Tomasz Gambin

Warsaw University of Technology — Poland

Biochemistry, Genetics and Molecular Biology · Life Sciences

49h-index8.8kcitations192works1.52yr avg
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Research Topics

Genomic variations and chromosomal abnormalities(55), Genomics and Rare Diseases(45), Congenital heart defects research(28), Chromosomal and Genetic Variations(20), RNA modifications and cancer(17)

Publications190 total

polars-bio—fast, scalable, and out-of-core operations on large genomic interval datasets
Bioinformatics·2025Open Access
Ataxia and oculomotor apraxia caused by a large-scale deletion in the senataxin gene
Journal of Applied Genetics·2025Open Access
Highly Variable Expressivity of a <scp>CNV</scp> Deletion Involving <scp> <i>TBX4</i> </scp> in Three Deceased Siblings With Lung Developmental Disorder and Their Mildly Affected Mother and Grandfather
Clinical Genetics·2025Open Access
polars-bio – fast, scalable and out-of-core operations on large genomic interval datasets
2025Open Access
Meta-analysis of RNA-seq gene fusion detection tools: performance and variability across benchmarks
2025Open Access
The Glu86 Residue in <scp>TBX4</scp> Proves Critical for Human Lung Development
American Journal of Medical Genetics Part A·2024· 1 citedOpen Access
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings
Orphanet Journal of Rare Diseases·2024· 1 citedOpen Access
playOmics: A multi-omics pipeline for interpretable predictions and biomarker discovery
2024· 4 citedOpen Access
Molecular analysis of inherited disorders of cornification in Polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
2024Open Access
The impact of the Turkish population variome on the genomic architecture of rare disease traits
Genetics in Medicine Open·2024· 9 citedOpen Access
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data
Nucleic Acids Research·2023· 8 citedOpen Access
Diminished <i>TMEM</i>100 Expression in a Newborn With Acinar Dysplasia and a Novel <i>TBX4</i> Variant: A Case Report
Pediatric and Developmental Pathology·2023· 5 citedOpen Access
Genetyka medyczna i molekularna
Wydawnictwo Naukowe PWN eBooks·2023· 2 citedOpen Access
SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia
Human Genetics·2023· 1 citedOpen Access
Coexisting Conditions Modifying Phenotypes of Patients with 22q11.2 Deletion Syndrome
Genes·2023· 9 citedOpen Access
SNV/indel hypermutator phenotype in biallelic RAD51C variant - Fanconi anemia
Research Square (Research Square)·2023Open Access
Cloud-native distributed genomic pileup operations
Bioinformatics·2022· 1 citedOpen Access
Loss-of-function variant in the chymotrypsin like elastase 3B (CELA3B) predispose to non-alcoholic chronic pancreatitis
Pancreatology·2022
High‐level gonosomal mosaicism for a pathogenic non‐coding <scp>CNV</scp> deletion of the lung‐specific <i>FOXF1</i> enhancer in an unaffected mother of an infant with <scp>ACDMPV</scp>
Molecular Genetics & Genomic Medicine·2022· 5 citedOpen Access
Cloud-native distributed genomic pileup operations
2022Open Access
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Frequent Co-authors

James R. Lupski(42), Shalini N. Jhangiani(32), Richard A. Gibbs(26), Eric Boerwinkle(21), Paweł Stankiewicz(18), Chad A. Shaw(17), Donna M. Muzny(14), Donna M. Muzny(14), Zeynep Coban‐Akdemir(14), Ender Karaca(13), Yaping Yang(11), Carlos A. Bacino(11), Ankita Patel(11), Wojciech Wiszniewski(10), Claudia Gonzaga‐Jauregui(10), Bo Yuan(10), Christine M. Eng(10), Arthur L. Beaudet(10), Jill A. Rosenfeld(10), Zeynep H. Coban Akdemir(9)