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Journal Article (29)
1.
Journal Article
Non-coding deletions identify Maenli lncRNA as a limb-specific En1 regulator. Nature (2021)
2.
Journal Article
370 (6518), eaba7721 (2020)
A human cell atlas of fetal gene expression. Science 3.
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) 4.
Journal Article
Single-cell sequencing of the human midbrain reveals glial activation and a neuronal state specific to Parkinson's disease. medRxiv (The Preprint Server for health sciences.) (2020)
5.
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 6.
Journal Article
20, pp. 1481 - 1482 (2018)
Response to Peron et al. GENETICS IN MEDICINE 7.
Journal Article
50 (10), pp. 1463 - 1473 (2018)
Dynamic 3D chromatin architecture determines enhancer specificity and morphogenetic identity in limb development. Nature Genetics 8.
Journal Article
19 (7), pp. 453 - 467 (2018)
Structural variation in the 3D genome. Nature Reviews Genetics 9.
Journal Article
20 (6), pp. 599 - 607 (2018)
Noncoding copy-number variations are associated with congenital limb malformation. GENETICS IN MEDICINE 10.
Journal Article
538 (7624), pp. 265 - 269 (2016)
Formation of novel chromatin domains determines pathogenicity of genomic duplications. Nature 11.
Journal Article
25 (R2), pp. R157 - R165 (2016)
Looking beyond the genes: the role of non-coding variants in human disease. Human Molecular Genetics 12.
Journal Article
24 (8), pp. 1132 - 1136 (2016)
Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia. European journal of human genetics 13.
Journal Article
170A (5), pp. 1202 - 1207 (2016)
Femoral facial syndrome associated with a de novo complex chromosome 2q37 rearrangement. American Journal of Medical Genetics Part A 14.
Journal Article
32 (4), pp. 225 - 237 (2016)
Breaking TADs: How Alterations of Chromatin Domains Result in Disease. Trends in Genetics 15.
Journal Article
170 (3), pp. 615 - 621 (2016)
A homozygous HOXD13 missense mutation causes a severe form of synpolydactyly with metacarpal to carpal transformation. American Journal of Medical Genetics Part A 16.
Journal Article
26 (2), pp. 183 - 191 (2016)
Exome Sequencing and CRISPR/Cas Genome Editing Identify Mutations of ZAK as a Cause of Limb Defects in Humans and Mice. Genome Research 17.
Journal Article
58 (8), pp. 376 - 380 (2015)
FGFR2 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 18.
Journal Article
36 (8), pp. 815 - 822 (2015)
Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions. Human Mutations 19.
Journal Article
52 (7), pp. 476 - 483 (2015)
Microdeletions on 6p22.3 are associated with mesomelic dysplasia Savarirayan type. Journal of Medical Genetics 20.
Journal Article
23 (6), pp. 1870 - 1873 (2015)
Somatic neurofibromatosis type 1 (NF1) inactivation events in cutaneous neurofibromas of a single NF1 patient. European journal of human genetics