| Comprehensive review on the molecular genetics of autosomal recessive primary microcephaly (MCPH) |
11 |
| Discrepant molecular and clinical diagnoses in Beckwith-Wiedemann and Silver-Russell syndromes |
4 |
| Transmembrane emp24 domain proteins in development and disease. |
4 |
| Epigenetics and bone diseases |
2 |
| Global science meets ethnic diversity: Ian McGonigle interviews GenomeAsia100K Scientific Chairman Stephan Schuster |
1 |
| In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth. |
1 |
| Implementation of cell-free DNA-based non-invasive prenatal testing in a National Health Service Regional Genetics Laboratory |
1 |
| An efficient classification algorithm for NGS data based on text similarity |
1 |
| Association of tribbles homologue 1 gene expression in human umbilical vein endothelial cells with duration of intrauterine exposure to hyperglycaemia |
0 |
| Changing the mindset for precision medicine: from incentivized biobanking models to genomic data |
0 |
| The impact of artificial intelligence on the current and future practice of clinical cancer genomics |
0 |
| A permutation method for detecting trend correlations in rare variant association studies |
0 |
| Global Science Meets Ethnic Diversity: Ian McGonigle interviews GenomeAsia100k Scientific Chairman Stephan Schuster-ADDENDUM |
0 |
| Stage-specific differential DNA methylation data analysis during human erythropoiesis in chromosome 16 |
0 |
| Association analysis of rare and common variants with multiple traits based on variable reduction method |
0 |
| DNA methylation is not involved in dietary restriction induced lifespan extension in adult Drosophila |
0 |
| A severe clinical phenotype of Noonan syndrome with neonatal hypertrophic cardiomyopathy in the second case worldwide with RAF1 S259Y neomutation |
0 |
