How to proceed after “negative” exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Inherited Metabolic Disease"
DOI: 10.1002/jimd.12507
Abstract: Exome sequencing (ES) in the clinical setting of inborn metabolic diseases (IMDs) has created tremendous improvement in achieving an accurate and timely molecular diagnosis for a greater number of patients, but it still leaves the… read more here.
Keywords: review genetic; diagnosis; proceed negative; negative exome ... See more keywords
The time for next-generation molecular genetic diagnostics in nephrology is now!
Sign Up to like & getrecommendations! Published in 2018 at "Kidney international"
DOI: 10.1016/j.kint.2018.03.025
Abstract: Global and disease-group genetic testing is replacing single-gene molecular diagnostics. Bullich et al. demonstrate that gene panel analysis can result in a high yield of genetic diagnoses in cystic and familial glomerular populations. As the complexity… read more here.
Keywords: nephrology; time next; molecular genetic; genetic diagnostics ... See more keywords
Improving genetic diagnostics of skeletal muscle channelopathies
Sign Up to like & getrecommendations! Published in 2020 at "Expert Review of Molecular Diagnostics"
DOI: 10.1080/14737159.2020.1782195
Abstract: ABSTRACT Introduction Skeletal muscle channelopathies are rare inherited conditions that cause significant morbidity and impact on quality of life. Some subsets have a mortality risk. Improved genetic methodology and understanding of phenotypes have improved diagnostic… read more here.
Keywords: skeletal muscle; genetic diagnostics; diagnostics skeletal; muscle channelopathies ... See more keywords
Current genetic diagnostics in inborn errors of immunity
Sign Up to like & getrecommendations! Published in 2024 at "Frontiers in Pediatrics"
DOI: 10.3389/fped.2024.1279112
Abstract: New technologies in genetic diagnostics have revolutionized the understanding and management of rare diseases. This review highlights the significant advances and latest developments in genetic diagnostics in inborn errors of immunity (IEI), which encompass a… read more here.
Keywords: diagnosis; rare diseases; errors immunity; diagnostics inborn ... See more keywords
Blau Syndrome: Challenging Molecular Genetic Diagnostics of Autoinflammatory Disease
Sign Up to like & getrecommendations! Published in 2024 at "Genes"
DOI: 10.3390/genes15060799
Abstract: The aim of this study was to describe the clinical and molecular genetic findings in seven individuals from three unrelated families with Blau syndrome. A complex ophthalmic and general health examination including diagnostic imaging was… read more here.
Keywords: molecular genetic; diagnostics autoinflammatory; challenging molecular; blau syndrome ... See more keywords