Renata Gallagher, MD, PhD

Title(s)Professor Emeritus, Pediatrics
SchoolSchool of Medicine
AddressLocation Required, #001
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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    Altmetrics Details PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
    1. 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 J Rare Dis. 2023 Dec 02; 18(1):378. 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. PMID: 38042851; PMCID: PMC10693698.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    2. Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population. NPJ Genom Med. 2023 Oct 23; 8(1):34. 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. PMID: 37872195; PMCID: PMC10593851.
      View in: PubMed   Mentions:
    3. Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population. NPJ Genom Med. 2023 May 26; 8(1):10. 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. PMID: 37236975; PMCID: PMC10220040.
      View in: PubMed   Mentions: 6  
    4. Phase 1/2 study update of an AAV9-based gene therapy for Gaucher disease type 2 (PROVIDE trial). Molecular Genetics and Metabolism. 2023 Feb 1; 138(2):107238. Neuhaus NS, Lewis LT, Tamburri TP, Whitley WC, Rajan RD, Gallagher GR, Jones JS, Donald DA, Escolar EM, Beckerman BY, Mahoney ME, Hatch HD, Shaughnessy SL, Sondergaard SP, Uspenskaya UO, Sevigny SJ. .
      View in: Publisher Site   Mentions:
    5. Functional genomics of OCTN2 variants informs protein-specific variant effect predictor for Carnitine Transporter Deficiency. Proc Natl Acad Sci U S A. 2022 Nov 16; 119(46):e2210247119. 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. PMID: 36343260; PMCID: PMC9674959.
      View in: PubMed   Mentions: 2     Fields:    Translation:HumansCells
    6. 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 Jun 1; 6(Suppl):2183-2184. Villarrubia VJ, Wasserstein WM, Barbato BA, Gallagher GR, Giugliani GR, Guelbert GN, Hennermann HJ, Hollak HC, Ikezoe IT, Lachmann LR, Lidove LO, Mabe MP, Mengel ME, Scarpa SM, Senates SE, Tchan TM, Thurberg TB, Yarramaneni YA, Rawlings RA, Kim KY, Kumar KM. .
      View in: Publisher Site   Mentions:
    7. A randomized, placebo-controlled clinical trial evaluating olipudase alfa enzyme replacement therapy for chronic acid sphingomyelinase deficiency (ASMD) in adults: One-year results. Genet Med. 2022 07; 24(7):1425-1436. 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. PMID: 35471153.
      View in: PubMed   Mentions: 18     Fields:    Translation:HumansCTClinical Trials
    8. COBALAMIN TREATMENT STRATEGIES IN VITAMIN B12-RESPONSIVE COBALAMIN A-TYPE METHYLMALONIC ACIDEMIA. Molecular Genetics and Metabolism. 2022 Apr 1; 135(4):291. Peretz PR, McCoy MS, Sloan SJ, Shchelochkov SO, Ferry FS, Van Ryzin VC, Myles MJ, Thurm TA, Snow SJ, Gallagher GR, Bianchi BD, Manoli MI, Venditti VC. .
      View in: Publisher Site   Mentions:
    9. DELETION OF UPSTREAM OTC REGULATORY ELEMENT IN PATIENTS WITH ORNITHINE TRANSCARBAMYLASE DEFICIENCY. Molecular Genetics and Metabolism. 2022 Apr 1; 135(4):294. Pronman PL, Dollerschell DK, McCandless MS, Graw GS, Bao BL, Hennerich HD, Gallagher GR, Baker BP. .
      View in: Publisher Site   Mentions:
    10. 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 Mar 1; 24(3):s176-s177. Wasserstein WM, Barbato BA, Gallagher GR, Giugliani GR, Guelbert GN, Hennermann HJ, Hollak HC, Ikezoe IT, Lachmann LR, Lidove LO, Mabe MP, Mengel ME, Scarpa SM, Senates SE, Tchan TM, Villarrubia VJ, Thurberg TB, Yarramaneni YA, Rawlings RA, Kim KY, Kumar KM. .
      View in: Publisher Site   Mentions:
    11. 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 Feb 1; 135(2):s126-s127. Wasserstein WM, Barbato BA, Gallagher GR, Giugliani GR, Guelbert GN, Hennermann HJ, Hollak HC, Ikezoe IT, Lachmann LR, Lidove LO, Mabe MP, Mengel ME, Scarpa SM, Senates SE, Tchan TM, Villarrubia VJ, Thurberg TB, Yarramaneni YA, Rawlings RA, Kim KY, Kumar KM. .
      View in: Publisher Site   Mentions:
    12. Fetal therapies and trials for lysosomal storage diseases: a survey of attitudes of parents and patients. Orphanet J Rare Dis. 2022 01 29; 17(1):25. Schwab ME, Brown JEH, Lianoglou B, Jin C, Conroy PC, Gallagher RC, Harmatz P, MacKenzie TC. PMID: 35093147; PMCID: PMC8800365.
      View in: PubMed   Mentions: 2     Fields:    Translation:Humans
    13. M202 PERSISTENT MTHFD1-DEFICIENT SEVERE COMBINED IMMUNODEFICIENCY DESPITE FOLINIC ACID SUPPLEMENTATION; HEMATOPOIETIC ALLOGENEIC TRANSPLANTATION REQUIRED. Annals of Allergy Asthma & Immunology. 2021 Nov 1; 127(5):s108-s109. Kan KM, Bidla BG, Watkins WD, Gilfix GB, Rosenblatt RD, Dvorak DC, Gallagher GR, Puck PJ. .
      View in: Publisher Site   Mentions:
    14. Publisher Correction: Application of full-genome analysis to diagnose rare monogenic disorders. NPJ Genom Med. 2021 Oct 12; 6(1):88. 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. PMID: 34642307; PMCID: PMC8511154.
      View in: PubMed   Mentions:
    15. Application of full-genome analysis to diagnose rare monogenic disorders. NPJ Genom Med. 2021 Sep 23; 6(1):77. 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. PMID: 34556655; PMCID: PMC8460793.
      View in: PubMed   Mentions: 15  
    16. The Use of Whole Genome and Exome Sequencing for Newborn Screening: Challenges and Opportunities for Population Health. Front Pediatr. 2021; 9:663752. Woerner AC, Gallagher RC, Vockley J, Adhikari AN. PMID: 34350142; PMCID: PMC8326411.
      View in: PubMed   Mentions: 27  
    17. Clinical Reasoning: A 2-Day-Old Boy With Sudden Cardiac Arrest and Encephalopathy. Neurology. 2021 10 26; 97(17):e1743-e1746. Holmes BB, Russ JB, Wu YW, Gallagher RC, Gano D. PMID: 34158382; PMCID: PMC10513875.
      View in: PubMed   Mentions:    Fields:    Translation:Humans
    18. 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; PMCID: PMC8059338.
      View in: PubMed   Mentions: 24     Fields:    Translation:Humans
    19. eP025 The natural history of vitamin B12-responsive cobalamin A-type methylmalonic acidemia. Molecular Genetics and Metabolism. 2021 Apr 1; 132:s18. Peretz PR, McCoy MS, Sloan SJ, Shchelochkov SO, O’Brien OK, Ferry FS, Van Ryzin VC, Myles MJ, Paul PS, Gropman GA, Toro TC, Thurm TA, Snow SJ, Gallagher GR, Bianchi BD, Manoli MI, Venditti VC. .
      View in: Publisher Site   Mentions:
    20. 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. Wasserstein WM, Arash-Kaps AL, Barbato BA, Gallagher GR, Giugliani GR, Guelbert GN, Hollak HC, Ikezoe IT, Lachmann LR, Lidove LO, Mabe MP, Mengel ME, Scarpa SM, Senates SE, Tchan TM, Villarrubia VJ, Chen CY, Awan AM, Thurberg TB, Atef AZ, Kumar KM. .
      View in: Publisher Site   Mentions:
    21. 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. Wasserstein WM, Arash-Kaps AL, Barbato BA, Gallagher GR, Giugliani GR, Guelbert GN, Hollak HC, Ikezoe IT, Lachmann LR, Lidove LO, Mabe MP, Mengel ME, Scarpa SM, Senates SE, Tchan TM, Villarrubia VJ, Chen CY, Fraser FP, Thurberg TB, Zaher ZA, Kumar KM. .
      View in: Publisher Site   Mentions:
    22. 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. Schwab SM, Cohen CJ, Lianoglou LB, Gallagher GR, Gonzalez-Velez GJ, Sparks ST, Norton NM, Gelb GM, Wood WT, Kishnani KP, Harmatz HP, MacKenzie MT. .
      View in: Publisher Site   Mentions:
    23. 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; PMCID: PMC8800147.
      View in: PubMed   Mentions: 65     Fields:    Translation:HumansPHPublic Health
    24. 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; PMCID: PMC7413887.
      View in: PubMed   Mentions: 39     Fields:    Translation:Humans
    25. 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; PMCID: PMC7423011.
      View in: PubMed   Mentions: 7  
    26. 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. Pulcrano PM, Lianoglou LB, Gonzalez-Velez GJ, Gallagher GR, Norton NM, MacKenzie MT. .
      View in: Publisher Site   Mentions:
    27. 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. Sparks ST, Lianoglou LB, Patel PS, Adami AR, Rangwala RN, Pluym PI, Holliman HK, Downum DS, Amezcua AJ, Boe BN, Field FN, Gallagher GR, Laurent LL, MacKenzie MT, Murphy MA, Sanders SS, Slavotinek SA, Norton NM. .
      View in: Publisher Site   Mentions:
    28. 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: 7     Fields:    Translation:Humans
    29. 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; PMCID: PMC6311376.
      View in: PubMed   Mentions: 2  
    30. 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; PMCID: PMC6170436.
      View in: PubMed   Mentions: 26     Fields:    Translation:HumansAnimalsCells
    31. 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; PMCID: PMC6323031.
      View in: PubMed   Mentions: 3  
    32. 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: 8     Fields:    Translation:HumansPHPublic Health
    33. 22 Inborn Errors of Carbohydrate, Ammonia, Amino Acid, and Organic Acid Metabolism. . 2018 Jan 1; (Orphanet J Rare Dis 9 2014):230-252.e4. Merritt MJ, Gallagher GR. .
      View in: Publisher Site   Mentions:
    34. 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; PMCID: PMC5740052.
      View in: PubMed   Mentions:
    35. 37 Aminoacidemias and Organic Acidemias. Swaiman\u0027s Pediatric Neurology. 2017 Jan 1; 286-297. Gallagher GR, Enns EG, Cowan CT, Mendelsohn MB, Packman PS. .
      View in: Publisher Site   Mentions:
    36. 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: 4     Fields:    Translation:HumansPHPublic Health
    37. 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; PMCID: PMC4829252.
      View in: PubMed   Mentions: 19     Fields:    Translation:Humans
    38. 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: 45     Fields:    Translation:Humans
    39. 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; PMCID: PMC4728152.
      View in: PubMed   Mentions: 8     Fields:    Translation:Humans
    40. 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; PMCID: PMC4915945.
      View in: PubMed   Mentions: 7     Fields:    Translation:HumansCTClinical Trials
    41. 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; PMCID: PMC4804346.
      View in: PubMed   Mentions: 4     Fields:    Translation:HumansCTClinical Trials
    42. 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; PMCID: PMC4474341.
      View in: PubMed   Mentions: 39     Fields:    Translation:Humans
    43. 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: 28     Fields:    Translation:Humans
    44. 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; PMCID: PMC4355277.
      View in: PubMed   Mentions: 35     Fields:    Translation:HumansCells
    45. 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; PMCID: PMC4465427.
      View in: PubMed   Mentions: 10     Fields:    Translation:Humans
    46. 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. Nagamani NS, Diaz DG, Rhead RW, Berry BS, Le Mons LC, Lichter-Konecki LU, Bartley BJ, Feigenbaum FA, Schulze SA, Longo LN, Berquist BW, Gallagher GR, Bartholomew BD, Harding HC, Korson KM, McCandless MS, Smith SW, Vockley VG, Kronn KD, Zori ZR, Coakley CD, Scharschmidt SB, Mokhtarani MM, Lee LB. .
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    47. 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; PMCID: PMC4270869.
      View in: PubMed   Mentions: 11  
    48. 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; PMCID: PMC4070427.
      View in: PubMed   Mentions: 26     Fields:    Translation:Humans
    49. 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; PMCID: PMC3557606.
      View in: PubMed   Mentions: 39     Fields:    Translation:HumansCTClinical Trials
    50. 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; PMCID: PMC3273986.
      View in: PubMed   Mentions: 20     Fields:    Translation:HumansCells
    51. 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: 13     Fields:    Translation:Humans
    52. Inborn errors of metabolism in the acutely ill child. Berman\u0027s Pediatric Decision Making. 2011 Jan 1; (J Pediatr1231993):688-692. Gallagher GR, Greene GC. .
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    53. Inborn errors of metabolism in the neonate. Berman\u0027s Pediatric Decision Making. 2011 Jan 1; (Pediatrics791987):684-687. Gallagher GR, Greene GC. .
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    54. 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; PMCID: PMC3112356.
      View in: PubMed   Mentions: 27     Fields:    Translation:HumansCells
    55. 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; PMCID: PMC2928220.
      View in: PubMed   Mentions: 31     Fields:    Translation:HumansCells
    56. 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; PMCID: PMC2909035.
      View in: PubMed   Mentions: 26     Fields:    Translation:HumansCellsPHPublic Health
    57. Succinyl-CoA Ligase Deficiency: A Mitochondrial Hepatoencephalomyopathy. Pediatric Research. 2010 Aug 1; 68(2):159-164. Van Hove VJ, Saenz SM, Thomas TJ, Gallagher GR, Lovell LM, Fenton FL, Shanske SS, Myers MS, Wanders WR, Ruiter RJ, Turkenburg TM, Waterham WH. .
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    58. Fetal Anticonvulsant Syndrome. Management of Genetic Syndromes. 2010 Mar 17; 381-395. Hoyme HH, Gallagher GR, Kingham KK. .
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    59. 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; PMCID: PMC2858794.
      View in: PubMed   Mentions: 50     Fields:    Translation:Humans
    60. 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
    61. 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: 36     Fields:    Translation:Humans
    62. 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: 25     Fields:    Translation:HumansCells
    63. Progressive cerebral vascular degeneration with mitochondrial encephalopathy. Am J Med Genet A. 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: 10     Fields:    Translation:Humans
    64. Clinical features and management issues in Mowat-Wilson syndrome. Am J Med Genet A. 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: 33     Fields:    Translation:Humans
    65. 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: 21     Fields:    Translation:HumansCells
    66. 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: 18     Fields:    Translation:HumansCellsPHPublic Health
    67. 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: 45     Fields:    Translation:HumansCells
    68. Fetal Anticonvulsant Syndrome. Management of Genetic Syndromes. 2005 Jan 14. Gallagher GR, Kingham KK, Hoyme HH. .
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    69. 123 ASSOCIATION OF COBALAMIN METABOLISM DEFECT AND 22Q11.2 DELETION SYNDROME. Journal of Investigative Medicine. 2005 Jan 1; 53(1):s99. Prijoles PE, Gallagher GR, Cowan CT, Huguenin HS, Enns EG, Manning MM. .
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    70. ISOLATED SULFITE OXIDASE DEFICIENCY PRESENTING AS NEONATAL SEIZURES REFRACTORY TO TREATMENT.: 363. Journal of Investigative Medicine. 2004 Jan 1; 52:s142. Gallagher GR, Hoyme HH, Cowan CT, Schrijver SI, Enns EG. .
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    71. 363 ISOLATED SULFITE OXIDASE DEFICIENCY PRESENTING AS NEONATAL SEIZURES REFRACTORY TO TREATMENT. Journal of Investigative Medicine. 2004 Jan 1; 52(Suppl 1):s142. Gallagher GR, Hoyme HH, Cowan CT, Schrijver SI, Enns EG. .
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    72. Toriello-Carey syndrome: delineation and review. Am J Med Genet A. 2003 Nov 15; 123A(1):84-90. 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 W, Pauli R, Seaver L, Tsai A, Wargowsky D, Williams M, Zackai E. PMID: 14556252.
      View in: PubMed   Mentions: 9     Fields:    Translation:Humans
    73. 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. Gallagher RC, Pils B, Albalwi M, Francke U. PMID: 12154412; PMCID: PMC379204.
      View in: PubMed   Mentions: 45     Fields:    Translation:HumansCells
    74. A promoter region mutation affecting replication of the Tetrahymena ribosomal DNA minichromosome. Mol Cell Biol. 1998 May; 18(5):3021-33. Gallagher RC, Blackburn EH. PMID: 9566921; PMCID: PMC110681.
      View in: PubMed   Mentions: 12     Fields:    Translation:AnimalsCells
    75. 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. Mol Cell Biol. 1995 Jun; 15(6):3372-81. Pan WJ, Gallagher RC, Blackburn EH. PMID: 7760833; PMCID: PMC230571.
      View in: PubMed   Mentions: 11     Fields:    Translation:AnimalsCells
    76. In vivo and in vitro studies of telomeres and telomerase. Cold Spring Harb Symp Quant Biol. 1993; 58:707-18. Lee MS, Gallagher RC, Bradley J, Blackburn EH. PMID: 7956088.
      View in: PubMed   Mentions: 13     Fields:    Translation:AnimalsCells
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