Lilian Bomme Ousager

Author

Also Known As

Frederiksen, Anja L., L B Ousager, L. B. Ousager, L. Bomme Ousager, L.B. Ousager, Lilan Bomme Ousager, Lilian B Ousager, Lilian B. Ousager, Lilian Bomme Ousager, Lilian Ousager

112

Publications

2.8K

Citations

H-Index

Concepts

All Affiliations

Odense University Hospital University of Southern Denmark Rigshospitalet University of Copenhagen Aarhus University Hospital

About

Lilian Bomme Ousager is an author at Odense University Hospital specializing in medicine, genetics, and pathology.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	15	18	1K
2	Public Health	3	3	77
3	Engineering	1	1	26
4	Health Sciences	1	1	87
5	Nursing	1	1	34

Lilian Bomme Ousager

Publications

2.2K

Citations

H-Index

Page 1

	Year	Citations
CNTNAP2 and NRXN1 Are Mutated in Autosomal-Recessive Pitt-Hopkins-like Mental Retardation and Determine the Level of a Common Synaptic Protein in Drosophila Christiane Zweier, Eiko K. de Jong, Markus Zweier, The American Journal of Human Genetics Molecular NeuroscienceDevelopmental BiologyGenetic DisorderDevelopmental GeneticsGenetics	2009	343
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes Hao Hu, Stefan A. Haas, Jamel Chelly, Molecular Psychiatry	2015	299
Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5) Julia Pagel, Karin Beutel, Kai Lehmberg, Blood	2012	162
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy Johann Böhm, Valérie Biancalana, Elizabeth T. DeChene, Human Mutation Peripheral NeuropathyMendelian DisorderAutoimmune DiseaseSkeletal MuscleGenetic Disorder	2012	135
von Hippel-Lindau disease: Updated guideline for diagnosis and surveillance Marie Louise Mølgaard Binderup, Maja Patricia Smerdel, Line Borgwadt, European Journal of Medical Genetics	2022	132
Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome Saskia M. Maas, Adam Shaw, Hennie Bikker, European Journal of Medical Genetics Tricho-rhino-phalangeal SyndromeGeneticsGenetic EpidemiologyGenetic Disorder	2015	119
<i>De Novo</i>Heterozygous Mutations in<i>SMC3</i>Cause a Range of Cornelia de Lange Syndrome-Overlapping Phenotypes María Concepción Gil‐Rodríguez, Matthew A. Deardorff, Morad Ansari, Human Mutation Lysosomal Storage DiseaseGeneticsImmunodeficienciesGenetic EpidemiologySmc3 Mutation	2015	88
Von Hippel-Lindau disease (vHL). National clinical guideline for diagnosis and surveillance in Denmark. 3rd edition. Marie Louise Mølgaard Binderup, Marie Luise Bisgaard, Vibeke Harbud, PubMed Vhl GeneUrologyVon Hippel-lindau DiseaseVasculitisClinical Epidemiology	2013	87
De Novo Variants in GRIA4 Lead to Intellectual Disability with or without Seizures and Gait Abnormalities Sonja Martin, Adam Chamberlin, Deepali N. Shinde, The American Journal of Human Genetics Down SyndromeGria4 LeadGenetic DisorderGeneticsPsychiatric Genetics	2017	67
Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature Dmitrijs Rots, Eric Chater‐Diehl, Alexander J.M. Dingemans, The American Journal of Human Genetics	2021	67

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