Exome-wide assessment of the functional impact and pathogenicity of multinucleotide mutations - Kaplanis, Joanna; Akawi, Nadia; Gallone, Giuseppe; McRae, Jeremy F.; Prigmore, Elena; Wright, Caroline F.; Fitzpatrick, David R.; Firth, Helen V.; Barrett, Jeffrey C.; Hurles, Matthew E.; on behalf of the Deciphering Developmental Disorders study (Genome Research, 2019)