Jessica A Bucher

Evaluation and classification of severity for 176 genes on an expanded carrier screening panel

J. Hoffman, K. J. Taber, R. Ben-Shachar, 2019, Prenatal diagnosis.

Application of a severity framework to 176 genes on an expanded carrier screening panel

J. Hoffman, K. J. Taber, R. Slotnick, 2019 .

Further delineation of the KAT6B molecular and phenotypic spectrum

W. Reardon, K. Devriendt, J. Clayton-Smith, 2014, European Journal of Human Genetics.