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Marshall L. Summar - Publications

Affiliations: 
Vanderbilt University, Nashville, TN 
Area:
Genetics, Molecular Biology
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48 high-probability publications. We are testing a new system for linking publications to authors. You can help! If you notice any inaccuracies, please sign in and mark papers as correct or incorrect matches. If you identify any major omissions or other inaccuracies in the publication list, please let us know.

Year Citation  Score
2020 Collado MS, Armstrong AJ, Olson M, Hoang SA, Day N, Summar M, Chapman KA, Reardon J, Figler RA, Wamhoff BR. Biochemical and anaplerotic applications of in vitro models of propionic acidemia and methylmalonic acidemia using patient-derived primary hepatocytes. Molecular Genetics and Metabolism. PMID 32451238 DOI: 10.1016/J.Ymgme.2020.05.003  0.322
2020 Posset R, Garbade SF, Boy N, Burlina AB, Dionisi-Vici C, Dobbelaere D, Garcia-Cazorla A, de Lonlay P, Teles EL, Vara R, Mew NA, Batshaw ML, Baumgartner MR, McCandless SE, Seminara J, ... Summar M, et al. Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders-A successful strategy for clinical research of rare diseases. Journal of Inherited Metabolic Disease. 42: 93-106. PMID 30740724 DOI: 10.1002/Jimd.12031  0.301
2019 Wongkittichote P, Cunningham G, Summar ML, Pumbo E, Forny P, Baumgartner MR, Chapman KA. Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria. Molecular Genetics and Metabolism. PMID 31648943 DOI: 10.1016/J.Ymgme.2019.10.007  0.331
2019 Dowsett L, Porras AR, Kruszka P, Davis B, Hu T, Honey E, Badoe E, Thong MK, Leon E, Girisha KM, Shukla A, Nayak SS, Shotelersuk V, Megarbane A, Phadke S, ... ... Summar M, et al. Cornelia de Lange syndrome in diverse populations. American Journal of Medical Genetics. Part A. PMID 30614194 DOI: 10.1002/Ajmg.A.61033  0.311
2018 Summar ML, Mew NA. Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders. Pediatric Clinics of North America. 65: 231-246. PMID 29502911 DOI: 10.1016/J.Pcl.2017.11.004  0.325
2017 Kruszka P, Porras AR, Addissie YA, Moresco A, Medrano S, Mok GTK, Leung GKC, Tekendo-Ngongang C, Uwineza A, Thong MK, Muthukumarasamy P, Honey E, Ekure EN, Sokunbi OJ, Kalu N, ... ... Summar M, et al. Noonan syndrome in diverse populations. American Journal of Medical Genetics. Part A. PMID 28748642 DOI: 10.1002/Ajmg.A.38362  0.301
2015 Kölker S, Valayannopoulos V, Burlina AB, Sykut-Cegielska J, Wijburg FA, Teles EL, Zeman J, Dionisi-Vici C, Bari? I, Karall D, Arnoux JB, Avram P, Baumgartner MR, Blasco-Alonso J, Boy SP, ... ... Summar ML, et al. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype. Journal of Inherited Metabolic Disease. PMID 25875216 DOI: 10.1007/S10545-015-9840-X  0.3
2014 Batshaw ML, Tuchman M, Summar M, Seminara J. A longitudinal study of urea cycle disorders. Molecular Genetics and Metabolism. 113: 127-30. PMID 25135652 DOI: 10.1016/J.Ymgme.2014.08.001  0.327
2013 Diez-Fernandez C, Martínez AI, Pekkala S, Barcelona B, Pérez-Arellano I, Guadalajara AM, Summar M, Cervera J, Rubio V. Molecular characterization of carbamoyl-phosphate synthetase (CPS1) deficiency using human recombinant CPS1 as a key tool. Human Mutation. 34: 1149-59. PMID 23649895 DOI: 10.1002/Humu.22349  0.401
2012 Pena L, Franks J, Chapman KA, Gropman A, Ah Mew N, Chakrapani A, Island E, MacLeod E, Matern D, Smith B, Stagni K, Sutton VR, Ueda K, Urv T, Venditti C, ... ... Summar ML, et al. Natural history of propionic acidemia. Molecular Genetics and Metabolism. 105: 5-9. PMID 21986446 DOI: 10.1016/J.Ymgme.2011.09.022  0.343
2012 Stankiewicz P, Kulkarni S, Dharmadhikari AV, Sampath S, Bhatt SS, Shaikh TH, Xia Z, Pursley AN, Cooper ML, Shinawi M, Paciorkowski AR, Grange DK, Noetzel MJ, Saunders S, Simons P, ... Summar M, et al. Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats. Human Mutation. 33: 165-79. PMID 21948486 DOI: 10.1002/Humu.21614  0.338
2011 Owens SE, Summar ML, Ryckman KK, Haines JL, Reiss S, Summar SR, Aschner M. Lack of association between autism and four heavy metal regulatory genes. Neurotoxicology. 32: 769-75. PMID 21798283 DOI: 10.1016/J.Neuro.2011.07.003  0.367
2011 Häberle J, Shchelochkov OA, Wang J, Katsonis P, Hall L, Reiss S, Eeds A, Willis A, Yadav M, Summar S, Lichtarge O, Rubio V, Wong LJ, Summar M. Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations. Human Mutation. 32: 579-89. PMID 21120950 DOI: 10.1002/Humu.21406  0.741
2010 Le TM, Willis AS, Barr FE, Cunningham GR, Canter JA, Owens SE, Apple RK, Ayodo G, Reich D, Summar ML. An ethnic-specific polymorphism in the catalytic subunit of glutamate-cysteine ligase impairs the production of glutathione intermediates in vitro. Molecular Genetics and Metabolism. 101: 55-61. PMID 20655259 DOI: 10.1016/J.Ymgme.2010.05.013  0.733
2010 Le TM, Willis AS, Haines JL, Summar ML, Cornfield DN. An Insertion/Deletion Polymorphism in the Glutathione Biosynthesis Pathway Is Associated with Earlier Onset of Alzheimer's Disease and Increased Susceptibility to Oxidant Injury In Vitro Free Radical Biology and Medicine. 49: S188. DOI: 10.1016/J.Freeradbiomed.2010.10.538  0.302
2009 Neill MA, Aschner J, Barr F, Summar ML. Quantitative RT-PCR comparison of the urea and nitric oxide cycle gene transcripts in adult human tissues. Molecular Genetics and Metabolism. 97: 121-7. PMID 19345634 DOI: 10.1016/J.Ymgme.2009.02.009  0.342
2009 Mitchell S, Ellingson C, Coyne T, Hall L, Neill M, Christian N, Higham C, Dobrowolski SF, Tuchman M, Summar M. Genetic variation in the urea cycle: a model resource for investigating key candidate genes for common diseases. Human Mutation. 30: 56-60. PMID 18666241 DOI: 10.1002/Humu.20813  0.424
2008 Ciarleglio CM, Ryckman KK, Servick SV, Hida A, Robbins S, Wells N, Hicks J, Larson SA, Wiedermann JP, Carver K, Hamilton N, Kidd KK, Kidd JR, Smith JR, Friedlaender J, ... ... Summar ML, et al. Genetic differences in human circadian clock genes among worldwide populations. Journal of Biological Rhythms. 23: 330-40. PMID 18663240 DOI: 10.1177/0748730408320284  0.341
2008 Tuchman M, Lee B, Lichter-Konecki U, Summar ML, Yudkoff M, Cederbaum SD, Kerr DS, Diaz GA, Seashore MR, Lee HS, McCarter RJ, Krischer JP, Batshaw ML. Cross-sectional multicenter study of patients with urea cycle disorders in the United States. Molecular Genetics and Metabolism. 94: 397-402. PMID 18562231 DOI: 10.1016/J.Ymgme.2008.05.004  0.321
2008 Cotton RG, Auerbach AD, Beckmann JS, Blumenfeld OO, Brookes AJ, Brown AF, Carrera P, Cox DW, Gottlieb B, Greenblatt MS, Hilbert P, Lehvaslaiho H, Liang P, Marsh S, Nebert DW, ... ... Summar M, et al. Recommendations for locus-specific databases and their curation. Human Mutation. 29: 2-5. PMID 18157828 DOI: 10.1002/Humu.20650  0.38
2007 Gropman AL, Summar M, Leonard JV. Neurological implications of urea cycle disorders. Journal of Inherited Metabolic Disease. 30: 865-79. PMID 18038189 DOI: 10.1007/S10545-007-0709-5  0.309
2007 Eeds AM, Mortlock D, Wade-Martins R, Summar ML. Assessing the functional characteristics of synonymous and nonsynonymous mutation candidates by use of large DNA constructs. American Journal of Human Genetics. 80: 740-50. PMID 17357079 DOI: 10.1086/513287  0.781
2007 Canter JA, Summar ML, Smith HB, Rice GD, Hall LD, Ritchie MD, Motsinger AA, Christian KG, Drinkwater DC, Scholl FG, Dyer KL, Kavanaugh-McHugh AL, Barr FE. Genetic variation in the mitochondrial enzyme carbamyl-phosphate synthetase I predisposes children to increased pulmonary artery pressure following surgical repair of congenital heart defects: a validated genetic association study. Mitochondrion. 7: 204-10. PMID 17188582 DOI: 10.1016/J.Mito.2006.11.001  0.329
2006 Eeds AM, Hall LD, Yadav M, Willis A, Summar S, Putnam A, Barr F, Summar ML. The frequent observation of evidence for nonsense-mediated decay in RNA from patients with carbamyl phosphate synthetase I deficiency. Molecular Genetics and Metabolism. 89: 80-6. PMID 16737834 DOI: 10.1016/J.Ymgme.2006.04.006  0.742
2005 Singh RH, Rhead WJ, Smith W, Lee B, Sniderman King L, Summar M. Nutritional management of urea cycle disorders. Critical Care Clinics. 21: S27-35. PMID 16227113 DOI: 10.1016/J.Ccc.2005.08.003  0.301
2005 Lee B, Singh RH, Rhead WJ, Sniderman King L, Smith W, Summar ML. Considerations in the difficult-to-manage urea cycle disorder patient. Critical Care Clinics. 21: S19-25. PMID 16227112 DOI: 10.1016/J.Ccc.2005.05.001  0.306
2005 Summar ML, Barr F, Dawling S, Smith W, Lee B, Singh RH, Rhead WJ, Sniderman King L, Christman BW. Unmasked adult-onset urea cycle disorders in the critical care setting. Critical Care Clinics. 21: S1-8. PMID 16227111 DOI: 10.1016/J.Ccc.2005.05.002  0.301
2005 Kallianpur AR, Hall LD, Yadav M, Byrne DW, Speroff T, Dittus RS, Haines JL, Christman BW, Summar ML. The hemochromatosis C282Y allele: a risk factor for hepatic veno-occlusive disease after hematopoietic stem cell transplantation. Bone Marrow Transplantation. 35: 1155-64. PMID 15834437 DOI: 10.1038/Sj.Bmt.1704943  0.302
2005 Caldovic L, Morizono H, Panglao MG, Lopez GY, Shi D, Summar ML, Tuchman M. Late onset N-acetylglutamate synthase deficiency caused by hypomorphic alleles. Human Mutation. 25: 293-8. PMID 15714518 DOI: 10.1002/Humu.20146  0.397
2005 Canter JA, Eshaghian A, Fessel J, Summar ML, Roberts LJ, Morrow JD, Sligh JE, Haines JL. Degree of heteroplasmy reflects oxidant damage in a large family with the mitochondrial DNA A8344G mutation. Free Radical Biology & Medicine. 38: 678-83. PMID 15683723 DOI: 10.1016/J.Freeradbiomed.2004.11.031  0.316
2005 Moore JH, Boczko EM, Summar ML. Connecting the dots between genes, biochemistry, and disease susceptibility: systems biology modeling in human genetics. Molecular Genetics and Metabolism. 84: 104-11. PMID 15670716 DOI: 10.1016/J.Ymgme.2004.10.006  0.314
2005 Exil VJ, Summar M, Boles MA, Atkinson J, Johns JA, Matern D, Strauss AW, Canter CE. Metabolic basis of pediatric heart disease Progress in Pediatric Cardiology. 20: 143-159. DOI: 10.1016/J.Ppedcard.2005.04.005  0.302
2004 Loscalzo ML, Galczynski RL, Hamosh A, Summar M, Chinsky JM, Thomas GH. Interstitial deletion of chromosome 2q32-34 associated with multiple congenital anomalies and a urea cycle defect (CPS I deficiency). American Journal of Medical Genetics. Part A. 128: 311-5. PMID 15216554 DOI: 10.1002/Ajmg.A.30105  0.322
2004 Williams SM, Ritchie MD, Phillips JA, Dawson E, Prince M, Dzhura E, Willis A, Semenya A, Summar M, White BC, Addy JH, Kpodonu J, Wong LJ, Felder RA, Jose PA, et al. Multilocus analysis of hypertension: a hierarchical approach. Human Heredity. 57: 28-38. PMID 15133310 DOI: 10.1159/000077387  0.731
2004 Summar ML, Hall L, Christman B, Barr F, Smith H, Kallianpur A, Brown N, Yadav M, Willis A, Eeds A, Cermak E, Summar S, Wilson A, Arvin M, Putnam A, et al. Environmentally determined genetic expression: clinical correlates with molecular variants of carbamyl phosphate synthetase I. Molecular Genetics and Metabolism. 81: S12-9. PMID 15050969 DOI: 10.1016/J.Ymgme.2003.11.014  0.735
2003 Summar ML, Hall LD, Eeds AM, Hutcheson HB, Kuo AN, Willis AS, Rubio V, Arvin MK, Schofield JP, Dawson EP. Characterization of genomic structure and polymorphisms in the human carbamyl phosphate synthetase I gene. Gene. 311: 51-7. PMID 12853138 DOI: 10.1016/S0378-1119(03)00528-6  0.733
2003 Willis AS, Freeman ML, Summar SR, Barr FE, Williams SM, Dawson E, Summar ML. Ethnic diversity in a critical gene responsible for glutathione synthesis. Free Radical Biology & Medicine. 34: 72-6. PMID 12498981 DOI: 10.1016/S0891-5849(02)01178-4  0.738
2002 Spiekerkoetter U, Eeds A, Yue Z, Haines J, Strauss AW, Summar M. Uniparental disomy of chromosome 2 resulting in lethal trifunctional protein deficiency due to homozygous alpha-subunit mutations. Human Mutation. 20: 447-51. PMID 12442268 DOI: 10.1002/Humu.10142  0.77
1998 Summar ML. Molecular genetic research into carbamoyl-phosphate synthase I: molecular defects and linkage markers. Journal of Inherited Metabolic Disease. 30-9. PMID 9686343 DOI: 10.1023/A:1005349306311  0.416
1998 Dasouki MJ, Cogan J, Summar ML, Neblitt W, Foroud T, Koller D, Phillips JA. Heterogeneity in hereditary pancreatitis. American Journal of Medical Genetics. 77: 47-53. PMID 9557894 DOI: 10.1002/(Sici)1096-8628(19980428)77:1<47::Aid-Ajmg11>3.0.Co;2-O  0.372
1997 Sekhar KR, Long M, Long J, Xu Z, Summar ML, Freeman ML. Alteration of Transcriptional and Post-Transcriptional Expression of Gamma-Glutamylcysteine Synthetase by Diethyl Maleate Radiation Research. 147: 592. DOI: 10.2307/3579626  0.304
1996 Sierra-Rivera E, Dasouki M, Summar ML, Krishnamani MR, Meredith M, Rao PN, Phillips JA, Freeman ML. Assignment of the human gene (GLCLR) that encodes the regulatory subunit of gamma-glutamylcysteine synthetase to chromosome 1p21. Cytogenetics and Cell Genetics. 72: 252-4. PMID 8978789 DOI: 10.1159/000134202  0.31
1996 Hunley TE, Julian BA, Phillips JA, Summar ML, Yoshida H, Horn RG, Brown NJ, Fogo A, Ichikawa I, Kon V. Angiotensin converting enzyme gene polymorphism: potential silencer motif and impact on progression in IgA nephropathy. Kidney International. 49: 571-7. PMID 8821846 DOI: 10.1038/Ki.1996.81  0.382
1995 Sierra-Rivera E, Summar ML, Dasouki M, Krishnamani MR, Phillips JA, Freeman ML. Assignment of the gene (GLCLC) that encodes the heavy subunit of gamma-glutamylcysteine synthetase to human chromosome 6. Cytogenetics and Cell Genetics. 70: 278-9. PMID 7789189 DOI: 10.1159/000134051  0.312
1994 Tiller GE, Polumbo PA, Summar ML. Linkage mapping of the gene for type III collagen (COL3A1) to human chromosome 2q using a VNTR polymorphism. Genomics. 20: 275-7. PMID 8020975 DOI: 10.1006/Geno.1994.1164  0.307
1994 Pérez Jurado LA, Phillips JA, Summar ML, Mao J, Weber JL, Schaefer FV, Hazan J, Argente J. Genetic mapping of the human growth hormone-releasing factor gene (GHRF) using two intragenic polymorphisms detected by PCR amplification. Genomics. 20: 132-4. PMID 8020943 DOI: 10.1006/Geno.1994.1140  0.336
1993 Summar ML. The use of linkage analysis and the Centre d'Etude Polymorphisme Humain (CEPH) panel of DNA in the study of the arginine vasopressin, oxytocin and prodynorphin gene loci. Progress in Brain Research. 93: 309-17. PMID 1362280 DOI: 10.1016/S0079-6123(08)64581-1  0.339
1990 Summar ML, Phillips JA, Battey J, Castiglione CM, Kidd KK, Maness KJ, Weiffenbach B, Gravius TC. Linkage relationships of human arginine vasopressin-neurophysin-II and oxytocin-neurophysin-I to prodynorphin and other loci on chromosome 20. Molecular Endocrinology (Baltimore, Md.). 4: 947-50. PMID 1978246 DOI: 10.1210/Mend-4-6-947  0.342
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