Renata Gallagher, MD, PhD

Title(s)Professor, Pediatrics
SchoolSchool of Medicine
Address550 16th. Street
San Francisco CA 94158
Phone415-476-3572
ORCID ORCID Icon0000-0003-1611-0354 Additional info
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    Toward DNA Sequencing as a Primary Newborn Screen for Treatable Disorders not Amenable to Current Screening
    NIH R21HG011805Jul 1, 2021 - Jun 30, 2023
    Role: Principal Investigator

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    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. to make corrections and additions.
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    1. Clinical Reasoning: A 2-Day-Old Boy With Sudden Cardiac Arrest and Encephalopathy. Neurology. 2021 Jun 22. Holmes BB, Russ JB, Wu YW, Gallagher RC, Gano D. PMID: 34158382.
      View in: PubMed   Mentions:    Fields:    
    2. Opportunities and challenges for the computational interpretation of rare variation in clinically important genes. Am J Hum Genet. 2021 04 01; 108(4):535-548. McInnes G, Sharo AG, Koleske ML, Brown JEH, Norstad M, Adhikari AN, Wang S, Brenner SE, Halpern J, Koenig BA, Magnus DC, Gallagher RC, Giacomini KM, Altman RB. PMID: 33798442.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    3. eP025 The natural history of vitamin B12-responsive cobalamin A-type methylmalonic acidemia. Molecular Genetics and Metabolism. 2021 Apr 1; 132:s18. Ryan Peretz, Samantha McCoy, Jennifer Sloan, Oleg Shchelochkov, Kevin O’Brien, Susan Ferry, Carol Van Ryzin, Jennifer Myles, Scott Paul, Andrea Gropman, Camilo Toro, Audrey Thurm, Joseph Snow, Renata Gallagher, Diana Bianchi, Irini Manoli, Charles Venditti. .
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    4. OP093 One-year results of the placebo-controlled ASCEND trial of olipudase alfa enzyme replacement therapy in adults with chronic acid sphingomyelinase deficiency. Molecular Genetics and Metabolism. 2021 Apr 1; 132:s64-s65. Melissa Wasserstein, Laila Arash-Kaps, Antonio Barbato, Renata Gallagher, Roberto Giugliani, Norberto Guelbert, Carla Hollak, Takayuki Ikezoe, Robin Lachmann, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Jesus Villarrubia, Yixin Chen, Maria Iram Awan, Beth Thurberg, Zaher Atef, Monica Kumar. .
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    5. Adults with chronic acid sphingomyelinase deficiency show significant visceral, pulmonary, and hematologic improvements after enzyme replacement therapy with olipudase-alfa: 1-year results of the ASCEND placebo-controlled trial. Molecular Genetics and Metabolism. 2021 Feb 1; 132(2):s110-s111. Melissa Wasserstein, Laila Arash-Kaps, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto B. Guelbert, Carla Hollak, Takayuki Ikezoe, Robin Lachmann, Oliver Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Jesus Villarrubia, Yixin Chen, Patricia A. Fraser, Beth L. Thurberg, Atef Zaher, Monica Kumar. .
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    6. In utero enzyme replacement therapy in fetuses with lysosomal diseases: A phase I clinical trial. Molecular Genetics and Metabolism. 2021 Feb 1; 132(2):s96. Marisa E. Schwab, Jennifer L. Cohen, Billie Lianoglou, Renata C. Gallagher, Juan M. Gonzalez-Velez, Teresa N. Sparks, Mary E. Norton, Michael H. Gelb, Tim Wood, Priya S. Kishnani, Paul R. Harmatz, Tippi C. MacKenzie. .
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    7. The role of exome sequencing in newborn screening for inborn errors of metabolism. Nat Med. 2020 09; 26(9):1392-1397. Adhikari AN, Gallagher RC, Wang Y, Currier RJ, Amatuni G, Bassaganyas L, Chen F, Kundu K, Kvale M, Mooney SD, Nussbaum RL, Randi SS, Sanford J, Shieh JT, Srinivasan R, Sunderam U, Tang H, Vaka D, Zou Y, Koenig BA, Kwok PY, Risch N, Puck JM, Brenner SE. PMID: 32778825.
      View in: PubMed   Mentions: 11     Fields:    Translation:HumansPHPublic Health
    8. De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism. Am J Hum Genet. 2020 08 06; 107(2):352-363. Guillen Sacoto MJ, Tchasovnikarova IA, Torti E, Forster C, Andrew EH, Anselm I, Baranano KW, Briere LC, Cohen JS, Craigen WJ, Cytrynbaum C, Ekhilevitch N, Elrick MJ, Fatemi A, Fraser JL, Gallagher RC, Guerin A, Haynes D, High FA, Inglese CN, Kiss C, Koenig MK, Krier J, Lindstrom K, Marble M, Meddaugh H, Moran ES, Morel CF, Mu W, Muller EA, Nance J, Natowicz MR, Numis AL, Ostrem B, Pappas J, Stafstrom CE, Streff H, Sweetser DA, Szybowska M, Undiagnosed Diseases Network , Walker MA, Wang W, Weiss K, Weksberg R, Wheeler PG, Yoon G, Kingston RE, Juusola J. PMID: 32693025.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    9. Genomic Analysis of Historical Cases with Positive Newborn Screens for Short-Chain Acyl-CoA Dehydrogenase Deficiency Shows That a Validated Second-Tier Biochemical Test Can Replace Future Sequencing. Int J Neonatal Screen. 2020 Jun; 6(2). Adhikari AN, Currier RJ, Tang H, Turgeon CT, Nussbaum RL, Srinivasan R, Sunderam U, Kwok PY, Brenner SE, Gavrilov D, Puck JM, Gallagher R. PMID: 32802992.
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    10. Translating a novel fetal therapy for lysosomal diseases into clinical care: The race for approval to treat one patient with mucopolysaccharidosis type VII. Molecular Genetics and Metabolism. 2020 Feb 1; 129(2):s132. Marisa Eve Pulcrano, Billie Lianoglou, Juan Gonzalez-Velez, Renata C. Gallagher, Mary E. Norton, Tippi MacKenzie. .
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    11. 83: HyDROPS study: Exome sequencing identifies genetic disorders causing non-immune hydrops fetalis. American Journal of Obstetrics and Gynecology. 2020 Jan 1; 222(1):s68-s69. Teresa N. Sparks, Billie R. Lianoglou, Sachi Patel, Rebecca Adami, Naseem Rangwala, Ilina D. Pluym, Kerry Holliman, Sarah Downum, Jessica Amezcua, Nina M. Boe, Nancy T. Field, Renata Gallagher, Louise C. Laurent, Tippi C. MacKenzie, Aisling M. Murphy, Stephan Sanders, Anne M. Slavotinek, Mary E. Norton. .
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    12. Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients. Mol Genet Metab. 2019 08; 127(4):336-345. Diaz GA, Schulze A, Longo N, Rhead W, Feigenbaum A, Wong D, Merritt JL, Berquist W, Gallagher RC, Bartholomew D, McCandless SE, Smith WE, Harding CO, Zori R, Lichter-Konecki U, Vockley J, Canavan C, Vescio T, Holt RJ, Berry SA. PMID: 31326288.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    13. Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium. Transl Sci Rare Dis. 2018 Dec 20; 3(3-4):157-170. Ah Mew N, Cnaan A, McCarter R, Choi H, Glass P, Rice K, Scavo L, Gillespie CW, Diaz GA, Berry GT, Wong D, Konczal L, McCandless SE, Coughlin Ii CR, Weisfeld-Adams JD, Ficicioglu C, Yudkoff M, Enns GM, Lichter-Konecki U, Gallagher R, Tuchman M. PMID: 30613471.
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    14. Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Nat Commun. 2018 10 03; 9(1):4065. Friederich MW, Timal S, Powell CA, Dallabona C, Kurolap A, Palacios-Zambrano S, Bratkovic D, Derks TGJ, Bick D, Bouman K, Chatfield KC, Damouny-Naoum N, Dishop MK, Falik-Zaccai TC, Fares F, Fedida A, Ferrero I, Gallagher RC, Garesse R, Gilberti M, González C, Gowan K, Habib C, Halligan RK, Kalfon L, Knight K, Lefeber D, Mamblona L, Mandel H, Mory A, Ottoson J, Paperna T, Pruijn GJM, Rebelo-Guiomar PF, Saada A, Sainz B, Salvemini H, Schoots MH, Smeitink JA, Szukszto MJ, Ter Horst HJ, van den Brandt F, van Spronsen FJ, Veltman JA, Wartchow E, Wintjes LT, Zohar Y, Fernández-Moreno MA, Baris HN, Donnini C, Minczuk M, Rodenburg RJ, Van Hove JLK. PMID: 30283131.
      View in: PubMed   Mentions: 14     Fields:    Translation:HumansAnimalsCells
    15. Cobalamin D Deficiency Identified Through Newborn Screening. JIMD Rep. 2019; 44:73-77. Abu-El-Haija A, Mendelsohn BA, Duncan JL, Moore AT, Glenn OA, Weisiger K, Gallagher RC. PMID: 30097992.
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    16. Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018 07; 20(7):683-691. Gallagher RC, Pollard L, Scott AI, Huguenin S, Goodman S, Sun Q, ACMG Biochemical Genetics Subcommittee of the Laboratory Quality Assurance Committee . PMID: 29543224.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansPHPublic Health
    17. 22 Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism. . 2018 Jan 1; (Orphanet J Rare Dis 9 2014):230-252.e4. J. Lawrence Merritt, Renata C. Gallagher. .
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    18. Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy. JIMD Rep. 2017; 37:55-61. Stabler SP, Freehauf C, Allen RH, Thomas J, Gallagher R. PMID: 28275971.
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    19. 37 Aminoacidemias and Organic Acidemias. Swaiman\u0027s Pediatric Neurology. 2017 Jan 1; 286-297. Renata C. Gallagher, Gregory M. Enns, Tina M. Cowan, Bryce Mendelsohn, Seymour Packman. .
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    20. The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors. Mol Genet Metab. 2016 09; 119(1-2):50-6. Schillaci LA, Greene CL, Strovel E, Rispoli-Joines J, Spector E, Woontner M, Scharer G, Enns GM, Gallagher R, Zinn AB, McCandless SE, Hoppel CL, Goodman SI, Bedoyan JK. PMID: 27397597.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansPHPublic Health
    21. Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD). PLoS One. 2016; 11(4):e0153358. Laemmle A, Gallagher RC, Keogh A, Stricker T, Gautschi M, Nuoffer JM, Baumgartner MR, Häberle J. PMID: 27070778.
      View in: PubMed   Mentions: 12     Fields:    Translation:Humans
    22. Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum. Pediatr Neurol. 2016 06; 59:6-12. van Karnebeek CD, Tiebout SA, Niermeijer J, Poll-The BT, Ghani A, Coughlin CR, Van Hove JL, Richter JW, Christen HJ, Gallagher R, Hartmann H, Stockler-Ipsiroglu S. PMID: 26995068.
      View in: PubMed   Mentions: 27     Fields:    Translation:Humans
    23. Cyclic vomiting syndrome versus inborn errors of metabolism: A review with clinical recommendations. Headache. 2016 Jan; 56(1):215-21. Gelfand AA, Gallagher RC. PMID: 26678622.
      View in: PubMed   Mentions: 5     Fields:    Translation:Humans
    24. Glutamine and hyperammonemic crises in patients with urea cycle disorders. Mol Genet Metab. 2016 Jan; 117(1):27-32. Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley J, Longo N, Nagamani SC, Berquist W, Gallagher RC, Harding CO, McCandless SE, Smith W, Schulze A, Marino M, Rowell R, Coakley DF, Mokhtarani M, Scharschmidt BF. PMID: 26586473.
      View in: PubMed   Mentions: 3     Fields:    Translation:HumansCTClinical Trials
    25. Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials. Mol Genet Metab. 2015 Sep-Oct; 116(1-2):29-34. Nagamani SC, Diaz GA, Rhead W, Berry SA, Le Mons C, Lichter-Konecki U, Bartley J, Feigenbaum A, Schulze A, Longo N, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Vockley J, Kronn D, Zori R, Cederbaum S, Merritt JL, Wong D, Coakley DF, Scharschmidt BF, Dickinson K, Marino M, Lee BH, Mokhtarani M. PMID: 26296711.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCTClinical Trials
    26. Clinical and biochemical characterization of four patients with mutations in ECHS1. Orphanet J Rare Dis. 2015 Jun 18; 10:79. Ferdinandusse S, Friederich MW, Burlina A, Ruiter JP, Coughlin CR, Dishop MK, Gallagher RC, Bedoyan JK, Vaz FM, Waterham HR, Gowan K, Chatfield K, Bloom K, Bennett MJ, Elpeleg O, Van Hove JL, Wanders RJ. PMID: 26081110.
      View in: PubMed   Mentions: 27     Fields:    Translation:Humans
    27. 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. Coughlin CR, van Karnebeek CD, Al-Hertani W, Shuen AY, Jaggumantri S, Jack RM, Gaughan S, Burns C, Mirsky DM, Gallagher RC, Van Hove JL. PMID: 26026794.
      View in: PubMed   Mentions: 21     Fields:    Translation:Humans
    28. Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing. Mitochondrion. 2015 Mar; 21:1-10. Chatfield KC, Coughlin CR, Friederich MW, Gallagher RC, Hesselberth JR, Lovell MA, Ofman R, Swanson MA, Thomas JA, Wanders RJ, Wartchow EP, Van Hove JL. PMID: 25575635.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansCells
    29. Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. Genet Med. 2015 Jul; 17(7):561-8. Lee B, Diaz GA, Rhead W, Lichter-Konecki U, Feigenbaum A, Berry SA, Le Mons C, Bartley JA, Longo N, Nagamani SC, Berquist W, Gallagher R, Bartholomew D, Harding CO, Korson MS, McCandless SE, Smith W, Cederbaum S, Wong D, Merritt JL, Schulze A, Vockley J, Vockley G, Kronn D, Zori R, Summar M, Milikien DA, Marino M, Coakley DF, Mokhtarani M, UCD Consortium , Scharschmidt BF. PMID: 25503497.
      View in: PubMed   Mentions: 6     Fields:    Translation:Humans
    30. Treatment-related signs and symptoms among patients with urea cycle disorders (UCDs) during treatment with sodium phenylbutyrate and glycerol phenylbutyrate. Clinical Biochemistry. 2014 Oct 1; 47(15):153. Sandesh C. Nagamani, George A. Diaz, William J. Rhead, Sue A. Berry, Cindy Le Mons, Uta Lichter-Konecki, James A. Bartley, Annette Feigenbaum, Andreas Schulze, Nicola Longo, William E. Berquist, Renata Gallagher, Dennis W. Bartholomew, Cary O. Harding, Mark S. Korson, Shawn E. McCandless, Wendy E. Smith, Gerard Vockley, David Kronn, Robert Zori, Dion F. Coakley, Bruce F. Scharschmidt, Masoud Mokhtarani, Brendan H. Lee. .
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    31. Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations. JIMD Rep. 2014; 15:1-11. 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 RC, Van Hove JK, Hartmann H. PMID: 24748525.
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    32. Significant hepatic involvement in patients with ornithine transcarbamylase deficiency. J Pediatr. 2014 Apr; 164(4):720-725.e6. Gallagher RC, Lam C, Wong D, Cederbaum S, Sokol RJ. PMID: 24485820.
      View in: PubMed   Mentions: 20     Fields:    Translation:Humans
    33. Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatology. 2013 Jun; 57(6):2171-9. Diaz GA, Krivitzky LS, Mokhtarani M, Rhead W, Bartley J, Feigenbaum A, Longo N, Berquist W, Berry SA, Gallagher R, Lichter-Konecki U, Bartholomew D, Harding CO, Cederbaum S, McCandless SE, Smith W, Vockley G, Bart SA, Korson MS, Kronn D, Zori R, Merritt JL, C S Nagamani S, Mauney J, Lemons C, Dickinson K, Moors TL, Coakley DF, Scharschmidt BF, Lee B. PMID: 22961727.
      View in: PubMed   Mentions: 25     Fields:    Translation:HumansCTClinical Trials
    34. Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency. Mol Genet Metab. 2012 Feb; 105(2):263-5. Wilson JM, Shchelochkov OA, Gallagher RC, Batshaw ML. PMID: 22129577.
      View in: PubMed   Mentions: 15     Fields:    Translation:HumansCells
    35. Urea cycle disorders: brain MRI and neurological outcome. Pediatr Radiol. 2012 Apr; 42(4):455-62. Bireley WR, Van Hove JL, Gallagher RC, Fenton LZ. PMID: 21989980.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    36. Inborn errors of metabolism in the acutely ill child. Berman\u0027s Pediatric Decision Making. 2011 Jan 1; (J Pediatr1231993):688-692. Renata C. Gallagher, Carol L. Greene. .
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    37. Inborn errors of metabolism in the neonate. Berman\u0027s Pediatric Decision Making. 2011 Jan 1; (Pediatrics791987):684-687. Renata C. Gallagher, Carol L. Greene. .
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    38. The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1. J Inherit Metab Dis. 2010 Oct; 33(5):571-81. Scharer G, Brocker C, Vasiliou V, Creadon-Swindell G, Gallagher RC, Spector E, Van Hove JL. PMID: 20814824.
      View in: PubMed   Mentions: 22     Fields:    Translation:HumansCells
    39. Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy. Pediatr Res. 2010 Aug; 68(2):159-64. Van Hove JL, Saenz MS, Thomas JA, Gallagher RC, Lovell MA, Fenton LZ, Shanske S, Myers SM, Wanders RJ, Ruiter J, Turkenburg M, Waterham HR. PMID: 20453710.
      View in: PubMed   Mentions: 21     Fields:    Translation:HumansCells
    40. 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. Quadros EV, Lai SC, Nakayama Y, Sequeira JM, Hannibal L, Wang S, Jacobsen DW, Fedosov S, Wright E, Gallagher RC, Anastasio N, Watkins D, Rosenblatt DS. PMID: 20524213.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCellsPHPublic Health
    41. Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy. Pediatric Research. 2010 Aug 1; 68(2):159-164. Johan L K Van Hove, Margarita S Saenz, Janet A Thomas, Renata C Gallagher, Mark A Lovell, Laura Z Fenton, Sarah Shanske, Sommer M Myers, Ronald J A Wanders, Jos Ruiter, Marjolein Turkenburg, Hans R Waterham. .
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    42. Fetal Anticonvulsant Syndrome. Management of Genetic Syndromes. 2010 Mar 17; 381-395. H. Eugene Hoyme, Renata C. Gallagher, Kerry Kingham. .
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    43. Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. Mol Genet Metab. 2010; 100 Suppl 1:S97-105. Seminara J, Tuchman M, Krivitzky L, Krischer J, Lee HS, Lemons C, Baumgartner M, Cederbaum S, Diaz GA, Feigenbaum A, Gallagher RC, 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. PMID: 20188616.
      View in: PubMed   Mentions: 38     Fields:    Translation:Humans
    44. 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. Rosenberg EH, Struys EA, Hyland K, Plecko B, Waters PJ, Mercimek-Mahmutoglu S, Stockler-Ipsiroglu S, Gallagher RC, Scharer G, Van Hove JL, Jakobs C, Salomons GS. PMID: 19501531.
      View in: PubMed   Mentions:    Fields:    Translation:HumansCells
    45. Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Ann Neurol. 2009 May; 65(5):550-6. Gallagher RC, 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. PMID: 19142996.
      View in: PubMed   Mentions: 31     Fields:    Translation:Humans
    46. 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. Shchelochkov OA, Li FY, Geraghty MT, Gallagher RC, Van Hove JL, Lichter-Konecki U, Fernhoff PM, Copeland S, Reimschisel T, Cederbaum S, Lee B, Chinault AC, Wong LJ. PMID: 19138872.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansCells
    47. Progressive cerebral vascular degeneration with mitochondrial encephalopathy. . 2008 Feb 01; 146A(3):361-7. Longo N, Schrijver I, Vogel H, Pique LM, Cowan TM, Pasquali M, Steinberg GK, Hedlund GL, Ernst SL, Gallagher RC, Enns GM. PMID: 18203188.
      View in: PubMed   Mentions:
    48. Clinical features and management issues in Mowat-Wilson syndrome. . 2006 Dec 15; 140(24):2730-41. Adam MP, Schelley S, Gallagher R, Brady AN, Barr K, Blumberg B, Shieh JT, Graham J, Slavotinek A, Martin M, Keppler-Noreuil K, Storm AL, Hudgins L. PMID: 17103451.
      View in: PubMed   Mentions:
    49. Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5). Mol Pharmacol. 2006 Nov; 70(5):1602-11. Urban TJ, Gallagher RC, Brown C, Castro RA, Lagpacan LL, Brett CM, Taylor TR, Carlson EJ, Ferrin TE, Burchard EG, Packman S, Giacomini KM. PMID: 16931768.
      View in: PubMed   Mentions: 19     Fields:    Translation:HumansCells
    50. 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. Gallagher RC, Cowan TM, Goodman SI, Enns GM. PMID: 16183314.
      View in: PubMed   Mentions: 16     Fields:    Translation:HumansCellsPHPublic Health
    51. Clinical and mutational spectrum of Mowat-Wilson syndrome. Eur J Med Genet. 2005 Apr-Jun; 48(2):97-111. 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 RC, 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. PMID: 16053902.
      View in: PubMed   Mentions: 34     Fields:    Translation:HumansCells
    52. Fetal Anticonvulsant Syndrome. Management of Genetic Syndromes. 2005 Jan 14. Renata C. Gallagher, Kerry Kingham, H. Eugene Hoyme. .
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    53. 123 ASSOCIATION OF COBALAMIN METABOLISM DEFECT AND 22Q11.2 DELETION SYNDROME. Journal of Investigative Medicine. 2005 Jan 1; 53(1):s99. E. J. Prijoles, R. C. Gallagher, T. Cowan, S. Huguenin, G. Enns, M. A. Manning. .
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    54. ISOLATED SULFITE OXIDASE DEFICIENCY PRESENTING AS NEONATAL SEIZURES REFRACTORY TO TREATMENT.: 363. Journal of Investigative Medicine. 2004 Jan 1; 52:s142. R. C. Gallagher, H. E. Hoyme, T. M. Cowan, I. Schrijver, G. M. Enns. .
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    55. 363 ISOLATED SULFITE OXIDASE DEFICIENCY PRESENTING AS NEONATAL SEIZURES REFRACTORY TO TREATMENT. Journal of Investigative Medicine. 2004 Jan 1; 52(Suppl 1):s142. R. C. Gallagher, H. E. Hoyme, T. M. Cowan, I. Schrijver, G. M. Enns. .
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