Maffucci Syndrome, Calcium Homeostasis, and Endocrine Challenges in Management

by Ginnard, Olivia Z B, Burrage, Lindsay C, Karaviti, Lefkothea P
Published in J Endocr Soc (2021)

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

by Atwal, Paldeep S., Medina, Casey R., Burrage, Lindsay C., Sutton, V. Reid
Published in J Hum Genet (2016)

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

by Burrage, Lindsay C., Nagamani, Sandesh C.S., Campeau, Philippe M., Lee, Brendan H.
Published 2014

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

by Pferdehirt, Rachel, Jain, Mahim, Blazo, Maria A., Lee, Brendan, Burrage, Lindsay C.
Published in Mol Genet Metab Rep (2015)

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

by Burrage, Lindsay C., Jain, Mahim, Gandolfo, Laura, Lee, Brendan H., Nagamani, Sandesh CS.
Published 2014

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

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

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

by Burrage, Lindsay C., Eble, Tanya N., Hixson, Patricia M., Roney, Erin K., Cheung, Sau W., Franco, Luis M.
Published in Am J Med Genet A (2013)

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

by Kumar, Runjun D., Burrage, Lindsay C., Bartos, Jan, Ali, Saima, Schmitt, Eric, Nagamani, Sandesh C.S., LeMons, Cynthia
Published in Mol Genet Metab Rep (2021)

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

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

Biomarkers for Liver Disease in Urea Cycle Disorders

by Nagamani, Sandesh C.S., Ali, Saima, Izem, Rima, Schady, Deborah, Masand, Prakash, Shneider, Benjamin L., Leung, Daniel H., Burrage, Lindsay C.
Published in Mol Genet Metab (2021)

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

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

by Almannai, Mohammed, Marom, Ronit, Divin, Kristian, Scaglia, Fernando, Sutton, V. Reid, Craigen, William J., Lee, Brendan, Burrage, Lindsay C., Graham, Brett H.
Published in Mol Genet Metab (2017)

Maternal Folate Polymorphisms and the Etiology of Human Nondisjunction

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

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

by Burrage, Lindsay C., Miller, Marcus J., Wong, Lee-Jun, Kennedy, Adam D., Sutton, V. Reid, Sun, Qin, Elsea, Sarah H., Graham, Brett H.
Published in J Pediatr (2015)

Early Childhood Presentation of Czech Dysplasia

by 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.
Published 2013

Analyzing complex traits with congenic strains

by 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.
Published 2010

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

by 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.
Published in Am J Med Genet A (2017)

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation

by 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.
Published in Am J Hum Genet (2018)

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

by 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.
Published in Am J Med Genet A (2015)

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

by 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.
Published 2011