Bianca E. Russell, MD

Bianca E. Russell, MD

Clinical Genetics
Accepting new patients
Primary Location
Pediatrics Genetics
300 Medical Plaza
Suite 3300
Los Angeles, California 90095


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.




Medical Board Certifications

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


Cincinnati Children's Hospital Medical Center, 2018


UC Irvine College of Medicine, MD, 2013


Hospital Affiliations

Ronald Reagan UCLA Medical Center

UCLA Santa Monica Medical Center



  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


  • Top Doctors, Los Angeles Magazine, 2022
  • Recipient of ACMG Foundation David L. Rimoin Inspiring Excellence Award (2016)
  • Gold Humanism Honors Society (2013)