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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.
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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.
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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.
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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.
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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.
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1 Fields:
Translation:
Humans
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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. .
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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. .
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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. .
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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. .
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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.
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PubMed Mentions:
16 Fields:
Translation:
HumansPHPublic Health
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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.
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PubMed Mentions:
8 Fields:
Translation:
Humans
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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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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. .
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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. .
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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.
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Translation:
Humans
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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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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.
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PubMed Mentions:
15 Fields:
Translation:
HumansAnimalsCells
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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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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.
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3 Fields:
Translation:
HumansPHPublic Health
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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. .
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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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37 Aminoacidemias and Organic Acidemias. Swaiman\u0027s Pediatric Neurology. 2017 Jan 1; 286-297.
Gallagher GR, Enns EG, Cowan CT, Mendelsohn MB, Packman PS. .
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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.
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PubMed Mentions:
3 Fields:
Translation:
HumansPHPublic Health
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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.
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PubMed Mentions:
13 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
29 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
5 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
4 Fields:
Translation:
HumansCTClinical Trials
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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.
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PubMed Mentions: Fields:
Translation:
HumansCTClinical Trials
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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.
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PubMed Mentions:
27 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
22 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
27 Fields:
Translation:
HumansCells
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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.
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6 Fields:
Translation:
Humans
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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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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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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.
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PubMed Mentions:
20 Fields:
Translation:
Humans
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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.
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PubMed Mentions:
25 Fields:
Translation:
HumansCTClinical Trials
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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.
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PubMed Mentions:
15 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
9 Fields:
Translation:
Humans
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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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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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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.
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PubMed Mentions:
22 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
21 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
18 Fields:
Translation:
HumansCellsPHPublic Health
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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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Fetal Anticonvulsant Syndrome. Management of Genetic Syndromes. 2010 Mar 17; 381-395.
Hoyme HH, Gallagher GR, Kingham KK. .
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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.
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PubMed Mentions:
38 Fields:
Translation:
Humans
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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.
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PubMed Mentions: Fields:
Translation:
HumansCells
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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:
33 Fields:
Translation:
Humans
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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.
Hanna RF, Ward TJ, Chow DS, Lagana SM, Moreira RK, Emond JC, Weintraub JL, Prince MR, 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
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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.
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PubMed Mentions:
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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.
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PubMed Mentions:
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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.
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PubMed Mentions:
19 Fields:
Translation:
HumansCells
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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.
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PubMed Mentions:
17 Fields:
Translation:
HumansCellsPHPublic Health
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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:
37 Fields:
Translation:
HumansCells
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Fetal Anticonvulsant Syndrome. Management of Genetic Syndromes. 2005 Jan 14.
Gallagher GR, Kingham KK, Hoyme HH. .
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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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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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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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Toriello-Carey syndrome: delineation and review. . 2003 Nov 15; 123A(1):84-90.
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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.
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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.
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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.
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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.
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