Diagnosis of lethal or prenatal‐onset autosomal recessive disorders by parental exome sequencingKaren Stals, Sian Ellard, Carolyn Tysoe et al.|Prenatal Diagnosis|2017Cited by 78
Variable skeletal phenotypes associated with biallelic variants in <i>PRKG2</i>Alistair T. Pagnamenta, Jenny C. Taylor, Francisca Díaz et al.|Journal of Medical Genetics|2021Cited by 15
The prevalence and phenotypic range associated with biallelic <scp> <i>PKDCC</i> </scp> variantsAlistair T. Pagnamenta, Jenny C. Taylor, Rebecca S. Belles et al.|Clinical Genetics|2023Cited by 8