Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia
Sankaran, Vijay G., Ghazvinian, Roxanne, Do, Ron, Thiru, Prathapan, Vergilio, Jo-Anne, Beggs, Alan H., Sieff, Colin A., Orkin, Stuart H., Nathan, David G., Lander, Eric S., Gazda, Hanna T.·2012·Journal of Clinical Investigation
DOI 10.1172/jci63597
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- What’s in a name?Mitchell J. Weiss, Philip J. Mason, Monica Bessler · 2012 · Journal of Clinical Investigation
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- Next generation sequencing in cardiomyopathy: towards personalized genomics and medicineAmitabh Biswas, Vadlamudi Raghavendra Rao, Sandeep Seth, SK Maulik · 2014 · Molecular Biology Reports
- Oncogenic Gata1 causes stage-specific megakaryocyte differentiation delayGaëtan Juban, Nathalie Sakakini, Hédia Chagraoui, David Cruz Hernandez, Qian Cheng, Kelly Soady, Bilyana Stoilova, Catherine Garnett, Dominic Waithe, Georg Otto et al. · 2020 · Haematologica
- Clinical Medicine Insights: Blood Disorders2016 · Clinical Medicine Insights Blood Disorders
- Evolution of myeloid leukemia in children with Down syndromeSatoshi Saida · 2016 · International Journal of Hematology
- Synergistic roles of DYRK1A and GATA1 in trisomy 21 megakaryopoiesisYing Ting Sit, Kaoru Takasaki, Hyun Hyung An, Yan Xiao, Christian Hurtz, Peter A. Gearhart, Zhe Zhang, Paul J. Gadue, Deborah L. French, Stella T. Chou · 2023 · JCI Insight
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- Fetal hydrops – a review and a clinical approach to identifying the causeEsther Dempsey, Tessa Homfray, John M. Simpson, Steve Jeffery, Sahar Mansour, Pia Østergaard · 2020 · Expert Opinion on Orphan Drugs
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- Modeling Human Bone Marrow Failure Syndromes Using Pluripotent Stem Cells and Genome EngineeringMoonjung Jung, Cynthia E. Dunbar, Thomas Winkler · 2015 · Molecular Therapy
- GATA1 and PU.1 Bind to Ribosomal Protein Genes in Erythroid Cells: Implications for RibosomopathiesElsa P. Amanatiadou, Giorgio Lucio Papadopoulos, John Strouboulis, Ioannis S. Vizirianakis · 2015 · PLoS ONE
- A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc FingerJosé María Bastida, Stefano Malvestiti, Doris Boeckelmann, Verónica Palma‐Barqueros, Mira Wolter, Marı́a Luisa Lozano, Hannah Glonnegger, Rocío Benito, Carlo Zaninetti, Felix Sobotta et al. · 2022 · Cells
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- A Child With Dyserythropoietic Anemia and Megakaryocyte Dysplasia Due to a Novel 5′UTRGATA1sSplice MutationJacob P. Zucker, Constance J. Temm, Magdalena Czader, Grzegorz Nalepa · 2015 · Pediatric Blood & Cancer
- Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutationsEdoardo Errichiello, Annalisa Vetro, Tommaso Mina, Anita Wischmeijer, Enrico Berrino, Miriam Carella, Maria Romagnoli, Patrizia Sacchini, Tiziana Venesio, Marco Zecca et al. · 2017 · Blood Cells Molecules and Diseases
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