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American Society of Human Genetics Conference 2022

After 2 years, finally the #ASHG Conference was in-person again!


A part of our group went to Los Angeles (California, USA), from 25th to 29th October to attend to this wonderful conference for geneticists.




ASHG reported a total of 7,002 registrants which includes 1,407 exhibitors stemming from 84 countries and 49 states, with 17 plenary talks, 333 platform talks, 2,543 poster presentations and 47 invited sessions speakers.


Among these amazing scientists, we also had the honour to present the work

Missense variants in RPH3A cause defects in synaptic function and are associated with a neurodevelopmental disorder characterized by epilepsy

presented by our PhD student Lisa Pavinato as a platform talk and the work

Undiagnosed complex cases with neurodevelopmental disorders (NDD) after exome sequencing - what’s next?

presented by our postdoctoral researcher Slavica Trajkova as a poster.


It was a great pleasure to listen to amazing speakers and meet other scientist, and we had a great time with colleagues from all over the world!





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