Flannick, Jason

Analysis of protein-coding genetic variation in 60,706 humans

Exome Aggregation Consortium, Lek, M., Karczewski, K. J., Minikel, E. V., Samocha, K. E., Banks, E., Fennell, T., O’Donnell-Luria, A. H., Ware, J. S., Hill, A. J., et al. (2016) · Nature

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 9,587

Age-related clonal hematopoiesis associated with adverse outcomes

Jaiswal, S., Fontanillas, P., Flannick, J., Manning, A., Grauman, P. V., Mar, B. G., Lindsley, R. C., Mermel, C. H., Burtt, N., Chavez, A., et al. (2014) · New England Journal of Medicine

Acute Myeloid Leukemia ResearchCancer Genomics and Diagnostics

Cited by 4,841

Patterns and rates of exonic de novo mutations in autism spectrum disorders

Neale, B. M., Kou, Y., Liu, L., Ma’ayan, A., Samocha, K. E., Sabo, A., Lin, C.-F., Stevens, C., Wang, L.-S., Makarov, V., et al. (2012) · Nature

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 1,734

The genetic architecture of type 2 diabetes

Fuchsberger, C., Flannick, J., Teslovich, T. M., Mahajan, A., Agarwala, V., Gaulton, K. J., Ma, C., Fontanillas, P., Moutsianas, L., McCarthy, D. J., et al. (2016) · Nature

Genetic Associations and EpidemiologyGenetic Mapping and Diversity in Plants and Animals

Cited by 1,051

Type 2 diabetes genetic loci informed by multi-trait associations point to disease mechanisms and subtypes: a soft clustering analysis

Udler, M. S., Kim, J., von Grotthuss, M., Bonàs-Guarch, S., Cole, J. B., Chiou, J., ISGC, C. D. A. O. B. O. M. A. T., Boehnke, M., Laakso, M., Atzmon, G., et al. (2018) · PLOS Medicine

Genetic Associations and EpidemiologyDiabetes and associated disorders

Cited by 542

Loss-of-function mutations in SLC30A8 protect against type 2 diabetes

Go-T2D Consortium, Flannick, J., T2D-GENES Consortium, Thorleifsson, G., Beer, N. L., Jacobs, S. B. R., Grarup, N., Burtt, N. P., Mahajan, A., Fuchsberger, C., et al. (2014) · Nature Genetics

Genetic Associations and EpidemiologyDiabetes and associated disorders

Cited by 492

Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes

Mahajan, A., Wessel, J., Willems, S. M., Zhao, W., Robertson, N. R., Chu, A. Y., Gan, W., Kitajima, H., Taliun, D., Rayner, N. W., et al. (2018) · Nature Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 442

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

Platform, B. G., Flannick, J., DiscovEHR Collaboration, CHARGE, LuCamp, ProDiGY, GoT2D, ESP, SIGMA-T2D, T2D-GENES, et al. (2019) · Nature

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 304

Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders

Lim, E. T., Raychaudhuri, S., Sanders, S. J., Stevens, C., Sabo, A., MacArthur, D. G., Neale, B. M., Kirby, A., Ruderfer, D. M., Fromer, M., et al. (2013) · Neuron

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 266

Association of a Low-Frequency Variant in HNF1A With Type 2 Diabetes in a Latino Population

Estrada, K., Aukrust, I., Bjørkhaug, L., Burtt, N. P., Mercader, J. M., García-Ortiz, H., Huerta-Chagoya, A., Moreno-Macías, H., Walford, G., Flannick, J., et al. (2014) · JAMA

Genetic Associations and EpidemiologyDiabetes and associated disorders

Cited by 259

Type 2 Diabetes Variants Disrupt Function of SLC16A11 through Two Distinct Mechanisms

Rusu, V., Hoch, E., Mercader, J. M., Tenen, D. E., Gymrek, M., Hartigan, C. R., DeRan, M., von Grotthuss, M., Fontanillas, P., Spooner, A., et al. (2017) · Cell

Genetic Associations and EpidemiologyMetabolism, Diabetes, and Cancer

Cited by 152

Assessing the phenotypic effects in the general population of rare variants in genes for a dominant Mendelian form of diabetes

Flannick, J., Beer, N. L., Bick, A. G., Agarwala, V., Molnes, J., Gupta, N., Burtt, N. P., Florez, J. C., Meigs, J. B., Taylor, H., et al. (2013) · Nature Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 136

Analysis of Rare, Exonic Variation amongst Subjects with Autism Spectrum Disorders and Population Controls

Liu, L., Sabo, A., Neale, B. M., Nagaswamy, U., Stevens, C., Lim, E., Bodea, C. A., Muzny, D., Reid, J. G., Banks, E., et al. (2013) · PLoS Genetics

Autism Spectrum Disorder ResearchGenomics and Rare Diseases

Cited by 135

Quantifying the impact of rare and ultra-rare coding variation across the phenotypic spectrum

Ganna, A., Satterstrom, F. K., Zekavat, S. M., Das, I., Kurki, M. I., Churchhouse, C., Alfoldi, J., Martin, A. R., Havulinna, A. S., Byrnes, A., et al. (2018) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 110

A universal carrier test for the long tail of Mendelian disease

Srinivasan, B. S., Evans, E. A., Flannick, J., Patterson, A. S., Chang, C. C., Pham, T., Young, S., Kaushal, A., Lee, J., Jacobson, J. L., et al. (2010) · Reproductive BioMedicine Online

Genomics and Rare DiseasesPrenatal Screening and Diagnostics

Cited by 105

The Lipid Droplet Knowledge Portal: A resource for systematic analyses of lipid droplet biology

Mejhert, N., Gabriel, K. R., Frendo-Cumbo, S., Krahmer, N., Song, J., Kuruvilla, L., Chitraju, C., Boland, S., Jang, D.-K., von Grotthuss, M., et al. (2022) · Developmental Cell

Lipid metabolism and biosynthesisLipid metabolism and disorders

Cited by 79

Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population

Lim, E. T., Würtz, P., Havulinna, A. S., Palta, P., Tukiainen, T., Rehnström, K., Esko, T., Mägi, R., Inouye, M., Lappalainen, T., et al. (2014) · PLoS Genetics

Genetic Associations and EpidemiologyGenomics and Rare Diseases

Cited by 49

Human gain-of-function variants in HNF1A confer protection from diabetes but independently increase hepatic secretion of atherogenic lipoproteins

DeForest, N., Kavitha, B., Hu, S., Isaac, R., Krohn, L., Wang, M., Du, X., De Arruda Saldanha, C., Gylys, J., Merli, E., et al. (2023) · Cell Genomics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 21

Multi-ancestry proteome-phenome-wide Mendelian randomization offers a comprehensive protein-disease atlas and potential therapeutic targets

Su, C.-Y., van der Graaf, A., Zhang, W., Jang, D.-K., Selber-Hnatiw, S., Yang, T.-Y., Butler-Laporte, G., Liang, K. Y. H., Matsuda, F., Costanzo, M. C., et al. (2024) · medRxiv

Genetic Associations and EpidemiologyBioinformatics and Genomic Networks

Cited by 17