Publications

Characterizing key correlates of sleep problems across rare neurodevelopmental genetic disorders

(E K Baker, T W Frazier, J M Phillips, A Y Hardan, M Uljarević)

• 2025

Challenging Behavior Domains in Individuals With Neurodevelopmental Genetic Syndromes: The Role of Psychological Features

(Emily F Ferguson, Thomas W Frazier, Antonio Y Hardan, Mirko Uljarević)

• 2025

MED13L Syndrome Synonyms: MED13L Haploinsufficiency Syndrome, MED13L-Related Intellectual Disability

(Dr. Alicia Campbell, Dr. Jennifer Bain)

• 2025

MED13L and its disease-associated variants influence the dendritic development of cerebral cortical neurons in the mammalian brain

(Nanako Hamada and Koh-ichi Nagata)

• 2023

MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype

(Tomas Smol and Jamal Ghoumid)

• 2018

Aberrant cyclin C nuclear release induces mitochondrial fragmentation and dysfunction in MED13L syndrome fibroblasts

(Kai-Ti Chang and Randy Strich)

• 2022

Genotype-phenotype evaluation of MED13L defects in the light of a novel truncating and a recurrent missense mutation

(Asadollahi and Rauch)

• 2017

Redefining MED13L Syndrome

(Abidemi Adegbola et al)

• 2015

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability

(Asadollahi and Rauch)

• 2013