Amanote Research
Register
Sign In
Discover open access scientific publications
Search, annotate, share and cite publications
Publications by Roland Dunbrack
Assessment of Predicted Enzymatic Activity of Alpha‐N‐acetylglucosaminidase (NAGLU) Variants of Unknown Significance for CAGI 2016
Human Mutation
Genetics
Structure of a Human ASF1a–HIRA Complex and Insights Into Specificity of Histone Chaperone Complex Assembly
Nature Structural and Molecular Biology
Structural Biology
Molecular Biology
Related publications
Functional Annotation of KCNQ1 Variants of Unknown Significance Using Automated Electrophysiology
Biophysical Journal
Biophysics
N-Acetylglucosaminidase-Α (NAGLU); Insulin-Like Growth Factor-2 (IGF-2); Mannose-6-Phosphate Receptor (M6P Receptor)
Science-Business eXchange
Genetic and Histopathologic Evaluation ofBRCA1andBRCA2DNA Sequence Variants of Unknown Clinical Significance
Cancer Research
Cancer Research
Oncology
Characterization ofStaphylococcus aureusCell Wall Glycan Strands, Evidence for a New Β-N-Acetylglucosaminidase Activity
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
Enhanced Transglycosylation Activity ofArthrobacter protophormiaeEndo--N-acetylglucosaminidase in Media Containing Organic Solvents
Journal of Biological Chemistry
Biochemistry
Cell Biology
Molecular Biology
Utilizing ExAC to Assess the Hidden Contribution of Variants of Unknown Significance to Sanfilippo Type B Incidence
PLoS ONE
Multidisciplinary
Assessment of Patient Clinical Descriptions and Pathogenic Variants From Gene Panel Sequences in the CAGI‐5 Intellectual Disability Challenge
Human Mutation
Genetics
Comparison of Clinical Outcomes of BRCA1/2 Pathologic Mutation, Variants of Unknown Significance, or Wild Type Epithelial Ovarian Cancer Patients
Cancer Research and Treatment
Cancer Research
Oncology
SANDHQFF DISEASE: INCREASED Β-D-N-Acetylglucosaminidase ACTIVITY AFTER CORTICOSTEROID EXPOSURE IN CULTIVATED SKIN FIBROBLASTS
Pediatric Research
Child Health
Pediatrics
Perinatology