Showing results (1-10 of 10) with videos related to
Sort By:
Pageof 1
Neuron|May 8, 2020
Unwind and Relax: DDX3X RNA Helicase as a Critical Mediator of Cortical NeurogenesisBlake Vuocolo, J Lloyd HolderMolecular Genetics & Genomic Medicine|February 26, 2024
Novel hemizygous single-nucleotide duplication in RPGR in a patient with retinal dystrophy and sensorineural hearing lossRyan J German, Blake Vuocolo, Liesbeth Vossaert, et al.Molecular Genetics & Genomic Medicine|August 24, 2023
Precision therapy for a medically actionable ATP1A3 variant from a genomic medicine program in an underserved populationCara P Ford, Rebecca O Littlejohn, Ryan German, et al.American Journal of Medical Genetics. Part A|August 21, 2024
Recurrent carotid paragangliomas in a syndromic patient with a heterozygous missense variant in DNA Methyltransferase 3 AlphaRyan J German, Blake Vuocolo, Liesbeth Vossaert, et al.Journal of Genetic Counseling|January 16, 2024
Families' experiences accessing care after genomic sequencing in the pediatric cancer context: "It's just been a big juggle"Blake Vuocolo, Amanda M Gutierrez, Jill O Robinson, et al.Research Square|January 3, 2024
Reducing Time to Diagnosis of Rare Genetic Diseases in a Medically Underserved Hispanic Population- Lessons Learned for Meaningful EngagementBlake Vuocolo, Roberta Sierra, Dan Brooks, et al.Journal of Neurodevelopmental Disorders|September 9, 2024
Project GIVE: using a virtual genetics service platform to reduce health inequities and improve access to genomic care in an underserved region of TexasBlake Vuocolo, Roberta Sierra, Daniel Brooks, et al.HGG Advances|August 25, 2024
LARP1 haploinsufficiency is associated with an autosomal dominant neurodevelopmental disorderJames Chettle, Raymond J Louie, Olivia Larner, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 3, 2024
Improving access to exome sequencing in a medically underserved population through the Texome ProjectBlake Vuocolo, Ryan J German, Seema R Lalani, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 17, 2025
Pathogenic XPO1 variants cause a dominant neurodevelopmental disorderAmber S E van Oirsouw, Pavla Nedbalova, Miroslava Hancarova, et al.Pageof 1