Rare Disease Mendelian Disorders are genetic conditions resulting from alterations in a single gene, following Mendel's laws of inheritance. These disorders can affect any system in the body and ...
Different neuropsychiatric and neurodevelopmental conditions, such as schizophrenia, bipolar disorder, ...
RNA sequencing (RNA-seq) is a powerful tool in diagnosing Mendelian disorders, but the optimized sequencing depth for this technology has not yet been determined. In a new study published in the ...
Despite rapid advances in genetic testing over recent decades, about half of people with a suspected Mendelian genetic disorder have no accurate diagnosis, while others may have to wait years for ...
Phenotype-guided gene prioritizers have proved a highly efficient approach to identifying causal genes for Mendelian diseases. In our previous study, we preliminarily evaluated the performance of ten ...
Clinical infertility is commonly defined as the persistent inability of a couple to achieve pregnancy after 12 months of active attempts to conceive. Approximately 30–50% of these cases are associated ...
A new review brings to light the pivotal role of ribonucleases (RNases) in shaping the molecular foundation of Mendelian disorders. These essential enzymes, known for maintaining RNA metabolism, are ...
Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...
These disorders have taught us about the processes involved in packaging proteins for secretion. Though the disorders are rare, they shed light on processes that are thought to be involved in common ...
Traditional epidemiological studies have identified numerous potential risk factors, but observational studies have struggled to establish causal links due to confounding factors and reverse causation ...
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