Altered Cholesterol Biosynthesis Causes Precocious Neurogenesis in the Developing Mouse Forebrain

Por Driver, Ashley M., Kratz, Lisa E., Kelley, Richard I., Stottmann, Rolf W.
Publicado no Neurobiol Dis (2016)

Cyclopia (Synophthalmia) in Smith-Lemli-Opitz Syndrome – First Reported Case and Consideration of Mechanism

Por Weaver, David D., Solomon, Benjamin D., Akin-Samson, Kelly, Kelley, Richard I., Muenke, Maximilian
Publicado em 2010

Abnormalities of Cholesterol Metabolism in Autism Spectrum Disorders

Por Tierney, Elaine, Bukelis, Irena, Thompson, Richard E., Ahmed, Khalid, Aneja, Alka, Kratz, Lisa, Kelley, Richard I.
Publicado em 2006

Cholesterol Metabolism Is Required for Intracellular Hedgehog Signal Transduction In Vivo

Por Stottmann, Rolf W., Turbe-Doan, Annick, Tran, Pamela, Kratz, Lisa E., Moran, Jennifer L., Kelley, Richard I., Beier, David R.
Publicado em 2011

Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis

Por Weissman, Jacqueline R., Kelley, Richard I., Bauman, Margaret L., Cohen, Bruce H., Murray, Katherine F., Mitchell, Rebecca L., Kern, Rebecca L., Natowicz, Marvin R.
Publicado em 2008

Desmosterolosis—Phenotypic and Molecular Characterization of a Third Case and Review of the Literature

Por Schaaf, Christian P., Koster, Janet, Katsonis, Panagiotis, Kratz, Lisa, Shchelochkov, Oleg A., Scaglia, Fernando, Kelley, Richard I., Lichtarge, Olivier, Waterham, Hans R., Shinawi, Marwan
Publicado no Am J Med Genet A (2011)

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

Por 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.
Publicado em 2000

A Placebo-Controlled Trial of Simvastatin Therapy in Smith-Lemli-Opitz Syndrome

Por 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.
Publicado no Genet Med (2016)

Autosomal Recessive HEM/Greenberg Skeletal Dysplasia Is Caused by 3β-Hydroxysterol Δ(14)-Reductase Deficiency Due to Mutations in the Lamin B Receptor Gene

Por Waterham, Hans R., Koster, Janet, Mooyer, Petra, Noort, Gerard van, Kelley, Richard I., Wilcox, William R., Wanders, Ronald J. A., Hennekam, Raoul C. M., Oosterwijk, Jan C.
Publicado em 2003

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

Por 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
Publicado em 2010

Mutations in the 3β-Hydroxysterol Δ(24)-Reductase Gene Cause Desmosterolosis, an Autosomal Recessive Disorder of Cholesterol Biosynthesis

Por 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.
Publicado em 2001

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

Por 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
Publicado em 2011

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

Por 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.
Publicado em 2013

Barth syndrome

Por Clarke Sarah LN, 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
Publicado em 2013-02-01

Barth syndrome

Por Clarke, Sarah LN, 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
Publicado em 2013

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

Por 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
Publicado em 2012

Modeling the mitochondrial cardiomyopathy of Barth syndrome with iPSC and heart-on-chip technologies

Por 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.
Publicado em 2014

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

Por 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
Publicado em 2012

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

Por McLarren, Keith W., Severson, Tesa M., du Souich, Christèle, Stockton, David W., Kratz, Lisa E., Cunningham, David, Hendson, Glenda, Morin, Ryan D., Wu, Diane, Paul, Jessica E., An, Jianghong, Nelson, Tanya N., Chou, Athena, DeBarber, Andrea E., Merkens, Louise S., Michaud, Jacques L., Waters, Paula J., Yin, Jingyi, McGillivray, Barbara, Demos, Michelle, Rouleau, Guy A., Grzeschik, Karl-Heinz, Smith, Raffaella, Tarpey, Patrick S., Shears, Debbie, Schwartz, Charles E., Gecz, Jozef, Stratton, Michael R., Arbour, Laura, Hurlburt, Jane, Van Allen, Margot I., Herman, Gail E., Zhao, Yongjun, Moore, Richard, Kelley, Richard I., Jones, Steven J.M., Steiner, Robert D., Raymond, F. Lucy, Marra, Marco A., Boerkoel, Cornelius F.
Publicado em 2010