Maria Bitner‐Glindzicz

Author

Also Known As

A. Paul Bevan, Angie Brady, Anna C Thomas, Anne-Françoise Roux, Bitner-Glindzicz, M, Edward Blair, Gavin Arno, Helen L Storr, John R. Bradley, John Taylor

198

Publications

12.7K

Citations

H-Index

135

Concepts

All Affiliations

University College London Great Ormond Street Hospital Great Ormond Street Hospital for Children NHS Foundation Trust Moorfields Eye Hospital National Hospital for Neurology and Neurosurgery

About

Maria Bitner‐Glindzicz is an author at University College London specializing in medicine, genetics, and molecular genetics.

Top Concepts

#	Concept	H-Index	Publications	Citations
1	Medicine	31	44	5.3K
2	Health Sciences	3	3	98
3	Arts	2	2	582
4	Natural Sciences	2	2	341
5	Engineering	1	1	105

Maria Bitner‐Glindzicz

Publications

8.7K

Citations

H-Index

Page 1

	Year	Citations
A human homologue of the Drosophila eyes absent gene underlies Branchio-Oto-Renal (BOR) syndrome and identifies a novel gene family Sonia Abdelhak, Vasiliki Kalatzis, Roland Heilig, Nature Genetics BiologyDevelopmental BiologyNovel Gene FamilyGenetic DisorderDevelopmental Genetics	1997	678
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 Peters, Saima Riazuddin, The American Journal of Human Genetics Developmental BiologyAllelic MutationsMendelian DisorderGenetic DisorderGenetics	2001	551
GJB2 Mutations and Degree of Hearing Loss: A Multicenter Study Rikkert L. Snoeckx, P.L.M. Huygen, Delphine Feldmann, The American Journal of Human Genetics Genetic DisorderGeneticsAudiologyGenetic EpidemiologyGjb2 Mutations	2005	551
Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease Keren Carss, Gavin Arno, Marie Erwood, The American Journal of Human Genetics Whole-genome SequencingAllelic VariantGenetic DisorderMedicineGenetics	2016	463
Association Between X-Linked Mixed Deafness and Mutations in the POU Domain Gene <i>POU3F4</i> Yvette J.M. de Kok, Silvère M. van der Maarel, Maria Bitner‐Glindzicz, Science	1995	446
The Jervell and Lange-Nielsen Syndrome Peter J. Schwartz, Carla Spazzolini, Lia Crotti, Circulation	2006	392
A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene Maria Bitner‐Glindzicz, Keith Lindley, Paul Rutland, Nature Genetics Infantile HyperinsulinismMendelian DisorderGenetic DisorderGeneticsClinical Genetics	2000	324
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 Jess Tyson, S. Bellman, Christopher Wren, Human Molecular Genetics	1997	312
Deficiency of the ADP-Forming Succinyl-CoA Synthase Activity Is Associated with Encephalomyopathy and Mitochondrial DNA Depletion Orly Elpeleg, Chaya Miller, Eli Hershkovitz, The American Journal of Human Genetics Cellular EnzymologyMitochondrial FunctionBiochemistryNatural SciencesGenetics	2005	311
Mutations in lectin complement pathway genes COLEC11 and MASP1 cause 3MC syndrome Caroline Rooryck, Anna Dı́az-Font, Daniel P. S. Osborn, Nature Genetics Complement SystemGenetic DisorderGeneticsPathogenesisImmunology	2011	256

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