The genetics of overgrowth syndromes
- Creator: Kamien, Benjamin
- Resource Type: thesis
- Date: 2021
A clinical review of generalized overgrowth syndromes in the era of massively parallel sequencing
- Creator: Kamien, Benjamin , Ronan, Anne , Poke, Gemma , Sinnerbrink, Ingrid , Baynam, Gareth , Ward, Michelle , Gibson, William T. , Dudding-Byth, Tracy , Scott, Rodney J.
- Resource Type: journal article
- Date: 2018
Atypical Angelman syndrome due to a mosaic imprinting defect: case reports and review of the literature
- Creator: Le Fevre, Anna , Beygo, Jasmin , Silveira, Cheryl , Kamien, Benjamin , Clayton-Smith, Jill , Colley, Alison , Buiting, Karin , Dudding-Byth, Tracy
- Resource Type: journal article
- Date: 2017
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia
- Creator: 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
- Resource Type: journal article
- Date: 2017
Characterization of a 520 kb deletion on chromosome 15q26.1 including ST8SIA2 in a patient with behavioral disturbance, autism spectrum disorder, and epilepsy
- Creator: Kamien, Benjamin , Harraway, James , Lundie, Ben , Smallhorne, Lex , Gibbs, Vicki , Heath, Anna , Fullerton, Janice M.
- Resource Type: journal article
- Date: 2014