Relevant Publications

Helbig I, Riggs ER, Barry CA, Klein KM, Dyment D, Thaxton C, Sadikovic B, Sands TT, Wagnon JL, Liaquat K, Cilio MR, Mirzaa G, Park K, Axeen E, Butler E, Bardakjian TM, Striano P, Poduri A, Siegert RK, Grant AR, Helbig KL, Mefford HC.Helbig I, et al. The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteria. Hum Mutat. 2018 Nov;39(11):1476-1484. doi: 10.1002/humu.23632.Hum Mutat. 2018.PMID: 30311377

Majidi S, Fouts A, Pyle L, Chambers C, Armstrong T, Wang Z, Batish SD, Klingensmith G, Steck AK.Majidi S, et al.Diabetes Technol Ther. 2018 Feb;20(2):106-112. doi: 10.1089/dia.2017. Can Biomarkers Help Target Maturity-Onset Diabetes of the Young Genetic Testing in Antibody-Negative Diabetes? 0317. Diabetes Technol Ther. 2018.PMID: 29355436 Free PMC article.

Strom CM, Anderson B, Tsao D, Zhang K, Liu Y, Livingston K, Elzinga C, Evans M, Nguyen Q, Wolfson D, Rowland C, Kolacki P, Maxwell M, Wang JC, Rabin D, Catanese J, Owen R, Braastad C, Sun W.Strom CM, et al. Improving the Positive Predictive Value of Non-Invasive Prenatal Screening (NIPS). PLoS One. 2017 Mar 1;12(3):e0167130. doi: 10.1371/journal.pone.0167130. eCollection 2017.PLoS One. 2017.PMID: 28248967 Free PMC article.

Chambers C, Fouts A, Dong F, Colclough K, Wang Z, Batish SD, Jaremko M, Ellard S, Hattersley AT, Klingensmith G, Steck AK.Chambers C, et al. Characteristics of maturity onset diabetes of the young in a large diabetes center. Pediatr Diabetes. 2016 Aug;17(5):360-7. doi: 10.1111/pedi.12289. Epub 2015 Jun 8.Pediatr Diabetes. 2016.PMID: 26059258 Free PMC article.

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.

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