Another MS Society #citytoshore in the bag! It was a good cycle ride yesterday - but a bit tougher than usual given suboptimal weather
An amazing effort fron many, inclueing Julius Juodakis, Bo jacobsson, @bfeenstra.bsky.social@struangrant.bsky.social@jonathanbradfield.bsky.social Karin Ytterberg, Abe LaBella, Stefan Johansson, Marc Vaudel, Xiaoping Wu, and many more! Thanks to all involved and the participants!
A little bit late to the party, but our project on the genetics of neonatal jaundice has been finally published 👶 www.nature.com/articles/s41... It's a neat story and a rollercoster of unexpected findings 🤓🤓 How do the genetics of neonatal jaundice differentiate from those of adult bilirubin?
The underlying causes of neonatal jaundice are not well understood. Here, the authors identify genetic variants associated with neonatal jaundice, including a variant in the gene UGT1A, finding a dist...
PREPRINT: Co-mentored with Laura Almasy, & formerly Casey Brown, @cambupenn.bsky.socialwww.biorxiv.org/content/10.1...
Non-coding variants discovered by genome-wide association studies (GWAS) are enriched in regulatory elements harboring transcription factor (TF) binding motifs, strongly suggesting a connection betwee...
PREPRINT: Our Children's Hospital of Philadelphia Research Institute team, including Andrew Wells, delighted to contribute to a large-scale multi-omic analysis of pancreatic ductal adenocarcinoma, led by Jun Zhong and Laufey Amundadottir www.medrxiv.org/content/10.1...
medRxiv - The Preprint Server for Health Sciences
Thanks to @lisanwang.bsky.social for chairing the thesis committee!
Congratulations to Dr Elizabeth Burton! PhD awarded today with @cambupenn.bsky.social. Good luck with next steps at The Broad Institute
Just out in @elife.bsky.socialelifesciences.org/articles/96852
The three-dimensional architecture of the genome in distinct cell types predicts genes and regulatory elements involved in cell function and disease.
Exciting work from Adrian Vella's team at the Mayo Clinic implicating a role for the #TCF7L2diabetesjournals.org/diabetes/art...
The T allele at rs7903146 in TCF7L2 increases the rate of conversion from prediabetes to type 2 diabetes. This has been associated with impaired β-cell fun