In a now classic paper published in 1991, Alberch introduced the concept of genotype-phenotype (G→P) mapping to provide a framework for a more sophisticated discussion of the integration between ...

Of the more than 3,000 variants that have been identified in the NF1 gene, only a handful of specific variants can be correlated to certain NF1 symptoms. In this post, I’ll discuss the major known ...

To determine the association between genotype and phenotype in patients with RB, the investigators conducted a single-center retrospective cohort study of 1404 consecutive unrelated individuals ...

New research shows that while a three-base pair, in-frame deletion called p.Met992del in the NF1 gene has a mild phenotype for people with the genetic disorder neurofibromatosis type 1, or NF1, the ...

Université de Strasbourg and partners report that adding structural variants and small insertion–deletion mutations to single-nucleotide polymorphism analyses raised trait heritability estimates by 14 ...

In the UK, there was a case where TGN1412, an immunotherapy under development, triggered a cytokine storm within hours of administration to humans, leading to multiple organ failure.