GENETICS & HEREDITY Category
Research
Category
- A copy number variation morbidity map of developmental delay Article
- A near-haploid clone harboring a BCR/ABL1 gene fusion in an adult patient with newly diagnosed B-lymphoblastic leukemia Article
- Biallelic variants in AGMO with diminished enzyme activity are associated with a neurodevelopmental disorder Article
- CDCP1 enhances Wnt signaling in colorectal cancer promoting nuclear localization of beta-catenin and E-cadherin Article
- Characterizing false-positive fluorescence in situ hybridization results by mate-pair sequencing in a patient with chronic myeloid leukemia and progression to myeloid blast crisis Article
- Clinical and Molecular Characteristics of Mitochondrial Dysfunction in Autism Spectrum Disorder Article
- Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder Article
- Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum Article
- Liver transplantation in propionic and methylmalonic acidemia: A single center study with literature review Article
- Missense variants in the chromatin remodeler CHD1 are associated with neurodevelopmental disability Article
- Phenotype and mutation expansion of the PTPN23 associated disorder characterized by neurodevelopmental delay and structural brain abnormalities Article
- Primary Mitochondrial Disease and Secondary Mitochondrial Dysfunction: Importance of Distinction for Diagnosis and Treatment Article
- SPATA5 mutations identified by whole exome sequencing cause a novel autosomal recessive defect of mitochondrial morphogenesis characterized by microcephaly, intellectual disability, seizures, and hearing loss Article
- The use of fetal exome sequencing in prenatal diagnosis: a points to consider document of the American College of Medical Genetics and Genomics (ACMG) Article