A splice site mutation inHERC1leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum

The HERC1 E3 Ubiquitin Ligase is essential for normal development and for neurotransmission at the mouse neuromuscular junction

(2015) S. Bachiller et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

BiallelicHERC1mutations in a syndromic form of overgrowth and intellectual disability

(2015) O. Ortega-Recalde et al.   CLINICAL GENETICS

A nonsense variant in HERC1 is associated with intellectual disability, megalencephaly, thick corpus callosum and cerebellar atrophy

(2015) Lam Son Nguyen et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Mammalian target of rapamycin and tuberous sclerosis complex

(2015) Mari Wataya-Kaneda   JOURNAL OF DERMATOLOGICAL SCIENCE

Megalencephaly and hemimegalencephaly: Breakthroughs in molecular etiology

(2014) Ghayda M. Mirzaa et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS

A homozygous missense mutation inHERC2associated with global developmental delay and autism spectrum disorder

(2012) Erik G. Puffenberger et al.   HUMAN MUTATION

Progressive Purkinje Cell Degeneration in tambaleante Mutant Mice Is a Consequence of a Missense Mutation in HERC1 E3 Ubiquitin Ligase

(2009) Tomoji Mashimo et al.   PLoS Genetics