Tomasz Gambin (Tomek Gambin)

Scopus Author ID ORCID

Publication Activity (10 Years)

Years Active: 2016-2024
Publications (10 Years): 13

Top Topics

Pseudomonas Aeruginosa

Top Venues

Nucleic acids research

Bioinformatics (Oxford, England)

BMC bioinformatics

Molecular genetics & genomic medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Cláudia M B Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R. Lupski
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic acids research 52 (4) (2024)
Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Cláudia M B Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R. Lupski
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic acids research 52 (4) (2024)
Marek Wiewiórka, Agnieszka Szmurło, Paweł Stankiewicz, Tomasz Gambin
Cloud-native distributed genomic pileup operations. Bioinformatics (Oxford, England) 39 (1) (2023)
Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Cláudia M B Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R. Lupski
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic acids research (2023)
Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Cláudia M B Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R. Lupski
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic acids research (2023)
Marek Wiewiórka, Agnieszka Szmurło, Paweł Stankiewicz, Tomasz Gambin
Cloud-native distributed genomic pileup operations. Bioinformatics (Oxford, England) 39 (1) (2023)
Marek Wiewiórka, Agnieszka Szmurło, Paweł Stankiewicz, Tomasz Gambin
Cloud-native distributed genomic pileup operations. Bioinformatics (Oxford, England) 39 (1) (2023)
Haowei Du, Zain Dardas, Angad Jolly, Christopher M Grochowski, Shalini N Jhangiani, He Li, Donna Muzny, Jawid M Fatih, Gozde Yesil, Nursel H Elçioglu, Alper Gezdirici, Dana Marafi, Davut Pehlivan, Daniel G Calame, Cláudia M B Carvalho, Jennifer E Posey, Tomasz Gambin, Zeynep Coban-Akdemir, James R. Lupski
HMZDupFinder: a robust computational approach for detecting intragenic homozygous duplications from exome sequencing data. Nucleic acids research (2023)
Esra Yıldız-Bölükbaşı, Justyna A Karolak, Przemyslaw Szafranski, Tomasz Gambin, Omer Murik, David A Zeevi, Gheona Altarescu, Przemyslaw Szafranski
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 188 (5) (2022)
Esra Yıldız-Bölükbaşı, Justyna A Karolak, Przemyslaw Szafranski, Tomasz Gambin, Nicholas Willard, Steven H Abman, Csaba Galambos, John P Kinsella, Przemyslaw Szafranski
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 10 (11) (2022)
Wiktor Kuśmirek, Agnieszka Szmurło, Marek Wiewiórka, Robert Nowak, Tomasz Gambin
Comparison of kNN and k-means optimization methods of reference set selection for improved CNV callers performance. BMC bioinformatics 20 (1) (2019)
Joanna Oświęcimska, Mateusz Dawidziuk, Tomasz Gambin, Katarzyna Ziora, Marta Marek, Sylwia Rzonca-Niewczas, D. Lys Guilbride, Shalini N. Jhangiani, Anna Obuchowicz, Alicja Sikora, James R. Lupski, Wojciech Wiszniewski, Paweł Gawliński
A Patient with Berardinelli-Seip Syndrome, Novel AGPAT2 Splicesite Mutation and Concomitant Development of Non-diabetic Polyneuropathy Journal of clinical research in pediatric endocrinology 11 (3) (2018)
Mir Reza Bekheirnia, Nasim Bekheirnia, Matthew N Bainbridge, Shen Gu, Zeynep Hande Coban Akdemir, Tomasz Gambin, Nicolette K Janzen, Shalini N Jhangiani, Donna M Muzny, Mini Michael, Eileen D Brewer, Ewa Elenberg, Arundhati S Kale, Alyssa A Riley, Sarah J Swartz, Daryl A Scott, Yaping Yang, Poyyapakkam R Srivaths, Scott E Wenderfer, Joann Norma Bodurtha, Carolyn D Applegate, Milen Velinov, Angela Myers, Lior Borovik, William J Craigen, Neil A Hanchard, Jill Anne Rosenfeld, Richard Alan Lewis, Edmond T Gonzales, Richard A Gibbs, John W Belmont, David R Roth, Christine Eng, Michael C Braun, James R Lupski, Dolores J Lamb
Whole-exome sequencing in the molecular diagnosis of individuals with congenital anomalies of the kidney and urinary tract and identification of a new causative gene. Genetics in medicine : official journal of the American College of Medical Genetics 19 (4) (2016)