Publications
Export 4 results:
Author [ Title] Year Filters: Author is Campbell, Ian M and Keyword is Mutation [Clear All Filters]
Mutations in VRK1 associated with complex motor and sensory axonal neuropathy plus microcephaly. JAMA Neurol 70, 1491-8 (2013).
An Organismal CNV Mutator Phenotype Restricted to Early Human Development. Cell 168, 830-842.e7 (2017).
Parental somatic mosaicism is underrecognized and influences recurrence risk of genomic disorders. Am J Hum Genet 95, 173-82 (2014).
Somatic mosaicism: implications for disease and transmission genetics. Trends Genet 31, 382-92 (2015).