RichardIKelleyMD

PubMed

• 1 citations
  Barth syndrome with severe dilated cardiomyopathy and growth hormone resistance: a case report.
  Joel A Vanderniet, Paul Z. Benitez-Aguirre, Carolyn Broderick, Richard I. Kelley, Shanti Balasubramaniam> ;Journal of Pediatric Endocrinology & Metabolism. 2021 Apr 12
• 3 citations
  A Pilot Study of Bioenergetic Marker Relationships in Gulf War Illness: Phosphocreatine Recovery vs. Citric Acid Cycle Intermediates
  Beatrice A. Golomb, Hayley J. Koslik, Jun Hee Han, Anna Helena Preger Guida, Gavin Hamilton, Richard I. Kelley> ;International Journal of Environmental Research and Public Health. 2021 Feb 9
• 26 citations
  Randomized open-label trial of dextromethorphan in Rett syndrome
  Constance Smith-Hicks, Siddharth Gupta, Joshua B. Ewen, Manisha Hong, Lisa E. Kratz, Richard I. Kelley, Elaine Tierney, Rebecca Vaurio, Genila Bibat, Abanti Sanyal, Ga...> ;Neurology. 2017 Oct 17
• 22 citations
  A placebo-controlled trial of simvastatin therapy in Smith-Lemli-Opitz syndrome.
  Christopher A. Wassif, Lisa E. Kratz, Susan Sparks, Courtney Wheeler, Simona Bianconi, Andrea L. Gropman, Karim A. Calis, Richard I. Kelley, Elaine Tierney, Forbes D. ...> ;Genetics in Medicine. 2017 Mar 1
• 20 citations
  Altered cholesterol biosynthesis causes precocious neurogenesis in the developing mouse forebrain.
  Ashley M. Driver, Lisa E. Kratz, Richard I. Kelley, Rolf W. Stottmann> ;Neurobiology of Disease. 2016 Jul 1
• 50 citations
  A specific mutation in TBL1XR1 causes Pierpont syndrome
  Charlotte A Heinen, Aldo Jongejan, Peter J. Watson, B. Redeker, Anita Boelen, Olga Boudzovitch-Surovtseva, Francesca Forzano, Roel Hordijk, Richard I. Kelley, Ann Hask...> ;Journal of Medical Genetics. 2016 May 1
• 30 citations
  Clinical laboratory studies in Barth Syndrome.
  Hilary J. Vernon, Yana Sandlers, Rebecca McClellan, Richard I. Kelley> ;Molecular Genetics and Metabolism. 2014 Jun 1
• 582 citations
  Modeling the mitochondrial cardiomyopathy of Barth syndrome with induced pluripotent stem cell and heart-on-chip technologies
  Gang Wang, Megan L. McCain, Luhan Yang, Aibin He, Francesco S. Pasqualini, Ashutosh Agarwal, Hongyan Yuan, Dawei Jiang, Donghui Zhang, Lior Zangi, Judith Geva, Amy E. ...> ;Nature Medicine. 2014 Jun 1
• 212 citations
  Barth syndrome
  Sarah Ln Clarke, Ann Bowron, Iris L. Gonzalez, Sarah J. Groves, Ruth Newbury-Ecob, Nicol Clayton, Robin P. Martin, Beverly Tsai-Goodman, Vanessa Garratt, Michael Ashwo...> ;Orphanet Journal of Rare Diseases. 2013 Dec 1
• Laryngeal fractures in lacrosse due to high speed ball impact.
  French, C.,Kelley, R.> ;JAMA Otolaryngol Head Neck Surg. 2013 Jul
• 78 citations
  Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup
  Kevin A. Strauss, Lauren DuBiner, Mariella Simon, Michael V. Zaragoza, Partho P. Sengupta, Peng Li, Navneet Narula, Sandra Dreike, Julia Platt, Vincent Procaccio, Xilm...> ;Proceedings of the National Academy of Sciences of the United States of America. 2013 Feb 26
• 52 citations
  Targeting C4-Demethylating Genes in the Cholesterol Pathway Sensitizes Cancer Cells to EGF Receptor Inhibitors via Increased EGF Receptor Degradation
  Anna Sukhanova, Andrey Gorin, Ilya G. Serebriiskii, Linara Gabitova, Hui Zheng, Diana Restifo, Brian L. Egleston, David Cunningham, Tetyana V. Bagnyukova, Hanqing Liu,...> ;Cancer Discovery. 2013 Jan 1
• 70 citations
  Deficiency for the Ubiquitin Ligase UBE3B in a Blepharophimosis-Ptosis-Intellectual-Disability Syndrome
  Lina Basel-Vanagaite, Bruno Dallapiccola, Ramiro Ramirez-Solis, Alexandra Segref, Holger Thiele, Andrew Edwards, Mark J. Arends, Xavier Miró, Jacqueline K. White, Juli...> ;American Journal of Human Genetics. 2012 Dec 7
• 75 citations
  A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder
  Erik G. Puffenberger, Robert N. Jinks, Heng Wang, Baozhong Xin, Christopher J. Fiorentini, Eric A. Sherman, Dominick Degrazio, Calvin Shaw, Carrie Sougnez, Kristian Ci...> ;Human Mutation. 2012 Dec 1
• 60 citations
  Hepatitis C virus selectively perturbs the distal cholesterol synthesis pathway in a genotype-specific manner
  Paul J. Clark, Alexander J. Thompson, David M. Vock, Lisa E. Kratz, Adviye A. Tolun, Andrew J. Muir, John G. McHutchison, Mani Subramanian, David M. Millington, Richar...> ;Hepatology. 2012 Jul 1
• 38 citations
  Cholesterol metabolism is required for intracellular hedgehog signal transduction in vivo.
  Rolf W. Stottmann, Annick Turbe-Doan, Pamela V. Tran, Lisa E. Kratz, Jennifer L. Moran, Richard I. Kelley, David R. Beier> ;Plos Genetics. 2011 Sep 1
• 42 citations
  Desmosterolosis—phenotypic and molecular characterization of a third case and review of the literature
  Christian P. Schaaf, Janet Koster, Panagiotis Katsonis, Lisa E. Kratz, Oleg A. Shchelochkov, Fernando Scaglia, Richard I. Kelley, Olivier Lichtarge, Hans R. Waterham, ...> ;American Journal of Medical Genetics. Part A. 2011 Jun 10
• 73 citations
  Mutations in the human SC4MOL gene encoding a methyl sterol oxidase cause psoriasiform dermatitis, microcephaly, and developmental delay
  Miao He, Lisa E. Kratz, Joshua J. Michel, Abbe N. Vallejo, Laura K. Ferris, Richard I. Kelley, Jacqueline J. Hoover, Drazen M. Jukic, K. Michael Gibson, Lynne A. Wolfe...> ;The Journal of Clinical Investigation. 2011 Mar 1
• 40 citations
  Hypomorphic temperature-sensitive alleles of NSDHL cause CK syndrome.
  Keith W. McLarren, Tesa M. Severson, Christèle du Souich, David W. Stockton, Lisa E. Kratz, David Cunningham, Glenda Hendson, Ryan D. Morin, Diane Wu, Jessica E. Paul,...> ;American Journal of Human Genetics. 2010 Dec 10
• 33 citations
  A model of Costeff Syndrome reveals metabolic and protective functions of mitochondrial OPA3
  Wuhong Pei, Lisa E. Kratz, Isa Bernardini, Raman Sood, Tohei Yokogawa, Heidi Dorward, Carla Ciccone, Richard I. Kelley, Yair Anikster, Harold A. Burgess, Marjan Huizin...> ;Development. 2010 Aug 1
• 35 citations
  Cyclopia (synophthalmia) in Smith-Lemli-Opitz syndrome: First reported case and consideration of mechanism.
  David D. Weaver, Benjamin D. Solomon, Kelly Akin-Samson, Richard I. Kelley, Maximilian Muenke> ;American Journal of Medical Genetics. Part C, Seminars in Medical Genetics. 2010 Feb 15
• 169 citations
  Mitochondrial Disease in Autism Spectrum Disorder Patients: A Cohort Analysis
  Jacqueline R. Weissman, Richard I. Kelley, Margaret L. Bauman, Bruce H. Cohen, Katherine F. Murray, Rebecca L. Mitchell, Rebecca L. Kern, Marvin R. Natowicz> ;Plos One. 2008 Nov 26
• 13 citations
  Resolution of subependymal cysts in neonatal holocarboxylase synthetase deficiency
  Liza A. Squires, Bradford W. Betz, Jason Umfleet, Richard I. Kelley> ;Developmental Medicine and Child Neurology. 2008 Sep 29
• 13 citations
  X‐linked recessive aqueductal stenosis without macrocephaly
  Richard I. Kelley, Michael T. Mennuti, William F. Hickey, Elaine H. Zackai> ;Clinical Genetics. 2008 Jun 28
• 42 citations
  Age and origin of major Smith-Lemli-Opitz Syndrome (SLOS) mutations in European populations
  Martina Witsch-Baumgartner, Ilona Schwentner, M Gruber, P Benlian, Jaume Bertranpetit, E Bieth, F Chevy, N. Clusellas, Xavier Estivill, G Gasparini, M. Girós, Richard ...> ;Journal of Medical Genetics. 2007 Oct 26
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