Barth syndrome von 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

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Gulf war illness: a tale of two genomes von Golomb, Beatrice A, Kelley, Richard I, Han, Jun Hee, Miller, Bruce, Bui, Leeann

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Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome von 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

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Mitochondrial disease in autism spectrum disorder patients: a cohort analysis von Weissman, Jacqueline R, Kelley, Richard I, Bauman, Margaret L, Cohen, Bruce H, Murray, Katherine F, Mitchell, Rebecca L, Kern, Rebecca L, Natowicz, Marvin R

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Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup von 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.

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Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrain von Driver, Ashley M, Kratz, Lisa E, Kelley, Richard I, Stottmann, Rolf W

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Post-translational disruption of dystroglycan-ligand interactions in congenital muscular dystrophies von 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

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Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay von 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

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Remodeling of Cardiolipin by Phospholipid Transacylation von Xu, Yang, Kelley, Richard I., Blanck, Thomas J.J., Schlame, Michael

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Abnormalities of cholesterol metabolism in autism spectrum disorders von Tierney, Elaine, Bukelis, Irena, Thompson, Richard E., Ahmed, Khalid, Aneja, Alka, Kratz, Lisa, Kelley, Richard I.

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Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo von Stottmann, Rolf W, Turbe-Doan, Annick, Tran, Pamela, Kratz, Lisa E, Moran, Jennifer L, Kelley, Richard I, Beier, David R

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Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGF receptor inhibitors via increased EGF receptor degradation von 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

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Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies von 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

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Diagnosis and Treatment of Maple Syrup Disease: A Study of 36 Patients von Morton, D. Holmes, Strauss, Kevin A, Robinson, Donna L, Puffenberger, Erik G, Kelley, Richard I

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A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1 von 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.

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Clinical laboratory studies in Barth Syndrome von Vernon, Hilary J., Sandlers, Yana, McClellan, Rebecca, Kelley, Richard I.

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A Pilot Study of Bioenergetic Marker Relationships in Gulf War Illness: Phosphocreatine Recovery vs. Citric Acid Cycle Intermediates von Golomb, Beatrice A., Koslik, Hayley J., Han, Jun Hee, Preger Guida, Anna Helena, Hamilton, Gavin, Kelley, Richard I.

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A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder von 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.

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Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype-specific manner von 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

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A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome von Wassif, Christopher A., Kratz, Lisa, Sparks, Susan E., Wheeler, Courtney, Bianconi, Simona, Gropman, Andrea, Calis, Karim A., Kelley, Richard I., Tierney, Elaine, Porter, Forbes D.

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