Journal Article (420)
81.
Journal Article
50 (10), pp. 1442 - 1451 (2018)
De novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nature Genetics 82.
Journal Article
50 (10), pp. 1463 - 1473 (2018)
Dynamic 3D chromatin architecture determines enhancer specificity and morphogenetic identity in limb development. Nature Genetics 83.
Journal Article
176 (9), pp. 2028 - 2033 (2018)
A novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome. American Journal of Medical Genetics Part A 84.
Journal Article
113, pp. 29 - 40 (2018)
Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses. Bone 85.
Journal Article
2018, 13412 (2018)
The power of the Mediator complex—Expanding the genetic architecture and phenotypic spectrum of MED12‐related disorders. Clinical Genetics: an international journal of genetics in medicine 86.
Journal Article
293 (27), pp. 10810 - 10824 (2018)
O-GlcNAc transferase missense mutations linked to X-linked intellectual disability deregulate genes involved in cell fate determination and signaling. Journal of Biological Chemistry 87.
Journal Article
29 (7), pp. 1643 - 1651 (2018)
Mutational analysis uncovers monogenic bone disorders in women with pregnancy-associated osteoporosis: three novel mutations in LRP5, COL1A1, and COL1A2. Osteoporosis International 88.
Journal Article
19 (7), pp. 453 - 467 (2018)
Structural variation in the 3D genome. Nature Reviews Genetics 89.
Journal Article
20 (6), pp. 599 - 607 (2018)
Noncoding copy-number variations are associated with congenital limb malformation. GENETICS IN MEDICINE 90.
Journal Article
50 (5), pp. 662 - 667 (2018)
Polymer physics predicts the effects of structural variants on chromatin architecture. Nature Genetics 91.
Journal Article
41 (3), pp. 533 - 539 (2018)
Advances in computer-assisted syndrome recognition by the example of inborn errors of metabolism. Journal of Inherited Metabolic Disease 92.
Journal Article
46 (6), pp. 2868 - 2882 (2018)
Genomic dissection of enhancers uncovers principles of combinatorial regulation and dynamic wiring of enhancer-promoter contacts. Nucleic Acids Research (London) 93.
Journal Article
145 (7), dev161208 (2018)
Genome-wide strategies identify downstream target genes of connective tissue-associated transcription factors. Development 94.
Journal Article
MED13L-related intellectual disability: involvement of missense variants and delineation of the phenotype. Neurogenetics, pp. 1 - 11 (2018)
95.
Journal Article
176 (3), pp. 668 - 675 (2018)
Cutis Laxa and Excessive Bone Growth due to de novo mutations in PTDSS1. American Journal of Medical Genetics Part A 96.
Journal Article
9 (1), 9:10 (2018)
X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells. Biology of Sex Differences 97.
Journal Article
27 (4), pp. 589 - 600 (2018)
FRMPD4 mutations cause X-linked intellectual disability and disrupt dendritic spine morphogenesis. Human Molecular Genetics 98.
Journal Article
23 (2), pp. 222 - 230 (2018)
De novo and inherited mutations in the X-linked gene CLCN4 are associated with syndromic intellectual disability and behavior and seizure disorders in males and females. Molecular Psychiatry 99.
Journal Article
7 (1), bio.028498 (2018)
A dual transcript-discovery approach to improve the delimitation of gene features from RNA-seq data in the chicken model. Biology Open 100.
Journal Article
10 (1), 10(1):3 (2018)
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis. Genome Medicine