The DOI matches its Crossref record; 35 of the 35 references it cites were found in a registry or an index.
Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma
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Citations
Cites
The Sequence Alignment/Map format and SAMtools
Li, H., Handsaker, B., Wysoker, A., Fennell, T., Ruan, J., Homer, N., Marth, G., Abecasis, G., Durbin, R., & 1000 Genome Project Data Processing Subgroup (2009) · Bioinformatics · doi:10.1093/bioinformatics/btp352 · Cited by 62,041
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
Wang, K., Li, M., & Hakonarson, H. (2010) · Nucleic Acids Research · doi:10.1093/nar/gkq603 · Cited by 14,621
Mutations in SDHD , a Mitochondrial Complex II Gene, in Hereditary Paraganglioma
Baysal, B. E., Ferrell, R. E., Willett-Brozick, J. E., Lawrence, E. C., Myssiorek, D., Bosch, A., Mey, A. V. D., Taschner, P. E. M., Rubinstein, W. S., Myers, E. N., et al. (2000) · Science · doi:10.1126/science.287.5454.848 · Cited by 1,638
Germ-Line Mutations in Nonsyndromic Pheochromocytoma
Neumann, H. P. H., Bausch, B., McWhinney, S. R., Bender, B. U., Gimm, O., Franke, G., Schipper, J., Klisch, J., Altehoefer, C., Zerres, K., et al. (2002) · New England Journal of Medicine · doi:10.1056/nejmoa020152 · Cited by 1,367
The Myc/Max/Mad Network and the Transcriptional Control of Cell Behavior
Grandori, C., Cowley, S. M., James, L. P., & Eisenman, R. N. (2000) · Annual Review of Cell and Developmental Biology · doi:10.1146/annurev.cellbio.16.1.653 · Cited by 1,333
Transposition and amplification of oncogene-related sequences in human neuroblastomas
Kohl, N. E., Kanda, N., Schreck, R. R., Bruns, G., Latt, S. A., Gilbert, F., & Alt, F. W. (1983) · Cell · doi:10.1016/0092-8674(83)90169-1 · Cited by 731
SDH5 , a Gene Required for Flavination of Succinate Dehydrogenase, Is Mutated in Paraganglioma
Hao, H.-X., Khalimonchuk, O., Schraders, M., Dephoure, N., Bayley, J.-P., Kunst, H., Devilee, P., Cremers, C. W. R. J., Schiffman, J. D., Bentz, B. G., et al. (2009) · Science · doi:10.1126/science.1175689 · Cited by 702 · cited 1×
“861" language="eng" relation="no"> Hereditary pheochromocytoma (PCC) is often caused by germline mutations in one of nine susceptibility genes described to dat”
BackgroundSDHA is a tumor suppressor gene causing paraganglioma
Burnichon, N., Brière, J.-J., Libé, R., Vescovo, L., Rivière, J., Tissier, F., Jouanno, E., Jeunemaitre, X., Bénit, P., Tzagoloff, A., et al. (2010) · Human Molecular Genetics · doi:10.1093/hmg/ddq206 · Cited by 650
The NF1 tumor suppressor critically regulates TSC2 and mTOR
Johannessen, C. M., Reczek, E. E., James, M. F., Brems, H., Legius, E., & Cichowski, K. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0503224102 · Cited by 601
X-Ray Structures of Myc-Max and Mad-Max Recognizing DNA
Nair, S. K., & Burley, S. K. (2003) · Cell · doi:10.1016/s0092-8674(02)01284-9 · Cited by 551
Cited by
Pheochromocytoma and paraganglioma: an endocrine society clinical practice guideline
Lenders, J. W. M., Duh, Q.-Y., Eisenhofer, G., Gimenez-Roqueplo, A.-P., Grebe, S. K. G., Murad, M. H., Naruse, M., Pacak, K., & Young, W. F. (2014) · The Journal of Clinical Endocrinology & Metabolism · doi:10.1210/jc.2014-1498 · Cited by 2,827
Widespread Genetic Heterogeneity in Multiple Myeloma: Implications for Targeted Therapy
Lohr, J. G., Stojanov, P., Carter, S. L., Cruz-Gordillo, P., Lawrence, M. S., Auclair, D., Sougnez, C., Knoechel, B., Gould, J., Saksena, G., et al. (2014) · Cancer Cell · doi:10.1016/j.ccr.2013.12.015 · Cited by 988
Pheochromocytoma and Paraganglioma
Neumann, H. P. H., Young, W. F., & Eng, C. (2019) · New England Journal of Medicine · doi:10.1056/nejmra1806651 · Cited by 736
Pheochromocytoma and paraganglioma pathogenesis: learning from genetic heterogeneity
Dahia, P. L. M. (2014) · Nature Reviews Cancer · doi:10.1038/nrc3648 · Cited by 545
Human Genome Sequencing in Health and Disease
Gonzaga-Jauregui, C., Lupski, J. R., & Gibbs, R. A. (2012) · Annual Review of Medicine · doi:10.1146/annurev-med-051010-162644 · Cited by 473
Metadata
- Authors
- Comino-Méndez, I., Gracia-Aznárez, F. J., Schiavi, F., Landa, I., Leandro-García, L. J., Letón, R., Honrado, E., Ramos-Medina, R., Caronia, D., Pita, G., Gómez-Graña, Á., de Cubas, A. A., Inglada-Pérez, L., Maliszewska, A., Taschin, E., Bobisse, S., Pica, G., Loli, P., Hernández-Lavado, R., Díaz, J. A., Gómez-Morales, M., González-Neira, A., Roncador, G., Rodríguez-Antona, C., Benítez, J., Mannelli, M., Opocher, G., Robledo, M., & Cascón, A.
- Venue
- Nature Genetics
- Published
- 2011-06-19
- Volume
- 43
- Issue
- 7
- Pages
- 663-667
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1966955143
- Cited by
- 526
- References
- 35
- FWCI
- 54.84
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. https://app.cochat.ai/papers/10.1038/ng.861
- The paper
- Comino-Méndez, I., Gracia-Aznárez, F. J., Schiavi, F., Landa, I., Leandro-García, L. J., Letón, R., Honrado, E., Ramos-Medina, R., Caronia, D., Pita, G., Gómez-Graña, Á., de Cubas, A. A., Inglada-Pérez, L., Maliszewska, A., Taschin, E., Bobisse, S., Pica, G., Loli, P., Hernández-Lavado, R., . . . Cascón, A. (2011). Exome sequencing identifies MAX mutations as a cause of hereditary pheochromocytoma. Nature Genetics. https://doi.org/10.1038/ng.861
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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
