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PhaseDancer: a novel targeted assembler of segmental duplications unravels the complexity of the human chromosome 2 fusion going from 48 to 46 chromosomes in hominin evolution

Genome Biology, 2023-09, Vol.24 (1), p.1-23, Article 205

2023

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Phenotypic spectrum of FGF10 -related disorders: a systematic review

PeerJ (San Francisco, CA), 2022-09, Vol.10, p.e14003-e14003, Article e14003

2022

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

Respiratory research, 2021-01, Vol.22 (1), p.26-26, Article 26

2021

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Macrolide and lincosamide resistance of Streptococcus agalactiae in pregnant women in Poland

Scientific reports, 2024-02, Vol.14 (1), p.3877-3877, Article 3877

2024

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Sequence variants contributing to dysregulated inflammatory responses across keratoconic cone surface in adolescent patients with keratoconus

Frontiers in immunology, 2023-07, Vol.14, p.1197054-1197054

2023

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Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency

Respiratory research, 2021-07, Vol.22 (1), p.212-212, Article 212

2021

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Differences in the composition of the bacterial element of the urinary tract microbiome in patients undergoing dialysis and patients after kidney transplantation

Frontiers in microbiology, 2023-06, Vol.14, p.1187625-1187625

2023

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Influence of TGFBR2, TGFB3, DNMT1, and DNMT3A Knockdowns on CTGF, TGFBR2, and DNMT3A in Neonatal and Adult Human Dermal Fibroblasts Cell Lines

Current issues in molecular biology, 2021-06, Vol.43 (1), p.276-285

2021

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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

BMC medical genomics, 2020-03, Vol.13 (1), p.34-8, Article 34

2020

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

Mammalian genome, 2017-08, Vol.28 (7-8), p.275-282

2017

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

PeerJ (San Francisco, CA), 2020-04, Vol.8, p.e8982-e8982, Article e8982

2020

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Characterization of Ocular Surface Microbial Profiles Revealed Discrepancies between Conjunctival and Corneal Microbiota

Pathogens (Basel), 2021-03, Vol.10 (4), p.405

2021

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

PeerJ (San Francisco, CA), 2020-08, Vol.8, p.e9793-e9793, Article e9793

2020

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Ultra-conserved non-coding sequences within the FOXF1 enhancer are critical for human lung development

Genes & diseases, 2022-11, Vol.9 (6), p.1423-1426

2022

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

BMC pediatrics, 2020-06, Vol.20 (1), p.320-320, Article 320

2020

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Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and Hydronephrosis

Genes, 2023-02, Vol.14 (3), p.563

2023

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High‐level gonosomal mosaicism for a pathogenic non‐coding CNV deletion of the lung‐specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV

Molecular genetics & genomic medicine, 2022-11, Vol.10 (11), p.e2062-n/a

2022

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Genomic strategies to understand causes of keratoconus

Molecular Genetics and Genomics, 2017-04, Vol.292 (2), p.251-269

2017

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Decreased Levels of DNA Methylation in the PCDHA Gene Cluster as a Risk Factor for Early-Onset High Myopia in Young Children

Investigative ophthalmology & visual science, 2022-08, Vol.63 (9), p.31-31

2022

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

American journal of respiratory and critical care medicine, 2019-11, Vol.200 (9), p.1093-1101

2019

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Lung‐specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR

Human mutation, 2021-06, Vol.42 (6), p.694-698

2021

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

Clinical epigenetics, 2019-04, Vol.11 (1), p.60-60, Article 60

2019

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Transcriptome and Immunohistochemical Analyses in TBX4 - and FGF10 -Deficient Lungs Imply TMEM100 as a Mediator of Human Lung Development

American journal of respiratory cell and molecular biology, 2022-06, Vol.66 (6), p.694-697

2022

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

Investigative ophthalmology & visual science, 2019-04, Vol.60 (5), p.1501

2019

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Diminished TMEM100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant: A Case Report

Pediatric and developmental pathology, 2024-05, Vol.27 (3), p.255-259

2024

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PhaseDancer: a novel targeted assembler of segmental duplications unravels the complexity of the human chromosome 2 fusion going from 48 to 46 chromosomes in hominin evolution

Phenotypic spectrum of FGF10 -related disorders: a systematic review

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

Macrolide and lincosamide resistance of Streptococcus agalactiae in pregnant women in Poland

Sequence variants contributing to dysregulated inflammatory responses across keratoconic cone surface in adolescent patients with keratoconus

Perturbation of semaphorin and VEGF signaling in ACDMPV lungs due to FOXF1 deficiency

Differences in the composition of the bacterial element of the urinary tract microbiome in patients undergoing dialysis and patients after kidney transplantation

Influence of TGFBR2, TGFB3, DNMT1, and DNMT3A Knockdowns on CTGF, TGFBR2, and DNMT3A in Neonatal and Adult Human Dermal Fibroblasts Cell Lines

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

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

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

Characterization of Ocular Surface Microbial Profiles Revealed Discrepancies between Conjunctival and Corneal Microbiota

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

Ultra-conserved non-coding sequences within the FOXF1 enhancer are critical for human lung development

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

Prenatal Detection of a FOXF1 Deletion in a Fetus with ACDMPV and Hydronephrosis

High‐level gonosomal mosaicism for a pathogenic non‐coding CNV deletion of the lung‐specific FOXF1 enhancer in an unaffected mother of an infant with ACDMPV

Genomic strategies to understand causes of keratoconus

Decreased Levels of DNA Methylation in the PCDHA Gene Cluster as a Risk Factor for Early-Onset High Myopia in Young Children

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

Lung‐specific distant enhancer cis regulates expression of FOXF1 and lncRNA FENDRR

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

Transcriptome and Immunohistochemical Analyses in TBX4 - and FGF10 -Deficient Lungs Imply TMEM100 as a Mediator of Human Lung Development

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

Diminished TMEM100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant: A Case Report

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