Maria Bitner‐Glindzicz
Great Ormond Street Hospital(GB)Institute of Child Health(IN)University College London(GB)
Publications by Year
Research Areas
Hearing, Cochlea, Tinnitus, Genetics, Genomics and Rare Diseases, Retinal Development and Disorders, Health, Medicine and Society, Hermeneutics and Narrative Identity
Most-Cited Works
- → A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family(1997)678 cited
- → Whole-genome sequencing of patients with rare diseases in a national health system(2020)568 cited
- → Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23(2001)552 cited
- → GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study(2005)551 cited
- → Congenital hearing loss(2017)521 cited
- → Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease(2016)478 cited