Sheila Upton

Clinical features associated with copy number variations of the 14q32 imprinted gene cluster

J. Rosenfeld, L. Shaffer, B. Ballif, 2015, American journal of medical genetics. Part A.

6q22.1 microdeletion and susceptibility to pediatric epilepsy

J. Rosenfeld, L. Shaffer, P. Stankiewicz, 2014, European Journal of Human Genetics.

Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases

J. Rosenfeld, L. Shaffer, J. Ellison, 2012, neurogenetics.

Dysregulation of N-terminal acetylation causes cardiac arrhythmia and cardiomyopathy

Joseph E. Milosh, Vassilios J. Bezzerides, W. Pu, 2023, bioRxiv.

Speech characteristics in the Kabuki syndrome

E. Wulfsberg, P. Landis, Sheila Upton, 2003, American journal of medical genetics. Part A.

Genotype–phenotype correlation in interstitial 6q deletions: a report of 12 new cases

J. Rosenfeld, L. Shaffer, J. Ellison, 2012, neurogenetics.