Lilian Bomme Ousager
University of Southern Denmark(DK)Odense University Hospital(DK)
Publications by Year
Research Areas
Genetic factors in colorectal cancer, Genomic variations and chromosomal abnormalities, Genomics and Rare Diseases, Genetics and Neurodevelopmental Disorders, Vascular Anomalies and Treatments
Most-Cited Works
- → CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila(2009)345 cited
- → X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes(2015)302 cited
- → Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)(2012)163 cited
- → von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance(2022)138 cited
- → Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy(2012)136 cited
- → Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome(2015)119 cited