Choi, Murim

Genetic studies of body mass index yield new insights for obesity biology

Study, T. L. C., Locke, A. E., The ADIPOGen Consortium, The AGEN-BMI Working Group, The CARDIOGRAMplusC4D Consortium, The CKDGen Consortium, The, G. L. G. C., The, I. C. B. P., The MAGIC Investigators, The MuTHER Consortium, et al. (2015) · Nature

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 4,534

De novo mutations revealed by whole-exome sequencing are strongly associated with autism

Sanders, S. J., Murtha, M. T., Gupta, A. R., Murdoch, J. D., Raubeson, M. J., Willsey, A. J., Ercan-Sencicek, A. G., DiLullo, N. M., Parikshak, N. N., Stein, J. L., et al. (2012) · Nature

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 2,084

New genetic loci link adipose and insulin biology to body fat distribution

The ADIPOGen Consortium, Shungin, D., The CARDIOGRAMplusC4D Consortium, The CKDGen Consortium, The GEFOS Consortium, The GENIE Consortium, The, G. L. G. C., The, I. C. B. P., The International Endogene Consortium, Study, T. L. C., et al. (2015) · Nature

Genetic Associations and EpidemiologyAdipokines, Inflammation, and Metabolic Diseases

Cited by 1,580

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism

Sanders, S. J., Ercan-Sencicek, A. G., Hus, V., Luo, R., Murtha, M. T., Moreno-De-Luca, D., Chu, S. H., Moreau, M. P., Gupta, A. R., Thomson, S. A., et al. (2011) · Neuron

Genomic variations and chromosomal abnormalitiesWilliams Syndrome Research

Cited by 1,263

Exome sequencing identifies recurrent somatic RAC1 mutations in melanoma

Krauthammer, M., Kong, Y., Ha, B. H., Evans, P., Bacchiocchi, A., McCusker, J. P., Cheng, E., Davis, M. J., Goh, G., Choi, M., et al. (2012) · Nature Genetics

Melanoma and MAPK PathwaysCutaneous Melanoma Detection and Management

Cited by 1,191

Co-occurring Genomic Alterations Define Major Subsets of KRAS -Mutant Lung Adenocarcinoma with Distinct Biology, Immune Profiles, and Therapeutic Vulnerabilities

Skoulidis, F., Byers, L. A., Diao, L., Papadimitrakopoulou, V. A., Tong, P., Izzo, J., Behrens, C., Kadara, H., Parra, E. R., Canales, J. R., et al. (2015) · Cancer Discovery

Lung Cancer Treatments and MutationsCancer Genomics and Diagnostics

Cited by 936

De novo mutations in histone-modifying genes in congenital heart disease

Zaidi, S., Choi, M., Wakimoto, H., Ma, L., Jiang, J., Overton, J. D., Romano-Adesman, A., Bjornson, R. D., Breitbart, R. E., Brown, K. K., et al. (2013) · Nature

Congenital heart defects researchGenomics and Rare Diseases

Cited by 934

Somatic and germline CACNA1D calcium channel mutations in aldosterone-producing adenomas and primary aldosteronism

Scholl, U. I., Goh, G., Stölting, G., de Oliveira, R. C., Choi, M., Overton, J. D., Fonseca, A. L., Korah, R., Starker, L. F., Kunstman, J. W., et al. (2013) · Nature Genetics

Hormonal Regulation and HypertensionIon channel regulation and function

Cited by 627

Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations

Bilgüvar, K., Öztürk, A. K., Louvi, A., Kwan, K. Y., Choi, M., Tatlı, B., Yalnızoğlu, D., Tüysüz, B., Çağlayan, A. O., Gökben, S., et al. (2010) · Nature

Fetal and Pediatric Neurological DisordersGenetics and Neurodevelopmental Disorders

Cited by 503

Isolated polycystic liver disease genes define effectors of polycystin-1 function

Besse, W., Dong, K., Choi, J., Punia, S., Fedeles, S. V., Choi, M., Gallagher, A.-R., Huang, E. B., Gulati, A., Knight, J., et al. (2017) · Journal of Clinical Investigation

Genetic and Kidney Cyst DiseasesCystic Fibrosis Research Advances

Cited by 203

Comprehensive re-sequencing of adrenal aldosterone producing lesions reveal three somatic mutations near the KCNJ5 potassium channel selectivity filter

Åkerström, T., Crona, J., Delgado Verdugo, A., Starker, L. F., Cupisti, K., Willenberg, H. S., Knoefel, W. T., Saeger, W., Feller, A., Ip, J., et al. (2012) · PLoS ONE

Hormonal Regulation and HypertensionAdrenal and Paraganglionic Tumors

Cited by 188

Loss-or gain-of-function mutations in ACOX1 cause axonal loss via different mechanisms

Chung, H.-L., Wangler, M. F., Marcogliese, P. C., Jo, J., Ravenscroft, T. A., Zuo, Z., Duraine, L., Sadeghzadeh, S., Li-Kroeger, D., Schmidt, R. E., et al. (2020) · Neuron

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 154

Genetic heterogeneity in Leigh syndrome: Highlighting treatable and novel genetic causes

Lee, J. S., Yoo, T., Lee, M., Lee, Y., Jeon, E., Kim, S. Y., Lim, B. C., Kim, K. J., Choi, M., & Chae, J. (2020) · Clinical Genetics

Mitochondrial Function and PathologyMetabolism and Genetic Disorders

Cited by 92