Barth syndrome
Clarke, Sarah L N, Bowron, Ann, Gonzalez, Iris L, Groves, Sarah J, Newbury-Ecob, Ruth, Clayton, Nicol, Martin, Robin P, Tsai-Goodman, Beverly, Garratt, Vanessa, Ashworth, Michael, Bowen, Valerie M, McCurdy, Katherine R, Damin, Michaela K, Spencer, Carolyn T, Toth, Matthew J, Kelley, Richard I, Steward, Colin G
Published in Orphanet journal of rare diseases (12.02.2013)
Published in Orphanet journal of rare diseases (12.02.2013)
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Journal Article
Gulf war illness: a tale of two genomes
Golomb, Beatrice A, Kelley, Richard I, Han, Jun Hee, Miller, Bruce, Bui, Leeann
Published in BMC research notes (21.08.2024)
Published in BMC research notes (21.08.2024)
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Journal Article
Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome
Basel-Vanagaite, Lina, Dallapiccola, Bruno, Ramirez-Solis, Ramiro, Segref, Alexandra, Thiele, Holger, Edwards, Andrew, Arends, Mark J., Miró, Xavier, White, Jacqueline K., Désir, Julie, Abramowicz, Marc, Dentici, Maria Lisa, Lepri, Francesca, Hofmann, Kay, Har-Zahav, Adi, Ryder, Edward, Karp, Natasha A., Estabel, Jeanne, Gerdin, Anna-Karin B., Podrini, Christine, Ingham, Neil J., Altmüller, Janine, Nürnberg, Gudrun, Frommolt, Peter, Abdelhak, Sonia, Pasmanik-Chor, Metsada, Konen, Osnat, Kelley, Richard I., Shohat, Mordechai, Nürnberg, Peter, Flint, Jonathan, Steel, Karen P., Hoppe, Thorsten, Kubisch, Christian, Adams, David J., Borck, Guntram
Published in American journal of human genetics (07.12.2012)
Published in American journal of human genetics (07.12.2012)
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Journal Article
Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup
Strauss, Kevin A., DuBiner, Lauren, Simon, Mariella, Zaragoza, Michael, Sengupta, Partho P., Li, Peng, Narula, Navneet, Dreike, Sandra, Platt, Julia, Procaccio, Vincent, Ortiz-González, Xilma R., Puffenberger, Erik G., Kelley, Richard I., Morton, D. Holmes, Narula, Jagat, Wallace, Douglas C.
Published in Proceedings of the National Academy of Sciences - PNAS (26.02.2013)
Published in Proceedings of the National Academy of Sciences - PNAS (26.02.2013)
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Journal Article
Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrain
Driver, Ashley M, Kratz, Lisa E, Kelley, Richard I, Stottmann, Rolf W
Published in Neurobiology of disease (01.07.2016)
Published in Neurobiology of disease (01.07.2016)
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Journal Article
Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay
He, Miao, Kratz, Lisa E, Michel, Joshua J, Vallejo, Abbe N, Ferris, Laura, Kelley, Richard I, Hoover, Jacqueline J, Jukic, Drazen, Gibson, K Michael, Wolfe, Lynne A, Ramachandran, Dhanya, Zwick, Michael E, Vockley, Jerry
Published in The Journal of clinical investigation (01.03.2011)
Published in The Journal of clinical investigation (01.03.2011)
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Journal Article
Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies
Campbell, Kevin P, Michele, Daniel E, Barresi, Rita, Kanagawa, Motoi, Saito, Fumiaki, Cohn, Ronald D, Satz, Jakob S, Dollar, James, Nishino, Ichizo, Kelley, Richard I, Somer, Hannu, Straub, Volker, Mathews, Katherine D, Moore, Steven A
Published in Nature (London) (25.07.2002)
Published in Nature (London) (25.07.2002)
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Journal Article
Remodeling of Cardiolipin by Phospholipid Transacylation
Xu, Yang, Kelley, Richard I., Blanck, Thomas J.J., Schlame, Michael
Published in The Journal of biological chemistry (19.12.2003)
Published in The Journal of biological chemistry (19.12.2003)
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Journal Article
Abnormalities of cholesterol metabolism in autism spectrum disorders
Tierney, Elaine, Bukelis, Irena, Thompson, Richard E., Ahmed, Khalid, Aneja, Alka, Kratz, Lisa, Kelley, Richard I.
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.09.2006)
Published in American journal of medical genetics. Part B, Neuropsychiatric genetics (05.09.2006)
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Journal Article
Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo
Stottmann, Rolf W, Turbe-Doan, Annick, Tran, Pamela, Kratz, Lisa E, Moran, Jennifer L, Kelley, Richard I, Beier, David R
Published in PLoS genetics (01.09.2011)
Published in PLoS genetics (01.09.2011)
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Journal Article
Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation
Sukhanova, Anna, Gorin, Andrey, Serebriiskii, Ilya G, Gabitova, Linara, Zheng, Hui, Restifo, Diana, Egleston, Brian L, Cunningham, David, Bagnyukova, Tetyana, Liu, Hanqing, Nikonova, Anna, Adams, Gregory P, Zhou, Yan, Yang, Dong-Hua, Mehra, Ranee, Burtness, Barbara, Cai, Kathy Q, Klein-Szanto, Andres, Kratz, Lisa E, Kelley, Richard I, Weiner, Louis M, Herman, Gail E, Golemis, Erica A, Astsaturov, Igor
Published in Cancer discovery (01.01.2013)
Published in Cancer discovery (01.01.2013)
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Journal Article
Diagnosis and treatment of maple syrup disease: a study of 36 patients
Morton, D Holmes, Strauss, Kevin A, Robinson, Donna L, Puffenberger, Erik G, Kelley, Richard I
Published in Pediatrics (Evanston) (01.06.2002)
Published in Pediatrics (Evanston) (01.06.2002)
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Journal Article
Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism
Weaver, David D., Solomon, Benjamin D., Akin-Samson, Kelly, Kelley, Richard I., Muenke, Maximilian
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.02.2010)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (15.02.2010)
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Journal Article
A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1
Johnston, Jennifer J., Kelley, Richard I., Crawford, Thomas O., Morton, D. Holmes, Agarwala, Richa, Koch, Thorsten, Schäffer, Alejandro A., Francomano, Clair A., Biesecker, Leslie G.
Published in American journal of human genetics (01.10.2000)
Published in American journal of human genetics (01.10.2000)
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Journal Article
Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies
Wang, Gang, McCain, Megan L, Yang, Luhan, He, Aibin, Pasqualini, Francesco Silvio, Agarwal, Ashutosh, Yuan, Hongyan, Jiang, Dawei, Zhang, Donghui, Zangi, Lior, Geva, Judith, Roberts, Amy E, Ma, Qing, Ding, Jian, Chen, Jinghai, Wang, Da-Zhi, Li, Kai, Wang, Jiwu, Wanders, Ronald J A, Kulik, Wim, Vaz, Frédéric M, Laflamme, Michael A, Murry, Charles E, Chien, Kenneth R, Kelley, Richard I, Church, George M, Parker, Kevin Kit, Pu, William T
Published in Nature medicine (01.06.2014)
Published in Nature medicine (01.06.2014)
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Journal Article
Clinical laboratory studies in Barth Syndrome
Vernon, Hilary J., Sandlers, Yana, McClellan, Rebecca, Kelley, Richard I.
Published in Molecular genetics and metabolism (01.06.2014)
Published in Molecular genetics and metabolism (01.06.2014)
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Journal Article
A Pilot Study of Bioenergetic Marker Relationships in Gulf War Illness: Phosphocreatine Recovery vs. Citric Acid Cycle Intermediates
Golomb, Beatrice A, Koslik, Hayley J, Han, Jun Hee, Preger Guida, Anna Helena, Hamilton, Gavin, Kelley, Richard I
Published in International journal of environmental research and public health (09.02.2021)
Published in International journal of environmental research and public health (09.02.2021)
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Journal Article
A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder
Puffenberger, Erik G., Jinks, Robert N., Wang, Heng, Xin, Baozhong, Fiorentini, Christopher, Sherman, Eric A., Degrazio, Dominick, Shaw, Calvin, Sougnez, Carrie, Cibulskis, Kristian, Gabriel, Stacey, Kelley, Richard I., Morton, D. Holmes, Strauss, Kevin A.
Published in Human mutation (01.12.2012)
Published in Human mutation (01.12.2012)
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Journal Article
Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype-specific manner
Clark, Paul J., Thompson, Alexander J., Vock, David M., Kratz, Lisa E., Tolun, Adviye A., Muir, Andrew J., McHutchison, John G., Subramanian, Mani, Millington, David M., Kelley, Richard I., Patel, Keyur
Published in Hepatology (Baltimore, Md.) (01.07.2012)
Published in Hepatology (Baltimore, Md.) (01.07.2012)
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