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Publications by Cas Simons
Bi-Allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy With Brain Malformation
American Journal of Human Genetics
Genetics
De Novo Variants in WDR37 Are Associated With Epilepsy, Colobomas, Dysmorphism, Developmental Delay, Intellectual Disability, and Cerebellar Hypoplasia
American Journal of Human Genetics
Genetics
A Clinical Approach to the Diagnosis of Patients With Leukodystrophies and Genetic Leukoencephelopathies
Molecular Genetics and Metabolism
Genetics
Molecular Biology
Biochemistry
Endocrinology
Metabolism
Diabetes
Precision Medicine Diagnostics for Rare Kidney Disease: Twitter as a Tool in Clinical Genomic Translation
Kidney Medicine
Internal Medicine
Nephrology
Maintenance of Transposon-Free Regions Throughout Vertebrate Evolution
BMC Genomics
Biotechnology
Genetics
Effect of 5'UTR Introns on Gene Expression in Arabidopsis Thaliana
BMC Genomics
Biotechnology
Genetics
