Publications
Journal Article (12)
1.
Journal Article
3 (6), e200 (2017)
CDKL5 variants: Improving our understanding of a rare neurologic disorder. Neurology Genetics 2.
Journal Article
101 (5), pp. 833 - 843 (2017)
De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. The American Journal of Human Genetics 3.
Journal Article
140 (11), pp. 2879 - 2894 (2017)
Rare GABRA3 variants are associated with epileptic seizures, encephalopathy and dysmorphic features. Brain 4.
Journal Article
8 (1), 1218 (2017)
Odd skipped-related 1 identifies a population of embryonic fibro-adipogenic progenitors regulating myogenesis during limb development. Nature Communications 5.
Journal Article
49 (10), pp. 1539 - 1545 (2017)
Composition and dosage of a multipartite enhancer cluster control developmental expression of Ihh (Indian hedgehog). Nature Genetics 6.
Journal Article
25 (9), pp. 1078 - 1082 (2017)
Variant in the X-chromosome spliceosomal gene GPKOW causes male-lethal microcephaly with intrauterine growth restriction. European journal of human genetics 7.
Journal Article
3 (3), e148 (2017)
ARHGEF9 disease: Phenotype clarification and genotype-phenotype correlation. Neurology Genetics 8.
Journal Article
38 (4), pp. 409 - 425 (2017)
EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. Human Mutation 9.
Journal Article
605, pp. 92 - 98 (2017)
Mutations in two large pedigrees highlight the role of ZNF711 in X-linked intellectual disability. Gene 10.
Journal Article
8, 8:14536 (2017)
Epilepsy and intellectual disability linked protein Shrm4 interaction with GABABRs shapes inhibitory neurotransmission. Nature Communications 11.
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 12.
Journal Article
13 (1), e1006567 (2017)
Genome-Wide Binding of Posterior HOXA/D Transcription Factors Reveals Subgrouping and Association with CTCF. PLoS Genetics