Paweł Stankiewicz

Biochemistry, Genetics and Molecular BiologyAgricultural and Biological Sciences

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 6%percentile

0.269Author DataRank

Indexed papers

2in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Why this DataRank?

An author's DataRank is the sum of the DataRanks of all 2 indexed papers attributed to them. A prolific author with many moderate-impact papers can outrank one with a single high-impact paper.

Author scores recompute whenever paper DataRanks are refreshed, so this number lags the underlying paper scores by at most one batch run.

Read the full methodology →

The highest-impact dataset this researcher has shared, ranked by DataRank — the single contribution doing the most to lift their data-sharing standing.

Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes

Genome Medicine(2025)10.1186/s13073-025-01563-0

Top 58%

0.269DataRank

Top 58%5 citations

Eleanor I. Sams, Rachel Slaugh, Sandra Crocker, Emily Cordova Hurtado, Sophia Tracy +66 more

Papers

Driven by 31 papers — median percentile 42. Top paper: “Molecular Function and Contribution of TBX4 in Development and Disease”.

Molecular Function and Contribution of TBX4 in Development and Disease

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

N/A

0.557DataRank · unranked

40 citations

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

N/A

0.385DataRank · unranked

12 citations

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

Whole-genome sequencing reveals individual and cohort level insights into chromosome 9p syndromes

Genome Medicine(2025)10.1186/s13073-025-01563-0

Top 58%

0.269DataRank

Top 58%5 citations

Eleanor I. Sams, Rachel Slaugh, Sandra Crocker, Emily Cordova Hurtado, Sophia Tracy +66 more

The genomic basis of medicine

Oxford Textbook of Medicine(2020)10.1093/med/9780198746690.003.0030

N/A

0.104DataRank · unranked

1 citations

James R. Lupski, Paweł Stankiewicz

Highly Variable Expressivity of a CNV Deletion Involving TBX4 in Three Deceased Siblings With Lung Developmental Disorder and Their Mildly Affected Mother and Grandfather

Clinical Genetics(2025)10.1111/cge.70010

N/A

0.104DataRank · unranked

1 citations

Tomasz Gambin, Michał Kadlof, Michał Denkiewicz, Dariusz Plewczyński, Hyun Jeong Kim +5 more

Faculty Opinions recommendation of Recovering signals of ghost archaic introgression in African populations.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature(2020)10.3410/f.737361910.793574278

N/A

0DataRank · unranked

0 citations

Paweł Stankiewicz

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

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

N/A

0DataRank · unranked

35 citations

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

Detection of low-level parental somatic mosaicism for clinically relevant SNVs and indels identified in a large exome sequencing dataset

Human Genomics(2021)10.1186/s40246-021-00369-6

N/A

0DataRank · unranked

33 citations

Tomasz Gambin, Roni Zemet, Chung Wah Wu, Katharina Schulze, Yaping Yang +5 more

Lung‐specific distant enhancer cis regulates expression ofFOXF1and lncRNAFENDRR

Human Mutation(2021)10.1002/humu.24198

N/A

0DataRank · unranked

32 citations

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

Haploinsufficiency of the Sin3/HDAC corepressor complex member SIN3B causes a syndromic intellectual disability/autism spectrum disorder

The American Journal of Human Genetics(2021)10.1016/j.ajhg.2021.03.017

N/A

0DataRank · unranked

32 citations

Marie Vincent, Alice Mollé, Oluwadamilare A. Adebambo, Cynthia Fourgeux, Tahir Naeem Khan +41 more

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

N/A

0DataRank · unranked

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

N/A

0DataRank · unranked

8 citations

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

Detection of Low-Level Parental Somatic Mosaicism for Clinically Relevant Snvs and Indels Identified in a Large Exome Sequencing Dataset

Research Square(2021)10.21203/rs.3.rs-1020672/v1

N/A

0DataRank · unranked

1 citations

Tomasz Gambin, Roni Zemet, Chung Wah Wu, Katharina Schulze, Yaping Yang +5 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

N/A

0DataRank · unranked

26 citations

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

N/A

0DataRank · unranked

21 citations

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

N/A

0DataRank · unranked

30 citations

Tomasz Gambin, Engela Honey, Tomáš Slavík, 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

N/A

0DataRank · unranked

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

N/A

0DataRank · unranked

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

N/A

0DataRank · unranked

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

N/A

0DataRank · unranked

6 citations

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

SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia

Human Genetics(2023)10.1007/s00439-023-02550-4

N/A

0DataRank · unranked

2 citations

Haowei Du, Tomasz Gambin, James R. Lupski, Pengfei Liu, Paweł Stankiewicz +1 more

Histologic features and decreased lung FOXF1 gene expression in severe bronchopulmonary dysplasia without a genetic diagnosis of alveolar capillary dysplasia

Pediatric Pulmonology(2023)10.1002/ppul.26571

N/A

0DataRank · unranked

2 citations

J. Wells Logan, Paweł Stankiewicz, Przemysław Szafrański, Carola Zalles, José L. Gonzáles +4 more

A Small De Novo CNV Deletion of the Paternal Copy of FOXF1, Leaving lncRNA FENDRR Intact, Provides Insight into Their Bidirectional Promoter Region

Non-Coding RNA(2023)10.3390/ncrna9050061

N/A

0DataRank · unranked

2 citations

Paweł Stankiewicz, Przemysław Szafrański

Further refinement of the differentially methylated distant lung-specific FOXF1 enhancer in a neonate with alveolar capillary dysplasia

Clinical Epigenetics(2023)10.1186/s13148-023-01587-6

N/A

0DataRank · unranked

2 citations

Rijutha P. Garimella, Haresh Mani, Ryan Hartman, Gail Deutsch, Alan Silk +3 more

Histologic Features and Decreased Lung FOXF1 Gene Expression in Severe Bronchopulmonary Dysplasia without a Genetic Diagnosis of Alveolar Capillary Dysplasia

(2023)10.22541/au.167635992.24578122/v1

N/A

0DataRank · unranked

0 citations

Csaba Galambos, J. Wells Logan, Paweł Stankiewicz, Przemysław Szafrański, Carola Zalles +4 more

SNV/indel hypermutator phenotype in biallelic RAD51C variant - Fanconi anemia

Research Square(2023)10.21203/rs.3.rs-2628288/v1

N/A

0DataRank · unranked

0 citations

Haowei Du, Tomasz Gambin, Pengfei Liu, James R. Lupski, Paweł Stankiewicz +1 more

Dysregulation of miRNA expression and excitation in MEF2C autism patient hiPSC-neurons and cerebral organoids

Molecular Psychiatry(2024)10.1038/s41380-024-02761-9

N/A

0DataRank · unranked

15 citations

Swagata Ghatak, Michael Bula, James Parker, Maria Talantova, Melissa Luevanos +25 more

The Glu86 Residue in TBX4 Proves Critical for Human Lung Development

American Journal of Medical Genetics Part A(2024)10.1002/ajmg.a.63936

N/A

0DataRank · unranked

2 citations

Tomasz Gambin, Gail Deutsch, Salma Nassef, Mary Clay Bailey, Debra L. Kearney +2 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

N/A

0DataRank · unranked

18 citations

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

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

N/A

0DataRank · unranked

63 citations

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

Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications

UNC Libraries(2020)10.17615/dqyv-bh72

N/A

0DataRank · unranked

2 citations

Patricia A. Eng, M. Lance Cooper, Jonathan S. Berg, Marwan Shinawi, Weimin He +17 more

Paweł Stankiewicz

Indexed papers

Top data-sharing exemplar

Papers