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.

Exome sequencing efficacy and phenotypic expansions involving esophageal atresia/tracheoesophageal fistula plus

- Sy, Mary R., Chauhan, Jaynee, Islam, Lily, Goel, Himanshu, Bain, Nicole, Park, Soo-Mi, Mohammed, Shehla, Dieterich, Klaus, Coutton, Charles, Satre, Veronique, Vieville, Gaelle, Donaldson, Alan, Prescott, Katrina, Beneteau, C, Ghoumid, J, Van den Bogaert, K, Boogaerts, A, Boudry, E, Vanlerberghe, C, Petit, F, Bernardini, L, Torres, B, Mattina, T, Imam, Aliza, Carli, D, Mandrile, G, Pinelli, M, Brunetti-Pierri, N, Neas, K, Beddow, R, Torring, PM, Faletra, F, Spedicati, B, Gasparini, P, Kraus, Alison, Mussa, A, Ferrero, GB, Lampe, A, Lam, W, Bi, W, Bacino, CA, Kuwahara, A, Bush, JO, Zhao, X, Luna, PN, Beleza, Ana, Shaw, CA, Rosenfeld, JA, Scott, DA, Salkeld, Lee, Hosdurga, Saraswati, Parker, Michael, Vasudevan, Pradeep

Expanding the phenotype of intellectual disability caused by HIVEP2 variants

- Goldsmith, Heidi, Wells, Anna, Sá, Maria J. N., Williams, Mark, Heussler, Helen, Buckman, Melissa, Pfundt, Rolph, de Vries, Bert B. A., Goel, Himanshu

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

L-carnitine supplementation for muscle weakness and fatigue in children with neurofibromatosis type 1: A Phase 2a clinical trial

- Vasiljevski, Emily R., Burns, Joshua, Baldwin, Jennifer N., Little, David G., Schindeler, Aaron, Bray, Paula, Donlevy, Gabrielle, Mudge, Anita J., Jones, Kristi J., Summers, Matthew A., Biggin, Andrew, Munns, Craig F., McKay, Marnee J.

Leukoencephalopathy with calcifications and cysts: Genetic and phenotypic spectrum

- Crow, Yanick J., Marshall, Heather, Bolduc, Francois, Boddaert, Natalie, Buckard, Johannes, Burnett, Heather, Calvert, Sophie, Caumes, Roseline, Ng, Andy Cheuk-Him, Chiang, Diana, Clifford, David B., Cordelli, Duccio M., Rice, Gillian I., Goel, Himanshu, Demic, N, Desguerre, I, De Waele, L, Di Fonzo, A, Dunham, SR, Dyack, S, Elmslie, F, Ferrand, M, Fisher, G, Seabra, Luis, Karimiani, EG, Ghoumid, J, Gibbon, F, Goel, H, Hilmarsen, HT, Hughes, I, Jacob, A, Jones, EA, Kumar, R, Leventer, RJ, Jenkinson, Emma M., MacDonald, S, Maroofian, R, Mehta, SG, Metz, I, Monfrini, E, Neumann, D, Noetzel, M, O'Driscoll, M, Õunap, K, Panzer, A, Baranano, Kristin, Parikh, S, Prabhakar, P, Ramond, F, Sandford, R, Saneto, R, Soh, C, Stutterd, CA, Subramanian, GM, Talbot, K, Thomas, RH, Battini, Roberta, Toro, C, Touraine, R, Wakeling, E, Wassmer, E, Whitney, A, Livingston, JH, O'Keefe, RT, Badrock, AP, Berger, Andrea, Blair, Edward, Blauwblomme, Thomas

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

Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects

- Zhao, Yingjie, Guo, Tingwei, Breckpot, Jeroen, Vermeesch, Joris, Chow, Eva W. C., Gothelf, Doron, Duijff, Sasja, Evers, Rens, van Amelsvoort, Thérèse, van den Bree, Marianne, Owen, Michael, Niarchou, Maria, Fiksinski, Ania, Campbell, Linda, Breetvelt, Elemi, McDonald-McGinn, Donna M., Crowley, Terrence B., Diacou, Alexander, Schneider, Maude, Eliez, Stephan, Swillen, Ann