Maffucci Syndrome, Calcium Homeostasis, and Endocrine Challenges in Management

gan Ginnard, Olivia Z B, Burrage, Lindsay C, Karaviti, Lefkothea P
Cyhoeddwyd yn J Endocr Soc (2021)

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

gan Atwal, Paldeep S., Medina, Casey R., Burrage, Lindsay C., Sutton, V. Reid
Cyhoeddwyd yn J Hum Genet (2016)

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

gan Burrage, Lindsay C., Nagamani, Sandesh C.S., Campeau, Philippe M., Lee, Brendan H.
Cyhoeddwyd 2014

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

gan Pferdehirt, Rachel, Jain, Mahim, Blazo, Maria A., Lee, Brendan, Burrage, Lindsay C.
Cyhoeddwyd yn Mol Genet Metab Rep (2015)

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

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

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

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

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

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

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

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

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

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

Biomarkers for Liver Disease in Urea Cycle Disorders

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

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

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

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

Maternal Folate Polymorphisms and the Etiology of Human Nondisjunction

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

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

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

Early Childhood Presentation of Czech Dysplasia

gan 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.
Cyhoeddwyd 2013

Analyzing complex traits with congenic strains

gan 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.
Cyhoeddwyd 2010

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

gan 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.
Cyhoeddwyd yn Am J Med Genet A (2017)

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation

gan 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.
Cyhoeddwyd yn Am J Hum Genet (2018)

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

gan 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.
Cyhoeddwyd yn Am J Med Genet A (2015)

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

gan 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.
Cyhoeddwyd 2011