Eng, Charis

Gene Mutations in the Succinate Dehydrogenase Subunit SDHB Cause Susceptibility to Familial Pheochromocytoma and to Familial Paraganglioma

Astuti, D., Latif, F., Dallol, A., Dahia, P. L. M., Douglas, F., George, E., Sköldberg, F., Husebye, E. S., Eng, C., & Maher, E. R. (2001) · The American Journal of Human Genetics

Adrenal and Paraganglionic TumorsNeurofibromatosis and Schwannoma Cases

Cited by 1,087

Essential role for nuclear PTEN in maintaining chromosomal integrity

Shen, W. H., Balajee, A. S., Wang, J., Wu, H., Eng, C., Pandolfi, P. P., & Yin, Y. (2007) · Cell

DNA Repair MechanismsMicrotubule and mitosis dynamics

Cited by 979

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations

Butler, M. G., Dasouki, M. J., Zhou, X.-P., Talebizadeh, Z., Brown, M., Takahashi, T. N., Miles, J. H., Wang, C. H., Stratton, R., Pilarski, R., et al. (2005) · Journal of Medical Genetics

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 778

Pheochromocytoma and Paraganglioma

Neumann, H. P. H., Young, W. F., & Eng, C. (2019) · New England Journal of Medicine

Adrenal and Paraganglionic TumorsNeurofibromatosis and Schwannoma Cases

Cited by 736

Protean PTEN: Form and Function

Waite, K. A., & Eng, C. (2002) · The American Journal of Human Genetics

PI3K/AKT/mTOR signaling in cancerGenetic and rare skin diseases.

Cited by 457

A role for mitochondrial enzymes in inherited neoplasia and beyond

Eng, C., Kiuru, M., Fernandez, M. J., & Aaltonen, L. A. (2003) · Nature Reviews Cancer

Mitochondrial Function and PathologyCancer, Hypoxia, and Metabolism

Cited by 392

Validation of Proposed DSM-5 Criteria for Autism Spectrum Disorder

Frazier, T. W., Youngstrom, E. A., Speer, L., Embacher, R., Law, P., Constantino, J., Findling, R. L., Hardan, A. Y., & Eng, C. (2012) · Journal of the American Academy of Child & Adolescent Psychiatry

Autism Spectrum Disorder ResearchChild Nutrition and Feeding Issues

Cited by 392

Early-onset renal cell carcinoma as a novel extraparaganglial component of SDHB-associated heritable paraganglioma.

Vanharanta, S., Buchta, M., McWhinney, S. R., Virta, S. K., Peçzkowska, M., Morrison, C. D., Lehtonen, R., Januszewicz, A., Järvinen, H., Juhola, M., et al. (2004) · The American Journal of Human Genetics

Adrenal and Paraganglionic TumorsRenal cell carcinoma treatment

Cited by 389

PTEN hamartoma tumor syndrome: an overview

Hobert, J. A., & Eng, C. (2009) · Genetics in Medicine

Genetic and rare skin diseases.PI3K/AKT/mTOR signaling in cancer

Cited by 366

Target identification among known drugs by deep learning from heterogeneous networks

Zeng, X., Zhu, S., Lu, W., Liu, Z., Huang, J., Zhou, Y., Fang, J., Huang, Y., Guo, H., Li, L., et al. (2020) · Chemical Science

Computational Drug Discovery MethodsBioinformatics and Genomic Networks

Cited by 357

Germline SDHD mutation in familial phaeochromocytoma

Astuti, D., Douglas, F., Lennard, T. W., Aligianis, I. A., Woodward, E. R., Evans, D. G. R., Eng, C., Latif, F., & Maher, E. R. (2001) · The Lancet

Adrenal and Paraganglionic TumorsNeurofibromatosis and Schwannoma Cases

Cited by 246

A genome-wide positioning systems network algorithm for in silico drug repurposing

Cheng, F., Lu, W., Liu, C., Fang, J., Hou, Y., Handy, D. E., Wang, R., Zhao, Y., Yang, Y., Huang, J., et al. (2019) · Nature Communications

Computational Drug Discovery MethodsBioinformatics and Genomic Networks

Cited by 215

Germline PIK3CA and AKT1 mutations in cowden and cowden-like syndromes

Orloff, M. S., He, X., Peterson, C., Chen, F., Chen, J.-L., Mester, J. L., & Eng, C. (2013) · The American Journal of Human Genetics

PI3K/AKT/mTOR signaling in cancerBRCA gene mutations in cancer

Cited by 201

A network medicine approach to investigation and population-based validation of disease manifestations and drug repurposing for COVID-19

Zhou, Y., Hou, Y., Shen, J., Mehra, R., Kallianpur, A., Culver, D. A., Gack, M. U., Farha, S., Zein, J., Comhair, S., et al. (2020) · PLoS Biology

Bioinformatics and Genomic NetworksSARS-CoV-2 and COVID-19 Research

Cited by 180

Molecular and phenotypic abnormalities in individuals with germline heterozygous PTEN mutations and autism

Frazier, T. W., Embacher, R., Tilot, A. K., Koenig, K., Mester, J., & Eng, C. (2015) · Molecular Psychiatry

Genetics and Neurodevelopmental DisordersAutism Spectrum Disorder Research

Cited by 177

A twin study of heritable and shared environmental contributions to autism

Frazier, T. W., Thompson, L., Youngstrom, E. A., Law, P., Hardan, A. Y., Eng, C., & Morris, N. (2014) · Journal of Autism and Developmental Disorders

Autism Spectrum Disorder ResearchGenetics and Neurodevelopmental Disorders

Cited by 120

Interpretable deep learning translation of GWAS and multi-omics findings to identify pathobiology and drug repurposing in Alzheimer’s disease

Xu, J., Mao, C., Hou, Y., Luo, Y., Binder, J. L., Zhou, Y., Bekris, L. M., Shin, J., Hu, M., Wang, F., et al. (2022) · Cell Reports

Alzheimer's disease research and treatmentsBioinformatics and Genomic Networks

Cited by 115

Subtypes of familial breast tumours revealed by expression and copy number profiling

kConFab Investigators, Waddell, N., Arnold, J., Cocciardi, S., da Silva, L., Marsh, A., Riley, J., Johnstone, C. N., Orloff, M., Assie, G., et al. (2010) · Breast Cancer Research and Treatment

Breast Cancer Treatment StudiesBRCA gene mutations in cancer

Cited by 99

A highly conserved processed PTEN pseudogene is located on chromosome band 9p21

Dahia, P. L., FitzGerald, M. G., Zhang, X., Marsh, D. J., Zheng, Z., Pietsch, T., von Deimling, A., Haluska, F. G., Haber, D. A., & Eng, C. (1998) · Oncogene

PI3K/AKT/mTOR signaling in cancerProtein Tyrosine Phosphatases

Cited by 99

PTEN autoregulates its expression by stabilization of p53 in a phosphatase-independent manner

Tang, Y., & Eng, C. (2006) · Cancer Research

Cancer-related Molecular PathwaysPI3K/AKT/mTOR signaling in cancer

Cited by 97

Large Germline Deletions of Mitochondrial Complex II Subunits SDHB and SDHD in Hereditary Paraganglioma

McWhinney, S. R., Pilarski, R. T., Forrester, S. R., Schneider, M. C., Sarquis, M. M., Dias, E. P., & Eng, C. (2004) · The Journal of Clinical Endocrinology & Metabolism

Adrenal and Paraganglionic TumorsNeurofibromatosis and Schwannoma Cases

Cited by 89

MRI Surveillance and Breast Cancer Mortality in Women With BRCA1 and BRCA2 Sequence Variations

Lubinski, J., Kotsopoulos, J., Moller, P., Pal, T., Eisen, A., Peck, L., Karlan, B. Y., Aeilts, A., Eng, C., Bordeleau, L., et al. (2024) · JAMA Oncology

BRCA gene mutations in cancerMRI in cancer diagnosis

Cited by 82

A Randomized Trial Comparing the Effectiveness of Pre-test Genetic Counseling Using an Artificial Intelligence Automated Chatbot and Traditional In-person Genetic Counseling in Women Newly Diagnosed with Breast Cancer

Al-Hilli, Z., Noss, R., Dickard, J., Wei, W., Chichura, A., Wu, V., Renicker, K., Pederson, H. J., & Eng, C. (2023) · Annals of Surgical Oncology

BRCA gene mutations in cancerArtificial Intelligence in Healthcare and Education

Cited by 63

Androgen receptor-induced tumor suppressor, KLLN, inhibits breast cancer growth and transcriptionally activates p53/p73-mediated apoptosis in breast carcinomas

Wang, Y., He, X., Yu, Q., & Eng, C. (2013) · Human Molecular Genetics

Estrogen and related hormone effectsBreast Cancer Treatment Studies

Cited by 57