Publication 'Small cost to pay for peace of mind': Women's experiences with non-invasive prenatal testing.
Publication "Both Sides of the Wheelchair": The Views of Individuals with, and Parents of Individuals with Friedreich Ataxia Regarding Pre-symptomatic Testing of Minors.
Publication 14q12 microdeletions excluding FOXG1 give rise to a congenital variant Rett syndrome-like phenotype.
Publication 22q11.2 rearrangements found in women with low ovarian reserve and premature ovarian insufficiency.
Publication A case of myelopathy, myopathy, peripheral neuropathy and subcortical grey matter degeneration associated with recessive compound heterozygous POLG1 mutations.
Publication A cough algorithm for chronic cough in children: a multicenter, randomized controlled study.
Publication A Genetic Counseling Intervention to Facilitate Family Communication About Inherited Conditions.
Publication A genome-wide sib-pair scan for quantitative language traits reveals linkage to chromosomes 10 and 13.
Publication A mixed methods exploration of families' experiences of the diagnosis of childhood spinal muscular atrophy.
