Ute Moog
Heidelberg University(DE)
Publications by Year
Research Areas
Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Hedgehog Signaling Pathway Studies, Genetic and rare skin diseases.
Most-Cited Works
- → Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study(2012)1,063 cited
- → Mutations in the SHANK2 synaptic scaffolding gene in autism spectrum disorder and mental retardation(2010)575 cited
- → Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders(2017)566 cited
- → Mutations in GRIN2A and GRIN2B encoding regulatory subunits of NMDA receptors cause variable neurodevelopmental phenotypes(2010)506 cited
- → Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency(1999)282 cited
- → Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III(2001)234 cited
- → De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability(2017)197 cited
- → Clinical Presentation of a Complex Neurodevelopmental Disorder Caused by Mutations in ADNP(2018)178 cited
- → Transcriptional regulator PRDM12 is essential for human pain perception(2015)171 cited
- → Next-generation sequencing in X-linked intellectual disability(2015)149 cited