Gabriel Haller, PhD

Pediatric Neurosurgery

Human and Statistical Genetics Program
Molecular Genetics and Genomics Program
Computational and Systems Biology Program
Neurosciences Program

Research Abstract:

My lab focuses on determining the genetic underpinnings of neurological/neurosurgical disorders including Chiari I malformation, syringomyelia, pediatric hydrocephalus and subarachnoid hemorrhage (SAH). We focus on the role of rare genetic variation in the development of human disease. Additionally, we use Deep Mutational Scanning (DMS) to understanding the functional impact of protein coding genetic variation on disease risk and utilize zebrafish to model the effects of associated genes on disease risk.

Selected Publications:

Li, C., Haller, G., and Weihl, C.C. (2022). Current and Future Approaches to Classify VUSs in LGMD-Related Genes. Genes (Basel) 13.

Sadler, B., Minard, C.G., Haller, G., Gurnett, C.A., O'Brien, S.H., Wheeler, A., Jain, S., Sharma, M., Zia, A., Kulkarni, R., et al. (2022). Whole-exome analysis of adolescents with low VWF and heavy menstrual bleeding identifies novel genetic associations. Blood Adv 6, 420-428.

Sadler, B., Wilborn, J., Antunes, L., Kuensting, T., Hale, A.T., Gannon, S.R., McCall, K., Cruchaga, C., Harms, M., Voisin, N., et al. (2021). Rare and de novo coding variants in chromodomain genes in Chiari I malformation. Am J Hum Genet 108, 100-114.

Sadler, B., Christopherson, P.A., Haller, G., Montgomery, R.R., and Di Paola, J. (2021). von Willebrand factor antigen levels are associated with burden of rare nonsynonymous variants in the VWF gene. Blood 137, 3277-3283.

Sadler, B., Kuensting, T., Strahle, J., Park, T.S., Smyth, M., Limbrick, D.D., Dobbs, M.B., Haller, G., and Gurnett, C.A. (2020). Prevalence and Impact of Underlying Diagnosis and Comorbidities on Chiari 1 Malformation. Pediatr Neurol 106, 32-37.

Sadler, B., Haller, G., Antunes, L., Nikolov, M., Amarillo, I., Coe, B., Dobbs, M.B., and Gurnett, C.A. (2020). Rare and de novo duplications containing SHOX in clubfoot. J Med Genet.

Sadler, B., Haller, G, L. Antunes, X. Bledsoe, J. Morcuende, P. Giampietro, C. Raggio, N. Miller, Y. Kidane, C. A. Wise, I. Amarillo, N. Walton, M. Seeley, D. Johnson, C. Jenkins, T. Jenkins, M. Oetjens, R. S. Tong, T. E. Druley, M. B. Dobbs and C. A. Gurnett. Distal chromosome 16p11.2 duplications containing SH2B1 in patients with scoliosis. J Med Genet (2019).

Haller, G., K. McCall, S. Jenkitkasemwong, B. Sadler, L. Antunes, M. Nikolov, J. Whittle, Z. Upshaw, J. Shin, E. Baschal, C. Cruchaga, M. Harms, C. Raggio, J. A. Morcuende, P. Giampietro, N. H. Miller, C. Wise, R. S. Gray, L. Solnica-Krezel, M. Knutson, M. B. Dobbs and C. A. Gurnett. A missense variant in SLC39A8 is associated with severe idiopathic scoliosis. Nature Communications 9(1): p. 4171 (2018).

Haller, G., H. Zabriskie, S. Spehar, T. Kuensting, X. Bledsoe, A. Syed, C. A. Gurnett and M. B. Dobbs (2017). Lack of joint hypermobility increases the risk of surgery in adolescent idiopathic scoliosis. J Pediatr Orthop B. 27, 152-158 (2017).

Haller G., Alvarado D., McCall M., Mitra R. D., Dobbs M. B., Gurnett, C. A. Massively parallel single nucleotide mutagenesis using reversibly-terminated inosine. Nature Methods. 13, 923-924 (2016).

Haller, G., Alvarado, D., McCall, K., Yang, P., Cruchaga, C., Harms, M., Goate, A., Willing, M., Morcuende, J. A., Baschal, E., Miller, N. H., Wise, C., Dobbs, M. B. & Gurnett, C. A. A polygenic burden of rare variants across extracellular matrix genes among individuals with adolescent idiopathic scoliosis. Human Molecular Genetics 25, 202-209 (2016).

Last Updated: 11/7/2022 11:31:44 AM

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