FKBP14 kyphoscoliotic Ehlers–Danlos syndrome misdiagnosed as Larsen syndrome: a case report

por Wiegand, Amy, Kastury, Rama, Neogi, Arpita, Mani, Arya, Bale, Allen, Cox, Allison
Publicado 2023

Australian Maltreated Infants and Young Children Can Achieve Positive Relational Health With Neurodevelopmentally- and Trauma-Informed Interventions Provided Within Relationally-Po...

por Cox, Allison, Frederico, Margarita, Mosse, Holly, Radford, Lyn, Ambry, Dallas, Ryan, Clare
Publicado 2021

An experimental assessment of in silico haplotype association mapping in laboratory mice

por Burgess-Herbert, Sarah L, Tsaih, Shirng-Wern, Stylianou, Ioannis M, Walsh, Kenneth, Cox, Allison J, Paigen, Beverly
Publicado 2009

Providing therapeutic services to women and children who have experienced intimate partner violence during the COVID-19 pandemic: Challenges and learnings

por Fogarty, Alison, Savopoulos, Priscilla, Seymour, Monique, Cox, Allison, Williams, Kirsten, Petrie, Skye, Herman, Sue, Toone, Emma, Schroeder, Kim, Giallo, Rebecca
Publicado 2022

In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth.

por Cox, Allison J., Grady, Fillan, Velez, Gabriel, Mahajan, Vinit B., Ferguson, Polly J., Kitchen, Andrew, Darbro, Benjamin W., Bassuk, Alexander G.
Publicado 2019

Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)

por Cox, Allison J., Darbro, Benjamin W., Laxer, Ronald M., Velez, Gabriel, Bing, Xinyu, Finer, Alexis L., Erives, Albert, Mahajan, Vinit B., Bassuk, Alexander G., Ferguson, Polly J.
Publicado 2017

Correction: Recessive coding and regulatory mutations in FBLIM1 underlie the pathogenesis of chronic recurrent multifocal osteomyelitis (CRMO)

por Cox, Allison J., Darbro, Benjamin W., Laxer, Ronald M., Velez, Gabriel, Bing, Xinyu, Finer, Alexis L., Erives, Albert, Mahajan, Vinit B., Bassuk, Alexander G., Ferguson, Polly J.
Publicado 2017

Gain-of-function mutations in a member of the Src family kinases cause autoinflammatory bone disease in mice and humans

por Abe, Koichiro, Cox, Allison, Takamatsu, Nobuhiko, Velez, Gabriel, Laxer, Ronald M., Tse, Shirley M. L., Mahajan, Vinit B., Bassuk, Alexander G., Fuchs, Helmut, Ferguson, Polly J., Hrabe de Angelis, Martin
Publicado 2019

Calpain-5 Expression in the Retina Localizes to Photoreceptor Synapses

por Schaefer, Kellie A., Toral, Marcus A., Velez, Gabriel, Cox, Allison J., Baker, Sheila A., Borcherding, Nicholas C., Colgan, Diana F., Bondada, Vimala, Mashburn, Charles B., Yu, Chen-Guang, Geddes, James W., Tsang, Stephen H., Bassuk, Alexander G., Mahajan, Vinit B.
Publicado 2016

Seizures Are Regulated by Ubiquitin-specific Peptidase 9 X-linked (USP9X), a De-Ubiquitinase

por Paemka, Lily, Mahajan, Vinit B., Ehaideb, Salleh N., Skeie, Jessica M., Tan, Men Chee, Wu, Shu, Cox, Allison J., Sowers, Levi P., Gecz, Jozef, Jolly, Lachlan, Ferguson, Polly J., Darbro, Benjamin, Schneider, Amy, Scheffer, Ingrid E., Carvill, Gemma L., Mefford, Heather C., El-Shanti, Hatem, Wood, Stephen A., Manak, J. Robert, Bassuk, Alexander G.
Publicado 2015

Biallelic SCN10A mutations in neuromuscular disease and epileptic encephalopathy

por Kambouris, Marios, Thevenon, Julien, Soldatos, Ariane, Cox, Allison, Stephen, Joshi, Ben‐Omran, Tawfeg, Al‐Sarraj, Yasser, Boulos, Hala, Bone, William, Mullikin, James C., Masurel‐Paulet, Alice, St‐Onge, Judith, Dufford, Yannis, Chantegret, Corrine, Thauvin‐Robinet, Christel, Al‐Alami, Jamil, Faivre, Laurence, Riviere, Jean Baptiste, Gahl, William A., Bassuk, Alexander G., Malicdan, May Christine V., El‐Shanti, Hatem
Publicado 2016

A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction

por Hildebrand, Joanne M., Kauppi, Maria, Majewski, Ian J., Liu, Zikou, Cox, Allison J., Miyake, Sanae, Petrie, Emma J., Silk, Michael A., Li, Zhixiu, Tanzer, Maria C., Brumatti, Gabriela, Young, Samuel N., Hall, Cathrine, Garnish, Sarah E., Corbin, Jason, Stutz, Michael D., Di Rago, Ladina, Gangatirkar, Pradnya, Josefsson, Emma C., Rigbye, Kristin, Anderton, Holly, Rickard, James A., Tripaydonis, Anne, Sheridan, Julie, Scerri, Thomas S., Jackson, Victoria E., Czabotar, Peter E., Zhang, Jian-Guo, Varghese, Leila, Allison, Cody C., Pellegrini, Marc, Tannahill, Gillian M., Hatchell, Esme C., Willson, Tracy A., Stockwell, Dina, de Graaf, Carolyn A., Collinge, Janelle, Hilton, Adrienne, Silke, Natasha, Spall, Sukhdeep K., Chau, Diep, Athanasopoulos, Vicki, Metcalf, Donald, Laxer, Ronald M., Bassuk, Alexander G., Darbro, Benjamin W., Fiatarone Singh, Maria A., Vlahovich, Nicole, Hughes, David, Kozlovskaia, Maria, Ascher, David B., Warnatz, Klaus, Venhoff, Nils, Thiel, Jens, Biben, Christine, Blum, Stefan, Reveille, John, Hildebrand, Michael S., Vinuesa, Carola G., McCombe, Pamela, Brown, Matthew A., Kile, Benjamin T., McLean, Catriona, Bahlo, Melanie, Masters, Seth L., Nakano, Hiroyasu, Ferguson, Polly J., Murphy, James M., Alexander, Warren S., Silke, John
Publicado 2020