Publications
Export 5 results:
Author Title [ Year
Filters: Keyword is Chromosome Duplication [Clear All Filters]
22q11.2q13 duplication including SOX10 causes sex-reversal and peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and Hirschsprung disease. Am J Med Genet A 173, 1066-1070 (2017).
An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell 168, 830-842.e7 (2017).
Mechanisms for the Generation of Two Quadruplications Associated with Split-Hand Malformation. Hum Mutat 37, 160-4 (2016).
Gigantism and acromegaly due to Xq26 microduplications and GPR101 mutation. N Engl J Med 371, 2363-74 (2014).