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HGG Advances|August 29, 2022
Personalized structural biology reveals the molecular mechanisms underlying heterogeneous epileptic phenotypes caused by de novo KCNC2 variantsSouhrid Mukherjee, Thomas A Cassini, Ningning Hu, et al.
Medrxiv : the Preprint Server for Health Sciences|September 5, 2025
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorderDaniel Greene, Rodrigo Mendez, Jon Lees, et al.
American Journal of Medical Genetics. Part A|April 27, 2026
Response of an Infant With Presumed Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) to Ketone SupplementationYutaka Furuta, Kaitlyn N Bloom, Jerry Vockley, et al.
Nature Genetics|March 30, 2026
Biallelic variants in RNU2-2 cause the most prevalent known recessive neurodevelopmental disorderDaniel Greene, Rodrigo Mendez, Jon Lees, et al.
Molecular Genetics & Genomic Medicine|December 17, 2025
Phenotypic Variability and Paternal Inheritance of a CHD8 Variant Causing Intellectual Developmental Disorder With Autism and Macrocephaly Confirmed by Epigenetic and Structural AnalysesYutaka Furuta, Kimberly M Ezell, Rizwan Hamid, et al.
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