19-Year Follow-up of A Patient With Severe Glutathione Synthetase Deficiency

Por Atwal, Paldeep S., Medina, Casey R., Burrage, Lindsay C., Sutton, V. Reid
Publicado no J Hum Genet (2016)

Branched-chain amino acid metabolism: from rare Mendelian diseases to more common disorders

Por Burrage, Lindsay C., Nagamani, Sandesh C.S., Campeau, Philippe M., Lee, Brendan H.
Publicado em 2014

Catel–Manzke syndrome: Further delineation of the phenotype associated with pathogenic variants in TGDS

Por Pferdehirt, Rachel, Jain, Mahim, Blazo, Maria A., Lee, Brendan, Burrage, Lindsay C.
Publicado no Mol Genet Metab Rep (2015)

Sodium Phenylbutyrate Decreases Plasma Branched-Chain Amino Acids in Patients with Urea Cycle Disorders

Por Burrage, Lindsay C., Jain, Mahim, Gandolfo, Laura, Lee, Brendan H., Nagamani, Sandesh CS.
Publicado em 2014

Pleiotropy, Homeostasis, and Functional Networks Based on Assays of Cardiovascular Traits in Genetically Randomized Populations

Por Nadeau, Joseph H., Burrage, Lindsay C., Restivo, Joe, Pao, Yoh-Han, Churchill, Gary, Hoit, Brian D.
Publicado em 2003

A Mosaic 2q24.2 Deletion Narrows the Critical Region to a 0.4 Mb Interval That Includes TBR1, TANK, and PSMD14

Por Burrage, Lindsay C., Eble, Tanya N., Hixson, Patricia M., Roney, Erin K., Cheung, Sau W., Franco, Luis M.
Publicado no Am J Med Genet A (2013)

A deep intronic variant is a common cause of OTC deficiency in individuals with previously negative genetic testing

Por Kumar, Runjun D., Burrage, Lindsay C., Bartos, Jan, Ali, Saima, Schmitt, Eric, Nagamani, Sandesh C.S., LeMons, Cynthia
Publicado no Mol Genet Metab Rep (2021)

Increased mitochondrial oxidative phosphorylation in the liver is associated with obesity and insulin resistance

Por Buchner, David A., Yazbek, Soha N., Solinas, Paola, Burrage, Lindsay C., Morgan, Michael G., Hoppel, Charles L., Nadeau, Joseph H.
Publicado em 2010

Resistance to diet-induced obesity in mice with a single substituted chromosome

Por Buchner, David A., Burrage, Lindsay C., Hill, Annie E., Yazbek, Soha N., O'Brien, William E., Croniger, Colleen M., Nadeau, Joseph H.
Publicado em 2008

Milder Clinical and Biochemical Phenotypes Associated with the c.482G>A (p.Arg161Gln) Pathogenic Variant in Cobalamin C Disease: Implications for Management and Screening

Por Almannai, Mohammed, Marom, Ronit, Divin, Kristian, Scaglia, Fernando, Sutton, V. Reid, Craigen, William J., Lee, Brendan, Burrage, Lindsay C., Graham, Brett H.
Publicado no Mol Genet Metab (2017)

Maternal Folate Polymorphisms and the Etiology of Human Nondisjunction

Por Hassold, Terry J., Burrage, Lindsay C., Chan, Ernest R., Judis, LuAnn M., Schwartz, Stuart, James, S. Jill, Jacobs, Patricia A., Thomas, N. Simon
Publicado em 2001

Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma

Por Burrage, Lindsay C., Miller, Marcus J., Wong, Lee-Jun, Kennedy, Adam D., Sutton, V. Reid, Sun, Qin, Elsea, Sarah H., Graham, Brett H.
Publicado no J Pediatr (2015)

Early Childhood Presentation of Czech Dysplasia

Por Burrage, Lindsay C., Lu, James T., Liu, David S., Moss, Timothy J., Gibbs, Richard, Schlesinger, Alan E., Bacino, Carlos A., Campeau, Philippe M., Lee, Brendan H.
Publicado em 2013

Analyzing complex traits with congenic strains

Por Shao, Haifeng, Sinasac, David S., Burrage, Lindsay C., Hodges, Craig A., Supelak, Pamela J., Palmert, Mark R., Moreno, Carol, Cowley, Allen W., Jacob, Howard J., Nadeau, Joseph H.
Publicado em 2010

Neonatal Fractures as a Presenting Feature of LMOD3-Associated Congenital Myopathy

Por Abbott, Megan, Jain, Mahim, Pferdehirt, Rachel, Chen, Yuqing, Tran, Alyssa, Duz, Mehmet Bugrahan, Seven, Mehmet, Gibbs, Richard A., Muzny, Donna, Lee, Brendan, Marom, Ronit, Burrage, Lindsay C.
Publicado no Am J Med Genet A (2017)

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation

Por Ng, Bobby G., Rosenfeld, Jill A., Emrick, Lisa, Jain, Mahim, Burrage, Lindsay C., Lee, Brendan, Craigen, William J., Bearden, David R., Graham, Brett H., Freeze, Hudson H.
Publicado no Am J Hum Genet (2018)

Adult Presentation of X-Linked Conradi-Hünermann-Happle Syndrome

Por Posey, Jennifer E., Burrage, Lindsay C., Campeau, Philippe M., Lu, James T., Eble, Tanya N., Kratz, Lisa, Schlesinger, Alan E., Gibbs, Richard A., Lee, Brendan H., Nagamani, Sandesh CS.
Publicado no Am J Med Genet A (2015)

Deep congenic analysis identifies many strong, context-dependent QTLs, one of which, Slc35b4, regulates obesity and glucose homeostasis

Por Yazbek, Soha N., Buchner, David A., Geisinger, Jonathan M., Burrage, Lindsay C., Spiezio, Sabrina H., Zentner, Gabriel E., Hsieh, Chang-Wen, Scacheri, Peter C., Croniger, Colleen M., Nadeau, Joseph H.
Publicado em 2011

Genetic resistance to diet-induced obesity in chromosome substitution strains of mice

Por Burrage, Lindsay C., Baskin-Hill, Annie E., Sinasac, David S., Singer, Jonathan B., Croniger, Colleen M., Kirby, Andrew, Kulbokas, E. J., Daly, Mark J., Lander, Eric S., Broman, Karl W., Nadeau, Joseph H.
Publicado em 2010

Lysinuric protein intolerance presenting with multiple fractures

Por Posey, Jennifer E., Burrage, Lindsay C., Miller, Marcus J., Liu, Pengfei, Hardison, Matthew T., Elsea, Sarah H., Sun, Qin, Yang, Yaping, Willis, Alecia S., Schlesinger, Alan E., Bacino, Carlos A., Lee, Brendan H.
Publicado no Mol Genet Metab Rep (2014)