Author details

Full Name

Maria Bitner-Glindzicz

Affiliation

UCL Great Ormond Street Institute of Child Health Library

ORCID

Career Start Year

1990

Papers

125

H Index

Expertise

CM4AI Collaborator

PMID	Paper Title	Journal Title	Published Year
36564163	Cumulative risk factors contributing to hearing loss in preterm infants.	Arch Dis Child Fetal Neonatal Ed	2023
37642150	Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease.	EMBO Mol Med	2023
35132964	The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention.	JCI Insight	2022
35469785	WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression.	Am J Ophthalmol	2022
36240775	Molecular pathology of Usher 1B patient-derived retinal organoids at single cell resolution.	Stem Cell Reports	2022
34758253	100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.	N Engl J Med	2021
32792680	Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations.	Sci Rep	2020
31998945	Clinical and preclinical therapeutic outcome metrics for USH2A-related disease.	Hum Mol Genet	2020
30653986	The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.	Ophthalmology	2019
31600780	Functional assessment of variants associated with Wolfram syndrome.	Hum Mol Genet	2019
31336982	Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases.	Genes (Basel)	2019
31504499	Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans.	Hum Mol Genet	2019
31123110	Germline selection shapes human mitochondrial DNA diversity.	Science	2019
30270361	Opening the "black box" of informed consent appointments for genome sequencing: a multisite observational study.	Genet Med	2019
29305691	The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.	Hum Genet	2018
29861108	De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.	Am J Hum Genet	2018
30049826	Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children.	J Med Genet	2018
29635513	SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20.	Hum Mol Genet	2018
29435658	Correction to: The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management.	Hum Genet	2018
27940446	The 100â¿¿000 Genomes Project: What it means for paediatrics.	Arch Dis Child Educ Pract Ed	2017
28173822	An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes.	Orphanet J Rare Dis	2017
28079113	Congenital hearing loss.	Nat Rev Dis Primers	2017
28041643	Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease.	Am J Hum Genet	2017
26059840	STAG3 truncating variant as the cause of primary ovarian insufficiency.	Eur J Hum Genet	2016
27222289	Clinical utility gene card for: Wolfram syndrome.	Eur J Hum Genet	2016
27068579	DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System.	Hum Mutat	2016
26875006	Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations.	Ophthalmology	2016
25324569	Genetic investigations in childhood deafness.	Arch Dis Child	2015
26187953	Republished: Genetic investigations in childhood deafness.	Postgrad Med J	2015
26022995	FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.	Hum Mol Genet	2015
25649381	A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants.	Eur J Hum Genet	2015
25504734	Functional analysis of FOXE3 mutations causing dominant and recessive ocular anterior segment disease.	Hum Mutat	2015
25521520	Clinical heterogeneity in a family with mutations in USH2A.	JAMA Ophthalmol	2015
25394566	Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.	Eur J Endocrinol	2015
25305075	Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss.	Hum Mol Genet	2015
24199935	Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.	Ophthalmology	2014
25439728	Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.	Am J Hum Genet	2014
25125236	Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism.	J Med Genet	2014
24607488	The effect of the common c.2299delG mutation in USH2A on RNA splicing.	Exp Eye Res	2014
24593698	Gentamicin, genetic variation and deafness in preterm children.	BMC Pediatr	2014
24412933	Mutation of SALL2 causes recessive ocular coloboma in humans and mice.	Hum Mol Genet	2014
23131088	The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss.	Int J Audiol	2013
23965030	Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in Pendred syndrome/enlarged vestibular aqueducts.	BMC Med Genet	2013
23924366	Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing.	Orphanet J Rare Dis	2013
23695287	EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus.	Eur J Hum Genet	2013
23208854	A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.	Am J Med Genet A	2013
23315542	Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.	J Med Genet	2013
22135276	Comprehensive sequence analysis of nine Usher syndrome genes in the UK National Collaborative Usher Study.	J Med Genet	2012
22855627	Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study.	BMJ Open	2012
22223843	Hearing in 44-45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study.	BMJ Open	2012

1 - 50 of 125

Lijia Huang

Children's Hospital of Eastern Ontario (CHEO)

Career Start Year 2008

Number of shared co-authors 11

Rasim O Rosti

University of Virginia

Career Start Year 2008

Number of shared co-authors 5

Ahmet Okay Caglayan

Yale School of Medicine

Career Start Year 2007

Number of shared co-authors 1

Bryn D Webb

Icahn School of Medicine at Mount Sinai, University of Wisconsin-Madison

Career Start Year 2006

Number of shared co-authors 6

Tabib Dabir

Belfast City Hospital

Career Start Year 2006

Number of shared co-authors 19

Matthew Pastore

Nationwide Children's Hospital, The Ohio State University College of Medicine

Career Start Year 2003

Number of shared co-authors 7

Michael A Simpson

King's College London

Career Start Year 2002

Number of shared co-authors 32

Francesca Mari

Institute de Pathologie et de Genetique ASBL

Career Start Year 2000

Number of shared co-authors 13

Tony Roscioli

Prince of Wales Hospital

Career Start Year 2000

Number of shared co-authors 22

Jennifer J Johnston

Center for Precision Health Research, National Human Genome Research Institute

Career Start Year 1997

Number of shared co-authors 12

Ian D Krantz

Children's Hospital of Philadelphia

Career Start Year 1996

Number of shared co-authors 21

Ariana Kariminejad

Clinical Genetics Deaprtment

Career Start Year 1996

Number of shared co-authors 20

Kym M Boycott

Children's Hospital of Eastern Ontario

Career Start Year 1996

Number of shared co-authors 39

Franco Stanzial

Genetic Counseling Service - Regional Hospital of Bolzano

Career Start Year 1993

Number of shared co-authors 7

Anne Slavotinek

Cincinnati Children's Hospital Medical Center

Career Start Year 1993

Number of shared co-authors 25

Pablo Lapunzina

Institute of Medical and Molecular Genetics

Career Start Year 1993

Number of shared co-authors 16

H??l??ne Dollfus

Institut de Genetique Medicale d'Alsace, Hopitaux Universitaires de Strasbourg

Career Start Year 1992

Number of shared co-authors 31

Theresa A Grebe

Phoenix Children's Hospital

Career Start Year 1992

Number of shared co-authors 7

Kenjiro Kosaki

Center for Medical Genetics, Keio University School of Medicine

Career Start Year 1991

Number of shared co-authors 17

Graeme C M Black

Manchester University Hospitals NHS Foundation Trust, St Mary's Hospital

Career Start Year 1991

Number of shared co-authors 49

Suzanne M Leal

Center for Statistical Genetics, Columbia University Medical Center

Career Start Year 1990

Number of shared co-authors 18

Felicity Collins

Department of Medical Genomics/Clinical Genetics, Royal Prince Alfred Hospital

Career Start Year 1990

Number of shared co-authors 12

Lihadh Al-Gazali

College of Medicine and Health Sciences, United Arab Emirates University

Career Start Year 1988

Number of shared co-authors 22

Leslie G Biesecker

National Human Genome Research Institute, National Institutes of Health

Career Start Year 1987

Number of shared co-authors 26

Alessandra Renieri

University of Siena

Career Start Year 1984

Number of shared co-authors 19

Xavier Estivill

Sidra Medical Center

Career Start Year 1983

Number of shared co-authors 22

Thomas Meitinger

Technical University of Munich, Institute of Human Genetics

Career Start Year 1982

Number of shared co-authors 36

Denise Horn

Institute of Medical and Human Genetics, Charite - Universitatsmedizin Berlin

Career Start Year 1981

Number of shared co-authors 23

James R Lupski

Baylor College of Medicine

Career Start Year 1981

Number of shared co-authors 40

Asl??han Tolun

Istanbul Technical University

Career Start Year 1974

Number of shared co-authors 5

row(s) 1 - 30 of 30

Shamima Rahman

UCL Great Ormond Street Institute of Child Health

Co-authored papers 17

Andrew R Webster

Institute of Ophthalmology, University College London

Co-authored papers 15

Alistair T Pagnamenta

NIHR Biomedical Research Centre, University of Oxford

Co-authored papers 7

Anthony T Moore

UCL Institute of Ophthalmology, University College London

Co-authored papers 7

Jane A Hurst

Great Ormond Street Hospital NHS Foundation Trust

Co-authored papers 5

Hywel J Williams

Cardiff University

Co-authored papers 5

Philip L Beales

UCL Great Ormond Street Institute of Child Health, University College London

Co-authored papers 4

Andrew O M Wilkie

NIHR Oxford Biomedical Research Centre

Co-authored papers 4

Michel Michaelides

Institute of Ophthalmology, University College London

Co-authored papers 4

Patrick Yu-Wai-Man

University of Cambridge

Co-authored papers 4

Patrick F Chinnery

School of Clinical Medicine, University of Cambridge

Co-authored papers 4

Christopher J Penkett

National Health Service Blood and Transplant, University of Cambridge

Co-authored papers 3

Willem H Ouwehand

University of Cambridge

Co-authored papers 3

Henry Houlden

Institute of Neurology, University College London (UCL)

Co-authored papers 3

Adrian S Woolf

The University of Manchester

Co-authored papers 3

Francesco Lescai

Co-authored papers 3

Jill Clayton-Smith

Institute of Human Development, University of Manchester

Co-authored papers 3

Kathleen Stirrups

University of Cambridge

Co-authored papers 3

Richard H Scott

Great Ormond Street Hospital

Co-authored papers 3

Gavin Arno

Institute of Ophthalmology, University College London

Co-authored papers 3

Charu Deshpande

Guy's Hospital

Co-authored papers 3

Dragana Josifova

Guy's and St Thomas' Hospital

Co-authored papers 3

Han G Brunner

Maastricht University Medical Centre

Co-authored papers 3

Frances Lucy Raymond

University of Cambridge, UK Cambridge University Hospitals NHS Foundation Trust

Co-authored papers 3

Lyn S Chitty

UCL Institute of Child Health and Great Ormond Street NHS Foundation Trust

Co-authored papers 3

Anna Middleton

Kavli Centre for Ethics, University of Cambridge

Co-authored papers 2

Valentina Cipriani

William Harvey Research Institute, Queen Mary University of London

Co-authored papers 2

Stephanie Grunewald

Great Ormond Street Hospital for Children NHS Trust

Co-authored papers 2

Eleanor Dewhurst

University of Cambridge

Co-authored papers 2

Christoffer Nell??ker

Big Data Institute, University of Oxford

Co-authored papers 2

1 - 30

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