Justyna A. Karolak

MedicineBiochemistry, Genetics and Molecular Biology

Pilot corpus only

This score is computed over theSindex pilot corpus and does not cover the full scientific literature. Scores are relative to papers we have ingested — papers, authors, and institutions outside the pilot are not represented. Methodology.

Top 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 15 papers. Top paper: “Low-level parental somatic mosaic SNVs in exomes from a large cohort of trios with diverse suspected Mendelian conditions”.

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

Genetics in Medicine(2020)10.1038/s41436-020-0897-z

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63 citations

Qian Liu, Justyna A. Karolak, Christopher M. Grochowski, Nina Guanyi Xie, Lucia R. Wu +16 more

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

Genomics(2020)10.1016/j.ygeno.2020.05.003

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18 citations

Justyna A. Karolak, Christopher M. Grochowski, Theresa A. Wilson, Jill A. Rosenfeld, Carlos A. Bacino +9 more

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)10.1186/s12920-020-0701-6

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30 citations

Tomasz Gambin, Engela Honey, Tomáš Slavík, Edwina J. Popek, Paweł Stankiewicz +1 more

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

Journal of Molecular Diagnostics(2020)10.1016/j.jmoldx.2019.12.007

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26 citations

Qian Liu, Nina Guanyi Xie, Lucia R. Wu, Gustavo Rocha, Susana Fernandes +14 more

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

Respiratory Research(2021)10.1186/s12931-021-01797-7

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35 citations

Tomasz Gambin, Przemysław Szafrański, Rebecca L. Maywald, Edwina J. Popek, Jason D. Heaney +2 more

Lung‐specific distant enhancer cis regulates expression ofFOXF1and lncRNAFENDRR

Human Mutation(2021)10.1002/humu.24198

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32 citations

Tomasz Gambin, Justyna A. Karolak, Edwina J. Popek, Paweł Stankiewicz, Przemysław Szafrański

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

Respiratory Research(2021)10.1186/s12931-021-01617-y

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25 citations

Tomasz Gambin, Przemysław Szafrański, Paweł Stankiewicz, Justyna A. Karolak

Variants in FLRT3 and SLC35E2B identified using exome sequencing in seven high myopia families from Central Europe

Advances in Medical Sciences(2021)10.1016/j.advms.2021.02.005

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8 citations

Justyna A. Karolak, Tomasz Gambin, Małgorzata Rydzanicz, Agata Frajdenberg, Małgorzata Mrugacz +5 more

Molecular Function and Contribution of TBX4 in Development and Disease

American Journal of Respiratory and Critical Care Medicine(2022)10.1164/rccm.202206-1039tr

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40 citations

Carrie L. Welch, Christian Mosimann, Katarzyna Bzdęga, James West, David Montani +16 more

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

Genes & Diseases(2022)10.1016/j.gendis.2022.05.002

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21 citations

Tadeusz Majewski, Esra Yıldız Bölükbaşı, Tomasz Gambin, Justyna A. Karolak, Nahir Cortes‐Santiago +5 more

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)10.1165/rcmb.2021-0470le

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12 citations

Gail Deutsch, Tomasz Gambin, Przemyslaw Szafranski, Edwina J. Popek, Paweł Stankiewicz +1 more

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)10.1002/mgg3.2062

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6 citations

Justyna A. Karolak, Przemysław Szafrański, Tomasz Gambin, Nicholas Willard, Steven H. Abman +4 more

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

European Journal of Medical Genetics(2022)10.1016/j.ejmg.2022.104519

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5 citations

Justyna A. Karolak, Tomasz Gambin, Przemysław Szafrański, Gail Deutsch, Paweł Stankiewicz +1 more

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

American Journal of Respiratory and Critical Care Medicine(2023)10.1164/rccm.202210-2015oc

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37 citations

Kathryn A. Wikenheiser‐Brokamp, Joseph A. Kitzmiller, Cheng Jiang, Guolun Wang, Allen Wang +15 more

Diminished TMEM 100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant: A Case Report

Pediatric and Developmental Pathology(2023)10.1177/10935266231213464

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6 citations

Silvia Patrizi, Tomasz Gambin, Bushra Afzal, Emily Schlotterbeck, Justyna A. Karolak +4 more