Stefan Barakat (@stefanbarakat) 's Twitter Profile
Stefan Barakat

@stefanbarakat

Associate Professor at Erasmus MC. MD, PhD, Clinical Geneticist, interested in gene regulation and the non-coding genome, bridging research and patient care

ID: 3348118414

linkhttps://www.erasmusmc.nl/en/research/groups/barakat-lab-non-coding-genome-in-clinical-genetics calendar_today27-06-2015 22:18:10

888 Tweet

683 Takipçi

545 Takip Edilen

Stefan Barakat (@stefanbarakat) 's Twitter Profile Photo
Stefan Barakat
@stefanbarakat

3 months ago

Thanks to the impressive work of Yuyang Chen, Nicky Whiffin & their preprint, we could diagnose a girl with the RNU4‐2 neurodevelopmental disorder. Facial gestalt recognizable! Even without WGS access, consider targeted analysis for unsolved patients? onlinelibrary.wiley.com/doi/full/10.11…