List of publications
Journal Article (48)
1.
Journal Article
140 (11), pp. 2879 - 2894 (2017)
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features. Brain 2.
Journal Article
2017 (3), pp. 696 - 703 (2017)
Haplotype-resolved sweet potato genome traces back its hexaploidization history. Nature Plants 3.
Journal Article
38 (4), pp. 409 - 425 (2017)
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. Human Mutation 4.
Journal Article
27 (2), pp. 223 - 233 (2017)
Characterization of hundreds of regulatory landscapes in developing limbs reveals two regimes of chromatin folding. Genome Research 5.
Journal Article
13 (1), e1006567 (2017)
Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF. PLoS Genetics 6.
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 7.
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 8.
Journal Article
21 (1), pp. 133 - 148 (2016)
X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Molecular Psychiatry 9.
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 10.
Journal Article
11 (2), e0147904 (2016)
Analysis of Genes Involved in Body Weight Regulation by Targeted Re-Sequencing. PLoS One 11.
Journal Article
24 (25), pp. 7171 - 7181 (2015)
Increased STAG2 dosage defines a novel cohesinopathy with intellectual disability and behavioral problems. Human Molecular Genetics 12.
Journal Article
36 (12), pp. 1155 - 1158 (2015)
A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia. Human Mutation 13.
Journal Article
524 (7563), pp. 47 - 53 (2015)
Comprehensive genomic profiles of small cell lung cancer. Nature 14.
Journal Article
97 (2), pp. 302 - 310 (2015)
THOC2 Mutations Implicate mRNA-Export Pathway in X-Linked Intellectual Disability. The American Journal of Human Genetics 15.
Journal Article
97 (2), pp. 343 - 352 (2015)
Mutations in DDX3X Are a Common Cause of Unexplained Intellectual Disability with Gender-Specific Effects on Wnt Signaling. The American Journal of Human Genetics 16.
Journal Article
161 (5), pp. 1012 - 1025 (2015)
Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions. Cell 17.
Journal Article
16, 16:7 (2015)
Identification of novel fusion genes in lung cancer using breakpoint assembly of transcriptome sequencing data. Genome Biology: Biology for the Post-Genomic Era 18.
Journal Article
36 (1), pp. 106 - 117 (2015)
Variants in CUL4B are Associated with Cerebral Malformations. Human Mutation 19.
Journal Article
95 (6), pp. 729 - 735 (2014)
Mutations in RAB39B Cause X-Linked Intellectual Disability and Early-Onset Parkinson Disease with alpha-Synuclein Pathology. The American Journal of Human Genetics 20.
Journal Article
30 (17), pp. 2456 - 2463 (2014)
Inferring the paths of somatic evolution in cancer. Bioinformatics