List of publications
Journal Article (5)
1.
Journal Article
8, 8:85 (2016)
Novel Missense Mutation A789V in IQSEC2 Underlies X-Linked Intellectual Disability in the MRX78 Family. Frontiers in Molecular Neuroscience 2.
Journal Article
170 (1), pp. 94 - 102 (2016)
Tentative clinical diagnosis of Lujan-Fryns syndrome-A conglomeration of different genetic entities? American Journal of Medical Genetics Part A 3.
Journal Article
21 (1), pp. 133 - 148 (2016)
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Molecular Psychiatry 4.
Journal Article
89 (1), pp. 120 - 127 (2016)
New insights into Brunner syndrome and potential for targeted therapy. Clinical Genetics: an international journal of genetics in medicine 5.
Journal Article
11 (2), e0147904 (2016)
Analysis of Genes Involved in Body Weight Regulation by Targeted Re-Sequencing. PLoS One