Recent Publications

Karbassi, I., Maston, G. A., Love, A., DiVincenzo, C., Braastad, C. D., Elzinga, C. D., Bright, A. R., Previte, D., Zhang, K., Rowland, C. M., McCarthy, M., Lapierre, J. L., Dubois, F., Medeiros, K. A., Batish, S. D., Jones, J., Liaquat, K., Hoffman, C. A., Jaremko, M., Wang, Z., Sun, W., Buller-Burckle, A., Strom, C. M., Keiles, S. B. and Higgins, J. J. (2015), A Standardized DNA Variant Scoring System for Pathogenicity Assessments in Mendelian Disorders. Hum. Mutat.. doi: 10.1002/humu.22918

Vasale J, Boyar F, Jocson M, Sulcova V, Chan P, Liaquat K, Hoffman C, Meservey M, Chang I, Tsao D, Hensley K, Liu Y, Owen R, Braastad C, Sun W, Walrafen P, Komatsu J, Wang J, Bensimon A, Anguiano A, Jaremko M, Wang Z, Suer F, Batish S, Strom C, Higgins J. Molecular combing compared to Southern blot for measuring D4Z4 contractions in FSHD.  Neuromuscular Disorders 2015; http://dx.doi.org/doi:10.1016/j.nmd.2015.08.008.

Higgins JJ.  Helping Patients Navigate Barriers To Diagnostic Testing For Neurological Disorders. Practical Neurology 2015;March:10-15.Online

Ekins S, Litterman N, Arnold R, Burgess R, Freundlich J, Gray S, Higgins J, Langley B, Willis D, Notterpek L, Pleasure D, Sereda M, Moore A.  A brief review of recent Charcot-Marie-Tooth research and priorities.  F1000Research 2015;4:53. Online

DiVincenzo C, Elzinga CD, Medeiros AC, Karbassi I, Jones JR, Evans MC, Braastad CD, Bishop CM, Jaremko M, Wang Z, Liaquat K, Hoffman CA, York M, Batish SD, Lupski JR, Higgins JJ. The allelic spectrum of Charcot–Marie–Tooth disease in over 17,000 individuals with neuropathy. Molecular Genetics & Genomic Medicine 2014;2:522-529. PMID: 25614874

Liu P, Violet G, Zhang F, Drory VE, Ben-Shachar S, Roney E, Medeiros AC, Moore RJ, DiVincenzo C, Burnette WB, Higgins JJ, Li J, Urtreger AO, Lupski JR. Mechanism, prevalence, and more severe neuropathy phenotype of the Charcot-Marie-Tooth type 1A triplication. Am J Hum Genet. 2014;94:462-469. PMID: 24530202

Moeller S, Lau NM, Green PHR, Hellberg D, Higgins JJ, Rajadhyaksha AM, Alaedini A.  Lack of Association Between Autism and Anti-GM1 Ganglioside Autoantibody. Neurology 2013;81:1640-1641. PMID: 24068789

Lau NM, Green PHR, Taylor AK, Helberg D, Ajamian M, Tan CZ, Kosofsky B, Higgins JJ, Rajadhyaksha A, Alaedini A. Markers of Celiac Disease and Gluten Sensitivity in Children with Autism. PLoS One 2013;8:e66155. PMID: 23823064

Higgins JJ.  Opinion: The Present and Future of Neurogenomics. The Scientist 2013; On-line

Higgins JJ.  Dementia diagnostics: preparing for a pending healthcare epidemic.  MLO Med Lab Obs. 2013;45:52-53. PMID: 24180077