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Geiger EA
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Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation
The 22q11 low copy repeats are characterized by unprecedented size and structural variability
Discovery of a potentially deleterious variant in TMEM87B in a patient with a hemizygous 2q13 microdeletion suggests a recessive condition characterized by congenital heart disease and restrictive cardiomyopathy
Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1
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