Last year, @deevybee retired from her position as a neuropsychology professor at Oxford, but she is still hard at work investigating unethical behavior in scientific research.
https://t.co/arsf0BhK9g
Meta-analysis of genetic testing in cerebral palsy (CP) found a diagnostic yield of exome sequencing (ES) of 31%, supporting the inclusion of CP in the current recommendation of ES as a first-tier test for individuals with neurodevelopmental disorders. https://t.co/OXezIaoiTF
.@GeisingerADMI will be welcoming undergraduates this summer as part of @GeisingerRsrch SURP program. Students will participate in research that aligns with ADMI’s approach to investigate causes & treatment of neurodevelopmental disorders. Learn more: https://t.co/zam8G1rP87
#ResearcherSpotlight Marissa Mitchel, M.S., CCC-SLP uses participant behavioral data associated with many different genetic disorders studied by #SimonsSearchlight. She discusses the important role families play in her research: https://t.co/Gd9KNY1tmy @GeisingerADMI
Higher freq of FLCN LoF variants than expected based on prevalence estimates, & lower rates of Birt-Hogg-Dubé-associated cutaneous, pulmonary, & renal phenotypes in a healthcare system population
@GeisingerRsrch@savatt_juliann@clesemartin@dhledbetter
https://t.co/GCOIgeBxm3
Excited to see this work published with
@ClinicSpecChild, @Barb_Haasgivler, and others
on ANAPC7 intellectual disability syndrome. We love traveling to meet families and phenotype #RareDisease@GeisingerRsrch
https://t.co/mxCEpoSx7o
Today is Smith-Magenis syndrome Awareness Day, a day dedicated to spreading education and understanding of SMS around the world. At ADMI, we support individuals with SMS and their families year-round through our SMS multidisciplinary clinic. #SMSAwarenessDay@smsprisms
18 months into the pandemic & facing another surge, we have announced all employees will be required to be vaccinated against COVID-19. Rooted in our values for safety & high-quality care, this decision helps protect our patients, communities & each other.
https://t.co/N4SUgYRZv6
@DrHannahHobson@deevybee Pause and read Getting Things Done by @gtdguy. It'll take some time to get yourself in shape, and then, stay consistent. It works.