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Prof Maria Bitner-Glindzicz

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

Overview

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. 

Credentials

  • 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.

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