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1. 1
   online resource

   INBORN ERRORS OF STEROL BIOSYNTHESIS

   by Kelley, Richard I., Herman, Gail E.
   Published in Annual Review of Genomics and Human Genetics (2001)

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2. 2
   online resource

   Disorders of sterol biosynthesis

   by Furtado, Larissa V., Kelley, Richard I., Opitz, John M.
   Published in Translational Science of Rare Diseases (2016)

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3. 3
   online resource

   Remodeling of Cardiolipin by Phospholipid Transacylation

   by Xu, Yang, Kelley, Richard I., Blanck, Thomas J.J., Schlame, Michael
   Published in Journal of Biological Chemistry (2003)

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4. 4
   online resource

   Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome

   by Takada, Kazuki, Aksentijevich, Ivona, Mahadevan, Vijayabhanu, Dean, Jane A., Kelley, Richard I., Kastner, Daniel L.
   Published in Arthritis & Rheumatism (2003)

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5. 5
   online resource

   Equine Type Estrogens Produced by a Pregnant Woman Carrying a Smith-Lemli-Opitz Syndrome Fetus

   by Shackleton, Cedric H.L., Roitman, Esther, Kratz, Lisa E., Kelley, Richard I.
   Published in The Journal of Clinical Endocrinology & Metabolism (1999)

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6. 6
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   A Pilot Study of Bioenergetic Marker Relationships in Gulf War Illness: Phosphocreatine Recovery vs. Citric Acid Cycle Intermediates

   by 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 (2021)

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7. 7
   online resource

   Cholesterol Metabolism Is Required for Intracellular Hedgehog Signal Transduction In Vivo

   by Stottmann, Rolf W., Turbe-Doan, Annick, Tran, Pamela, Kratz, Lisa E., Moran, Jennifer L., Kelley, Richard I., Beier, David R.
   Published in PLoS Genetics (2011)

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8. 8
   online resource

   Mutation Characterization and Genotype-Phenotype Correlation in Barth Syndrome

   by Johnston, Jennifer, Kelley, Richard I., Feigenbaum, Annette, Cox, Gerald F., Iyer, Geeta S., Funanage, Vicky L., Proujansky, Roy
   Published in The American Journal of Human Genetics (1997)

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9. 9
   online resource

   A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome

   by 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.
   Published in Genetics in Medicine (2017)

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10. 10
    online resource

    A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3

    by Pei, Wuhong, Kratz, Lisa E., Bernardini, Isa, Sood, Raman, Yokogawa, Tohei, Dorward, Heidi, Ciccone, Carla, Kelley, Richard I., Anikster, Yair, Burgess, Harold A., Huizing, Marjan, Feldman, Benjamin
    Published in Development (2010)

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11. 11
    online resource

    Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis

    by Weissman, Jacqueline R., Kelley, Richard I., Bauman, Margaret L., Cohen, Bruce H., Murray, Katherine F., Mitchell, Rebecca L., Kern, Rebecca L., Natowicz, Marvin R.
    Published in PLoS ONE (2008)

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12. 12
    online resource

    Phospholipid abnormalities in children with Barth syndrome

    by Schlame, Michael, Kelley, Richard I, Feigenbaum, Annette, Towbin, Jeffrey A, Heerdt, Paul M, Schieble, Thomas, Wanders, Ronald J.A, DiMauro, Salvatore, Blanck, Thomas J.J
    Published in Journal of the American College of Cardiology (2003)

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13. 13
    online resource

    Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ14-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene

    by Waterham, Hans R., Koster, Janet, Mooyer, Petra, Noort, Gerard van, Kelley, Richard I., Wilcox, William R., Ronald Wanders, J.A., Raoul Hennekam, C.M., Jan Oosterwijk, C.
    Published in The American Journal of Human Genetics (2003)

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14. 14
    online resource

    Characterization of mutations in 22 females with X-linked dominant chondrodysplasia punctata (Happle syndrome)

    by Herman, Gail E., Kelley, Richard I., Pureza, V., Smith, D., Kopacz, Kevin, Pitt, James, Sutphen, Rebecca, Sheffield, Leslie J., Metzenberg, Aida B.
    Published in Genetics in Medicine (2002)

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15. 15
    online resource

    Mutations in the 3β-Hydroxysterol Δ24-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis

    by Waterham, Hans R., Koster, Janet, Romeijn, Gerrit Jan, Hennekam, Raoul C.M., Vreken, Peter, Andersson, Hans C., FitzPatrick, David R., Kelley, Richard. I., Wanders, Ronald J.A.
    Published in The American Journal of Human Genetics (2001)

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16. 16
    online resource

    Sterols in blood of normal and Smith-Lemli-Opitz subjects

    by Ruan, Benfang, Wilson, William K., Pang, Jihai, Gerst, Nicolas, Pinkerton, Frederick D., Tsai, James, Kelley, Richard I., Whitby, Frank G., Milewicz, Dianna M., Garbern, James, Schroepfer, George J.
    Published in Journal of Lipid Research (2001)

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17. 17
    online resource

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

    by 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 The American Journal of Human Genetics (2000)

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18. 18
    online resource

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

    by 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 (2012)

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19. 19
    online resource

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

    by 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 Journal of Clinical Investigation (2011)

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20. 20
    online resource

    Targeting C4-Demethylating Genes in the Cholesterol Pathway Sensitizes Cancer Cells to EGF Receptor Inhibitors via Increased EGF Receptor Degradation

    by 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 (2013)

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