A mutation in a novel ATP-dependent Lon protease gene in a kindred with mild mental retardation

Por Higgins, Joseph J., Pucilowska, Joanna, Lombardi, Roni Q., Rooney, John P.
Publicado em 2004

Lack of association between autism and anti-GM1 ganglioside antibody

Por Moeller, Sina, Lau, Nga M., Green, Peter H.R., Hellberg, Dan, Higgins, Joseph J., Rajadhyaksha, Anjali M., Alaedini, Armin
Publicado em 2013

Markers of Celiac Disease and Gluten Sensitivity in Children with Autism

Por Lau, Nga M., Green, Peter H. R., Taylor, Annette K., Hellberg, Dan, Ajamian, Mary, Tan, Caroline Z., Kosofsky, Barry E., Higgins, Joseph J., Rajadhyaksha, Anjali M., Alaedini, Armin
Publicado em 2013

Mutations in FLVCR1 Cause Posterior Column Ataxia and Retinitis Pigmentosa

Por Rajadhyaksha, Anjali M., Elemento, Olivier, Puffenberger, Erik G., Schierberl, Kathryn C., Xiang, Jenny Z., Putorti, Maria L., Berciano, José, Poulin, Chantal, Brais, Bernard, Michaelides, Michel, Weleber, Richard G., Higgins, Joseph J.
Publicado em 2010

A brief review of recent Charcot-Marie-Tooth research and priorities

Por Ekins, Sean, Litterman, Nadia K., Arnold, Renée J.G., Burgess, Robert W., Freundlich, Joel S., Gray, Steven J., Higgins, Joseph J., Langley, Brett, Willis, Dianna E., Notterpek, Lucia, Pleasure, David, Sereda, Michael W., Moore, Allison
Publicado no F1000Res (2015)

Mechanism, Prevalence, and More Severe Neuropathy Phenotype of the Charcot-Marie-Tooth Type 1A Triplication

Por Liu, Pengfei, Gelowani, Violet, Zhang, Feng, Drory, Vivian E., Ben-Shachar, Shay, Roney, Erin, Medeiros, Adam C., Moore, Rebecca J., DiVincenzo, Christina, Burnette, William B., Higgins, Joseph J., Li, Jun, Orr-Urtreger, Avi, Lupski, James R.
Publicado em 2014

The allelic spectrum of Charcot–Marie–Tooth disease in over 17,000 individuals with neuropathy

Por DiVincenzo, Christina, Elzinga, Christopher D, Medeiros, Adam C, Karbassi, Izabela, Jones, Jeremiah R, Evans, Matthew C, Braastad, Corey D, Bishop, Crystal M, Jaremko, Malgorzata, Wang, Zhenyuan, Liaquat, Khalida, Hoffman, Carol A, York, Michelle D, Batish, Sat D, Lupski, James R, Higgins, Joseph J
Publicado no Mol Genet Genomic Med (2014)

A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders

Por Karbassi, Izabela, Maston, Glenn A., Love, Angela, DiVincenzo, Christina, Braastad, Corey D., Elzinga, Christopher D., Bright, Alison R., Previte, Domenic, Zhang, Ke, Rowland, Charles M., McCarthy, Michele, Lapierre, Jennifer L., Dubois, Felicita, Medeiros, Katelyn A., Batish, Sat Dev, Jones, Jeffrey, Liaquat, Khalida, Hoffman, Carol A., Jaremko, Malgorzata, Wang, Zhenyuan, Sun, Weimin, Buller‐Burckle, Arlene, Strom, Charles M., Keiles, Steven B., Higgins, Joseph J.
Publicado no Hum Mutat (2015)