Tomasz Gambin

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

Levi B. Watkin, Birthe Jessen, Wojciech Wiszniewski et al. · Nature Genetics · 2015 · 399 citations · Full text

Life Sciences, Genetics, Molecular Genetics +11

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

Shinya Yamamoto, Manish Jaiswal, Wu‐Lin Charng et al. · Cell · 2014 · 396 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

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

Ender Karaca, Tamar Harel, Davut Pehli̇van et al. · Neuron · 2015 · 340 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Primary immunodeficiency diseases: Genomic approaches delineate heterogeneous Mendelian disorders

Asbjørg Stray‐Pedersen, Hanne Sørmo Sorte, Pubudu Samarakoon et al. · Journal of Allergy and Clinical Immunology · 2016 · 280 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

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

Claudia Gonzaga‐Jauregui, Tamar Harel, Tomasz Gambin et al. · Cell Reports · 2015 · 247 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17