World's Best Scientists 2026 revealed!
Maria Bitner-Glindzicz

Maria Bitner-Glindzicz

D-Index & Metrics

Biology and Biochemistry

D-Index
55
Citations
12769
World Ranking
14917
National Ranking
1178

Overview

Maria Bitner-Glindzicz was affiliated with University College London in the United Kingdom. Their research spanned multiple fields including Biochemistry, Genetics and Molecular Biology, Medicine, and Neuroscience. The scientist focused on subfields such as Molecular Biology, Genetics, Pulmonary and Respiratory Medicine, Sensory Systems, and Immunology.

Throughout their career, Maria Bitner-Glindzicz contributed extensively to topics including Hearing, Cochlea, Tinnitus, Genetics; Retinal Development and Disorders; Genomics and Rare Diseases; Immunodeficiency and Autoimmune Disorders; Cystic Fibrosis Research Advances; RNA regulation and disease; and Ocular Disorders and Treatments.

Recent publications provide insight into the breadth of their research. Notable papers include:

  • Whole-genome sequencing of patients with rare diseases in a national health system, 2020, Nature
  • Whole-genome sequencing of a sporadic primary immunodeficiency cohort, 2020, Nature
  • Bayesian Inference Associates Rare KDR Variants With Specific Phenotypes in Pulmonary Arterial Hypertension, 2020, Circulation Genomic and Precision Medicine
  • Clinical and preclinical therapeutic outcome metrics for USH2A-related disease, 2020, Human Molecular Genetics
  • Molecular pathology of Usher 1B patient-derived retinal organoids at single cell resolution, 2022, Stem Cell Reports

Frequent collaborators included Helen Baxendale, Oliver S. Burren, Gavin Arno, Stephen Abbs, and Julian Adlard. Collaboration patterns reflected interdisciplinary research efforts and multiple publications with each of these coauthors.

The most common venues for publishing their work were:

  • Nature
  • Circulation Genomic and Precision Medicine
  • Human Molecular Genetics
  • Stem Cell Reports
  • American Journal of Ophthalmology

Best Publications

  • A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family

    Abdelhak S;Kalatzis;Heilig R;Compain S

  • GJB2 mutations and degree of hearing loss: a multicenter study.

    Rikkert L. Snoeckx;Patrick L M Huygen;Delphine Feldmann;Sandrine Marlin

  • Usher Syndrome 1D and Nonsyndromic Autosomal Recessive Deafness DFNB12 Are Caused by Allelic Mutations of the Novel Cadherin-Like Gene CDH23

    Julie M. Bork;Linda M. Peters;Saima Riazuddin;Saima Riazuddin;Steve L. Bernstein

  • Association between X-linked mixed deafness and mutations in the POU domain gene POU3F4

    Y. J. M. De Kok;S. M. Van Der Maarel;M. Bitner-Glindzicz;I. Huber

  • Congenital hearing loss.

    Anna M.H. Korver;Richard J.H. Smith;Guy Van Camp;Mark R. Schleiss

  • Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease

    K J Carss;G Arno;M Erwood;J Stephens

  • IsK and KvLQT1: Mutation in Either of the Two Subunits of the Slow Component of the Delayed Rectifier Potassium Channel Can Cause Jervell and Lange-Nielsen Syndrome

    Jessica Tyson;Lisbeth Tranebjærg;Sue Bellman;Christopher Wren

  • Whole-genome sequencing of patients with rare diseases in a national health system

    Ernest Turro;William J Astle;Karyn Megy;Stefan Graf

  • Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

    Daniel Kelberman;Karine Rizzoti;Ariel Avilion;Maria Bitner-Glindzicz

  • Deficiency of the ADP-forming succinyl-CoA synthase activity is associated with encephalomyopathy and mitochondrial DNA depletion.

    Orly Elpeleg;Orly Elpeleg;Chaya Miller;Eli Hershkovitz;Maria Bitner-Glindzicz

  • A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

    Maria Bitner-Glindzicz;Keith J. Lindley;Paul Rutland;Diana Blaydon

  • Histone Lysine Methylases and Demethylases in the Landscape of Human Developmental Disorders

    Víctor Faundes;Víctor Faundes;William G. Newman;Laura Bernardini;Natalie Canham

  • 100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.

    Damian Smedley;Katherine R. Smith;Antonio Martin

  • Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome

    Caroline Rooryck;Anna Diaz-Font;Daniel P S Osborn;Elyes Chabchoub

  • A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q10 Deficiency: A Potentially Treatable Form of Mitochondrial Disease

    Andrew J. Duncan;Maria Bitner-Glindzicz;Brigitte Meunier;Harry Costello

  • Whole-genome sequencing of a sporadic primary immunodeficiency cohort

    Thaventhiran Jed.;H Lango Allen;O S Burren;W Rae

  • Germline selection shapes human mitochondrial DNA diversity.

    W Wei;S Tuna;M J Keogh;K R Smith

  • Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study

    Polona Le Quesne Stabej;Zubin Saihan;Nell Rangesh;Heather B Steele-Stallard

  • Identification of a Hot Spot for Microdeletions in Patients with X-linked Deafness Type 3 (DFN3) 900 kb Proximal to the DFN3 gene POU3F4

    Y. J. M. De Kok;E. R. Vossenaar;C. W. R. J. Cremers;N. Dahl

  • Prevalence of mitochondrial 1555A→G mutation in European children.

    Maria Bitner-Glindzicz;Marcus Pembrey;Andrew Duncan;Jon Heron

Frequent Co-Authors

Andrew R. Webster
Andrew R. Webster University College London
Shamima Rahman
Shamima Rahman University College London
Anthony T. Moore
Anthony T. Moore University of California, San Francisco
Dagmar Wieczorek
Dagmar Wieczorek Heinrich Heine University Düsseldorf
Karen P. Steel
Karen P. Steel King's College London
Hywel Williams
Hywel Williams University College London
Philip Stanier
Philip Stanier University College London
Diana Baralle
Diana Baralle University of Southampton
Han G. Brunner
Han G. Brunner Radboud University
Andrew O.M. Wilkie
Andrew O.M. Wilkie University of Oxford

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