Ana Morales, MS, CGC, PhDc
@amoralescgc.bsky.social
250 followers
260 following
52 posts
Genetic counseling, CV genetics, implementation science. Publication history: https://www.ncbi.nlm.nih.gov/myncbi/ana.morales.5/bibliography/public/
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Reposted by Ana Morales, MS, CGC, PhDc
Reposted by Ana Morales, MS, CGC, PhDc
Reposted by Ana Morales, MS, CGC, PhDc
Reposted by Ana Morales, MS, CGC, PhDc
Stéphanie Baulac
@sbaulac.bsky.social
· May 15
Nature Neuroscience
@natneuro.nature.com
· Apr 30
Single-cell genotyping and transcriptomic profiling of mosaic focal cortical dysplasia - Nature Neuroscience
In this work, the authors performed a single-cell genotyping and transcriptomics analysis, revealing cell-type-specific and nonautonomous effects of mTOR pathway mutations in mosaic focal cortical dys...
www.nature.com
Reposted by Ana Morales, MS, CGC, PhDc
Jodie Ingles
@jodieingles27.bsky.social
· Apr 17
A rare splice-site variant in TNNT2: the need for ancestral diversity in genomic reference data sets
Inherited cardiomyopathies, including hypertrophic (HCM), dilated (DCM), and restrictive (RCM) cardiomyopathies affect ∼1 in 200–500 in the population. Gen
doi.org
Reposted by Ana Morales, MS, CGC, PhDc
Reposted by Ana Morales, MS, CGC, PhDc
Reposted by Ana Morales, MS, CGC, PhDc
Reposted by Ana Morales, MS, CGC, PhDc
Reposted by Ana Morales, MS, CGC, PhDc