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Genome Medicine Research Lab

Research
Overview
Rare disease
Complex traits
Development & Disease
MEGP
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European Society of Human Genetics Meeting, Milan, Italy
June 19, 2018
Yalda Jamshidi
European Society of Human Genetics Meeting, Milan, Italy
Yalda Jamshidi
June 19, 2018

European Society of Human Genetics Meeting, Milan, Italy

Yalda Jamshidi
June 19, 2018

Just back from a great trip to the European Genetics Society meeting. With poster presentations describing three projects we've been involved in, opportunities to meet current collaborators, and lots of potential new collaborations, it was a successful few days in hot and sunny Milan.

 

Project presentations:

P09.142B. Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration

P05.43C. Identification of a novel homozygous loss-of-function variant in JPH2 in two unrelated families affected by lethal Neonatal hypertrophic cardiomyopathy

P05.59C. Multi-ancestry genome-wide association meta-analysis of 293,000 individuals identifies 217 regions for the electrocardiographic PR interval

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