News & Updates

We discuss how different experimental paradigms and genetic tools in Drosophila can be used to end the diagnostic odyssey of people...

Rare variants in LAMB1 are associated with a variety of neurodevelopmental and neurodegenerative phenotypes in human . However, their...

We report three pediatric patients with a novel multisystemic X-linked disorder associated with late frameshift variants in the last...

Dr. Shinya Yamamoto received the 2025 Genetics Society of America (GSA) Early Career Medal for outstanding contributions to the field of...

Dr. Yamamoto contributed to the first Undiagnosed Hackathon that was held in Stockholm, Sweden in 2023, hosted by the Wilhelm Foundation...

In collaboration with Dr. Yuri Zarate , we studied the function of different missense variants that affect a single amino acid. Recurrent...

Our research article regarding the development of a comprehensive Drosophila resource to study proteins encoded by the Zika Virus was...

In collaboration with Dr. Andy Groves , we generated a catalog of mammalian (human and mouse) deafness genes and their orthologous genes...

In collaboration with Dr. Nikki Link , we generated a comprehensive Drosophila resource to study proteins encoded by the Zika Virus. By...