A de novo mutation in KMT2A (MLL) in monozygotic twins with Wiedemann-Steiner syndrome

- Dunkerton, Sophie, Field, Matthew, Cho, Vicki, Bertram, Edward, Whittle, Belinda, Groves, Alexandra, Goel, Himanshu

A novel genetic syndrome characterized by pediatric cataract, dysmorphism, ectodermal features, and developmental delay in an Indigenous Australian family

- Burdon, Kathryn P., Durkin, Shane R., Burke, Mary, Edwards, Matthew, Pater, John, Straga, Tania, Gecz, Jozef, Liebelt, Jan E., Craig, Jamie E.

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

Atypical Angelman syndrome with macrocephaly due to a familial imprinting center deletion

- Ronan, Anne, Buiting, Karin, Dudding, Tracy

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.

FOXP1 mutations cause intellectual disability and a recognizable phenotype

- Le Fevre, Anna K., Taylor, Sharelle, Bain, Nicole, Fagan, Kerry, Hunter, Matthew F., Malek, Neva H., Horn, Denise, Carr, Christopher W., Abdul-Rahman, Omar A., O'Donnell, Sherindan, Burgess, Trent, Shaw, Marie, Gecz, Jozef

Partially methylated alleles, microdeletion, and tissue mosaicism in a fragile X male with tremor and ataxia at 30 years of age: a case report

- Hwang, Yun Tae, Aliaga, Solange Mabel, Heard, Robert, Godler, David Eugeny, Arpone, Marta, Francis, David, Li, Xin, Chong, Belinda, Slater, Howard Robert, Rogers, Carolyn, Bretherton, Lesley, Hunter, Matthew

Recurrent ATP2A2 p.(Pro602Leu) mutation differentiates Acrokeratosis verruciformis of Hopf from the allelic condition Darier disease

- Ronan, Anne, Ingrey, Angela, Murray, Natalia, Chee, Paul

Sotos syndrome: an unusual presentation with intrauterine growth restriction, generalized lymphedema, and intention tremor

- McClelland, Jessie, Burgess, Bronwyn, Crock, Patricia, Goel, Himanshu

Two new cases with microdeletion of 17q23.2 suggest presence of a candidate gene for sensorineural hearing loss within this region

- Schönewolf-Greulich, Bitten, Ronan, Anne, Ravn, Kristine, Baekgaard, Peter, Lodahl, Marianne, Nielsen, Kate, Rendtorff, Nanna D., Tranebjaerg, Lisbeth, Brøndum-Nielsen, Karen, Tümer, Zeynep