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Methods in Molecular Biology, ISSN 1064-3745, 2017, Volume 1468, pp. 221 - 234
Targeted mutagenesis is required to evaluate the function of DNA segments across the genome. In recent years the CRISPR/Cas9 technology has been widely used... 
CRISPR | Genome engineering | Indels | Mouse | Structural variants | Point mutation | Cas9 | ES cells | Animals | Genetic Engineering | Transfection | CRISPR-Cas Systems | Mouse Embryonic Stem Cells - cytology | Mice | Models, Genetic | Mutation | Gene Editing | Index Medicus
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 10/2016, Volume 25, Issue 2, pp. R157 - R165
Over the past decades the search for disease causing variants has been focusing exclusively on the coding genome. This highly selective approach has been... 
LIMB | SEX REVERSAL | DISRUPTION | CAMPOMELIC DYSPLASIA | BIOCHEMISTRY & MOLECULAR BIOLOGY | GENETICS & HEREDITY | ENHANCER | MUTATIONS | EXPRESSION | REGULATORY LANDSCAPE | GENOME | RANGE
Journal Article
Journal Article
BioEssays, ISSN 0265-9247, 06/2013, Volume 35, Issue 6, pp. 533 - 543
Journal Article
Genetics in Medicine, ISSN 1098-3600, 11/2018, Volume 20, Issue 11, pp. 1481 - 1482
Journal Article
Human Mutation, ISSN 1059-7794, 2015, Volume 36, Issue 8, pp. 815 - 822
For next-generation sequencing technologies, sufficient base-pair coverage is the foremost requirement for the reliable detection of genomic variants. We... 
coverage | genome sequencing | exome sequencing | Genome sequencing | Coverage | Exome sequencing | ACCURATE | WHOLE-GENOME | VARIANTS | SNP | BIAS | GENES | GENETICS & HEREDITY | ENRICHMENT | COPY-NUMBER VARIATION | Exome | Genome, Human | High-Throughput Nucleotide Sequencing - methods | Humans | Open Reading Frames | Proteins | Genomes | Mutation | Index Medicus | Methods
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 04/2019, Volume 56, Issue 4, pp. 246 - 251
Background Structural variants (SVs) affecting non-coding cis-regulatory elements are a common cause of congenital limb malformation. Yet, the functional... 
non coding mutations | cnvs | liebenberg | pitx1 | TRANSFORMATION | UPSTREAM | CRISPR/CAS | GENETICS & HEREDITY | CRISPR | Transformation | Gene regulation | Genes | Transgenic mice | Genomes | Regulatory sequences | Family medical history | Gene deletion | Promoters | Morphogenesis | Pathogenicity | Clonal deletion | Morphology | Stem cells | Deoxyribonucleic acid--DNA
Journal Article
Cell Reports, ISSN 2211-1247, 02/2015, Volume 10, Issue 5, pp. 833 - 839
Structural variations (SVs) contribute to the variability of our genome and are often associated with disease. Their study in model systems was hampered until... 
ENDONUCLEASE | ZEBRAFISH | GENOMIC REARRANGEMENTS | EMBRYONIC STEM-CELLS | DISEASE | ENHANCER | CHROMOSOMAL DELETIONS | GENERATION | LOCUS | REGULATORY LANDSCAPE | CELL BIOLOGY
Journal Article
medizinische genetik, ISSN 0936-5931, 03/2015, Volume 27, Issue 1, p. 19
Trotz der enormen Fortschritte genomweiter Analyseverfahren bleiben uber 40% der Patienten in der Humangenetik ohne molekulare Diagnose. Dies konnte unter... 
Genetic disorders | Analysis | Genomics | Cytogenetics
Journal Article
Medizinische Genetik, ISSN 0936-5931, 03/2015, Volume 27, Issue 1, pp. 19 - 30
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 10/2012, Volume 91, Issue 4, pp. 629 - 635
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/2017, Volume 54, Issue 11, pp. 754 - 761
Journal Article