Publications
Journal Article (357)
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1.Journal ArticleAltered microRNA and target gene expression related to Tetralogy of Fallot. Scientific Reports 9 (2019)
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2.Journal ArticleBMPR2 acts as a gatekeeper to protect endothelial cells from increased TGFβ responses and altered cell mechanics. PLoS Biology 17 (12) (2019)
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3.Journal ArticleCRUP: a comprehensive framework to predict condition-specific regulatory units. Genome Biology: Biology for the Post-Genomic Era 20 (2019)
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4.Journal ArticleFunctional dissection of the Sox9-Kcnj2 locus identifies nonessential and instructive roles of TAD architecture. Nature Genetics 51 (8), pp. 1263 - 1271 (2019)
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5.Journal ArticlePreformed Chromatin Topology Assists Transcriptional Robustness of Shh during Limb Development. bioRxiv (Preprint Server) 2019, 528877 (2019)
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6.Journal ArticleDeleterious de novo variants of X‐linked ZC4H2 in females cause a variable phenotype with neurogenic arthrogryposis multiplex congenita. Human Mutation 2019 (2019)
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7.Journal ArticleSerial genomic inversions induce tissue-specific architectural stripes, gene misexpression and congenital malformations. Nature Cell Biology 21 (3), pp. 305 - 310 (2019)
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8.Journal ArticleA recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation. Human Molecular Genetics 28 (4), pp. 598 - 614 (2019)
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9.Journal ArticleGPR126: A novel candidate gene implicated in autosomal recessive intellectual disability. Am J Med Genet A 179 (1), pp. 13 - 19 (2019)
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10.Journal ArticleEffect of inbreeding on intellectual disability revisited by Trio sequencing. Clinical Genetics: an international journal of genetics in medicine 95 (1), pp. 151 - 159 (2019)
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11.Journal ArticleMutation 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 115 (51), pp. 13021 - 13026 (2018)
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12.Journal ArticleWnt1 is an Lrp5-independent bone-anabolic Wnt ligand. Science Translational Medicine 10 (466) (2018)
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13.Journal ArticleResponse to Peron et al. GENETICS IN MEDICINE 20, pp. 1481 - 1482 (2018)
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14.Journal ArticleComparison of Bone Microarchitecture Between Adult Osteogenesis Imperfecta and Early-Onset Osteoporosis. Calcified Tissue International 103 (5), pp. 512 - 521 (2018)
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15.Journal ArticleMultisite de novo mutations in human offspring after paternal exposure to ionizing radiation. Scientific Reports 8 (1) (2018)
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16.Journal ArticleDe novo mutations in MSL3 cause an X-linked syndrome marked by impaired histone H4 lysine 16 acetylation. Nature Genetics 50 (10), pp. 1442 - 1451 (2018)
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17.Journal ArticleDynamic 3D chromatin architecture determines enhancer specificity and morphogenetic identity in limb development. Nature Genetics 50 (10), pp. 1463 - 1473 (2018)
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18.Journal ArticleA novel mutation in CDH11, encoding cadherin-11, cause Branchioskeletogenital (Elsahy-Waters) syndrome. American Journal of Medical Genetics Part A 176 (9), pp. 2028 - 2033 (2018)
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19.Journal ArticleTranscriptional profiling of murine osteoblast differentiation based on RNA-seq expression analyses. Bone 113, pp. 29 - 40 (2018)
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20.Journal ArticleThe 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 2018 (2018)