Tomasz Gambin

Also affiliated with Institute of Computer Science

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 100%percentile

0Author DataRank

Indexed papers

0in pilot corpus

datarank_citation_only_1hop_v6· scope data_onlyMethodology

Papers

Driven by 20 papers. Top paper: “The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities”.

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

The American Journal of Human Genetics(2015)10.1016/j.ajhg.2015.06.009

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0.980DataRank · unranked

687 citations

Kati J. Buckingham, Shalini N. Jhangiani, Corinne Boehm, Nara Sobreira, Joshua D. Smith +46 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

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0DataRank · unranked

63 citations

Qian Liu, Justyna A. Karolak, Christopher M. Grochowski, Nina Guanyi Xie, Lucia R. Wu +16 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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0DataRank · unranked

30 citations

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

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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

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0DataRank · unranked

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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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

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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

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0DataRank · unranked

1 citations

Tomasz Gambin, Roni Zemet, Chung Wah Wu, Katharina Schulze, Yaping Yang +5 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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0DataRank · unranked

21 citations

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

Loss-of-function variant in chymotrypsin like elastase 3B (CELA3B) is associated with non-alcoholic chronic pancreatitis

Pancreatology(2022)10.1016/j.pan.2022.06.258

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0DataRank · unranked

15 citations

Alexandra Demcsák, Florence Zankl, Grzegorz Oracz, Lara Unger, Peter Bugert +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

0DataRank · unranked

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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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

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0DataRank · unranked

5 citations

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

HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data

Nucleic Acids Research(2023)10.1093/nar/gkad1223

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0DataRank · unranked

10 citations

Zain Dardas, Angad Jolly, Christopher M. Grochowski, Shalini N. Jhangiani, He Li +14 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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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

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0DataRank · unranked

2 citations

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

The Glu86 Residue in TBX4 Proves Critical for Human Lung Development

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

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0DataRank · unranked

2 citations

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

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

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0DataRank · unranked

1 citations

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