Elizabeth A. Geiger

Chromosome Breakpoints

Genomic regions associated with microdeletion/microduplication syndromes exhibit extreme diversity of structural variation

Yulia Mostovoy

• Feb 1, 2021 • 1 min read

22q11 Deletion Syndrome

The 22q11 low copy repeats are characterized by unprecedented size and structural variability

Wolfram Demaerel

• Sep 1, 2019 • 1 min read

Intellectual Disability

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

Hung-Chun Yu

• May 1, 2016 • 1 min read

Alpers Syndrome

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder

Curtis R. Coughlin

• Aug 1, 2015 • 1 min read

An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1

Hung-Chun Yu

• Sep 1, 2013 • 1 min read