Publications

Scientific discovery in the age of artificial intelligence.

Wang H, Fu T, Du Y, et al. Scientific discovery in the age of artificial intelligence. Nature. 2023;620(7972):47-60. doi:10.1038/s41586-023-06221-2

Severe congenital neutropenia due to jagunal homolog 1 () mutation: a case report and literature review.

Thomas S, Guenther G, Rowe JH, et al. Severe congenital neutropenia due to jagunal homolog 1 () mutation: a case report and literature review. Frontiers in pediatrics. 2023;11:1223191. doi:10.3389/fped.2023.1223191

RASopathies and cardiac manifestations.

Hilal N, Chen Z, Chen MH, Choudhury S. RASopathies and cardiac manifestations. Frontiers in cardiovascular medicine. 2023;10:1176828. doi:10.3389/fcvm.2023.1176828

Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer.

Mukamel RE, Handsaker RE, Sherman MA, et al. Repeat polymorphisms underlie top genetic risk loci for glaucoma and colorectal cancer. Cell. 2023. doi:10.1016/j.cell.2023.07.002

A Genetic Locus within the FMN1/GREM1 Gene Region Interacts with Body Mass Index in Colorectal Cancer Risk.

Aglago EK, Kim A, Lin Y, et al. A Genetic Locus within the FMN1/GREM1 Gene Region Interacts with Body Mass Index in Colorectal Cancer Risk. Cancer research. 2023;83(15):2572-2583. doi:10.1158/0008-5472.CAN-22-3713

A diverse ancestrally-matched reference panel increases genotype imputation accuracy in a underrepresented population.

Mauleekoonphairoj J, Tongsima S, Khongphatthanayothin A, et al. A diverse ancestrally-matched reference panel increases genotype imputation accuracy in a underrepresented population. Scientific reports. 2023;13(1):12360. doi:10.1038/s41598-023-39429-3

A comprehensive genomic study of 390 H3F3A-mutant pediatric and adult diffuse high-grade gliomas, CNS WHO grade 4.

Williams EA, Brastianos PK, Wakimoto H, et al. A comprehensive genomic study of 390 H3F3A-mutant pediatric and adult diffuse high-grade gliomas, CNS WHO grade 4. Acta neuropathologica. 2023. doi:10.1007/s00401-023-02609-6

Aspirin 15cH has Different Effects on Morphology and Function of Lipopolysaccharide-Challenged RAW 264.7 Macrophages In Vitro Compared to a Pharmacological Dose of Aspirin.

von Ancken AC, de Medeiros NSS, Perdomo SK, et al. Aspirin 15cH has Different Effects on Morphology and Function of Lipopolysaccharide-Challenged RAW 264.7 Macrophages In Vitro Compared to a Pharmacological Dose of Aspirin. Homeopathy : the journal of the Faculty of Homeopathy. 2023. doi:10.1055/s-0043-1769105

Advancing Understanding of Inequities in Rare Disease Genomics.

Serrano JG, O’Leary M, VanNoy GE, et al. Advancing Understanding of Inequities in Rare Disease Genomics. Clinical therapeutics. 2023. doi:10.1016/j.clinthera.2023.06.010

Guided construction of single cell reference for human and mouse lung.

Guo M, Morley MP, Jiang C, et al. Guided construction of single cell reference for human and mouse lung. Nature communications. 2023;14(1):4566. doi:10.1038/s41467-023-40173-5

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Publications

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