List of works - Justyna A Karolak

A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report

scientific article published on 06 March 2020

A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins

scientific article published on 22 August 2019

Accumulation of sequence variants in genes of Wnt signaling and focal adhesion pathways in human corneas further explains their involvement in keratoconus

scientific article published on 14 April 2020

Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype

scientific article published on 04 November 2019

CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region.

scientific article published on 12 April 2017

Changes in Nuclear Gene Expression Related to Mitochondrial Function Affect Extracellular Matrix, Collagens, and Focal Adhesion in Keratoconus

scientific article published on 01 September 2021

Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders

scientific article published on 01 November 2019

Collagen synthesis disruption and downregulation of core elements of TGF-β, Hippo, and Wnt pathways in keratoconus corneas

scientific article

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

scientific article published on 10 January 2019

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes

scientific article published on 08 July 2011

Epigenetically dysregulated genes and pathways implicated in the pathogenesis of non-syndromic high myopia

article

Evidence against ZNF469 being causative for keratoconus in Polish patients

scientific article

Further evaluation of differential expression of keratoconus candidate genes in human corneas

scientific article published on 20 August 2020

Genomic strategies to understand causes of keratoconus.

scientific article published on 28 December 2016

Genotype-phenotype correlation in two Polish neonates with alveolar capillary dysplasia

scientific article published on 29 June 2020

Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity

scientific article published on 22 July 2019

Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

scientific article published on 07 February 2020

IGF-1 gene polymorphisms in Polish families with high-grade myopia

scientific article

KTCNlncDB-a first platform to investigate lncRNAs expressed in human keratoconus and non-keratoconus corneas.

scientific article published on 10 January 2017

LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV

scientific article published on 22 August 2018

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

scientific article published on 13 July 2020

Molecular Screening of Keratoconus Susceptibility Sequence Variants in VSX1, TGFBI, DOCK9, STK24, and IPO5 Genes in Polish Patients and Novel TGFBI Variant Identification.

scientific article

Multiple Differentially Methylated Regions Specific to Keratoconus Explain Known Keratoconus Linkage Loci

scientific article published on 01 April 2019

Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus.

scientific article

Novel parent-of-origin-specific differentially methylated loci on chromosome 16

scientific article published on 08 April 2019

Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings

scientific article published on 06 May 2020

Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq

scientific article published on 21 January 2021

Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus

scientific article

Substitution at IL1RN and deletion at SLC4A11 segregating with phenotype in familial keratoconus

scientific article published on 01 March 2013

Variant c.2262A>C in DOCK9 Leads to Exon Skipping in Keratoconus Family

scientific article published in December 2015

Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing

scientific article published on 5 October 2016

List of works by Justyna A Karolak

A de novo 2.2 Mb recurrent 17q23.1q23.2 deletion unmasks novel putative regulatory non-coding SNVs associated with lethal lung hypoplasia and pulmonary hypertension: a case report

A recurrent 8 bp frameshifting indel in FOXF1 defines a novel mutation hotspot associated with alveolar capillary dysplasia with misalignment of pulmonary veins

Accumulation of sequence variants in genes of Wnt signaling and focal adhesion pathways in human corneas further explains their involvement in keratoconus

Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype

CRISPR/Cas9-mediated deletion of lncRNA Gm26878 in the distant Foxf1 enhancer region.

Changes in Nuclear Gene Expression Related to Mitochondrial Function Affect Extracellular Matrix, Collagens, and Focal Adhesion in Keratoconus

Clinical, Histopathological, and Molecular Diagnostics in Lethal Lung Developmental Disorders

Collagen synthesis disruption and downregulation of core elements of TGF-β, Hippo, and Wnt pathways in keratoconus corneas

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes

Epigenetically dysregulated genes and pathways implicated in the pathogenesis of non-syndromic high myopia

Evidence against ZNF469 being causative for keratoconus in Polish patients

Further evaluation of differential expression of keratoconus candidate genes in human corneas

Genomic strategies to understand causes of keratoconus.

Genotype-phenotype correlation in two Polish neonates with alveolar capillary dysplasia

Heterozygous CTNNB1 and TBX4 variants in a patient with abnormal lung growth, pulmonary hypertension, microcephaly, and spasticity

Highly Sensitive Blocker Displacement Amplification and Droplet Digital PCR Reveal Low-Level Parental FOXF1 Somatic Mosaicism in Families with Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins

IGF-1 gene polymorphisms in Polish families with high-grade myopia

KTCNlncDB-a first platform to investigate lncRNAs expressed in human keratoconus and non-keratoconus corneas.

LINE- and Alu-containing genomic instability hotspot at 16q24.1 associated with recurrent and nonrecurrent CNV deletions causative for ACDMPV

Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions

Molecular Screening of Keratoconus Susceptibility Sequence Variants in VSX1, TGFBI, DOCK9, STK24, and IPO5 Genes in Polish Patients and Novel TGFBI Variant Identification.

Multiple Differentially Methylated Regions Specific to Keratoconus Explain Known Keratoconus Linkage Loci

Novel mutation and three other sequence variants segregating with phenotype at keratoconus 13q32 susceptibility locus.

Novel parent-of-origin-specific differentially methylated loci on chromosome 16

Parental somatic mosaicism for CNV deletions - A need for more sensitive and precise detection methods in clinical diagnostics settings

Potential interactions between the TBX4-FGF10 and SHH-FOXF1 signaling during human lung development revealed using ChIP-seq

Sequence variants in COL4A1 and COL4A2 genes in Ecuadorian families with keratoconus

Substitution at IL1RN and deletion at SLC4A11 segregating with phenotype in familial keratoconus

Variant c.2262A>C in DOCK9 Leads to Exon Skipping in Keratoconus Family

Variants in SKP1, PROB1, and IL17B genes at keratoconus 5q31.1-q35.3 susceptibility locus identified by whole-exome sequencing