James Fasham
@jamesfasham.bsky.social
🧬👨⚕️Academic Consultant in Clinical Genetics 💬 ESHG Social media chair. 🤖 @DiseaseGenes bot creator #Genetics #Genomics #RareDisease
Follow up discussion:
A phenotypic spectrum / risk often exists below the level of a clinical "syndrome".
E. g. QT interval distribution
How does this affect our understanding of penetrance and expressivity?
Do parents understand this and how do we explain it if not?
A phenotypic spectrum / risk often exists below the level of a clinical "syndrome".
E. g. QT interval distribution
How does this affect our understanding of penetrance and expressivity?
Do parents understand this and how do we explain it if not?
October 24, 2025 at 11:15 AM
Follow up discussion:
A phenotypic spectrum / risk often exists below the level of a clinical "syndrome".
E. g. QT interval distribution
How does this affect our understanding of penetrance and expressivity?
Do parents understand this and how do we explain it if not?
A phenotypic spectrum / risk often exists below the level of a clinical "syndrome".
E. g. QT interval distribution
How does this affect our understanding of penetrance and expressivity?
Do parents understand this and how do we explain it if not?
Reposted by James Fasham
Also many thanks for the incredible - and ever growing - presence of colleagues, friends and collaborators from down under at #eshg2025 with many thanks to your SPC delegates — what a team 🇦🇺🇦🇺🇦🇺🇦🇺🇦🇺
May 27, 2025 at 8:46 PM
Also many thanks for the incredible - and ever growing - presence of colleagues, friends and collaborators from down under at #eshg2025 with many thanks to your SPC delegates — what a team 🇦🇺🇦🇺🇦🇺🇦🇺🇦🇺
If we ever needed a change we could do worse than EAHG : European Assembly of Human Geneticists?
May 27, 2025 at 9:43 AM
If we ever needed a change we could do worse than EAHG : European Assembly of Human Geneticists?