Associated Papers
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table1.xlsx › Sheet1
HERC1 mutations in idiopathic intellectual disability.
Utine GE et al.
European Journal of Medical Genetics, 2017
A splice site mutation in HERC1 leads to syndromic intellectual disability with macrocephaly and facial dysmorphism: Further delineation of the phenotypic spectrum.
Aggarwal S et al.
American Journal of Medical Genetics. Part A, 2016
Biallelic HERC1 mutations in a syndromic form of overgrowth and intellectual disability.
Ortega-Recalde O et al.
Clinical Genetics, 2015
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