List of works - Agnieszka Pollak

A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation

scientific article published on 17 October 2018

A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene.

scientific article

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

scientific article published on 12 March 2020

Advances in genetic hearing loss: CIB2 gene

scientific article

Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population

scientific article published on 10 January 2006

Application of next‑generation sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss

scientific article published on 15 November 2017

Audio profiles in mitochondrial deafness m.1555A>G and m.3243A>G show distinct differences

scientific article

Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.

scientific article

Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.

scientific article

Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy

scientific article published on 25 September 2017

Corrigendum: Next-generation Sequencing Analysis of New Genotypes Appearing During Antiviral Treatment of Chronic Hepatitis C Reveals that These Are Selected from Pre-existing Minor Strains

scientific article published on 11 January 2019

Developmental delay with hypotrophy associated with homozygous functionally relevant REV3L variant

scientific article published on 20 January 2021

Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs

scientific article published on 13 June 2018

Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?

scientific article published in January 2014

Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features

scientific article published in March 2018

Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.

scientific article

Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy.

scientific article

Exome sequencing reveals mutations inMFN2andGDAP1in severe Charcot-Marie-Tooth disease

scientific article published on 01 September 2014

Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the Gene

Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy.

scientific article

GJB2 and hearing impairment: promoter defects do not explain the excess of monoallelic mutations.

scientific article published in September 2008

GJB2 mutations and degree of hearing loss: a multicenter study

scientific article

Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation

scientific article published on 15 September 2008

Harnessing the potential of the environmental microbiome in forensic science

scientific article published in 2021

Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy.

scientific article

Human Pegivirus in Patients with Encephalitis of Unclear Etiology, Poland

article

Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression.

scientific article published on 15 March 2017

Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen

scientific article

KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy

scientific article published on 14 July 2016

Kardiologiczna manifestacja zespołu MELAS wywołana mutacją mDNA w pozycji 3243

scientific article published on 01 January 2014

Longrange PCR-based next-generation sequencing in pharmacokinetics and pharmacodynamics study of propofol among patients under general anaesthesia.

scientific article published on 13 November 2017

M34T and V37I mutations inGJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance

scientific article published on 01 November 2007

MTHFR 677T is a strong determinant of the degree of hearing loss among Polish males with postlingual sensorineural hearing impairment

scientific article

Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence

article

Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss.

scientific article published on 28 March 2010

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

scientific article published in February 2018

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre

scientific article

Next-generation sequencing (NGS) in the identification of encephalitis-causing viruses: Unexpected detection of human herpesvirus 1 while searching for RNA pathogens.

scientific article

Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

scientific article published on 4 May 2016

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.

scientific article

Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: strategy to avoid KRT14 pseudogene amplification by a simple approach.

scientific article published on 24 October 2009

Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.

scientific article

ORF15 exon of the RPGR gene in retinitis pigmentosa – technically difficult, diagnostically important

Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss

scientific article published on 14 August 2019

Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss.

scientific article published on 25 September 2015

Pathology of mitochondria in MELAS syndrome: an ultrastructural study.

scientific article

Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15.

scientific article published on 2 April 2018

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

scientific article

Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype

scientific article

Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.

scientific article published on 22 April 2016

The contribution of the mitochondrial COI/tRNA(Ser(UCN)) gene mutations to non-syndromic and aminoglycoside-induced hearing loss in Polish patients

scientific article published on 13 May 2011

Tinnitus in patients with hearing loss due to mitochondrial DNA pathogenic variants

scholarly article by Urszula Lechowicz et al published August 2018 in European Archives of Oto-Rhino-Laryngology

Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations

scientific article

Transferrin hypoglycosylation in hereditary fructose intolerance: Using the clues and avoiding the pitfalls

scientific article published on 24 April 2007

Transferrin isoelectric focusing and plasma lysosomal enzyme activities in the diagnosis and follow‐up of hereditary fructose intolerance

scientific article published on 08 June 2012

Uncommon constellation of multiglandular deficiency with 2 mutations in AIRE gene in an 18-year-old girl - 12 years of observation

scientific article published in January 2014

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss

scientific article published on 2 December 2017

List of works by Agnieszka Pollak

A 23-year follow-up of a male with Hajdu-Cheney syndrome due to NOTCH2 mutation

A note of caution on the diagnosis of Martin-Probst syndrome by the detection of the p.D59G mutation in the RAB40AL gene.

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant

Advances in genetic hearing loss: CIB2 gene

Aldolase B mutations and prevalence of hereditary fructose intolerance in a Polish population

Application of next‑generation sequencing to identify mitochondrial mutations: Study on m.7511T>C in patients with hearing loss

Audio profiles in mitochondrial deafness m.1555A>G and m.3243A>G show distinct differences

Breakpoint Mapping of Symptomatic Balanced Translocations Links the EPHA6, KLF13 and UBR3 Genes to Novel Disease Phenotype.

Clinical and molecular characteristics of newly reported mitochondrial disease entity caused by biallelic PARS2 mutations.

Coexistence of mutations in keratin 10 (KRT10) and the mitochondrial genome in a patient with ichthyosis with confetti and Leber's hereditary optic neuropathy

Corrigendum: Next-generation Sequencing Analysis of New Genotypes Appearing During Antiviral Treatment of Chronic Hepatitis C Reveals that These Are Selected from Pre-existing Minor Strains

Developmental delay with hypotrophy associated with homozygous functionally relevant REV3L variant

Developmental epileptic encephalopathy with hypomyelination and brain atrophy associated with PTPN23 variants affecting the assembly of UsnRNPs

Does p.Q247X in TRIM63 cause human hypertrophic cardiomyopathy?

Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features

Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.

Evidence for troponin C (TNNC1) as a gene for autosomal recessive restrictive cardiomyopathy with fatal outcome in infancy.

Exome sequencing reveals mutations inMFN2andGDAP1in severe Charcot-Marie-Tooth disease

Further Delineation of Phenotype and Genotype of Primary Microcephaly Syndrome with Cortical Malformations Associated with Mutations in the Gene

Further evidence for GRIN2B mutation as the cause of severe epileptic encephalopathy.

GJB2 and hearing impairment: promoter defects do not explain the excess of monoallelic mutations.

GJB2 mutations and degree of hearing loss: a multicenter study

Genetics of Meesmann corneal dystrophy: a novel mutation in the keratin 3 gene in an asymptomatic family suggests genotype-phenotype correlation

Harnessing the potential of the environmental microbiome in forensic science

Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy.

Human Pegivirus in Patients with Encephalitis of Unclear Etiology, Poland

Isolated Hearing Impairment Caused by SPATA5 Mutations in a Family with Variable Phenotypic Expression.

Iterative Sequencing and Variant Screening (ISVS) as a novel pathogenic mutations search strategy - application for TMPRSS3 mutations screen

KIF5A de novo mutation associated with myoclonic seizures and neonatal onset progressive leukoencephalopathy

Kardiologiczna manifestacja zespołu MELAS wywołana mutacją mDNA w pozycji 3243

Longrange PCR-based next-generation sequencing in pharmacokinetics and pharmacodynamics study of propofol among patients under general anaesthesia.

M34T and V37I mutations inGJB2 associated hearing impairment: Evidence for pathogenicity and reduced penetrance

MTHFR 677T is a strong determinant of the degree of hearing loss among Polish males with postlingual sensorineural hearing impairment

Molecular background of polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome in a Polish population: novel AIRE mutations and an estimate of disease prevalence

Mutation analysis of mitochondrial 12S rRNA gene in Polish patients with non-syndromic and aminoglycoside-induced hearing loss.

NDUFB8 Mutations Cause Mitochondrial Complex I Deficiency in Individuals with Leigh-like Encephalomyopathy.

New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre

Next-generation sequencing (NGS) in the identification of encephalitis-causing viruses: Unexpected detection of human herpesvirus 1 while searching for RNA pathogens.

Next-generation sequencing for diagnosis of thoracic aortic aneurysms and dissections: diagnostic yield, novel mutations and genotype phenotype correlations.

Novel and De Novo Mutations Extend Association of POU3F4 with Distinct Clinical and Radiological Phenotype of Hearing Loss.

Novel keratin 14 hotspot mutation in Dowling-Meara type of epidermolysis bullosa simplex: strategy to avoid KRT14 pseudogene amplification by a simple approach.

Novel neuro-audiological findings and further evidence for TWNK involvement in Perrault syndrome.

ORF15 exon of the RPGR gene in retinitis pigmentosa – technically difficult, diagnostically important

Overinterpretation of high throughput sequencing data in medical genetics: first evidence against TMPRSS3/GJB2 digenic inheritance of hearing loss

Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss.

Pathology of mitochondria in MELAS syndrome: an ultrastructural study.

Phenotypic consequences of gene disruption by a balanced de novo translocation involving SLC6A1 and NAA15.

Phenotypic variability of patients homozygous for the GJB2 mutation 35delG cannot be explained by the influence of one major modifier gene

Postlingual hearing loss as a mitochondrial 3243A>G mutation phenotype

Spondyloepimetaphyseal dysplasia with neurodegeneration associated with AIFM1 mutation - a novel phenotype of the mitochondrial disease.

The contribution of the mitochondrial COI/tRNA(Ser(UCN)) gene mutations to non-syndromic and aminoglycoside-induced hearing loss in Polish patients

Tinnitus in patients with hearing loss due to mitochondrial DNA pathogenic variants

Titin Truncating Variants in Dilated Cardiomyopathy - Prevalence and Genotype-Phenotype Correlations

Transferrin hypoglycosylation in hereditary fructose intolerance: Using the clues and avoiding the pitfalls

Transferrin isoelectric focusing and plasma lysosomal enzyme activities in the diagnosis and follow‐up of hereditary fructose intolerance

Uncommon constellation of multiglandular deficiency with 2 mutations in AIRE gene in an 18-year-old girl - 12 years of observation

Whole exome sequencing identifies TRIOBP pathogenic variants as a cause of post-lingual bilateral moderate-to-severe sensorineural hearing loss