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Journal Article (237)
1.
Journal Article
2020 (11), 11:5823 (2020)
Enhancer hijacking determines extrachromosomal circular MYCN amplicon architecture in neuroblastoma. Nature Communications 2.
Journal Article
22 (10), e19263 (2020)
Efficiency of Computer-Aided Facial Phenotyping (DeepGestalt) in Individuals With and Without a Genetic Syndrome: Diagnostic Accuracy Study. Journal of Medical Internet Research (JMIR) 3.
Journal Article
370 (6513), pp. 208 - 214 (2020)
The mole genome reveals regulatory rearrangements associated with adaptive intersexuality. Science 4.
Journal Article
106 (6), pp. 872 - 884 (2020)
Hi-C Identifies Complex Genomic Rearrangements and TAD-Shuffling in Developmental Diseases. The American Journal of Human Genetics 5.
Journal Article
181 (5), e30, pp. 1062 - 1079 (2020)
Unblending of Transcriptional Condensates in Human Repeat Expansion Disease. Cell 6.
Journal Article
61, 61:1-8 (2020)
The role of 3D chromatin domains in gene regulation: a multi-facetted view on genome organization. Current Opinion in Genetics & Development 7.
Journal Article
51 (8), pp. 1263 - 1271 (2019)
Functional dissection of the Sox9-Kcnj2 locus identifies nonessential and instructive roles of TAD architecture. Nature Genetics 8.
Journal Article
2019, 528877 (2019)
Preformed Chromatin Topology Assists Transcriptional Robustness of Shh during Limb Development. bioRxiv (Preprint Server) 9.
Journal Article
21 (3), pp. 305 - 310 (2019)
Serial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations. Nature Cell Biology 10.
Journal Article
115 (51), pp. 13021 - 13026 (2018)
Mutation in LBX1/Lbx1 precludes transcription factor cooperativity and causes congenital hypoventilation in humans and mice. Proceedings of the National Academy of Sciences of the United States of America 11.
Journal Article
10 (466), eaau7137 (2018)
Wnt1 is an Lrp5-independent bone-anabolic Wnt ligand. Science Translational Medicine 12.
Journal Article
20, pp. 1481 - 1482 (2018)
Response to Peron et al. GENETICS IN MEDICINE 13.
Journal Article
103 (5), pp. 512 - 521 (2018)
Comparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis. Calcified Tissue International 14.
Journal Article
8 (1), 14611 (2018)
Multisite de novo mutations in human offspring after paternal exposure to ionizing radiation. Scientific Reports 15.
Journal Article
50 (10), pp. 1463 - 1473 (2018)
Dynamic 3D chromatin architecture determines enhancer specificity and morphogenetic identity in limb development. Nature Genetics 16.
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 17.
Journal Article
113, pp. 29 - 40 (2018)
Transcriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses. Bone 18.
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 19.
Journal Article
19 (7), pp. 453 - 467 (2018)
Structural variation in the 3D genome. Nature Reviews Genetics 20.
Journal Article
20 (6), pp. 599 - 607 (2018)
Noncoding copy-number variations are associated with congenital limb malformation. GENETICS IN MEDICINE