Kate Still PhD
PMSF Welcomes Scientific Director, Kate Still, PhDWe are very pleased to welcome Dr. Kate Still to our team as our full-time…
Posts about advances in Phelan-McDermid syndrome research
Dallman-lab
University of Miami Researcher Wins Approval for Phelan-McDermid GI Research StudyUniversity of Miami researcher Julia Dallman recently announced that her lab's…
Intranasal Oxytocin Study Results
Pilot Study Finds Intranasal Oxytocin Does Not Improve Autism Symptoms in Children with PMS-- letter submitted by Alex Kolevzon, MD Clinical…
Research Update
February 26, 2021Members of our research community have been asked to provide lay summaries that give a basic overview in clear…
PMSF Medical Advisory
The Phelan-McDermid Syndrome Foundation Medical Advisors Issue Guidance on Important Treatment Considerations for PMS Patients Our MAC recently issued two guidance documents…
Study on Phelan McDermid Syndrome
Seventy-five percent of individuals with Phelan-McDermid Syndrome have pure 22q deletions, which are either terminal or interstitial. A terminal deletion involves…
PMS Presence at Curating the Clinical Genome Conference 2019
By Emily VandenBoomPMSF Registry Coordinator/Genetic CounselorI had the pleasure of representing the Phelan-McDermid Syndrome Foundation at the annual Curating the Clinical…
Publication: Functional genomics analysis of PMS
by Catherine Ziats, MDResearcher, AuthorBelow is a summary of our research article entitled ‘Functional genomics analysis of Phelan-McDermid syndrome 22q13 region…
PMSF collaborates with Heterogenous registry
By Ronni Blumenthal, Executive Director We recently had an opportunity to spend some time chatting with Patrick Short, CEO of Heterogeneous,…