Loading...

Renata Gallagher, MD, PhD

TitleProfessor
InstitutionUniversity of California San Francisco
DepartmentPediatrics
Address550 16th. Street
San Francisco CA 94158
Phone415-476-3572
vCardDownload vCard

    Collapse Bibliographic 
    Collapse Publications
    Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
    List All   |   Timeline
    1. Gallagher R, Pollard L, Scott AI, Huguenin S, Goodman S, Sun Q. Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 Mar 15. PMID: 29543224.
      View in: PubMed
    2. Laemmle A, Gallagher R, Keogh A, Stricker T, Gautschi M, Nuoffer JM, Baumgartner MR, Häberle J. Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD). PLoS One. 2016; 11(4):e0153358. PMID: 27070778.
      View in: PubMed
    3. Gelfand AA, Gallagher R. Cyclic vomiting syndrome versus inborn errors of metabolism: A review with clinical recommendations. Headache. 2016 Jan; 56(1):215-21. PMID: 26678622; PMCID: PMC4728152 [Available on 01/01/17].
      View in: PubMed, PubMed Central
    4. Ferdinandusse S, Friederich MW, Burlina A, Ruiter JP, Coughlin CR, Dishop MK, Gallagher R, Bedoyan JK, Vaz FM, Waterham HR, Gowan K, Chatfield K, Bloom K, Bennett MJ, Elpeleg O, Van Hove JL, Wanders RJ. Clinical and biochemical characterization of four patients with mutations in ECHS1. Orphanet J Rare Dis. 2015 Jun 18; 10:79. PMID: 26081110; PMCID: PMC4474341.
      View in: PubMed, PubMed Central
    5. Coughlin CR, van Karnebeek CD, Al-Hertani W, Shuen AY, Jaggumantri S, Jack RM, Gaughan S, Burns C, Mirsky DM, Gallagher R, Van Hove JL. Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):35-43. PMID: 26026794.
      View in: PubMed
    6. Chatfield KC, Coughlin CR, Friederich MW, Gallagher R, Hesselberth JR, Lovell MA, Ofman R, Swanson MA, Thomas JA, Wanders RJ, Wartchow EP, Van Hove JL. Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing. Mitochondrion. 2015 Mar; 21:1-10. PMID: 25575635; PMCID: PMC4355277.
      View in: PubMed, PubMed Central
    7. van Karnebeek CD, Stockler-Ipsiroglu S, Jaggumantri S, Assmann B, Baxter P, Buhas D, Bok LA, Cheng B, Coughlin CR, Das AM, Giezen A, Al-Hertani W, Ho G, Meyer U, Mills P, Plecko B, Struys E, Ueda K, Albersen M, Verhoeven N, Gospe SM, Gallagher R, Van Hove JK, Hartmann H. Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations. JIMD Rep. 2014; 15:1-11. PMID: 24748525; PMCID: PMC4270869.
      View in: PubMed, PubMed Central
    8. Gallagher R, Lam C, Wong D, Cederbaum S, Sokol RJ. Significant hepatic involvement in patients with ornithine transcarbamylase deficiency. J Pediatr. 2014 Apr; 164(4):720-725.e6. PMID: 24485820; PMCID: PMC4070427.
      View in: PubMed, PubMed Central
    9. Wilson JM, Shchelochkov OA, Gallagher R, Batshaw ML. Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency. Mol Genet Metab. 2012 Feb; 105(2):263-5. PMID: 22129577; PMCID: PMC3273986.
      View in: PubMed, PubMed Central
    10. Bireley WR, Van Hove JL, Gallagher R, Fenton LZ. Urea cycle disorders: brain MRI and neurological outcome. Pediatr Radiol. 2012 Apr; 42(4):455-62. PMID: 21989980.
      View in: PubMed
    11. Scharer G, Brocker C, Vasiliou V, Creadon-Swindell G, Gallagher R, Spector E, Van Hove JL. The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1. J Inherit Metab Dis. 2010 Oct; 33(5):571-81. PMID: 20814824; PMCID: PMC3112356.
      View in: PubMed, PubMed Central
    12. Quadros EV, Lai SC, Nakayama Y, Sequeira JM, Hannibal L, Wang S, Jacobsen DW, Fedosov S, Wright E, Gallagher R, Anastasio N, Watkins D, Rosenblatt DS. Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12). Hum Mutat. 2010 Aug; 31(8):924-9. PMID: 20524213; PMCID: PMC2909035.
      View in: PubMed, PubMed Central
    13. Van Hove JL, Saenz MS, Thomas JA, Gallagher R, Lovell MA, Fenton LZ, Shanske S, Myers SM, Wanders RJ, Ruiter J, Turkenburg M, Waterham HR. Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy. Pediatr Res. 2010 Aug; 68(2):159-64. PMID: 20453710; PMCID: PMC2928220.
      View in: PubMed, PubMed Central
    14. Seminara J, Tuchman M, Krivitzky L, Krischer J, Lee HS, Lemons C, Baumgartner M, Cederbaum S, Diaz GA, Feigenbaum A, Gallagher R, Harding CO, Kerr DS, Lanpher B, Lee B, Lichter-Konecki U, McCandless SE, Merritt JL, Oster-Granite ML, Seashore MR, Stricker T, Summar M, Waisbren S, Yudkoff M, Batshaw ML. Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Mol Genet Metab. 2010; 100 Suppl 1:S97-105. PMID: 20188616; PMCID: PMC2858794.
      View in: PubMed, PubMed Central
    15. Rosenberg EH, Struys EA, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Gallagher R, Scharer G, Van Hove JL, Jakobs C, Salomons GS. Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification. Mol Genet Metab. 2009 Aug; 97(4):312-4. PMID: 19501531.
      View in: PubMed
    16. Gallagher R, Van Hove JL, Scharer G, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Salomons GS, Rosenberg EH, Struys EA, Jakobs C. Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Ann Neurol. 2009 May; 65(5):550-6. PMID: 19142996.
      View in: PubMed
    17. Shchelochkov OA, Li FY, Geraghty MT, Gallagher R, Van Hove JL, Lichter-Konecki U, Fernhoff PM, Copeland S, Reimschisel T, Cederbaum S, Lee B, Chinault AC, Wong LJ. High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH. Mol Genet Metab. 2009 Mar; 96(3):97-105. PMID: 19138872.
      View in: PubMed
    18. Longo N, Schrijver I, Vogel H, Pique LM, Cowan TM, Pasquali M, Steinberg GK, Hedlund GL, Ernst SL, Gallagher R, Enns GM. Progressive cerebral vascular degeneration with mitochondrial encephalopathy. Am J Med Genet A. 2008 Feb 01; 146A(3):361-7. PMID: 18203188.
      View in: PubMed
    19. Urban TJ, Gallagher R, Brown C, Castro RA, Lagpacan LL, Brett CM, Taylor TR, Carlson EJ, Ferrin TE, Burchard EG, Packman S, Giacomini KM. Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). Mol Pharmacol. 2006 Nov; 70(5):1602-11. PMID: 16931768.
      View in: PubMed
    20. Gallagher R, Cowan TM, Goodman SI, Enns GM. Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed. Mol Genet Metab. 2005 Nov; 86(3):417-20. PMID: 16183314.
      View in: PubMed
    21. Zweier C, Thiel CT, Dufke A, Crow YJ, Meinecke P, Suri M, Ala-Mello S, Beemer F, Bernasconi S, Bianchi P, Bier A, Devriendt K, Dimitrov B, Firth H, Gallagher R, Garavelli L, Gillessen-Kaesbach G, Hudgins L, Kääriäinen H, Karstens S, Krantz I, Mannhardt A, Medne L, Mücke J, Kibaek M, Krogh LN, Peippo M, Rittinger O, Schulz S, Schelley SL, Temple IK, Dennis NR, Van der Knaap MS, Wheeler P, Yerushalmi B, Zenker M, Seidel H, Lachmeijer A, Prescott T, Kraus C, Lowry RB, Rauch A. Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet. 2005 Apr-Jun; 48(2):97-111. PMID: 16053902.
      View in: PubMed
    22. Gallagher R, Pils B, Albalwi M, Francke U. Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome. Am J Hum Genet. 2002 Sep; 71(3):669-78. PMID: 12154412; PMCID: PMC379204.
      View in: PubMed, PubMed Central
    Renata's Networks
    Concepts
    Derived automatically from this person's publications.
    See all (156) concept(s)
    _
    Co-Authors
    People in Profiles who have published with this person.
    See all (8) people
    _
    Related Authors
    People who share related concepts with this person.
    See all (59) people
    _
    ↑