Research output per year
Research output per year
- 1 - 50 out of 1,745 results
Search results
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2024
Association of genetic variation in COL11A1 with adolescent idiopathic scoliosis
Yu, H., Khanshour, A. M., Ushiki, A., Otomo, N., Koike, Y., Einarsdottir, E., Fan, Y., Antunes, L., Kidane, Y. H., Cornelia, R., Sheng, R. R., Zhang, Y., Pei, J., Grishin, N. V., Evers, B. M., Cheung, J. P. Y., Herring, J. A., Terao, C., Song, Y. Q., Gurnett, C. A., & 5 others, 2024, In: eLife. 13, RP89762.Research output: Contribution to journal › Article › peer-review
Open Access -
Associations Between Cardiac Function and Brain Health in Diverse Middle-Aged Adults: The Dallas Heart Study-2
Giacona, J. M., Chia, R., Kositanurit, W., Wang, J., Ayers, C., Pandey, A., Kozlitina, J., Drazner, M. H., Garg, S., de Lemos, J. A., Zhang, R., Hajjar, I., Yu, F. F., Lacritz, L. & Vongpatanasin, W., Feb 2024, In: JACC: Advances. 3, 2, 100777.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Best practice recommendations for the management of anxiety during the pegvaliase journey
Bjoraker, K. J., Eggerding, C., Ellenberg, E., Hollander, S., Holmes, B. M., Lindstrom, K., McNutt, M., Miller, S., Northrup, H., Rogers, M., Rose, S., Scott, M., Shim, S., Wardley, B., Wessenberg, L. & Bilder, D. A., Jan 2024, In: Molecular genetics and metabolism. 141, 1, 107737.Research output: Contribution to journal › Article › peer-review
Open Access -
Circulating transthyretin and retinol binding protein 4 levels among middle-age V122I TTR carriers in the general population
Hendren, N. S., De Lemos, J. A., Berry, J. D., Kozlitina, J., Saelices, L., Ji, A. X., Shao, Z., Liu, C. F., Garg, S., Farr, M. A., Drazner, M. H., Tang, W. H. W. & Grodin, J. L., 2024, (Accepted/In press) In: Amyloid.Research output: Contribution to journal › Article › peer-review
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Computational analysis of protein–protein interactions of cancer drivers in renal cell carcinoma
Pei, J., Zhang, J. & Cong, Q., Jan 2024, In: FEBS Open Bio. 14, 1, p. 112-126 15 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Deletion of Pax1 scoliosis-associated regulatory elements leads to a female-biased tail abnormality
Ushiki, A., Sheng, R. R., Zhang, Y., Zhao, J., Nobuhara, M., Murray, E., Ruan, X., Rios, J. J., Wise, C. A. & Ahituv, N., Mar 26 2024, In: Cell Reports. 43, 3, 113907.Research output: Contribution to journal › Article › peer-review
Open Access -
Early-onset diabetes mellitus as a presenting feature of Werner's syndrome in an Indian family
Hoff, F. W., Xing, C., Simha, V., Agarwal, A. K., Zhang, X., Lekkala, L., Vaishnav, M. S., Vuitch, F. & Garg, A., Jan 2024, In: Molecular Genetics and Genomic Medicine. 12, 1, e2299.Research output: Contribution to journal › Article › peer-review
Open Access -
ECOD domain classification of 48 whole proteomes from AlphaFold Structure Database using DPAM2
Schaeffer, R. D., Zhang, J., Medvedev, K. E., Kinch, L. N., Cong, Q. & Grishin, N. V., Feb 2024, In: PLoS Computational Biology. 20, 2, e1011586.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Effect of donor HSD17B13 genotype on patient survival after liver transplant: a retrospective cohort study
Kozlitina, J., Cohen, N. M., Sturtevant, D., Cohen, J. C., Murphey-Half, C., Saltarrelli, J. G., Jindra, P., Askar, M., Hwang, C. S., Vagefi, P. A., Lacelle, C., Hobbs, H. H. & MacConmara, M. P., Jan 2024, In: EClinicalMedicine. 67, 102350.Research output: Contribution to journal › Article › peer-review
Open Access -
Genetic influences on motor learning and performance and superperforming mutants revealed by random mutational survey of the mouse genome
Jakkamsetti, V., Ma, Q., Angulo, G., Scudder, W., Beutler, B. & Pascual, J. M., 2024, (Accepted/In press) In: Journal of Physiology.Research output: Contribution to journal › Article › peer-review
Open Access -
Glutamine antagonists may KEAP lung cancer in check
Blatt, E. B. & DeBerardinis, R. J., Mar 2024, In: Science Advances. 10, 13, eado7808.Research output: Contribution to journal › Article › peer-review
Open Access -
Metabolic signatures of thymomas: potential biomarkers and treatment targets
Miller, J. W., Faubert, B. M., Mathews, T. P., Waters, J. K., DeBerardinis, R. J. & Kernstine, K. H., Feb 1 2024, In: European Journal of Cardio-thoracic Surgery. 65, 2, ezad394.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Outcomes in 14 live births resulting from Pegvaliase-treated pregnancies in PKU-affected females
Bier, C., Dickey, K., Bibb, B., Crutcher, A., Sponberg, R., Chang, R., Boyer, M., Davis-Keppen, L., Matthes, C., Tharp, M., Vice, D., Cooney, E., Morand, M., Ray, J., Lah, M., McNutt, M. & Andersson, H. C., Mar 2024, In: Molecular genetics and metabolism. 141, 3, 108152.Research output: Contribution to journal › Article › peer-review
Open Access -
Potential endpoints for assessment of bone health in persons with neurofibromatosis type 1
Gross, A. M., Plotkin, S. R., Watts, N. B., Fisher, M. J., Klesse, L. J., Lessing, A. J., McManus, M. L., Larson, A. N., Oberlander, B., Rios, J. J., Sarnoff, H., Simpson, B. N., Ullrich, N. J. & Stevenson, D. A., Feb 2024, In: Clinical Trials. 21, 1, p. 29-39 11 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Severely polarized extracellular acidity around tumour cells
Feng, Q., Bennett, Z., Grichuk, A., Pantoja, R., Huang, T., Faubert, B., Huang, G., Chen, M., DeBerardinis, R. J., Sumer, B. D. & Gao, J., 2024, (Accepted/In press) In: Nature Biomedical Engineering.Research output: Contribution to journal › Article › peer-review
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The Efficacy of a Human-Ready miniMECP2 Gene Therapy in a Pre-Clinical Model of Rett Syndrome
Sadhu, C., Lyons, C., Oh, J., Jagadeeswaran, I., Gray, S. J. & Sinnett, S. E., Jan 2024, In: Genes. 15, 1, 31.Research output: Contribution to journal › Article › peer-review
Open Access -
The Extracellular Niche and Tumor Microenvironment Enhance KRAS Inhibitor Efficacy in Pancreatic Cancer
Kumarasamy, V., Wang, J., Frangou, C., Wan, Y., Dynka, A., Rosenheck, H., Dey, P., Abel, E. V., Knudsen, E. S. & Witkiewicz, A. K., Apr 1 2024, In: Cancer research. 84, 7, p. 1115-1132 18 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
The ubiquitin E3 ligase BFAR promotes degradation of PNPLA3
Das, A., Cheng, H., Wang, Y., Kinch, L. N., Liang, G., Hong, S., Hobbs, H. H. & Cohen, J. C., 2024, In: Proceedings of the National Academy of Sciences of the United States of America. 121, 6Research output: Contribution to journal › Article › peer-review
Open Access -
Wnt16 Promotes Vascular Smooth Muscle Contractile Phenotype and Function via Taz (Wwtr1) Activation in Male LDLR−/− Mice
Behrmann, A., Zhong, D., Li, L., Xie, S., Mead, M., Sabaeifard, P., Goodarzi, M., Lemoff, A., Kozlitina, J. & Towler, D. A., Feb 1 2024, In: Endocrinology. 165, 2, bqad192.Research output: Contribution to journal › Article › peer-review
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2023
Ablation of EWS-FLI1 by USP9X inhibition suppresses cancer cell growth in Ewing sarcoma
Wang, S., Huo, X., Yang, Y., Mo, Y., Kollipara, R. K. & Kittler, R., Jan 1 2023, In: Cancer Letters. 552, 215984.Research output: Contribution to journal › Article › peer-review
4 Scopus citations -
A comparative study of neuroendocrine heterogeneity in small cell lung cancer and neuroblastoma
Cai, L., De Berardinis, R. J., Xie, Y., Minna, J. D. & Xiao, G., Aug 1 2023, In: Molecular Cancer Research. 21, 8, p. 795-807 13 p.Research output: Contribution to journal › Article › peer-review
Open Access -
A concise study of acetazolamide in glucose transporter type 1 deficiency (G1D) epilepsy
Málaga, I., Avila, A., Primeaux, S., Park, J. Y. & Pascual, J. M., Sep 2023, In: Epilepsia. 64, 9, p. e184-e189Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Adipocytes reprogram cancer cell metabolism by diverting glucose towards glycerol-3-phosphate thereby promoting metastasis
Mukherjee, A., Bezwada, D., Greco, F., Zandbergen, M., Shen, T., Chiang, C. Y., Tasdemir, M., Fahrmann, J., Grapov, D., La Frano, M. R., Vu, H. S., Faubert, B., Newman, J. W., McDonnell, L. A., Nezi, L., Fiehn, O., DeBerardinis, R. J. & Lengyel, E., Sep 2023, In: Nature Metabolism. 5, 9, p. 1563-1577 15 p.Research output: Contribution to journal › Article › peer-review
3 Scopus citations -
AFTM: a database of transmembrane regions in the human proteome predicted by AlphaFold
Pei, J. & Cong, Q., 2023, In: Database. 2023, baad008.Research output: Contribution to journal › Article › peer-review
Open Access -
Airway Edema after Keloid Resection and Superficial Radiation: Unexpected Event in an Unusual Location
Bailey, V. E., Knowles, A., Glass, D., Albuquerque, K. & Nagarkar, P., Feb 17 2023, In: Plastic and Reconstructive Surgery - Global Open. 11, 2, p. E4823Research output: Contribution to journal › Article › peer-review
Open Access -
ALK Amplification and Rearrangements Are Recurrent Targetable Events in Congenital and Adult Glioblastoma
Blandin, A. F., Giglio, R., Graham, M. S., Garcia, G., Malinowski, S., Woods, J. K., Ramkissoon, S., Ramkissoon, L., Dubois, F., Schoolcraft, K., Tsai, J., Wang, D., Jones, R., Vogelzang, J., Pelton, K., Becker, S., Watkinson, F., Sinai, C., Cohen, E. F., Booker, M. A., & 26 others, Jul 2023, In: Clinical Cancer Research. 29, 14, p. 2651-2667 17 p.Research output: Contribution to journal › Article › peer-review
Open Access4 Scopus citations -
A Low-grade Sinonasal Sarcoma Harboring EWSR1::BEND2: Expanding the Differential Diagnosis of Sinonasal Spindle Cell Neoplasms
Palsgrove, D. N., Manucha, V., Park, J. Y. & Bishop, J. A., Jun 2023, In: Head and Neck Pathology. 17, 2, p. 571-575 5 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
A nonparametric alternative to the Cochran-Armitage trend test in genetic case-control association studies: The Jonckheere-Terpstra trend test
Manning, S. E., Ku, H. C., Dluzen, D. F., Xing, C. & Zhou, Z., Feb 2023, In: PloS one. 18, 2 February, e0280809.Research output: Contribution to journal › Article › peer-review
Open Access3 Scopus citations -
A novel autism-associated UBLCP1 mutation impacts proteasome regulation/activity
Soueid, J., Hamze, Z., Bedran, J., Chahrour, M. & Boustany, R. M., Dec 2023, In: Translational psychiatry. 13, 1, 404.Research output: Contribution to journal › Article › peer-review
Open Access -
A retrospective study on the association of keloids with underlying health conditions in African-American Women
Marella, P. & Glass, D. A., Feb 23 2023, In: International Journal of Women's Dermatology. 9, 1, p. E074Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Arginase 1 Deficiency in Patients Initially Diagnosed with Hereditary Spastic Paraplegia
McNutt, M. C., Foreman, N. & Gotway, G., Jan 2023, In: Movement Disorders Clinical Practice. 10, 1, p. 109-114 6 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Association between genetic predisposition and disease burden of stroke in China: a genetic epidemiological study
Huang, Q., Lan, X., Chen, H., Li, H., Sun, Y., Ren, C., Xing, C., Bo, X., Wang, J., Jin, X. & Song, L., Jul 2023, In: The Lancet Regional Health - Western Pacific. 36, 100779.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Atopic dermatitis is associated with an increased risk of keloids: A case-control study
Limmer, E. E., Knowles, A., Deng, J., Parthasarathy, V., Kwatra, S. G. & Glass, D. A., May 2023, In: Journal of the American Academy of Dermatology. 88, 5, p. 1177-1179 3 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
A Varying Coefficient Model to Jointly Test Genetic and Gene–Environment Interaction Effects
Zhou, Z., Ku, H. C., Manning, S. E., Zhang, M. & Xing, C., Jul 2023, In: Behavior Genetics. 53, 4, p. 374-382 9 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
Basement membrane proteins in extracellular matrix characterize NF1 neurofibroma development and response to MEK inhibitor
Jiang, C., Kumar, A., Yu, Z., Shipman, T., Wang, Y., McKay, R. M., Xing, C. & Le, L. Q., Jun 15 2023, In: Journal of Clinical Investigation. 133, 12, e168227.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations -
Cachexia, chorea, and pain in chronic nonbacterial osteitis and inflammatory bowel disease: a case report
Agharokh, L., Mamola, K., Yu, A. G., Medina, A. L., Gurram, B., Fuller, J., Park, J. Y., Chen, W., Rajaram, V., Hammer, M. R. & Waugh, J. L., Dec 2023, In: Journal of Medical Case Reports. 17, 1, 237.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Challenges in Inter-rater Agreement on Lamina Propria Fibrosis in Esophageal Biopsies
Thaker, A. I., Smith, J., Pathak, M. & Park, J. Y., Mar 1 2023, In: Pediatric and Developmental Pathology. 26, 2, p. 106-114 9 p.Research output: Contribution to journal › Article › peer-review
1 Scopus citations -
CHD-associated enhancers shape human cardiomyocyte lineage commitment
Armendariz, D. A., Goetsch, S. C., Sundarrajan, A., Sivakumar, S., Wang, Y., Xie, S., Munshi, N. V. & Hon, G. C., 2023, In: eLife. 12, e86206.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Chromosomal Numerical Aberrations and Rare Copy Number Variation in Patients with Inflammatory Bowel Disease
Dirvanskyte, P., Gurram, B., Bolton, C., Warner, N., Jones, K. D. J., Griffin, H. R., Park, J. Y., Keller, K. M., Gilmour, K. C., Hambleton, S., Muise, A. M., Wysocki, C. & Uhlig, H. H., Jan 1 2023, In: Journal of Crohn's and Colitis. 17, 1, p. 49-60 12 p.Research output: Contribution to journal › Article › peer-review
Open Access -
Classification of domains in predicted structures of the human proteome
Schaeffer, R. D., Zhang, J., Kinch, L. N., Pei, J., Cong, Q. & Grishin, N. V., Mar 21 2023, In: Proceedings of the National Academy of Sciences of the United States of America. 120, 12, e2214069120.Research output: Contribution to journal › Article › peer-review
Open Access8 Scopus citations -
Combination of triheptanoin with the ketogenic diet in Glucose transporter type 1 deficiency (G1D)
Avila, A., Málaga, I., Sirsi, D., Kayani, S., Primeaux, S., Kathote, G. A., Jakkamsetti, V., Kallem, R. R., Putnam, W. C., Park, J. Y., Shinnar, S. & Pascual, J. M., Dec 2023, In: Scientific reports. 13, 1, 8951.Research output: Contribution to journal › Article › peer-review
Open Access -
Comorbidities in patients with central centrifugal cicatricial alopecia: A retrospective chart review of 53 patients
Leung, B., Lindley, L., Reisch, J., Glass, D. A. & Ayoade, K., Feb 2023, In: Journal of the American Academy of Dermatology. 88, 2, p. 461-463 3 p.Research output: Contribution to journal › Article › peer-review
5 Scopus citations -
Comprehensive isotopomer analysis of glutamate and aspartate in small tissue samples
Cai, F., Bezwada, D., Cai, L., Mahar, R., Wu, Z., Chang, M. C., Pachnis, P., Yang, C., Kelekar, S., Gu, W., Brooks, B., Ko, B., Vu, H. S., Mathews, T. P., Zacharias, L. G., Martin-Sandoval, M., Do, D., Oaxaca, K. C., Jin, E. S., Margulis, V., & 3 others, Oct 3 2023, In: Cell Metabolism. 35, 10, p. 1830-1843.e5Research output: Contribution to journal › Article › peer-review
Open Access -
Computational analysis of regulatory regions in human protein kinases
Pei, J. & Cong, Q., Oct 2023, In: Protein Science. 32, 10, e4764.Research output: Contribution to journal › Article › peer-review
Open Access -
Critical role of antioxidant programs in enzalutamide-resistant prostate cancer
Blatt, E. B., Parra, K., Neeb, A., Buroni, L., Bogdan, D., Yuan, W., Gao, Y., Gilbreath, C., Paschalis, A., Carreira, S., DeBerardinis, R. J., Mani, R. S., de Bono, J. S. & Raj, G. V., Jul 21 2023, In: Oncogene. 42, 30, p. 2347-2359 13 p.Research output: Contribution to journal › Article › peer-review
Open Access1 Scopus citations -
Disabling Uncompetitive Inhibition of Oncogenic IDH Mutations Drives Acquired Resistance
Lyu, J., Liu, Y., Gong, L., Chen, M., Madanat, Y. F., Zhang, Y., Cai, F., Gu, Z., Cao, H., Kaphle, P., Kim, Y. J., Kalkan, F. N., Stephens, H., Dickerson, K. E., Ni, M., Chen, W., Patel, P., Mims, A. S., Borate, U., Burd, A., & 8 others, Jan 9 2023, In: Cancer discovery. 13, 1, p. 170-193 24 p.Research output: Contribution to journal › Article › peer-review
Open Access5 Scopus citations -
Disruption of the autism gene and chromatin regulator KDM5A alters hippocampal cell identity
Hayek, L. E., DeVries, D., Gogate, A., Aiken, A., Kaur, K. & Chahrour, M. H., Nov 2023, In: Science Advances. 9, 47, eadi0074.Research output: Contribution to journal › Article › peer-review
Open Access -
Dissecting molecular, pathological, and clinical features associated with tumor neural/neuroendocrine heterogeneity
Cai, L., DeBerardinis, R. J., Xiao, G., Minna, J. D. & Xie, Y., Jun 16 2023, In: iScience. 26, 6, 106983.Research output: Contribution to journal › Article › peer-review
Open Access -
DPAM: A domain parser for AlphaFold models
Zhang, J., Schaeffer, R. D., Durham, J., Cong, Q. & Grishin, N. V., Feb 2023, In: Protein Science. 32, 2, e4548.Research output: Contribution to journal › Article › peer-review
Open Access8 Scopus citations -
Endothelial ERα promotes glucose tolerance by enhancing endothelial insulin transport to skeletal muscle
Sacharidou, A., Chambliss, K., Peng, J., Barrera, J., Tanigaki, K., Luby-Phelps, K., Özdemir, İ., Khan, S., Sirsi, S. R., Kim, S. H., Katzenellenbogen, B. S., Katzenellenbogen, J. A., Kanchwala, M., Sathe, A. A., Lemoff, A., Xing, C., Hoyt, K., Mineo, C. & Shaul, P. W., Dec 2023, In: Nature communications. 14, 1, 4989.Research output: Contribution to journal › Article › peer-review
Open Access2 Scopus citations