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Journal Article (24)
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1.Journal ArticleResponse to Peron et al. GENETICS IN MEDICINE 20, pp. 1481 - 1482 (2018)
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2.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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3.Journal ArticleStructural variation in the 3D genome. Nature Reviews Genetics 19 (7), pp. 453 - 467 (2018)
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4.Journal ArticleNoncoding copy-number variations are associated with congenital limb malformation. GENETICS IN MEDICINE 20 (6), pp. 599 - 607 (2018)
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5.Journal ArticleFormation of novel chromatin domains determines pathogenicity of genomic duplications. Nature 538 (7624), pp. 265 - 269 (2016)
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6.Journal ArticleLooking beyond the genes: the role of non-coding variants in human disease. Human Molecular Genetics 25 (R2), pp. R157 - R165 (2016)
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7.Journal ArticleDuplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia. European journal of human genetics 24 (8), pp. 1132 - 1136 (2016)
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8.Journal ArticleFemoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement. American Journal of Medical Genetics Part A 170A (5), pp. 1202 - 1207 (2016)
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9.Journal ArticleBreaking TADs: How Alterations of Chromatin Domains Result in Disease. Trends in Genetics 32 (4), pp. 225 - 237 (2016)
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10.Journal ArticleA homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation. American Journal of Medical Genetics Part A 170 (3), pp. 615 - 621 (2016)
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11.Journal ArticleExome Sequencing and CRISPR/Cas Genome Editing Identify Mutations of ZAK as a Cause of Limb Defects in Humans and Mice. Genome Research 26 (2), pp. 183 - 191 (2016)
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12.Journal ArticleFGFR2 mutation in a patient without typical features of Pfeiffer syndrome--The emerging role of combined NGS and phenotype based strategies. European Journal of Medical Genetics 58 (8), pp. 376 - 380 (2015)
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13.Journal ArticleComparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions. Human Mutations 36 (8), pp. 815 - 822 (2015)
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14.Journal ArticleMicrodeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type. Journal of Medical Genetics 52 (7), pp. 476 - 483 (2015)
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15.Journal ArticleSomatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient. European journal of human genetics 23 (6), pp. 1870 - 1873 (2015)
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16.Journal ArticleDisruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions. Cell 161 (5), pp. 1012 - 1025 (2015)
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17.Journal ArticleDeletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice. Cell Reports 10 (5), pp. 833 - 839 (2015)
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18.Journal ArticleHomozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. The American Journal of Human Genetics 95 (6), pp. 763 - 770 (2014)
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19.Journal ArticleMicroduplications encompassing the Sonic hedgehog limb enhancer ZRS are associated with Haas-type polysyndactyly and Laurin-Sandrow syndrome. Clinical Genetics: an international journal of genetics in medicine 86 (4), pp. 318 - 325 (2014)
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20.Journal ArticleDeletions of chromosomal regulatory boundaries are associated with congenital disease. Genome Biology: Biology for the Post-Genomic Era 15 (2014)