Tomek Gambin
7PUBLICATIONS
50CO-AUTHORS
Get your video featured.
Publish with JoVEGet your video featured.
Publish with JoVE
Publications (7)
Sort by Publication Date:
|Dec 28, 2023
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data.Haowei Du, Zain Dardas, Angad Jolly
|Dec 14, 2022
Cloud-native distributed genomic pileup operations.Marek Wiewiórka, Agnieszka Szmurło, Paweł Stankiewicz
|Sep 20, 2022
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.Esra Yıldız Bölükbaşı, Justyna A Karolak, Przemyslaw Szafranski
|Jan 25, 2022
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.Esra Yıldız Bölükbaşı, Justyna A Karolak, Przemyslaw Szafranski
|May 30, 2019
Comparison of kNN and k-means optimization methods of reference set selection for improved CNV callers performance.Wiktor Kuśmirek, Agnieszka Szmurło, Marek Wiewiórka
|Dec 20, 2018
A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic PolyneuropathyJoanna Oswiecimska, Mateusz Dawidziuk, Tomasz Gambin
Pageof 2
Frequent Collaborators
2 joint publications
Paweł Stankiewicz
2 joint publications
Przemyslaw Szafranski
2 joint publications
Justyna A Karolak
2 joint publications
James R. Lupski
2 joint publications
Esra Yıldız Bölükbaşı
1 joint publications
Mateusz Dawidziuk
1 joint publications
Katarzyna Ziora
1 joint publications
Dolores J Lamb
1 joint publications
Sylwia Rzonca
1 joint publications
D. Lys Guilbride
