Li, C, Wilborn, j, … Weihl, C.C., haller, G. Comprehensive functional characterization of SGCB coding variants predicts pathogenicity in limb-girdle muscular dystrophy type R4/2E. Journal of Clinical investigation (2023). (PDF)
li, C, Weihl, C.C., Haller, G. Current and Future Approaches to Classify VUSs in LGMD-Related Genes. Genes (2022). (PDF)
Sadler, B, Wilborn, J., … Gurnett, C, limbrick, D, Haller, G. Rare and de novo coding variants in chromodomain genes in Chiari I malformation. American Journal of Human Genetics (2021). (PDF)
Haller G., Sadler, B., et al. Obex position is associated with syringomyelia and use of posterior fossa decompression among patients with Chiari I malformation. Journal of Neurosurgery: Pediatrics (2020). (PDF)
Sadler, B, … Haller, G, Gurnett, C. Prevalence and Impact of Underlying Diagnosis and Comorbidities on Chiari 1 Malformation. Pediatric Neurology (2020). (PDF)
Haller G, McCall, K, et al. A missense variant in SLC39A8 is associated with severe idiopathic scoliosis. Nature Communications (2018). (PDF)
Haller, G., Alvarado, D., McCall, K., Mitra, R., Dobbs, M., Gurnett, C. (2016) Massively parallel single nucleotide mutagenesis using reversibly-terminated inosine. Nature Methods doi:10.1038/nmeth.4015. (PDF)
Haller, G., Alvarado, D., McCall, K., Yang, P., Cruchaga, C., Harms, M., Goate, A., Willing, M., Morcuende, J.A., Baschal, E. et al. (2016) A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis. Human molecular genetics, 25, 202-209. (PDF)
Haller, G., Li, P., Esch, C., Hsu, S., Goate, A. M., Steinbach, J. H., Functional characterization improves associations between rare non-synonymous variants in CHRNB4 and smoking behavior. PloS one 2014,9 (5), e96753 (PDF)
Haller, G., Kapoor, M., … Goate, A., Rare missense variants in CHRNB3 and CHRNA3 are associated with risk of alcohol and cocaine dependence. Human molecular genetics 2014,23 (3), 810-9 (PDF)
Haller, G., Druley, T., … Goate, A. M., Rare missense variants in CHRNB4 are associated with reduced risk of nicotine dependence. Human molecular genetics 2012,21 (3), 647-55 (PDF)
Haller, G., Torgerson, D. G., Ober, C., Thompson, E. E., Sequencing the IL4 locus in African Americans implicates rare noncoding variants in asthma susceptibility. The Journal of allergy and clinical immunology 2009,124 (6), 1204-9 e9 (PDF)