Renata Gallagher, MD, PhD

  1. 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, Yarramaneni A, Armstrong NM, Kim Y, Kumar M. 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. PMID: 38042851


  2. 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, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME. Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population. NPJ genomic medicine 2023. PMID: 37872195


  3. 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, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME. Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population. NPJ genomic medicine 2023. PMID: 37236975


  4. 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 Shaughnessy, Patricia Sondergaard, Olga Uspenskaya, Jeffrey Sevigny. Phase 1/2 study update of an AAV9-based gene therapy for Gaucher disease type 2 (PROVIDE trial). Molecular genetics and metabolism 2023. PMID:


  5. 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. 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. PMID: 36343260


  6. 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. Tchan, B. L. Thurberg, A. Yarramaneni, A. M. Rawlings, Y. Kim, M. Kumar. 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. PMID:


  7. 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, Thurberg BL, Zaher A, Kumar M. A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results. 2022. PMID: 35471153


  8. 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. COBALAMIN TREATMENT STRATEGIES IN VITAMIN B12-RESPONSIVE COBALAMIN A-TYPE METHYLMALONIC ACIDEMIA. Molecular genetics and metabolism 2022. PMID:


  9. Lauren A. Pronman, Kaylee Dollerschell, Shawn E. McCandless, Sharon Graw, Liming Bao, Deborrah Hennerich, Renata Gallagher, Peter R. Baker. DELETION OF UPSTREAM OTC REGULATORY ELEMENT IN PATIENTS WITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY. Molecular genetics and metabolism 2022. PMID:


  10. Melissa Wasserstein, Antonio Barbato, Renata Gallagher, Roberto Giugliani, Norberto Guelbert, Julia Hennermann, Carla Hollak, Takayuki Ikezoe, Robin Lachmann, Olivier Lidove, Paulina Mabe, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Jesus Villarrubia, Beth Thurberg, Abhimanyu Yarramaneni, Andreea Rawlings, Yong Kim, Monica Kumar. 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. PMID:


  11. 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, Eugen Mengel, Maurizio Scarpa, Ebubekir Senates, Michel Tchan, Jesus Villarrubia, Beth L. Thurberg, Abhimanyu Yarramaneni, Andreea M. Rawlings, Yong Kim, Monica Kumar. 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. PMID:


  12. Schwab ME, Brown JEH, Lianoglou B, Jin C, Conroy PC, Gallagher RC, Harmatz P, MacKenzie TC. Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients. 2022. PMID: 35093147


  13. M. Kan, G. Bidla, D. Watkins, B. Gilfix, D. Rosenblatt, C. Dvorak, R. Gallagher, J. Puck. M202 PERSISTENT MTHFD1-DEFICIENT SEVERE COMBINED IMMUNODEFICIENCY DESPITE FOLINIC ACID SUPPLEMENTATION; HEMATOPOIETIC ALLOGENEIC TRANSPLANTATION REQUIRED. 2021. PMID:


  14. 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, Kwok PY, Boffelli D. Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders. NPJ genomic medicine 2021. PMID: 34642307


  15. 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, Kwok PY, Boffelli D. Application of full-genome analysis to diagnose rare monogenic disorders. NPJ genomic medicine 2021. PMID: 34556655


  16. Woerner AC, Gallagher RC, Vockley J, Adhikari AN. The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health. Frontiers in pediatrics 2021. PMID: 34350142


  17. Holmes BB, Russ JB, Wu YW, Gallagher RC, Gano D. Clinical Reasoning: A 2-Day-Old Boy With Sudden Cardiac Arrest and Encephalopathy. Neurology 2021. PMID: 34158382


  18. 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. 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. PMID:


  19. 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. Opportunities and challenges for the computational interpretation of rare variation in clinically important genes. American journal of human genetics 2021. PMID: 33798442


  20. 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. eP025 The natural history of vitamin B12-responsive cobalamin A-type methylmalonic acidemia. Molecular genetics and metabolism 2021. PMID:


  21. 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. 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. PMID:


  22. 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. In utero enzyme replacement therapy in fetuses with lysosomal diseases: A phase I clinical trial. Molecular genetics and metabolism 2021. PMID:


  23. 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. The role of exome sequencing in newborn screening for inborn errors of metabolism. Nature medicine 2020. PMID: 32778825


  24. 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. 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. PMID: 32693025


  25. Adhikari AN, Currier RJ, Tang H, Turgeon CT, Nussbaum RL, Srinivasan R, Sunderam U, Kwok PY, Brenner SE, Gavrilov D, Puck JM, Gallagher R. 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. PMID: 32802992


  26. Marisa Eve Pulcrano, Billie Lianoglou, Juan Gonzalez-Velez, Renata C. Gallagher, Mary E. Norton, Tippi MacKenzie. 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. PMID:


  27. 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. 83: HyDROPS study: Exome sequencing identifies genetic disorders causing non-immune hydrops fetalis. American journal of obstetrics and gynecology 2020. PMID:


  28. 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. Long-term safety and efficacy of glycerol phenylbutyrate for the management of urea cycle disorder patients. Molecular genetics and metabolism 2019. PMID: 31326288


  29. 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. 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. PMID: 30613471


  30. 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. Pathogenic variants in glutamyl-tRNAGln amidotransferase subunits cause a lethal mitochondrial cardiomyopathy disorder. Nature communications 2018. PMID: 30283131


  31. Abu-El-Haija A, Mendelsohn BA, Duncan JL, Moore AT, Glenn OA, Weisiger K, Gallagher RC. Cobalamin D Deficiency Identified Through Newborn Screening. JIMD reports 2018. PMID: 30097992


  32. Gallagher RC, Pollard L, Scott AI, Huguenin S, Goodman S, Sun Q, ACMG Biochemical Genetics Subcommittee of the Laboratory Quality Assurance Committee. 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. PMID: 29543224


  33. J. Lawrence Merritt, Renata C. Gallagher. 22 Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism. 2018. PMID:


  34. Stabler SP, Freehauf C, Allen RH, Thomas J, Gallagher R. Potential Misdiagnosis of Hyperhomocysteinemia due to Cystathionine Beta-Synthase Deficiency During Pregnancy. 2017. PMID: 28275971


  35. Renata C. Gallagher, Gregory M. Enns, Tina M. Cowan, Bryce Mendelsohn, Seymour Packman. 37 Aminoacidemias and Organic Acidemias. 2017. PMID:


  36. 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. The M405V allele of the glutaryl-CoA dehydrogenase gene is an important marker for glutaric aciduria type I (GA-I) low excretors. 2016. PMID: 27397597


  37. Laemmle A, Gallagher RC, Keogh A, Stricker T, Gautschi M, Nuoffer JM, Baumgartner MR, Häberle J. Frequency and Pathophysiology of Acute Liver Failure in Ornithine Transcarbamylase Deficiency (OTCD). 2016. PMID: 27070778


  38. 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. Pyridoxine-Dependent Epilepsy: An Expanding Clinical Spectrum. 2016. PMID: 26995068


  39. Gelfand AA, Gallagher RC. Cyclic vomiting syndrome versus inborn errors of metabolism: A review with clinical recommendations. Headache 2015. PMID: 26678622


  40. 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. Glutamine and hyperammonemic crises in patients with urea cycle disorders. 2015. PMID: 26586473


  41. 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. Self-reported treatment-associated symptoms among patients with urea cycle disorders participating in glycerol phenylbutyrate clinical trials. 2015. PMID: 26296711


  42. 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. Clinical and biochemical characterization of four patients with mutations in ECHS1. 2015. PMID: 26081110


  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. Triple therapy with pyridoxine, arginine supplementation and dietary lysine restriction in pyridoxine-dependent epilepsy: Neurodevelopmental outcome. 2015. PMID: 26026794


  44. 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. Mitochondrial energy failure in HSD10 disease is due to defective mtDNA transcript processing. 2015. PMID: 25575635


  45. 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. Blood ammonia and glutamine as predictors of hyperammonemic crises in patients with urea cycle disorder. 2014. PMID: 25503497


  46. 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. Treatment-related signs and symptoms among patients with urea cycle disorders (UCDs) during treatment with sodium phenylbutyrate and glycerol phenylbutyrate. 2014. PMID:


  47. 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. Lysine-Restricted Diet as Adjunct Therapy for Pyridoxine-Dependent Epilepsy: The PDE Consortium Consensus Recommendations. 2014. PMID: 24748525


  48. Gallagher RC, Lam C, Wong D, Cederbaum S, Sokol RJ. Significant hepatic involvement in patients with ornithine transcarbamylase deficiency. 2014. PMID: 24485820


  49. 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. Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. 2013. PMID: 22961727


  50. Wilson JM, Shchelochkov OA, Gallagher RC, Batshaw ML. Hepatocellular carcinoma in a research subject with ornithine transcarbamylase deficiency. 2011. PMID: 22129577


  51. Bireley WR, Van Hove JL, Gallagher RC, Fenton LZ. Urea cycle disorders: brain MRI and neurological outcome. 2011. PMID: 21989980


  52. Renata C. Gallagher, Carol L. Greene. Inborn errors of metabolism in the acutely ill child. 2011. PMID:


  53. Renata C. Gallagher, Carol L. Greene. Inborn errors of metabolism in the neonate. 2011. PMID:


  54. Scharer G, Brocker C, Vasiliou V, Creadon-Swindell G, Gallagher RC, Spector E, Van Hove JL. The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations in ALDH7A1. 2010. PMID: 20814824


  55. 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. Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12). 2010. PMID: 20524213


  56. 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. Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy. 2010. PMID:


  57. 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. Succinyl-CoA ligase deficiency: a mitochondrial hepatoencephalomyopathy. 2010. PMID: 20453710


  58. H. Eugene Hoyme, Renata C. Gallagher, Kerry Kingham. Fetal Anticonvulsant Syndrome. 2010. PMID:


  59. 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. Establishing a consortium for the study of rare diseases: The Urea Cycle Disorders Consortium. 2010. PMID: 20188616


  60. 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. Mutation detection in DNA isolated from cerebrospinal fluid and urine: Clinical utility and pitfalls of multiple displacement amplification. 2009. PMID: 19501531


  61. 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. Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. 2009. PMID: 19142996


  62. 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. High-frequency detection of deletions and variable rearrangements at the ornithine transcarbamylase (OTC) locus by oligonucleotide array CGH. 2009. PMID: 19138872


  63. Longo N, Schrijver I, Vogel H, Pique LM, Cowan TM, Pasquali M, Steinberg GK, Hedlund GL, Ernst SL, Gallagher RC, Enns GM. Progressive cerebral vascular degeneration with mitochondrial encephalopathy. 2008. PMID: 18203188


  64. 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. Clinical features and management issues in Mowat-Wilson syndrome. American journal of medical genetics. Part A 2006. PMID: 17103451


  65. Urban TJ, Gallagher RC, 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). Molecular pharmacology 2006. PMID: 16931768


  66. Gallagher RC, 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. 2005. PMID: 16183314


  67. 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. Clinical and mutational spectrum of Mowat-Wilson syndrome. 2005. PMID: 16053902


  68. Renata C. Gallagher, Kerry Kingham, H. Eugene Hoyme. Fetal Anticonvulsant Syndrome. 2005. PMID:


  69. E. J. Prijoles, R. C. Gallagher, T. Cowan, S. Huguenin, G. Enns, M. A. Manning. 123 ASSOCIATION OF COBALAMIN METABOLISM DEFECT AND 22Q11.2 DELETION SYNDROME. 2005. PMID:


  70. R. C. Gallagher, H. E. Hoyme, T. M. Cowan, I. Schrijver, G. M. Enns. 363 ISOLATED SULFITE OXIDASE DEFICIENCY PRESENTING AS NEONATAL SEIZURES REFRACTORY TO TREATMENT. 2004. PMID:


  71. 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. 2004. PMID:


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