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Hakon Hakonarson, M.D., PhD

Affiliations: 
Children’s Hospital of Philadelphia / University of Pennsylvania, Philadelphia, PA, United States 
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Li YR, Glessner JT, Coe BP, et al. (2020) Rare copy number variants in over 100,000 European ancestry subjects reveal multiple disease associations. Nature Communications. 11: 255
Chang X, Zhao Y, Hou C, et al. (2017) Common variants in MMP20 at 11q22.2 predispose to 11q deletion and neuroblastoma risk. Nature Communications. 8: 569
Li D, Bhoj E, McCormick E, et al. (2016) Early Infantile Epileptic Encephalopathy in an STXBP1 Patient with Lactic Acidemia and Normal Mitochondrial Respiratory Chain Function. Case Reports in Genetics. 2016: 4140780
Cofer ZC, Cui S, EauClaire SF, et al. (2016) Methylation Microarray Studies Highlight PDGFA Expression as a Factor in Biliary Atresia. Plos One. 11: e0151521
Desai A, Connolly JJ, March M, et al. (2016) Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant. Bmc Musculoskeletal Disorders. 17: 80
Guo Y, Wei Z, Keating BJ, et al. (2016) Machine learning derived risk prediction of anorexia nervosa. Bmc Medical Genomics. 9: 4
Wenger TL, Kao C, McDonald-McGinn DM, et al. (2016) The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder. Scientific Reports. 6: 19372
Chang X, Glessner J, Tin A, et al. (2015) Genome-wide association study reveals two loci for serum magnesium concentrations in European-American children. Scientific Reports. 5: 18792
De R, Verma SS, Drenos F, et al. (2015) Identifying gene-gene interactions that are highly associated with Body Mass Index using Quantitative Multifactor Dimensionality Reduction (QMDR). Biodata Mining. 8: 41
Li YR, Zhao SD, Li J, et al. (2015) Genetic sharing and heritability of paediatric age of onset autoimmune diseases. Nature Communications. 6: 8442
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