Please provide your email address to receive an email when new articles are posted on . Overall, 2.9% of adults with kidney stones had Mendelian disease, the study showed. Of kidney stone formers, 8.1 ...

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 ...

Gregor Mendel discovered fundamental rules of genetics by raising pea plants. He realized that hidden factors — we now know them to be genes — were passed down from parents to offspring. It wasn’t ...

Scientists have discovered a new way to interpret unsolved Mendelian diseases -- diseases inherited from either parent due to gene mutations in the developing egg or sperm -- through studying the ...

Genetic study finds little direct link between respiratory disease and CVD, but smoking and inflammation are major shared ...

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 ...

The development of an embryo is a well-orchestrated string of processes, ensuring correct formation and positioning of vital organs of the growing organism. At the molecular level, these processes 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 ...

We study rare childhood diseases using medical genetics, genomics, and Drosophila models. Understand the underlying mechanisms of Mendelian disease. Clinical and genetic aspects of rare human disease ...

Share on Facebook. Opens in a new tab or window Share on X. Opens in a new tab or window Share on LinkedIn. Opens in a new tab or window Linear and nonlinear mendelian randomization (MR) were used to ...