Tomasz Gambin
Politechnika Warszawska
H-index: 48
Europe-Poland
Top articles of Tomasz Gambin
Title | Journal | Author(s) | Publication Date |
|---|---|---|---|
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data | Nucleic Acids Research | Haowei Du Zain Dardas Angad Jolly Christopher M Grochowski Shalini N Jhangiani | 2024/2/28 |
playOmics: A multi-omics pipeline for interpretable predictions and biomarker discovery | bioRxiv | Jagoda Glowacka-Walas Kamil Sijko Konrad Wojdan Tomasz Lech Gambin | 2024 |
Coexisting conditions modifying phenotypes of patients with 22q11. 2 Deletion Syndrome | Genes | Marta Smyk Maciej Geremek Kamila Ziemkiewicz Tomasz Gambin Anna Kutkowska-Kaźmierczak | 2023/3/9 |
The impact of the Turkish population variome on the genomic architecture of rare disease traits | Genetics in Medicine Open | Zeynep Coban-Akdemir Xiaofei Song Francisco C Ceballos Davut Pehlivan Ender Karaca | 2024/1/1 |
Molecular analysis of inherited disorders of cornification in Polish patients show novel variants and functional data and provokes questions on the significance of secondary … | Katarzyna Wertheim-Tysarowska Katarzyna Osipowicz Katarzyna Woźniak Justyna Sawicka Adrianna Mika | 2024/3/11 | |
Bioinformatyka | Tomasz Gambin Robert Marek Nowak | 2023 | |
Complex compound inheritance in a four-generation ACDMPV family | European Journal of Human Genetics | Esra Yıldız Bölükbaşı Justyna A Karolak Tomasz Gambin Przemyslaw Szafranski Admire Matsika | 2023 |
Cloud-native distributed genomic pileup operations | Bioinformatics | Marek Wiewiórka Agnieszka Szmurło Paweł Stankiewicz Tomasz Gambin | 2023/1/1 |
Diminished TMEM100 Expression in a Newborn With Acinar Dysplasia and a Novel TBX4 Variant: A Case Report | Pediatric and Developmental Pathology | Przemyslaw Szafranski Silvia Patrizi Tomasz Gambin Bushra Afzal Emily Schlotterbeck | 2023/12/3 |
SNV/indel hypermutator phenotype in biallelic RAD51C variant: Fanconi anemia | Human Genetics | Roni Zemet Haowei Du Tomasz Gambin James R Lupski Pengfei Liu | 2023/6 |
O sztucznej inteligencji | Jarosław Chudziak Tomasz Gambin Piotr Gawrysiak Mieczysław Muraszkiewicz | 2022 | |
Do paternal deletions involving the FOXF1 locus on chromosome 16q24. 1 manifest with more severe non-lung anomalies? | European journal of medical genetics | Esra Yıldız Bölükbaşı Justyna A Karolak Tomasz Gambin Przemyslaw Szafranski Gail H Deutsch | 2022/6/1 |
Ultra-conserved non-coding sequences within the FOXF1 enhancer are critical for human lung development | Genes & Diseases | Przemyslaw Szafranski Tadeusz Majewski Esra Yıldız Bölükbaşı Tomasz Gambin Justyna A Karolak | 2022/11 |
Variants in the pancreatic CUB and zona pellucida-like domains 1 (CUZD1) gene in early-onset chronic pancreatitis-A possible new susceptibility gene | Pancreatology | Agnieszka Magdalena Rygiel Lara Sophie Unger Franziska Lena Sörgel Emmanuelle Masson Ryotaro Matsumoto | 2022/6/1 |
Variable expressivity in a four-generation ACDMPV family with a non-coding hypermorphic SNV in trans to the frameshifting FOXF1 variant | European Journal of Human Genetics | Esra Yıldız Bölükbaşı Justyna A Karolak Przemyslaw Szafranski Tomasz Gambin Admire Matsika | 2022/10 |
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 | American Journal of Medical Genetics Part A | Esra Yıldız Bölükbaşı Justyna A Karolak Przemyslaw Szafranski Tomasz Gambin Omer Murik | 2022/5 |
Loss-of-function variant in chymotrypsin like elastase 3B (CELA3B) is associated with non-alcoholic chronic pancreatitis | Pancreatology | Andrea Tóth Alexandra Demcsák Florence Zankl Grzegorz Oracz Lara Sophie Unger | 2022/9/1 |
The Thousand Polish Genomes—a database of Polish variant allele frequencies | International Journal of Molecular Sciences | Elżbieta Kaja Adrian Lejman Dawid Sielski Mateusz Sypniewski Tomasz Gambin | 2022/4/20 |
Postzygotic mutations and where to find them–Recent advances and future implications in the field of non-neoplastic somatic mosaicism | Krystyna Wasilewska Tomasz Gambin Małgorzata Rydzanicz Krzysztof Szczałuba Rafał Płoski | 2022/7/1 | |
Loss-of-function variant in the chymotrypsin like elastase 3B (CELA3B) predispose to non-alcoholic chronic pancreatitis | Pancreatology | A Tóth A Demcsák F Zankl G Oracz LS Unger | 2022/11/15 |
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