Researchclopedia

Research Researchers Institutions Topics Submit About

Command Palette

Search for a command to run...

Researchclopedia

Research Researchers Institutions About

© 2026 Researchclopedia. Powered by OpenAlex under CC0 license.

Tomasz Gambin | Researchclopedia

Back to researchers

Tomasz Gambin

Warsaw University of Technology ORCID

213

Works

8,908

Citations

49

h-index

105

i10-index

Research Topics

Genomic variations and chromosomal abnormalities Genomics and Rare Diseases Congenital heart defects research

Affiliations

Warsaw University of Technology2007–2026

Baylor College of Medicine2010–2022

University of Washington2014–2014

Helsinki Institute for Information Technology2013–2013

Institute of Computer Science2007–2026

Top Works

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

Jessica X. Chong,Kati J. Buckingham,et al.

2015685 citations

Chromosomal and Genetic Variations

Genetics and Neurodevelopmental Disorders

A Drosophila Genetic Resource of Mutants to Study Mechanisms Underlying Human Genetic Diseases

Shinya Yamamoto,Manish Jaiswal,et al.

2014391 citations

COPA mutations impair ER-Golgi transport and cause hereditary autoimmune-mediated lung disease and arthritis

Levi B. Watkin,Birthe Jessen,et al.

2015390 citations

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease

Ender Karaca,Tamar Harel,et al.

2015333 citations

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Asbjørg Stray‐Pedersen,Hanne Sørmo Sorte,et al.

2016273 citations

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy

Claudia Gonzaga‐Jauregui,Tamar Harel,et al.

2015245 citations

Molecular diagnostic experience of whole-exome sequencing in adult patients

Jennifer E. Posey,Jill A. Rosenfeld,et al.

2015239 citations

Detection of clinically relevant exonic copy-number changes by array CGH

Philip M. Boone,Carlos A. Bacino,et al.

2010238 citations

Lessons learned from additional research analyses of unsolved clinical exome cases

Mohammad K. Eldomery,Zeynep Coban‐Akdemir,et al.

2017232 citations