Marta Ježová

Novel<i>FOXF1</i>Mutations in Sporadic and Familial Cases of Alveolar Capillary Dysplasia with Misaligned Pulmonary Veins Imply a Role for its DNA Binding Domain

Partha Sen, Yaping Yang, Iris A. L. Silva et al. · Human Mutation · 2013 · 127 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Personalized Treatment of H3K27M-Mutant Pediatric Diffuse Gliomas Provides Improved Therapeutic Opportunities

Johannes Gojo, Zdeněk Pavelka, Danica Zapletalová et al. · Frontiers in Oncology · 2020 · 87 citations · Full text

Medicine, Molecular Medicine, Oncology +17

Case report: rapid and durable response to PDGFR targeted therapy in a child with refractory multiple infantile myofibromatosis and a heterozygous germline mutation of the PDGFRB gene

Peter Múdry, Ondřej Slabý, Jakub Neradil et al. · BMC Cancer · 2017 · 69 citations · Full text

Medicine, Oncology, Pediatrics +17

A familial case of alveolar capillary dysplasia with misalignment of pulmonary veins supports paternal imprinting of FOXF1 in human

Partha Sen, Romana Gerychová, Petr Janků et al. · European Journal of Human Genetics · 2012 · 50 citations · Full text

Medicine, Genetics, Molecular Genetics +15

Association of rare non-coding SNVs in the lung-specific FOXF1 enhancer with a mitigation of the lethal ACDMPV phenotype

Przemysław Szafrański, Qian Liu, Justyna A. Karolak et al. · Human Genetics · 2019 · 32 citations · Full text

Life Sciences, Genetics, Molecular Genetics +5