. The detection of this type of... 
DEAFNESS | MEDICAL LABORATORY TECHNOLOGY | Genes | Genomics | Algorithms | Laboratories | Copy number | Homology | Genomes | Hearing impairment | Patients | Hearing loss | Gene sequencing | Alleles | Diagnostic systems | Genetic testing | Mutation | Bioinformatics | Genotypes | Deoxyribonucleic acid--DNA
Journal Article
The Journal of Molecular Diagnostics, ISSN 1525-1578, 09/2018, Volume 20, Issue 5, pp. 643 - 652
Exome-based panels are becoming the preferred diagnostic strategy in clinical laboratories. This approach enables dynamic gene content update and, if needed,... 
Journal Article
GENOME RESEARCH, ISSN 1088-9051, 07/2019, Volume 29, Issue 7, pp. 1144 - 1151
Recent advances in DNA sequencing have expanded our understanding of the molecular basis of genetic disorders and increased the utilization of clinical genomic... 
BIOTECHNOLOGY & APPLIED MICROBIOLOGY | SUBSTITUTIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENOME | MUTATION | GENETICS & HEREDITY
Journal Article
Human Mutation, ISSN 1059-7794, 11/2018, Volume 39, Issue 11, pp. 1517 - 1524
The 2015 ACMG/AMP sequence variant interpretation guideline provided a framework for classifying variants based on several benign and pathogenic evidence... 
ACMG/AMP | PVS1 | loss of function | ClinGen | variant interpretation | DECAY | GUIDELINES | HUMANS | TRANSLATION INITIATION | MAMMALIAN-CELLS | PROTEIN-SYNTHESIS | CODONS | GENETICS & HEREDITY | FRAMEWORK | SITES | LABORATORIES | Decision-making | Medical colleges | Research institutes | Analysis | Genomics | AMP | Decision making
Journal Article
Human Mutation, ISSN 1059-7794, 03/2019, Volume 40, Issue 3, pp. 243 - 257
The PCDH19 gene consists of six exons encoding a 1,148 amino acid transmembrane protein, Protocadherin 19, which is involved in brain development. Heterozygous... 
epilepsy | X‐linked | cellular interference | PCDH19 | X-linked | DE-NOVO | MENTAL-RETARDATION | DRAVET SYNDROME | PROTOCADHERIN 19 | IDENTIFICATION | ENCEPHALOPATHY | LIMITED EPILEPSY | X-LINKED INHERITANCE | PCDH19-RELATED EPILEPSY | GENETICS & HEREDITY | SPECTRUM | Proteins | Development and progression | Genetic aspects | Seizures (Medicine) | Epilepsy | Genes | Phenotypes | Protocadherin | Etiology | Exons | Amino acids | Females | Fever | Genotypes
Journal Article
Journal of Molecular Diagnostics, ISSN 1525-1578, 09/2018, Volume 20, Issue 5, pp. 643 - 652
Exome-based panels are becoming the preferred diagnostic strategy in clinical laboratories. This approach enables dynamic gene content update and, if needed,... 
PATHOLOGY | GENE | IDENTIFICATION | RESOURCE
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 04/2019, Volume 27, Issue 4, pp. 612 - 620
Clinical exome sequencing (CES) has become the preferred diagnostic platform for complex pediatric disorders with suspected monogenic etiologies. Despite rapid... 
VARIANT PRIORITIZATION | DIAGNOSIS | DATABASE | GENETICS | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENES | GENETICS & HEREDITY | ONTOLOGY | IDENTIFICATION | GENOME | TOOL | Phenotypes | Computer applications
Journal Article