M. Bitner-Glindzicz

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Hereditary deafness and phenotyping in humans.

M. Bitner-Glindzicz, 2002, British medical bulletin.

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.

M. Pembrey, M. Bitner-Glindzicz, S. Bhattacharya, 1997, Human molecular genetics.

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

Dorothy A. Thompson, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, American journal of human genetics.

Mesomelia-synostoses syndrome results from deletion of SULF1 and SLCO5A1 genes at 8q13.

R. Redon, M. Bitner-Glindzicz, G. Mortier, 2010, American journal of human genetics.

Lamination of the Outer Plexiform Layer in Optic Atrophy Caused by Dominant WFS1 Mutations.

P. Keane, M. Bitner-Glindzicz, P. Chinnery, 2016, Ophthalmology.

The Jervell and Lange-Nielsen Syndrome: Natural History, Molecular Basis, and Clinical Outcome

Lauri Toivonen, Peter J. Schwartz, Minoru Horie, 2006, Archives des maladies du coeur et des vaisseaux.

Comprehensive Cancer-Predisposition Gene Testing in an Adult Multiple Primary Tumor Series Shows a Broad Range of Deleterious Variants and Atypical Tumor Phenotypes

William J. Astle, Dorothy A. Thompson, Sri V. V. Deevi, 2018, American journal of human genetics.

Aetiological investigations of hearing loss in childhood: a review.

M. Bitner-Glindzicz, T. Sirimanna, D. Bamiou, 2000, Clinical otolaryngology and allied sciences.

Loss-of-function mutations in the PRPS1 gene cause a type of nonsyndromic X-linked sensorineural deafness, DFN2.

J. Seidman, M. Bitner-Glindzicz, Xiangyin Kong, 2010, American journal of human genetics.

Preferences for communication in clinic from deaf people: a cross-sectional study.

M. Bitner-Glindzicz, A. Clarke, D. Stephens, 2010, Journal of evaluation in clinical practice.

Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination

M. Bitner-Glindzicz, K. Woodward, R. Surtees, 2006, Neurogenetics.

The Jervell and Lange-Nielsen syndrome: natural history, molecular basis, and clinical outcome.

M. Bitner-Glindzicz, P. Schwartz, E. Schulze-Bahr, 2006, Circulation.

Assessment of the genetic causes of recessive childhood non‐syndromic deafness in the UK – implications for genetic testing

M. Bitner-Glindzicz, G. Taylor, E. Telford, 2005, Clinical genetics.

Germline selection shapes human mitochondrial DNA diversity

David L. Bennett, Kenneth G. C. Smith, Katherine R. Smith, 2019, Science.

A spectrum of functional effects for disease causing mutations in the Jervell and Lange-Nielsen syndrome.

M. Bitner-Glindzicz, L. Tranebjaerg, A. Tinker, 2001, Cardiovascular research.

Title : Germline selection shapes the landscape of human mitochondrial DNA

Kenneth G. C. Smith, Katherine R. Smith, K. Stirrups, 2019 .

Republished: Genetic investigations in childhood deafness

M. Bitner-Glindzicz, M. Parker, M. Parker, 2014, Postgraduate Medical Journal.

Lack of significant association between mutations of KCNJ10 or FOXI1 and SLC26A4 mutations in pendred syndrome/enlarged vestibular aqueducts

M. Bitner-Glindzicz, A. Differ, K. Rajput, 2013, BMC Medical Genetics.

Molecular heterogeneity in two families with auditory pigmentary syndromes: the role of neuroimaging and genetic analysis in deafness

M. Bitner-Glindzicz, D. Shears, K. Fukai, 2004, Clinical genetics.

A detailed clinical and molecular survey of subjects with nonsyndromic USH2A retinopathy reveals an allelic hierarchy of disease-causing variants

K. Steel, M. Bitner-Glindzicz, A. Coffey, 2015, European Journal of Human Genetics.

MUTATIONS IN THE USH1C GENE ASSOCIATED WITH SECTOR RETINITIS PIGMENTOSA AND HEARING LOSS

K. Steel, M. Bitner-Glindzicz, G. Holder, 2011, Retina.

Non‐mydriatic Retinal Photography as a Screening Service for General Practitioners

M. Bitner-Glindzicz, J. Yudkin, D. Rogers, 1990, Diabetic medicine : a journal of the British Diabetic Association.

Whole genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2018, Nature.

Prevalence of mitochondrial 1555A-->G mutation in European children.

S. Ring, M. Pembrey, M. Bitner-Glindzicz, 2009, The New England journal of medicine.

Diverse species-specific phenotypic consequences of loss of function sorting nexin 14 mutations

Thomas A. Hawkins, M. Bitner-Glindzicz, J. Rihel, 2019, Scientific Reports.

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

J. Weissenbach, M. Bitner-Glindzicz, R. Heilig, 1997, Nature Genetics.

Hearing in 44–45 year olds with m.1555A>G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study

D. Strachan, M. Bitner-Glindzicz, A. Forge, 2012, BMJ Open.

Hearing in 44 e 45 year olds with m.1555A > G, a genetic mutation predisposing to aminoglycoside-induced deafness: a population based cohort study

D. Strachan, M. Bitner-Glindzicz, A. Forge, 2022 .

The 100,000 Genomes Pilot on Rare Disease Diagnosis in Healthcare − A Preliminary Report

Julius O. B. Jacobsen, Robert W. Taylor, Eleanor F. Dewhurst, 2021, The New England journal of medicine.

Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia—A new metabolic disorder

M. Bitner-Glindzicz, P. Clayton, P. Mills, 2008, Journal of Inherited Metabolic Disease.

A nonsense mutation in COQ9 causes autosomal-recessive neonatal-onset primary coenzyme Q10 deficiency: a potentially treatable form of mitochondrial disease.

A. Singleton, J. Hardy, M. Bitner-Glindzicz, 2009, American journal of human genetics.

Blepharospasm and limb dystonia caused by Mohr‐Tranebjaerg syndrome with a novel splice‐site mutation in the deafness/dystonia peptide gene

M. Bitner-Glindzicz, M. Edwards, N. Quinn, 2007, Movement disorders : official journal of the Movement Disorder Society.

Phenotypic variability of mitochondrial disease caused by a nuclear mutation in complex II.

A. Pagnamenta, M. Bitner-Glindzicz, S. Rahman, 2006, Molecular genetics and metabolism.

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

K. Steel, M. Bitner-Glindzicz, John C Ambrose, 2011, Journal of Medical Genetics.

BIROn - Birkbeck Institutional Research Online identiﬁes variants in that are associated with fetal loss

M. Bitner-Glindzicz, A. Joseph, P. Stanier, 2020 .

Exome sequencing identifies variants in FKBP4 that are associated with recurrent fetal loss in humans.

M. Bitner-Glindzicz, M. Topf, A. Joseph, 2019, Human molecular genetics.

Congenital hearing loss

M. Bitner-Glindzicz, A. Boudewyns, M. Schleiss, 2017, Nature Reviews Disease Primers.

Mutation of SALL2 causes recessive ocular coloboma in humans and mice

M. Bitner-Glindzicz, E. Stupka, T. Jacques, 2014, Human molecular genetics.

A novel homeobox mutation in the PITX2 gene in a family with Axenfeld‐Rieger syndrome associated with brain, ocular, and dental phenotypes

M. Bitner-Glindzicz, S. Sisodiya, S. Free, 2006, American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics.

Mutation of SALL 2 causes recessive ocular coloboma in humans and mice

M. Bitner-Glindzicz, E. Stupka, T. Jacques, 2014 .

A ploidy-agnostic method for estimating telomere length from whole genome sequencing data.

Ania, Eleanor, Dewhurst, 2018 .

Prevalence and audiological features in carriers of GJB2 mutations, c.35delG and c.101T>C (p.M34T), in a UK population study

M. Pembrey, M. Bitner-Glindzicz, M. Lutman, 2012, BMJ Open.

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

A. Munnich, M. Bitner-Glindzicz, E. Tobias, 2013, Journal of Medical Genetics.

Abnormal KCNQ1 trafficking influences disease pathogenesis in hereditary long QT syndromes (LQT1).

Andrew J. Wilson, M. Bitner-Glindzicz, Andrew J Wilson, 2005, Cardiovascular research.

The Jervell and Lange-Nielsen syndrome.

M. Bitner-Glindzicz, L. Tranebjaerg, 2000, Advances in oto-rhino-laryngology.

Is gross motor delay secondary to bilateral vestibular hypofunction in Jervell and Lange-Nielsen syndrome?

M. Bitner-Glindzicz, E. Raglan, K. Rajput, 2012 .

Molecular basis of the long-QT syndrome.

M. Bitner-Glindzicz, J. Tyson, R. Jamieson, 1997, The New England journal of medicine.

Mutations within Sox 2 / SOX 2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans

R. Lovell-Badge, M. Bitner-Glindzicz, M. Dattani, 2006 .

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.

A. Pagnamenta, V. Mootha, M. Bitner-Glindzicz, 2015, Human molecular genetics.

M. Bitner-Glindzicz, T. Jacques, P. Khaw, 2011, Ophthalmology.

Screening for duplications, deletions and a common intronic mutation detects 35% of second mutations in patients with USH2A monoallelic mutations on Sanger sequencing

M. Bitner-Glindzicz, M. Claustres, E. Lenassi, 2013, Orphanet Journal of Rare Diseases.

Natural history and genetic aspects of the Jervell and Lange-Nielsen syndrome.

Toshihiro Tanaka, S. Priori, M. Bitner-Glindzicz, 2001 .

Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.

Robert W. Taylor, A. Pagnamenta, M. Bitner-Glindzicz, 2006, Human reproduction.

Molecular pathology of Usher 1B patient-derived retinal organoids at single cell resolution

M. Bitner-Glindzicz, J. Sowden, V. Di Foggia, 2022, Stem cell reports.

Stem Cell Repor ts Molecular pathology of Usher 1B patient-derived retinal organoids at single cell resolution

M. Bitner-Glindzicz, J. Sowden, Y. C. Leong, 2022 .

Deafblindness in French Canadians from Quebec: a predominant founder mutation in the USH1C gene provides the first genetic link with the Acadian population

M. Bitner-Glindzicz, I. Ebermann, I. Lopez, 2007, Genome Biology.

FOXRED1, encoding an FAD-dependent oxidoreductase complex-I-specific molecular chaperone, is mutated in infantile-onset mitochondrial encephalopathy.

A. Pagnamenta, V. Mootha, M. Bitner-Glindzicz, 2010, Human molecular genetics.

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

K. Arnos, A. Pandya, M. Bitner-Glindzicz, 2011, American journal of medical genetics. Part A.

DNA Diagnostics of Hereditary Hearing Loss: A Targeted Resequencing Approach Combined with a Mutation Classification System

Jason J. Corneveaux, M. Bitner-Glindzicz, G. Mortier, 2016, Human mutation.

The CAPOS mutation in ATP1A3 alters Na/K-ATPase function and results in auditory neuropathy which has implications for management

M. Bitner-Glindzicz, C. Möller, T. Bek, 2018, Human Genetics.

Mutation analyses of Uroplakin II in children with renal tract malformations.

M. Bitner-Glindzicz, J. Southgate, A. Woolf, 2006, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Gentamicin, genetic variation and deafness in preterm children

M. Bitner-Glindzicz, N. Marlow, S. Rahman, 2014, BMC Pediatrics.

An example of the utility of genomic analysis for fast and accurate clinical diagnosis of complex rare phenotypes

M. Bitner-Glindzicz, H. Williams, R. Kleta, 2017, Orphanet Journal of Rare Diseases.

Development of a genotyping microarray for Usher syndrome

C. Cremers, M. Bitner-Glindzicz, E. van Wijk, 2006, Journal of Medical Genetics.

De Novo Truncating Mutations in WASF1 Cause Intellectual Disability with Seizures

Henning Gall, Fengyuan Hu, Kevin Rue-Albrecht, 2018, American journal of human genetics.

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

Keith W. Muir, William J. Astle, Mark I. McCarthy, 2020, Nature.

Investigation of the child with permanent hearing impairment

M. Bitner-Glindzicz, B. M. Ardle, 2010, Archives of Disease in Childhood: Education & Practice Edition.

Analysis of KIT, SCF, and initial screening of SLUG in patients with piebaldism.

M. Bitner-Glindzicz, J. Atkin, M. Ishii, 2005, The Journal of investigative dermatology.

The changing face of Usher syndrome: Clinical implications

M. Bitner-Glindzicz, L. Luxon, Mazal Cohen, 2007, International journal of audiology.

Genetic investigations in childhood deafness

M. Bitner-Glindzicz, M. Parker, M. Parker, 2014, Archives of Disease in Childhood.

Analysis of mutant DNA polymerase γ in patients with mitochondrial DNA depletion

A. Pagnamenta, M. Bitner-Glindzicz, S. Rahman, 2009, Human mutation.

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

Maria Bitner-Glindzicz, Shamima Rahman, A. Pagnamenta, 2005, American journal of human genetics.

Evaluation of genotype-phenotype relationships in patients referred for endocrine assessment in suspected Pendred syndrome.

M. Bitner-Glindzicz, M. Korbonits, A. Grossman, 2015, European journal of endocrinology.

Prevalence and architecture of de novo mutations in developmental disorders

Joan, Caroline, Rajan, 2017, Nature.

Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2016, bioRxiv.

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

Mustafa Tekin, Umberto Ambrosetti, Nikolaus Blin, 2005, American journal of human genetics.

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

M Bitner-Glindzicz, M. Bitner-Glindzicz, H. Ropers, 1995, Science.

Identification of a hot spot for microdeletions in patients with X-linked deafness type 3 (DFN3) 900 kb proximal to the DFN3 gene POU3F4.

C. Cremers, M. Bitner-Glindzicz, H. Brunner, 1996, Human molecular genetics.

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

Sue Malcolm, Khalid Hussain, Peter J. Milla, 2000, Nature Genetics.

Usher syndrome: a review of the clinical phenotype, genes and therapeutic strategies

M. Bitner-Glindzicz, A. Webster, M. Toms, 2015 .

Update on Usher syndrome

M. Bitner-Glindzicz, A. Webster, L. Luxon, 2009, Current opinion in neurology.

Usher syndrome 1D and nonsyndromic autosomal recessive deafness DFNB12 are caused by allelic mutations of the novel cadherin-like gene CDH23.

M. Bitner-Glindzicz, S. Riazuddin, Z. Ahmed, 2001, American journal of human genetics.

A boy with a submicroscopic 22qter deletion, general overgrowth and features suggestive of FG syndrome

M. Bitner-Glindzicz, J. Flint, J. Tyson, 2000, Clinical genetics.

Further mutations in Brain 4 (POU3F4) clarify the phenotype in the X-linked deafness, DFN3.

M. Pembrey, M. Bitner-Glindzicz, F. Cremers, 1995, Human molecular genetics.

Mapping and cloning hereditary deafness genes.

M. Pembrey, M. Bitner-Glindzicz, F. Cremers, 1995, Current opinion in genetics & development.

Infantile hyperinsulinism associated with enteropathy, deafness and renal tubulopathy: clinical manifestations of a syndrome caused by a contiguous gene deletion located on chromosome 11p.

M. Bitner-Glindzicz, K. Hussain, A. Aynsley-Green, 2004, Journal of pediatric endocrinology & metabolism : JPEM.

The contribution of USH1C mutations to syndromic and non‐syndromic deafness in the UK

M. Bitner-Glindzicz, S. Malcolm, S. Bhattacharya, 2003, Clinical genetics.

Haplotype analysis of the USH1D locus and genotype–phenotype correlations

A. Pandya, M. Bitner-Glindzicz, S. Bellman, 2001, Clinical genetics.

The 100 000 Genomes Project: What it means for paediatrics

Maria Bitner-Glindzicz, M. Bitner-Glindzicz, L. Chitty, 2016, Archives of Disease in Childhood: Education & Practice Edition.

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

R. Lovell-Badge, M. Bitner-Glindzicz, M. Dattani, 2006, The Journal of clinical investigation.

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR‐based approach and next generation sequencing

M. Bitner-Glindzicz, M. Huentelman, J. Corneveaux, 2013, American journal of medical genetics. Part A.

Genetic heterogeneity in Cornelia de Lange syndrome (CdLS) and CdLS-like phenotypes with observed and predicted levels of mosaicism

Martin S. Taylor, A. Green, M. Bitner-Glindzicz, 2014, Journal of Medical Genetics.

Oto-facio-cervical (OFC) syndrome is a contiguous gene deletion syndrome involving EYA1: molecular analysis confirms allelism with BOR syndrome and further narrows the Duane syndrome critical region to 1 cM

M. Bitner-Glindzicz, R. Winter, M. Parker, 2001, Human Genetics.

Importance of clinical evaluation and molecular testing in the branchio-oto-renal (BOR) syndrome and overlapping phenotypes

M. Bitner-Glindzicz, R. Trompeter, M. Boxer, 2000, Journal of medical genetics.

Whole-genome sequencing of a sporadic primary immunodeficiency cohort

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Mutations in SNX14 cause a distinctive autosomal-recessive cerebellar ataxia and intellectual disability syndrome.

M. Bitner-Glindzicz, F. Baas, H. Williams, 2014, American journal of human genetics.

SNX14 mutations affect endoplasmic reticulum-associated neutral lipid metabolism in autosomal recessive spinocerebellar ataxia 20

M. Bitner-Glindzicz, D. Jenkins, P. Clayton, 2018, Human molecular genetics.

STAG3 truncating variant as the cause of primary ovarian insufficiency

M. Bitner-Glindzicz, H. Williams, F. Lescai, 2015, European Journal of Human Genetics.

Spectrum of GJB2 mutations causing deafness in the British Bangladeshi population

M Bitner-Glindzicz, M. Bitner-Glindzicz, T. Sirimanna, 2008, Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery.

The future role of genetic screening to detect newborns at risk of childhood-onset hearing loss

K. Steel, C. Langford, M. Bitner-Glindzicz, 2012, International journal of audiology.

Kantaputra mesomelic dysplasia: A second reported family

M. Bitner-Glindzicz, A. Offiah, T. Sirimanna, 2004, American journal of medical genetics. Part A.

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder

Rachel L. Taylor, R. Pfundt, M. Reijnders, 2018, American journal of human genetics.

Rapid Paediatric Sequencing (RaPS): comprehensive real-life workflow for rapid diagnosis of critically ill children

M. Bitner-Glindzicz, H. Williams, J. Hurst, 2018, Journal of Medical Genetics.

Mapping of DFN2 to Xq22.

M. Pembrey, M. Bitner-Glindzicz, J. Tyson, 1996, Human molecular genetics.

X-linked mixed deafness (DFN3): cloning and characterization of the critical region allows the identification of novel microdeletions.

A. Monaco, M. Pembrey, M. Bitner-Glindzicz, 1994, Human molecular genetics.

The effect of the common c.2299delG mutation in USH2A on RNA splicing.

M. Bitner-Glindzicz, E. Lenassi, A. Webster, 2014, Experimental eye research.

The Oculome Panel Test: Next-Generation Sequencing to Diagnose a Diverse Range of Genetic Developmental Eye Disorders.

M. Bitner-Glindzicz, J. Hurst, P. Khaw, 2019, Ophthalmology.

Functional characterization of GATA3 mutations causing the hypoparathyroidism-deafness-renal (HDR) dysplasia syndrome: insight into mechanisms of DNA binding by the GATA3 transcription factor.

J. Gécz, M. Bitner-Glindzicz, J. Tolmie, 2006, Human molecular genetics.

Late postnatal onset of hearing loss due to GJB2 mutations.

M. Bitner-Glindzicz, T. Sirimanna, W. Pagarkar, 2006, International journal of pediatric otorhinolaryngology.

Mutational analyses of UPIIIA, SHH, EFNB2 and HNF1beta in persistent cloaca and associated kidney malformations.

A. Zinn, M. Bitner-Glindzicz, S. Ellard, 2007, Journal of pediatric urology.

De novo Uroplakin IIIa heterozygous mutations cause human renal adysplasia leading to severe kidney failure.

M. Bitner-Glindzicz, T. Sun, A. Woolf, 2005, Journal of the American Society of Nephrology : JASN.

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

William J. Astle, Sri V. V. Deevi, Kenneth G. C. Smith, 2020, Nature.

Close linkage of a gene for X linked deafness to three microsatellite repeats at Xq21 in radiologically normal and abnormal families.

M. Pembrey, M. Bitner-Glindzicz, W. Reardon, 1994, Journal of medical genetics.

Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen

Ole Lund, Lisbeth Tranebjærg, Maria Bitner-Glindzicz, 2000, Human Genetics.

Jervell and Lange-Nielsen syndrome: a Norwegian perspective.

M Bitner-Glindzicz, J Tyson, M. Bitner-Glindzicz, 1999, American journal of medical genetics.

Clinical and preclinical therapeutic outcome metrics for USH2A-related disease

M. Bitner-Glindzicz, E. van Wijk, S. Baxendale, 2020, Human molecular genetics.

Functional Assessment of Variants Associated with Wolfram Syndrome.

M. Bitner-Glindzicz, K. Hussain, Erdal Kurnaz, 2019, Human molecular genetics.

Clinical heterogeneity in a family with mutations in USH2A.

M. Bitner-Glindzicz, E. Lenassi, A. Webster, 2015, JAMA ophthalmology.

Hemifacial microsomia: progress in understanding the genetic basis of a complex malformation syndrome

E. Haan, M. Bitner-Glindzicz, R. Winter, 2001, Human Genetics.

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

H. Peeters, M. Bitner-Glindzicz, R. Hennekam, 2011, Nature Genetics.

WFS1-Associated Optic Neuropathy: Genotype-Phenotype Correlations and Disease Progression.

M. Bitner-Glindzicz, A. Stockman, K. Brock, 2022, American journal of ophthalmology.

Management of chronic knee pain

M. Bitner-Glindzicz, S. Rahman, Marlene Fransen, 2007, BMJ : British Medical Journal.

Natural history and retinal structure in patients with Usher syndrome type 1 owing to MYO7A mutation.

Valentina Cipriani, Linda M Luxon, Maria Bitner-Glindzicz, 2014, Ophthalmology.

Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes.

M. Bitner-Glindzicz, Y. Jamshidi, J. Sowden, 2009, Investigative ophthalmology & visual science.

Mitochondrial m.1584A 12S m62A rRNA methylation in families with m.1555A>G associated hearing loss

M. Bitner-Glindzicz, S. Rahman, E. Ashton, 2014, Human molecular genetics.

Author Correction: CHD3 helicase domain mutations cause a neurodevelopmental syndrome with macrocephaly and impaired speech and language

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, Nature Communications.

Clinical utility gene card for: Wolfram syndrome

M. Bitner-Glindzicz, R. Bowman, P. Yu-Wai-Man, 2016, European Journal of Human Genetics.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Fengyuan Hu, Kevin Rue-Albrecht, Patrick Deegan, 2017, Circulation.

Opening the “black box” of informed consent appointments for genome sequencing: a multisite observational study

M. Bitner-Glindzicz, C. Patch, L. Chitty, 2018, Genetics in Medicine.

Three New Mutations and Mild, Asymmetrical Phenotype in the Highly Distinctive LAMM Syndrome: A Report of Eight Further Cases

M. Bitner-Glindzicz, W. Pagarkar, T. Cullup, 2019, Genes.

The timing of auditory sensory deficits in Norrie disease has implications for therapeutic intervention

K. Steel, M. Bitner-Glindzicz, D. Jagger, 2022, JCI insight.

Genetic analysis of the connexin-26 M34T variant: identification of genotype M34T/M34T segregating with mild-moderate non-syndromic sensorineural hearing loss

A. Pagnamenta, M. Bitner-Glindzicz, W. Reardon, 2001, Journal of medical genetics.

EMQN Best Practice guidelines for diagnostic testing of mutations causing non-syndromic hearing impairment at the DFNB1 locus

M. Bitner-Glindzicz, L. Hoefsloot, A. Roux, 2013, European Journal of Human Genetics.

Specific loss of connexin 26 expression in ductal sweat gland epithelium associated with the deletion mutation del(GJB6‐D13S1830)

J. Common, M. Bitner-Glindzicz, M. Barnes, 2005, Clinical and experimental dermatology.

Recurrent mutations in the deafness geneGJB2 (connexin 26) in British Asian families

M. Bitner-Glindzicz, D. Kelsell, B. Macardle, 2001, Journal of medical genetics.

Prevalence of mitochondrial DNA mutations in childhood/congenital onset non-syndromal sensorineural hearing impairment

M. Bitner-Glindzicz, M. Parker, R. Mueller, 2001, Journal of medical genetics.

Splice mutations in KVLQT1?

M Bitner-Glindzicz, J Tyson, M. Bitner-Glindzicz, 1999, Circulation.

Mutational spectrum in the cardioauditory syndrome of Jervell and Lange-Nielsen

M. Pembrey, M. Bitner-Glindzicz, L. Larsen, 2000, Human Genetics.

Cumulative risk factors contributing to hearing loss in preterm infants

M. Bitner-Glindzicz, N. Marlow, K. Chant, 2022, Archives of disease in childhood. Fetal and neonatal edition.

Recurrent mutations in the deafness geneGJB2 (connexin 26) in British Asian families

C. Wijmenga, M. Bitner-Glindzicz, D. Kelsell, 2001, Journal of medical genetics.

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

Joshua C Randall, Tomas W. Fitzgerald, G. J. Swaminathan, 2018, American journal of human genetics.

Systemic gene therapy rescues retinal dysfunction and hearing loss in a model of Norrie disease

K. Steel, M. Bitner-Glindzicz, N. Ingham, 2023, EMBO molecular medicine.

Functional characterization of GATA 3 mutations causing the hypoparathyroidism-deafness-renal ( HDR ) dysplasia syndrome : insight into mechanisms of DNA binding by the GATA 3 transcription factor

N. Freimer, T. Hudson, E. Silverman, 2007 .

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Andy G Lynch, Sri V. V. Deevi, Eleanor F. Dewhurst, 2017, Scientific Reports.

Opening the “black box” of informed consent appointments for genome sequencing: a multisite observational study

M. Bitner-Glindzicz, C. Patch, L. Chitty, 2018, Genetics in Medicine.

Mapping of a locus for autosomal dominant Hemifacial Microsomia

Sue Malcolm, Maria Bitner-Glindzicz, Sue Malcolm, 2000 .

Causes of deafness in British Bangladeshi children: a prevalence twice that of the UK population cannot be accounted for by consanguinity alone

M. Bitner-Glindzicz, T. Sirimanna, M. Cortina-Borja, 2009, Clinical otolaryngology : official journal of ENT-UK ; official journal of Netherlands Society for Oto-Rhino-Laryngology & Cervico-Facial Surgery.

Identification of p.A684V missense mutation in the WFS1 gene as a frequent cause of autosomal dominant optic atrophy and hearing impairment

K. Arnos, A. Pandya, M. Bitner-Glindzicz, 2011, American journal of medical genetics. Part A.

A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR‐based approach and next generation sequencing

Jason J. Corneveaux, M. Bitner-Glindzicz, M. Huentelman, 2013, American Journal of Medical Genetics. Part A.

Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data

Sri V. V. Deevi, Eleanor F. Dewhurst, Courtney E. French, 2017, Scientific Reports.

Genetic risk for primary open-angle glaucoma determined by LMX1B haplotypes.

M. Bitner-Glindzicz, Y. Jamshidi, J. Sowden, 2009, Investigative ophthalmology & visual science.

Phenotypic Characterization of EIF2AK4 Mutation Carriers in a Large Cohort of Patients Diagnosed Clinically With Pulmonary Arterial Hypertension

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, Circulation.

Biallelic Mutation of ARHGEF18, Involved in the Determination of Epithelial Apicobasal Polarity, Causes Adult-Onset Retinal Degeneration.

Sri V. V. Deevi, Eleanor F. Dewhurst, Lorena E. Lorenzo, 2017, American journal of human genetics.

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

Eleanor F. Dewhurst, K. Stirrups, D. Grozeva, 2017, American journal of human genetics.