FAM118A a candidate gene for a new syndrome of mild developmental delay, distal arthrogryposis, exostosis of manubrium sterni, missing adult teeth, and amblyopia
- Flytjandi: Helga Helgudóttir
- Höfundar - í stafrófsröð: Edda María Elvarsdóttir, Eiríkur Bríem, Helga Hauksdóttir, Jón Jóhannes Jónsson, Kristján Ari Ragnarssson
- Lykilorð: Chromosome rearrangement, Dysmorphology, Genetic disease
Prevalence of myotonic dystrophy type 1 in Iceland is three times the world average with 77% of cases identified through indirect family-mediated cascade testing
- Flytjandi: Haukur Svansson
A mechanistic hypothesis explaining the occurrence of two distinct phenotypes from the CREBBP/EP300 genes
- Flytjandi: Kaan Okay
- Höfundar - í stafrófsröð: Hans Tomas Björnsson, Kaan Okay, Kasper Daniel Hansen, Katrin Möller
The predictive value of a polygenic risk score for heart failure in the AGES cohort
- Flytjandi: Anna Eva Steindórsdóttir
- Höfundar - í stafrófsröð: Anna Eva Steindórsdóttir, Thor Aspelund, Valborg Guðmundsdóttir, Valur Emilsson, Vilmundur Guðnason
- Lykilorð: Ageing, Epidemiology, Genetics
