Shift work in nurses: contribution of phenotypes and genotypes to adaptation
Gamble, Karen L, Motsinger-Reif, Alison A, Hida, Akiko, Borsetti, Hugo M, Servick, Stein V, Ciarleglio, Christopher M, Robbins, Sam, Hicks, Jennifer, Carver, Krista, Hamilton, Nalo, Wells, Nancy, Summar, Marshall L, McMahon, Douglas G, Johnson, Carl Hirschie
Published in PloS one (13.04.2011)
Published in PloS one (13.04.2011)
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Journal Article
A novel mutation in the promoter of RARS2 causes pontocerebellar hypoplasia in two siblings
Li, Zejuan, Schonberg, Rhonda, Guidugli, Lucia, Johnson, Amy Knight, Arnovitz, Stephen, Yang, Sandra, Scafidi, Joseph, Summar, Marshall L, Vezina, Gilbert, Das, Soma, Chapman, Kimberly, del Gaudio, Daniela
Published in Journal of human genetics (01.07.2015)
Published in Journal of human genetics (01.07.2015)
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Journal Article
Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders
Summar, Marshall L, Mew, Nicholas Ah
Published in The Pediatric clinics of North America (01.04.2018)
Published in The Pediatric clinics of North America (01.04.2018)
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Journal Article
L-Citrulline ameliorates chronic hypoxia-induced pulmonary hypertension in newborn piglets
Ananthakrishnan, Madhumita, Barr, Frederick E, Summar, Marshall L, Smith, Heidi A, Kaplowitz, Mark, Cunningham, Gary, Magarik, Jordan, Zhang, Yongmei, Fike, Candice D
Published in American journal of physiology. Lung cellular and molecular physiology (01.09.2009)
Published in American journal of physiology. Lung cellular and molecular physiology (01.09.2009)
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Journal Article
Genetic Differences in Human Circadian Clock Genes among Worldwide Populations
Ciarleglio, Christopher M, Ryckman, Kelli K, Servick, Stein V, Hida, Akiko, Robbins, Sam, Wells, Nancy, Hicks, Jennifer, Larson, Sydney A, Wiedermann, Joshua P, Carver, Krista, Hamilton, Nalo, Kidd, Kenneth K, Kidd, Judith R, Smith, Jeffrey R, Friedlaender, Jonathan, McMahon, Douglas G, Williams, Scott M, Summar, Marshall L, Johnson, Carl Hirschie
Published in Journal of biological rhythms (01.08.2008)
Published in Journal of biological rhythms (01.08.2008)
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Journal Article
Association of citrulline concentration at birth with lower respiratory tract infection in infancy: Findings from a multi-site birth cohort study
Snyder, Brittney M, Gebretsadik, Tebeb, Turi, Kedir N, McKennan, Christopher, Havstad, Suzanne, Jackson, Daniel J, Ober, Carole, Lynch, Susan, McCauley, Kathryn, Seroogy, Christine M, Zoratti, Edward M, Khurana Hershey, Gurjit K, Berdnikovs, Sergejs, Cunningham, Gary, Summar, Marshall L, Gern, James E, Hartert, Tina V
Published in Frontiers in pediatrics (17.10.2022)
Published in Frontiers in pediatrics (17.10.2022)
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Journal Article
Pharmacokinetics and safety of intravenously administered citrulline in children undergoing congenital heart surgery: Potential therapy for postoperative pulmonary hypertension
Barr, Frederick E., MD, MSci, Tirona, Rommel G., PhD, Taylor, Mary B., MD, MSci, Rice, Geraldine, RN, BSN, Arnold, Judith, RN, BSN, Cunningham, Gary, MS, Smith, Heidi A.B., MD, MSci, Campbell, Adam, BS, Canter, Jeffrey A., MD, MPH, Christian, Karla G., MD, Drinkwater, Davis C., MD, Scholl, Frank, MD, Kavanaugh-McHugh, Ann, MD, Summar, Marshall L., MD
Published in The Journal of thoracic and cardiovascular surgery (01.08.2007)
Published in The Journal of thoracic and cardiovascular surgery (01.08.2007)
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Journal Article
The incidence of urea cycle disorders
Summar, Marshall L., Koelker, Stefan, Freedenberg, Debra, Le Mons, Cynthia, Haberle, Johannes, Lee, Hye-Seung, Kirmse, Brian
Published in Molecular genetics and metabolism (01.09.2013)
Published in Molecular genetics and metabolism (01.09.2013)
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Journal Article
Population screening in a Druze community: the challenge and the reward
Falik-Zaccai, Tzipora C., Kfir, Nechama, Frenkel, Pnina, Cohen, Cindy, Tanus, Mary, Mandel, Hanna, Shihab, Shihab, Morkos, Siman, Aaref, Salameh, Summar, Marshall L., Khayat, Morad
Published in Genetics in medicine (01.12.2008)
Published in Genetics in medicine (01.12.2008)
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Journal Article
Tricarboxylic acid cycle enzyme activities in a mouse model of methylmalonic aciduria
Wongkittichote, Parith, Cunningham, Gary, Summar, Marshall L., Pumbo, Elena, Forny, Patrick, Baumgartner, Matthias R., Chapman, Kimberly A.
Published in Molecular genetics and metabolism (01.12.2019)
Published in Molecular genetics and metabolism (01.12.2019)
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Journal Article
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation
Kölker, Stefan, Cazorla, Angeles Garcia, Valayannopoulos, Vassili, Lund, Allan M., Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Augoustides-Savvopoulou, Persephone, Aksglaede, Lise, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, i Saladelafont, Elisenda Cortès, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Dvorakova, Veronika, Furlan, Francesca, Gleich, Florian, Gradowska, Wanda, Grünewald, Stephanie, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Lachmann, Robin, Laemmle, Alexander, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, de Baulny, Hélène Ogier, Ortez, Carlos, Peña-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Staufner, Christian, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Burgard, Peter
Published in Journal of inherited metabolic disease (01.11.2015)
Published in Journal of inherited metabolic disease (01.11.2015)
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Journal Article
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: the evolving clinical phenotype
Kölker, Stefan, Valayannopoulos, Vassili, Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Boy, S. P. Nikolas, Rasmussen, Marlene Bøgehus, Burgard, Peter, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, Cortès i Saladelafont, Elisenda, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Furlan, Francesca, Gleich, Florian, González, Maria Julieta, Gradowska, Wanda, Grünewald, Stephanie, Honzik, Tomas, Hörster, Friederike, Ioannou, Hariklea, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, Murphy, Elaine, de Baulny, Hélène Ogier, Ortez, Carlos, Pedrón, Consuelo C., Pintos-Morell, Guillem, Pena-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Lund, Allan M., Garcia Cazorla, Angeles
Published in Journal of inherited metabolic disease (01.11.2015)
Published in Journal of inherited metabolic disease (01.11.2015)
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Journal Article
Increased Prevalence of the HFE C282Y Hemochromatosis Allele in Women with Breast Cancer
KALLIANPUR, Asha R, HALL, Lynn D, YADAV, Meeta, CHRISTMAN, Brian W, DITTUS, Robert S, HAINES, Jonathan L, PARL, Fritz F, SUMMAR, Marshall L
Published in Cancer epidemiology, biomarkers & prevention (01.02.2004)
Published in Cancer epidemiology, biomarkers & prevention (01.02.2004)
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Journal Article
Relationship Between Carbamoyl-Phosphate Synthetase Genotype and Systemic Vascular Function
Summar, Marshall L, Gainer, James V, Pretorius, Mias, Malave, Hector, Harris, Stephanie, Hall, Lynn D, Weisberg, Alec, Vaughan, Douglas E, Christman, Brian W, Brown, Nancy J
Published in Hypertension (Dallas, Tex. 1979) (01.02.2004)
Published in Hypertension (Dallas, Tex. 1979) (01.02.2004)
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Journal Article
Natural history of propionic acidemia
Pena, Loren, Franks, Jill, Chapman, Kimberly A., Gropman, Andrea, Ah Mew, Nicholas, Chakrapani, Anupam, Island, Eddie, MacLeod, Erin, Matern, Dietrich, Smith, Brittany, Stagni, Kathy, Sutton, V. Reid, Ueda, Keiko, Urv, Tiina, Venditti, Charles, Enns, Gregory M., Summar, Marshall L.
Published in Molecular genetics and metabolism (01.01.2012)
Published in Molecular genetics and metabolism (01.01.2012)
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Journal Article
Cross-sectional multicenter study of patients with urea cycle disorders in the United States
Tuchman, Mendel, Lee, Brendan, Lichter-Konecki, Uta, Summar, Marshall L., Yudkoff, Marc, Cederbaum, Stephen D., Kerr, Douglas S., Diaz, George A., Seashore, Margaretta R., Lee, Hye-Seung, McCarter, Robert J., Krischer, Jeffrey P., Batshaw, Mark L.
Published in Molecular genetics and metabolism (01.08.2008)
Published in Molecular genetics and metabolism (01.08.2008)
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Journal Article
On the Creation, Utility and Sustaining of Rare Diseases Research Networks: Lessons learned from the Urea Cycle Disorders Consortium, the Japanese Urea Cycle Disorders Consortium and the European Registry and Network for Intoxication Type Metabolic Diseases
Summar, Marshall L., Endo, Fumio, Kölker, Stefan
Published in Molecular genetics and metabolism (01.09.2014)
Published in Molecular genetics and metabolism (01.09.2014)
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Journal Article