The genetics of overgrowth syndromes

- Kamien, Benjamin

A clinical review of generalized overgrowth syndromes in the era of massively parallel sequencing

- Kamien, Benjamin, Ronan, Anne, Poke, Gemma, Sinnerbrink, Ingrid, Baynam, Gareth, Ward, Michelle, Gibson, William T., Dudding-Byth, Tracy, Scott, Rodney J.

Atypical Angelman syndrome due to a mosaic imprinting defect: case reports and review of the literature

- Le Fevre, Anna, Beygo, Jasmin, Silveira, Cheryl, Kamien, Benjamin, Clayton-Smith, Jill, Colley, Alison, Buiting, Karin, Dudding-Byth, Tracy

Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia

- Zambonin, Jessica L., Bellomo, Allison, Koenig, Mary Kay, Lines, Matthew, Palmer, Elizabeth Emma, Richardson, Randal, Segel, Reeval, Tarnopolsky, Mark, Vanstone, Jason R., Gibbons, Melissa, Collins, Abigail, Fogel, Brent L., Ben-Pazi, Hilla, Dudding-Byth, Tracy, Boycott, Kym M., Everman, David B., Frazer, Lee M., Geraghty, Michael T., Harper, Amy D., Jones, Julie R., Kamien, Benjamin, Kernohan, Kristin

Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy

- Kamien, Benjamin, Harraway, James, Lundie, Ben, Smallhorne, Lex, Gibbs, Vicki, Heath, Anna, Fullerton, Janice M.