Renata Gallagher, MD, PhD
Professor Emeritus
Pediatrics
School of Medicine

Grants and Projects

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• Toward DNA Sequencing as a Primary Newborn Screen for Treatable Disorders not Amenable to Current Screening, NIH, 2021-2023

Publications (79)

Top publication keywords:
Metabolism, Inborn ErrorsVitamin B ComplexGlutaryl-CoA DehydrogenaseNiemann-Pick Disease, Type AGlycerolUrinalysisOrnithine Carbamoyltransferase Deficiency DiseaseMitochondrial DiseasesNeonatal ScreeningVomitingClinical Laboratory TechniquesPyridoxineLipid Metabolism, Inborn ErrorsUrea Cycle Disorders, InbornPhenylbutyrates

• A phase 1/2 study of LY3884961 (PR001) an AAV9-based gene therapy for Gaucher disease type 2 – A clinical update from the PROVIDE trial.
  Molecular Genetics and Metabolism 2025 Sarah Neuhaus, Paul Tamburri, Chester B. Whitley, Simon A. Jones, Aimee Donald, Paul Harmatz, David R. Blair, Irene Chang, Renata C. Gallagher, Deepa S. Rajan, Ozlem Goker-Alpan, Yael Beckerman, …
• Final results of the ASCEND trial: Continued or sustained improvements in hepatosplenomegaly, respiratory outcomes, and lipid profile after 4?years of olipudase alfa enzyme replacement therapy in adults with acid sphingomyelinase deficiency.
  Molecular Genetics and Metabolism 2025 Melissa Wasserstein, Renata C. Gallagher, Antonio Barbato, Roberto Guigliani, Norberto Guelbert, Julia B. Hennermann, Takayuki Ikezoe, Robin Lachmann, Olivier Lidove, Paulina Mabe, Eugen Mengel, …
• Characterization of Factors Associated With Death in Deceased Patients With Mitochondrial Disorders: A Multicenter Cross-Sectional Survey.
  Neurology 2025 Ivaniuk A, Anselm IA, Bowen A, Cohen BH, Eminoglu FT, Estrella J, Gallagher RC, Ganetzky RD, Gannon J, Gorman GS, Greene C, Gropman AL, Haas RH, Hirano M, Kapoor S, Karaa A, Koenig MK, Kornblum C, …
• Continued improvement in disease manifestations of acid sphingomyelinase deficiency for adults with up to 2 years of olipudase alfa treatment: open-label extension of the ASCEND trial.
  Orphanet journal of rare diseases 2023 Wasserstein MP, Lachmann R, Hollak C, Barbato A, Gallagher RC, Giugliani R, Guelbert NB, Hennermann JB, Ikezoe T, Lidove O, Mabe P, Mengel E, Scarpa M, Senates E, Tchan M, Villarrubia J, Thurberg BL, …
• Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
  NPJ genomic medicine 2023 Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E…

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• Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
  NPJ genomic medicine 2023 Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E…
• Phase 1/2 study update of an AAV9-based gene therapy for Gaucher disease type 2 (PROVIDE trial).
  Molecular Genetics and Metabolism 2023 Sarah Neuhaus, Travis B. Lewis, Paul A. Tamburri, Chester B. Whitley, Deepa Rajan, Renata C. Gallagher, Simon Jones, Aimee Donald, Maria L. Escolar, Yael Beckerman, Erin Mahoney, Daniel A. Hatch, Lee …
• Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency.
  Proceedings of the National Academy of Sciences of the United States of America 2022 Koleske ML, McInnes G, Brown JEH, Thomas N, Hutchinson K, Chin MY, Koehl A, Arkin MR, Schlessinger A, Gallagher RC, Song YS, Altman RB, Giacomini KM
• PB2314: OLIPUDASE ALFA FOR ADULTS WITH ACID SPHINGOMYELINASE DEFICIENCY: IMPROVEMENTS IN CROSSOVER PLACEBO PATIENTS AND FURTHER IMPROVEMENTS IN ORIGINAL OLIPUDASE ALFA PATIENTS AFTER 2 YEARS IN ASCEND TRIAL.
  HemaSphere 2022 J. Villarrubia, M. Wasserstein, A. Barbato, R. C. Gallagher, R. Giugliani, N. B. Guelbert, J. B. Hennermann, C. Hollak, T. Ikezoe, R. Lachmann, O. Lidove, P. Mabe, E. Mengel, M. Scarpa, E. Senates, M.…
• A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results.
  Genetics in medicine : official journal of the American College of Medical Genetics 2022 Wasserstein M, Lachmann R, Hollak C, Arash-Kaps L, Barbato A, Gallagher RC, Giugliani R, Guelbert NB, Ikezoe T, Lidove O, Mabe P, Mengel E, Scarpa M, Senates E, Tchan M, Villarrubia J, Chen Y, Furey S…
• COBALAMIN TREATMENT STRATEGIES IN VITAMIN B12-RESPONSIVE COBALAMIN A-TYPE METHYLMALONIC ACIDEMIA.
  Molecular Genetics and Metabolism 2022 Ryan Peretz, Samantha McCoy, Jennifer Sloan, Oleg Shchelochkov, Susan Ferry, Carol Van Ryzin, Jennifer Myles, Audrey Thurm, Joseph Snow, Renata Gallagher, Diana Bianchi, Irini Manoli, Charles Venditti
• DELETION OF UPSTREAM OTC REGULATORY ELEMENT IN PATIENTS WITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY.
  Molecular Genetics and Metabolism 2022 Lauren A. Pronman, Kaylee Dollerschell, Shawn E. McCandless, Sharon Graw, Liming Bao, Deborrah Hennerich, Renata Gallagher, Peter R. Baker
• eP280: Continued improvement in adults with acid sphingomyelinase deficiency after 2 years of olipudase alfa in the ASCEND placebo-controlled trial.
  Genetics in Medicine 2022 Melissa Wasserstein, Antonio Barbato, Renata Gallagher, Roberto Giugliani, Norberto Guelbert, Julia Hennermann, Carla Hollak, Takayuki Ikezoe, Robin Lachmann, Olivier Lidove, Paulina Mabe, Eugen …
• Two-year results of the ASCEND trial of olipudase alfa adults with chronic acid sphingomyelinase deficiency show parallel improvements in former placebo patients and further improvement in continuing olipudase alfa patients.
  Molecular Genetics and Metabolism 2022 Melissa P. Wasserstein, Antonio Barbato, Renata C. Gallagher, Roberto Giugliani, Norberto B. Guelbert, Julia B. Hennermann, Carla Hollak, Takayuki Ikezoe, Robin Lachmann, Olivier Lidove, Paulina Mabe,…
• Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients.
  Orphanet journal of rare diseases 2022 Schwab ME, Brown JEH, Lianoglou B, Jin C, Conroy PC, Gallagher RC, Harmatz P, MacKenzie TC
• M202 PERSISTENT MTHFD1-DEFICIENT SEVERE COMBINED IMMUNODEFICIENCY DESPITE FOLINIC ACID SUPPLEMENTATION; HEMATOPOIETIC ALLOGENEIC TRANSPLANTATION REQUIRED.
  Annals of Allergy Asthma & Immunology 2021 M. Kan, G. Bidla, D. Watkins, B. Gilfix, D. Rosenblatt, C. Dvorak, R. Gallagher, J. Puck
• Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders.
  NPJ genomic medicine 2021 Shieh JT, Penon-Portmann M, Wong KHY, Levy-Sakin M, Verghese M, Slavotinek A, Gallagher RC, Mendelsohn BA, Tenney J, Beleford D, Perry H, Chow SK, Sharo AG, Brenner SE, Qi Z, Yu J, Klein OD, Martin D,…
• Application of full-genome analysis to diagnose rare monogenic disorders.
  NPJ genomic medicine 2021 Shieh JT, Penon-Portmann M, Wong KHY, Levy-Sakin M, Verghese M, Slavotinek A, Gallagher RC, Mendelsohn BA, Tenney J, Beleford D, Perry H, Chow SK, Sharo AG, Brenner SE, Qi Z, Yu J, Klein OD, Martin D,…
• The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health.
  Frontiers in pediatrics 2021 Woerner AC, Gallagher RC, Vockley J, Adhikari AN
• Clinical Reasoning: A 2-Day-Old Boy With Sudden Cardiac Arrest and Encephalopathy.
  Neurology 2021 Holmes BB, Russ JB, Wu YW, Gallagher RC, Gano D
• 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 Melissa Wasserstein, Laila Arash-Kaps, Antonio Barbato, Renata Gallagher, Roberto Giugliani, Norberto Guelbert, Carla Hollak, Takayuki Ikezoe, Robin Lachmann, Olivier Lidove, Paulina Mabe, Eugen …
• Opportunities and challenges for the computational interpretation of rare variation in clinically important genes.
  American journal of human genetics 2021 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
• eP025 The natural history of vitamin B12-responsive cobalamin A-type methylmalonic acidemia.
  Molecular Genetics and Metabolism 2021 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 …
• 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 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 …
• In utero enzyme replacement therapy in fetuses with lysosomal diseases: A phase I clinical trial.
  Molecular Genetics and Metabolism 2021 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, …
• The role of exome sequencing in newborn screening for inborn errors of metabolism.
  Nature medicine 2020 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 …
• De Novo Variants in the ATPase Module of MORC2 Cause a Neurodevelopmental Disorder with Growth Retardation and Variable Craniofacial Dysmorphism.
  American journal of human genetics 2020 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,…
• 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.
  International journal of neonatal screening 2020 Adhikari AN, Currier RJ, Tang H, Turgeon CT, Nussbaum RL, Srinivasan R, Sunderam U, Kwok PY, Brenner SE, Gavrilov D, Puck JM, Gallagher R
• 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 Marisa Eve Pulcrano, Billie Lianoglou, Juan Gonzalez-Velez, Renata C. Gallagher, Mary E. Norton, Tippi MacKenzie
• 83: HyDROPS study: Exome sequencing identifies genetic disorders causing non-immune hydrops fetalis.
  American Journal of Obstetrics and Gynecology 2020 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…
• Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients.
  Molecular genetics and metabolism 2019 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, …
• Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium.
  Translational science of rare diseases 2018 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,…
• Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder.
  Nature communications 2018 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, …
• Cobalamin D Deficiency Identified Through Newborn Screening.
  JIMD reports 2018 Abu-El-Haija A, Mendelsohn BA, Duncan JL, Moore AT, Glenn OA, Weisiger K, Gallagher RC
• Laboratory analysis of organic acids, 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG).
  Genetics in medicine : official journal of the American College of Medical Genetics 2018 Gallagher RC, Pollard L, Scott AI, Huguenin S, Goodman S, Sun Q, ACMG Biochemical Genetics Subcommittee of the Laboratory Quality Assurance Committee
• 22 Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism.
  2018 J. Lawrence Merritt, Renata C. Gallagher
• Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy.
  JIMD reports 2017 Stabler SP, Freehauf C, Allen RH, Thomas J, Gallagher R
• 37 Aminoacidemias and Organic Acidemias.
  Swaiman\u0027s Pediatric Neurology 2017 Renata C. Gallagher, Gregory M. Enns, Tina M. Cowan, Bryce Mendelsohn, Seymour Packman
• The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors.
  Molecular genetics and metabolism 2016 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
• Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD).
  PloS one 2016 Laemmle A, Gallagher RC, Keogh A, Stricker T, Gautschi M, Nuoffer JM, Baumgartner MR, Häberle J
• Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum.
  Pediatric neurology 2016 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
• Cyclic vomiting syndrome versus inborn errors of metabolism: A review with clinical recommendations.
  Headache 2015 Gelfand AA, Gallagher RC
• Glutamine and hyperammonemic crises in patients with urea cycle disorders.
  Molecular genetics and metabolism 2015 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, …
• Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials.
  Molecular genetics and metabolism 2015 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 …
• Clinical and biochemical characterization of four patients with mutations in ECHS1.
  Orphanet journal of rare diseases 2015 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 …
• Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome.
  Molecular genetics and metabolism 2015 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
• Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing.
  Mitochondrion 2015 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
• Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder.
  Genetics in medicine : official journal of the American College of Medical Genetics 2014 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, …
• Treatment-related signs and symptoms among patients with urea cycle disorders (UCDs) during treatment with sodium phenylbutyrate and glycerol phenylbutyrate.
  Clinical Biochemistry 2014 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, …
• Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations.
  JIMD reports 2014 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, …
• Significant hepatic involvement in patients with ornithine transcarbamylase deficiency.
  The Journal of pediatrics 2014 Gallagher RC, Lam C, Wong D, Cederbaum S, Sokol RJ
• Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate.
  Hepatology (Baltimore, Md.) 2013 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, …
• Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency.
  Molecular genetics and metabolism 2011 Wilson JM, Shchelochkov OA, Gallagher RC, Batshaw ML
• Urea cycle disorders: brain MRI and neurological outcome.
  Pediatric radiology 2011 Bireley WR, Van Hove JL, Gallagher RC, Fenton LZ
• Inborn errors of metabolism in the acutely ill child.
  Berman\u0027s Pediatric Decision Making 2011 Renata C. Gallagher, Carol L. Greene
• Inborn errors of metabolism in the neonate.
  Berman\u0027s Pediatric Decision Making 2011 Renata C. Gallagher, Carol L. Greene
• The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1.
  Journal of inherited metabolic disease 2010 Scharer G, Brocker C, Vasiliou V, Creadon-Swindell G, Gallagher RC, Spector E, Van Hove JL
• Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12).
  Human mutation 2010 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
• Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy.
  Pediatric Research 2010 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 …
• Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy.
  Pediatric research 2010 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
• Fetal Anticonvulsant Syndrome.
  Management of Genetic Syndromes 2010 H. Eugene Hoyme, Renata C. Gallagher, Kerry Kingham
• Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium.
  Molecular genetics and metabolism 2010 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 …
• Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification.
  Molecular genetics and metabolism 2009 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
• Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy.
  Annals of neurology 2009 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
• High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH.
  Molecular genetics and metabolism 2009 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
• Progressive cerebral vascular degeneration with mitochondrial encephalopathy.
  American journal of medical genetics. Part A 2008 Longo N, Schrijver I, Vogel H, Pique LM, Cowan TM, Pasquali M, Steinberg GK, Hedlund GL, Ernst SL, Gallagher RC, Enns GM
• Clinical features and management issues in Mowat-Wilson syndrome.
  American journal of medical genetics. Part A 2006 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
• Functional genetic diversity in the high-affinity carnitine transporter OCTN2 (SLC22A5).
  Molecular pharmacology 2006 Urban TJ, Gallagher RC, Brown C, Castro RA, Lagpacan LL, Brett CM, Taylor TR, Carlson EJ, Ferrin TE, Burchard EG, Packman S, Giacomini KM
• Glutaryl-CoA dehydrogenase deficiency and newborn screening: retrospective analysis of a low excretor provides further evidence that some cases may be missed.
  Molecular genetics and metabolism 2005 Gallagher RC, Cowan TM, Goodman SI, Enns GM
• Clinical and mutational spectrum of Mowat-Wilson syndrome.
  European journal of medical genetics 2005 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, …
• Fetal Anticonvulsant Syndrome.
  Management of Genetic Syndromes 2005 Renata C. Gallagher, Kerry Kingham, H. Eugene Hoyme
• 123 ASSOCIATION OF COBALAMIN METABOLISM DEFECT AND 22Q11.2 DELETION SYNDROME.
  Journal of Investigative Medicine 2005 E. J. Prijoles, R. C. Gallagher, T. Cowan, S. Huguenin, G. Enns, M. A. Manning
• 363 ISOLATED SULFITE OXIDASE DEFICIENCY PRESENTING AS NEONATAL SEIZURES REFRACTORY TO TREATMENT.
  Journal of Investigative Medicine 2004 R. C. Gallagher, H. E. Hoyme, T. M. Cowan, I. Schrijver, G. M. Enns
• ISOLATED SULFITE OXIDASE DEFICIENCY PRESENTING AS NEONATAL SEIZURES REFRACTORY TO TREATMENT.: 363.
  Journal of Investigative Medicine 2004 R. C. Gallagher, H. E. Hoyme, T. M. Cowan, I. Schrijver, G. M. Enns
• Toriello-Carey syndrome: delineation and review.
  American journal of medical genetics. Part A 2003 Toriello HV, Carey JC, Addor MC, Allen W, Burke L, Chun N, Dobyns W, Elias E, Gallagher R, Hordijk R, Hoyme G, Irons M, Jewett T, LeMerrer M, Lubinsky M, Martin R, McDonald-McGinn D, Neumann L, Newman…
• Evidence for the role of PWCR1/HBII-85 C/D box small nucleolar RNAs in Prader-Willi syndrome.
  American journal of human genetics 2002 Gallagher RC, Pils B, Albalwi M, Francke U
• A promoter region mutation affecting replication of the Tetrahymena ribosomal DNA minichromosome.
  Molecular and cellular biology 1998 Gallagher RC, Blackburn EH
• Replication of an rRNA gene origin plasmid in the Tetrahymena thermophila macronucleus is prevented by transcription through the origin from an RNA polymerase I promoter.
  Molecular and cellular biology 1995 Pan WJ, Gallagher RC, Blackburn EH
• In vivo and in vitro studies of telomeres and telomerase.
  Cold Spring Harbor symposia on quantitative biology 1993 Lee MS, Gallagher RC, Bradley J, Blackburn EH