Author
Greenwood Genetic Center
Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.
Mutual co-authors in cluster
4 papers
Recent·Most cited
Michelle Hua, Mohamad‐Reza Aghanoori, Melissa J MacPherson…·Guang Yang
The paper identifies CELF2 variants causing cytoplasmic mislocalization linked to neuronal hyperexcitability, learning deficits, and seizures.
Elisabeth Bosch, Bernt Popp, Esther Güse…·Georgia Vasileiou
The paper presents clinical and molecular data on 65 individuals with SMARCC2-associated neurodevelopmental disorders, distinguishing phenotypes based on variant types and identifying potential pathomechanisms.
Elizabeth A. Werren, Geneva R. LaForce, Anshika Srivastava…·Ashleigh E. Schaffer
This study investigates mRNA processing defects in THOC6 intellectual disability syndrome by analyzing human and mouse models, revealing mRNA mis-splicing and novel TREX tetramer functions.
David B. Beck, Ana Petracovici, Chongsheng He…·Jill A. Fahrner
This study identifies and characterizes 11 cases of TET3 deficiency, a new Mendelian disorder of DNA demethylation, associated with intellectual disability and developmental delays.