George A. Diaz
Affiliations: | Icahn School of Medicine at Mount Sinai, New York, NY, United States |
Area:
Cell Biology, GeneticsGoogle:
"George Diaz"Children
Sign in to add trainee| Melissa C. Huang | grad student | 2007 | Mount Sinai School of Medicine |
| Andrew L. O'Shaughnessy | grad student | 2009 | Mount Sinai School of Medicine |
| Audrey C. Au | grad student | 2012 | Mount Sinai |
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Publications
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| Imagawa E, Konuma T, Cork EE, et al. (2020) A novel missense variant in RBM10 can cause a mild form of TARP syndrome with developmental delay and dysmorphic features. Clinical Genetics |
| Imagawa E, Diaz GA, Oishi K. (2020) A novel Romani microdeletion variant in the promoter sequence of causes citrullinemia type I. Molecular Genetics and Metabolism Reports. 24: 100619 |
| Larson AA, Balasubramaniam S, Christodoulou J, et al. (2018) Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6. Mitochondrion |
| Vockley J, Charrow J, Ganesh J, et al. (2016) Triheptanoin treatment in patients with pediatric cardiomyopathy associated with long chain-fatty acid oxidation disorders. Molecular Genetics and Metabolism |
| Shi L, Webb BD, Birch AH, et al. (2016) Comprehensive population screening in the Ashkenazi Jewish population for recurrent disease-causing variants. Clinical Genetics |
| Zhang J, Lachance V, Schaffner A, et al. (2016) A Founder Mutation in VPS11 Causes an Autosomal Recessive Leukoencephalopathy Linked to Autophagic Defects. Plos Genetics. 12: e1005848 |
| Chen R, Shi L, Hakenberg J, et al. (2016) Analysis of 589,306 genomes identifies individuals resilient to severe Mendelian childhood diseases. Nature Biotechnology |
| Webb BD, Wheeler PG, Hagen JJ, et al. (2015) Novel, compound heterozygous, single-nucleotide variants in MARS2 associated with developmental delay, poor growth, and sensorineural hearing loss. Human Mutation. 36: 587-92 |
| Auer PL, Teumer A, Schick U, et al. (2014) Rare and low-frequency coding variants in CXCR2 and other genes are associated with hematological traits. Nature Genetics. 46: 629-34 |
| Webb BD, Brandt T, Liu L, et al. (2014) A founder mutation in COL4A3 causes autosomal recessive Alport syndrome in the Ashkenazi Jewish population. Clinical Genetics. 86: 155-60 |