Gabriel Haller, Ph.D.

Pediatric Neurosurgery

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


  • Genetic underpinnings of multiple neurological/neurosurgical disorders

Research Abstract:

My lab focuses on determining the genetic underpinnings of multiple neurological/neurosurgical disorders including Chiari I malformation, syringomyelia, pediatric hydrocephalus and subarachnoid hemorrhage (SAH). Additionally, we are focused on understanding the functional impact of all potential protein coding genetic variation in neurological disease genes to better predict which patients are at risk for developing these disorders before they present in the clinic using genetic information alone.

Selected Publications:

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: 8/14/2019 1:57:03 PM

Back To Top

Follow us: