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Journal Article (28)
21.
Journal Article
10 (5), pp. 833 - 839 (2015)
Deletions, Inversions, Duplications: Engineering of Structural Variants using CRISPR/Cas in Mice. Cell Reports 22.
Journal Article
95 (6), pp. 763 - 770 (2014)
Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome. The American Journal of Human Genetics 23.
Journal Article
86 (4), pp. 318 - 325 (2014)
Microduplications 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 24.
Journal Article
15, 15:423 (2014)
Deletions of chromosomal regulatory boundaries are associated with congenital disease. Genome Biology: Biology for the Post-Genomic Era 25.
Journal Article
6 (252), 252ra123 (2014)
Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome. Science Translational Madicine 26.
Journal Article
2014, 9:108 (2014)
Deletions of exons with regulatory activity at the DYNC1I1 locus are associated with split-hand/split-foot malformation: array CGH screening of 134 unrelated families. Orphanet Journal of Rare Diseases 27.
Journal Article
91 (4), pp. 629 - 635 (2012)
Homeotic arm-to-leg transformation associated with genomic rearrangements at the PITX1 locus. American Journal of Human Genetics 28.
Journal Article
54 (4), pp. e441 - 5 (2011)
Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings. Eur J Med Genet