Bianca E. Russell, MD

Bianca E. Russell, MD

Clinical Genetics
Primary Location
San Luis Obispo Primary & Specialty Care
892 Aerovista Place
Suite 210
San Luis Obispo, California 93401
Phone
Fax
805-549-8252

About

Dr. Russell is an Assistant Clinical Professor in the Department of Pediatrics and Division of Genetics. She obtained her medical degree from the University of California, Irvine and completed her combined pediatrics and human genetics residency and metabolic training at the Cincinnati Children's Hospital.

Dr. Russell sees general genetics, cancer, and metabolic patients in Westwood and San Luis Obispo in-person and through telemedicine.

Her clinical interests include state newborn screening, metabolic disorders, chromatin modifying disorders (Chromatinopathies), hearing loss, renal disease, epilepsy, congenital malformations, and cancer predisposition syndromes.

She also has a specialized Chromatinopathies Clinic and does clinical research on disorders caused by genetic changes in the ASXL gene family (Bohring-Opitz Syndrome, Shashi-Pena Syndrome, Bainbridge-Ropers Syndrome). She maintains a registry and biobank for these conditions and is considered an expert on Bohring-Opitz Syndrome.

She is also the Associate Director for the Medical Genetics Residency Program.

Education

Medical Board Certifications

Medical Genetics and Genomics, American Board of Medical Genetics, 2019
Pediatrics, American Board of Pediatrics, 2017

Residency

Cincinnati Children's Hospital Medical Center, 2018

Degree

UC Irvine College of Medicine, MD, 2013

Hospital Affiliations

Research

Publications

  1. Chenbhanich J., Hu, Y., Hetts, S., Cooke, D., Dowd, C., Devine, P., UCLA Clinical Genomics Center, Russell, BE., Kang, SHL., Chang, VY., Abla, AA., Cornett, P., Yeh, I., Lee, H., Martinez-Agosto, JA., Frieden, IJ., Shieh, JT. Segmental overgrowth and aneurysms due to mosaic PDGFRB p.(Tyr562Cys). Am J Med Genet Part A 2021 May;185(5): 1430-1436. PMID: 33683022
  2. Efthymiou, S., Dutra-Clarke, M., Maroofian, R., Kaiyrzhanov, R., Scala, M., Reza Alvi, J., Sultan, T., Christoforou, M., Nguyen, T., Mankad, K.,Vona, B., Rad, A., Striano, P., Salpietro, V., Sacoto, M., Zaki, M., Gleeson, JG., Campeau, PM., Russell, BE., Houlden, H. Expanding the phenotype of PIGS-associated early onset epileptic developmental encephalopathy. Epilepsia 2021 Feb;62(2):e35-e41. PMID: 33410539
  3. Ziegler, M., Russell, BE., Eberhardt, K., Geisel, G., D'Amore, A., Sahin, M., Kornblum, HI., Ebrahimi-Fakhari, D. Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7. Neurol Genet 2020 Dec;7(1):e544. PMID: 33553621
  4. Delaney, A., Volochayev, R., Meader, B., Lee, J., Almpani, K., Noukelak, G. Y., Henkind, J., Chalmers, L., Law, J. R., Williamson, K. A., Jacobsen, C. M., Buitrago, T. P., Perez, O., Cho, C. H., Kaindl, A., Rauch, A., Steindl, K., Garcia, J. E., Russell, BE., Prasad, R., … Shaw, N. D. Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose. J Clin Endocrinol Metab 2020 May; 105(5). PMID: 32034419
  5. Russell, BE., Rigueur, D., Sund, K., Basil, J., Hufnagel, RB., Weaver, KN., Prows, C., Hopkin, R., Saal, HM., Lyons, K., Dauber, A. Homozygous Missense Variant in BMPR1A Resulting in BMPR Signaling Disruption and Syndromic Features. Mol Genet Genomic Med 2019 Nov; 7(11). PMID:31493347
  6. Russell, BE., Whaley, KG., Labilloy, A., Lombardo, RC., Bove, K., Prada, C., Hopkin, RJ., Leslie, ND., Assouline, Z., Barcia, G., Bouchereau, J., Chomton, M., Debray, D., Dorboz, I., Durand, P., Guettier-Bouttier, C., Habes, D., Jardel, C., Labarthe, F., Lévy, J., Lombès, A., Mehler Jacob, C., Melki, J., Menvielle, L., Munnich, A., Pichard, S., Rio, M., Rötig, A., Sissaoui, S., Slama, A., Miethke, A., Schiff, M. Expanding and Underscoring the Hepato-Encephalopathic Phenotype of QIL1/MIC13. Hepatology 2019 Sep; 70(3). PMID: 30912852
  7. Russell B. Bohring-Opitz Syndrome. In: Face2Gene Library: London Medical Database. May 7, 2018.
  8. Russell, B., Tan, WH., Graham, JM Jr. Bohring-Opitz Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2018. 2018, Feb 15. PMID: 29446906
  9. Russell, B., Johnson, JJ., Biesecker, LG., Kramer, N., Pickart, A., Rhead, W., Tan, WH., Brownstein, CA., Clarkson, LK., Dobson, A., Rosenberg, AZ., Vergano, SA., Helm, BM., Harrison, RE., Graham, JM. Clinical Management of Patients with ASXL1 Mutations and Bohring-Opitz Syndrome, Emphasizing the Need for Wilms Tumor Surveillance. Am J Med Genet Part A. 2015, Sep; 167A(9):2122-31. PMID: 25921057
  10. Russell, B., Graham, JM. Expanding our knowledge of conditions associated with the ASXL gene family. Genome Med. 2013, Feb 21;5(2):16. PMID: 23672984

Awards

  • Recipient of ACMG Foundation David L. Rimoin Inspiring Excellence Award (2016)
  • Gold Humanism Honors Society (2013)