V. Kumar

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

The contribution of X-linked coding variation to severe developmental disorders

M. Hurles, R. Sandford, D. Baralle, 2020, Nature Communications.

Tumor risks and genotype–phenotype–proteotype analysis in 358 patients with germline mutations in SDHB and SDHD

Fiona Douglas, Louise Izatt, Patrick J Morrison, 2010, Human mutation.

Clinical manifestations of familial paraganglioma and phaeochromocytomas in succinate dehydrogenase B (SDH‐B) gene mutation carriers

D. Berney, U. Srirangalingam, R. Reznek, 2008, Clinical endocrinology.

Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders.

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.