Jhangiani, Shalini N.

Somatic mutations affect key pathways in lung adenocarcinoma

Ding, L., Getz, G., Wheeler, D. A., Mardis, E. R., McLellan, M. D., Cibulskis, K., Sougnez, C., Greulich, H., Muzny, D. M., Morgan, M. B., et al. (2008) · Nature

Lung Cancer Treatments and MutationsCancer Genomics and Diagnostics

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Evolutionary and biomedical insights from the rhesus macaque genome.

Gibbs, R. A., Rogers, J., Katze, M. G., Bumgarner, R., Weinstock, G. M., Mardis, E. R., Remington, K. A., Strausberg, R. L., Venter, J. C., Wilson, R. K., et al. (2007) · Science

Genomics and Phylogenetic StudiesChromosomal and Genetic Variations

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The Genome Sequence of Taurine Cattle: A Window to Ruminant Biology and Evolution

The Bovine Genome Sequencing and Analysis Consortium, Elsik, C. G., Tellam, R. L., Worley, K. C., Gibbs, R. A., Muzny, D. M., Weinstock, G. M., Adelson, D. L., Eichler, E. E., Elnitski, L., et al. (2009) · Science

Genetic and phenotypic traits in livestockGenomics and Phylogenetic Studies

Cited by 1,287

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities

Chong, J. X., Buckingham, K. J., Jhangiani, S. N., Boehm, C., Sobreira, N., Smith, J. D., Harrell, T. M., McMillin, M. J., Wiszniewski, W., Gambin, T., et al. (2015) · The American Journal of Human Genetics

Genomics and Rare DiseasesGenetic Associations and Epidemiology

Cited by 643

The sheep genome illuminates biology of the rumen and lipid metabolism

Jiang, Y., Xie, M., Chen, W., Talbot, R., Maddox, J. F., Faraut, T., Wu, C., Muzny, D. M., Li, Y., Zhang, W., et al. (2014) · Science

Genetic and phenotypic traits in livestockRuminant Nutrition and Digestive Physiology

Cited by 514

Lessons learned from additional research analyses of unsolved clinical exome cases

Eldomery, M. K., Coban-Akdemir, Z., Harel, T., Rosenfeld, J. A., Gambin, T., Stray-Pedersen, A., Küry, S., Mercier, S., Lessel, D., Denecke, J., et al. (2017) · Genome Medicine

Genomics and Rare DiseasesConnective tissue disorders research

Cited by 230

Identifying Genes Whose Mutant Transcripts Cause Dominant Disease Traits by Potential Gain-of-Function Alleles

Coban-Akdemir, Z., White, J. J., Song, X., Jhangiani, S. N., Fatih, J. M., Gambin, T., Bayram, Y., Chinn, I. K., Karaca, E., Punetha, J., et al. (2018) · The American Journal of Human Genetics

Genomics and Rare DiseasesRNA Research and Splicing

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Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations

Lalani, S. R., Liu, P., Rosenfeld, J. A., Watkin, L. B., Chiang, T., Leduc, M. S., Zhu, W., Ding, Y., Pan, S., Vetrini, F., et al. (2016) · The American Journal of Human Genetics

Genomics and Rare DiseasesMetabolism and Genetic Disorders

Cited by 143

HEM1 deficiency disrupts mTORC2 and F-actin control in inherited immunodysregulatory disease

Cook, S. A., Comrie, W. A., Poli, M. C., Similuk, M., Oler, A. J., Faruqi, A. J., Kuhns, D. B., Yang, S., Vargas-Hernández, A., Carisey, A. F., et al. (2020) · Science

Immunodeficiency and Autoimmune DisordersPI3K/AKT/mTOR signaling in cancer

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Novel mutations in LRP6 highlight the role of WNT signaling in tooth agenesis

Ockeloen, C. W., Khandelwal, K. D., Dreesen, K., Ludwig, K. U., Sullivan, R., van Rooij, I. A. L. M., Thonissen, M., Swinnen, S., Phan, M., Conte, F., et al. (2016) · Genetics in Medicine

dental development and anomaliesCleft Lip and Palate Research

Cited by 78

New syndrome with retinitis pigmentosa is caused by nonsense mutations in retinol dehydrogenase RDH11

Xie, Y. (., Lee, W., Cai, C., Gambin, T., Nõupuu, K., Sujirakul, T., Ayuso, C., Jhangiani, S., Muzny, D., Boerwinkle, E., et al. (2014) · Human Molecular Genetics

Retinal Development and DisordersRetinoids in leukemia and cellular processes

Cited by 40

Genetic immunodeficiency and autoimmune disease reveal distinct roles of Hem1 in the WAVE2 and mTORC2 complexes

Comrie, W. A., Poli, M. C., Cook, S. A., Similuk, M., Oler, A. J., Faruqi, A. J., Kuhns, D. B., Yang, S., Carisey, A. F., Fournier, B., et al. (2019) · bioRxiv (Cold Spring Harbor Laboratory)

Immunodeficiency and Autoimmune DisordersT-cell and B-cell Immunology

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