Select your language close

Prof Maria Bitner-Glindzicz

Honorary Consultant in Clinical Genetics and Professor of Clinical and Molecular Genetics


Professor Maria Bitner-Glindzicz is a clinical geneticist based at the University College London (UCL) Great Ormond Street Institute of Child Health and Great Ormond Street Hospital. She was promoted to Professor in 2012.  

Her research interest lies in the genetic causes of deafness in children and adults. 


  • Syndromic and non-syndromic deafness  
  • Usher Syndrome 
  • Antibiotic associated deafness 
  • Audiological Medicine 
  • Genetic Deafness  
  • Genetic susceptibility to aminoglycoside otoxity 

News & Publications

Le Quesne Stabej, P., James, C., Ocaka, L., Tekman, M., Grunewald, S., Clement, E., . . . Bitner-Glindzicz, M. 2017. An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes. Orphanet Journal of Rare Diseases.12(1) pp. 24. 

Carss, K. J., Arno, G., Erwood, M., Stephens, J., Sanchis-Juan, A., Hull, S., . . . Raymond, F. L. 2017. Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease. Am J Hum Genet. 100(1) pp. 75-90.

Moosajee, M., Yu-Wai-Man, P., Rouzier, C., Bitner-Glindzicz, M., & Bowman, R. 2016. Clinical utility gene card for: Wolfram syndrome. European Journal of Human Genetics. 49. 

Sommen, M., Schrauwen, I., Vandeweyer, G., Boeckx, N., Corneveaux, J. J., van den Ende, J., . . . Van Camp, G. 2016. DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System. Human mutation. 37(8) pp. 812-819. 

Majander, A., Bitner-Glindzicz, M., Chan, C. M., Duncan, H. J., Chinnery, P. F., Subash, M., . . . Yu-Wai-Man, P. 2016. Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations. Ophthalmology. 123(7) pp.1624-1626. 

Stabej, P. L. Q., Williams, H. J., James, C., Tekman, M., Stanescu, H. C., Kleta, R., . . . Conway, G. S. 2016. STAG3 truncating variant as the cause of primary ovarian insufficiency. EUROPEAN JOURNAL OF HUMAN GENETICS. 24(1) pp.135-138.

Griffin, B. H., Chitty, L. S., & Bitner-Glindzicz, M. 2016. The 100 000 Genomes Project: What it means for paediatrics. Arch Dis Child Educ Pract Ed.

Lenassi, E., Vincent, A., Li, Z., Saihan, Z., Coffey, A. J., Steele-Stallard, H. B., . . . Webster, A. R. 2015. A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants. EUROPEAN JOURNAL OF HUMAN GENETICS. 23(10) pp.1318-1327. 

Bitner-Glindzicz, M. 2015. Book review. Clinical medicine (London, England), 15(1), pp.105-? 

Lenassi, E., Robson, A. G., Luxon, L. M., Bitner-Glindzicz, M., & Webster, A. R. 2015. Clinical heterogeneity in a family with mutations in USH2A. JAMA Ophthalmol. 133 (3) pp.352-355.

Refer your child to Prof Maria Bitner-Glindzicz

Use the form below to refer your child for treatment. A member of our team will be in touch within 2 working days.

Your Details
Relationship to Patient:
Preferred Language:
Patient Details
What is the purpose of your referral?
This is the end of the basic form. Please note, in order to progress with a referral we require a medical report for the patient, therefore if you have this information available now, please click the 'provide more info' button. Alternatively press submit and one of our team will be in touch.
Doctor Details
Any other Doctors involved in Patients care
Funding Details
Who is paying for your treatment?
Medical Records

Mandatory fields

Prof Maria Bitner-Glindzicz Details

You can contact Prof Maria Bitner-Glindzicz through Great Ormond Street Hospital below.

Share Prof Maria Bitner-Glindzicz profile with someone:

Browse A-Z