Ingrid Bader
Paracelsus Medical University(AT)Universitätsklinikum Tübingen(DE)Military Medical Academy(EG)University of Tübingen(DE)
Publications by Year
Research Areas
Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Genomic variations and chromosomal abnormalities, Genomics and Chromatin Dynamics, Metabolism and Genetic Disorders
Most-Cited Works
- → Genetics of intellectual disability in consanguineous families(2018)210 cited
- → CADmutations and uridine-responsive epileptic encephalopathy(2016)122 cited
- → Expanding the clinical spectrum associated with defects in CNTNAP2 and NRXN1(2011)122 cited
- → CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language(2018)118 cited
- → X-linked Retinitis Pigmentosa:RPGRMutations in Most Families with Definite X Linkage and Clustering of Mutations in a Short Sequence Stretch of Exon ORF15(2003)116 cited
- → Phenotypes and genotypes in individuals with SMC1A variants(2017)96 cited