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Justyna Karolak

Poznan University of Medical Sciences

Poland

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Research Interests

Cell Biology

40%

Obstetrics And Gynecology

20%

Medical Science

60%

Birth Defect

30%

Pulmonary Fibrosis

30%

Rare Disease

20%

Homologous Recombination

20%

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Articles15

A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia

Article Link

Year:

2024

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

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Year:

2024

Single Cell Multiomics Identifies Cells and Genetic Networks Underlying Alveolar Capillary Dysplasia.

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Year:

2023

Molecular Function and Contribution of TBX4 in Development and Disease

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Year:

2023

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

Article Link

Year:

2023

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

Article Link

Year:

2023

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

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Year:

2023

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

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Year:

2023

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

Article Link

Year:

2023

Single Cell Multiomics Identifies Cells and Genetic Networks Underlying Alveolar Capillary Dysplasia

Article Link

Year:

2023

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

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Year:

2022

Exacerbation of mild lung disorders to lethal pulmonary hypoplasia by a noncoding hypomorphic SNV in a lung‐specific enhancer in trans to the frameshifting TBX4 variant

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Year:

2022

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

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Year:

2022

Do paternal deletions involving the FOXF1 locus on chromosome 16q24.1 manifest with more severe non-lung anomalies?

Article Link

Year:

2022

Phenotypic spectrum of FGF10-related disorders: a systematic review

Article Link

Year:

2022

Collaborators9

David Montani

Université de Paris Faculté de Santé

FRANCE

Steven H. Abman

UNITED STATES

Katarzyna Jaskiewicz-Rajewicz

Institute of Human Genetics Polish Academy of Sciences

POLAND

Marzena Gajecka

Professor, Head of the Chair and Department

Uniwersytet Medyczny imienia Karola Marcinkowskiego w Poznaniu

POLAND

Robert Smigiel

prof.

Wroclaw Medical University

POLAND

MINZHE GUO

Assistant Professor

Cincinnati Children's Hospital Medical Center

UNITED STATES

Tomasz Gambin

Instytut Matki i Dziecka

POLAND

Dorota Nowak-Malczewska

Poznan University of Medical Sciences

POLAND

Ploski R

POLAND

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