Epidemiologic and genetic aspects of spina bifida and other neural tube defects

by Au, Kit Sing, Ashley-Koch, Allison, Northrup, Hope
Published 2010

A 10 bp Deletion Polymorphism and 2 New Variations in the GLUT1 Gene Associated With Meningomyelocele

by Cormier, Clint M., Au, Kit Sing, Northrup, Hope
Published 2011

Genetic Studies of the Cystathionine Beta-Synthase Gene and Myelomeningocele

by Tilley, Melissa M., Northrup, Hope, Au, Kit Sing
Published 2011

Deep Sequencing Study of the MTHFR Gene to Identify Variants Associated with Myelomeningocele

by Aneji, Chiamaka U, Northrup, Hope, Au, Kit Sing
Published 2012

Novel single nucleotide polymorphisms in the superoxide dismutase 1 and 2 genes among children with myelomeningocele

by Kase, Benjamin A., Northrup, Hope, Au, Kit Sing
Published 2013

Genetic variations in the GLUT3 gene associated with myelomeningocele

by Connealy, Brendan D., Northrup, Hope, Au, Kit Sing
Published 2014

Association of Facilitated Glucose Transporter 2 gene variants with the Myelomeningocele phenotype

by Ruggiero, Jaclyn E, Northrup, Hope, Au, Kit Sing
Published in Birth Defects Res A Clin Mol Teratol (2015)

Complete Inactivation of the TSC2 Gene Leads to Formation of Hamartomas

by Au, Kit-Sing, Hebert, Adelaide A., Roach, E. Steve, Northrup, Hope
Published 1999

Maternal Gene-Micronutrient Interactions Related to One-Carbon Metabolism and the Risk of Myelomeningocele Among Offspring

by Nguyen, Margaret, Lupo, Philip, Northrup, Hope, Morrison, Alanna, Cirino, Paul, Au, Kit Sing
Published in Birth Defects Res (2017)

Genetic Association of the Glycine Cleavage System Genes and Myelomeningocele

by Shah, Rita H., Northrup, Hope, Hixson, James E., Morrison, Alanna C., Au, Kit Sing
Published in Birth Defects Res A Clin Mol Teratol (2016)

Snx3 is important for mammalian neural tube closure via its role in canonical and non-canonical WNT signaling

by Brown, Heather Mary, Murray, Stephen A., Northrup, Hope, Au, Kit Sing, Niswander, Lee A.
Published in Development (2020)

Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets

by Ruppe, Mary D, Brosnan, Patrick G, Au, Kit Sing, Tran, Phong X, Dominguez, Barbara W, Northrup, Hope
Published 2011

Genes in Glucose Metabolism and Association With Spina Bifida

by Davidson, Christina M., Northrup, Hope, King, Terri M., Fletcher, Jack M., Townsend, Irene, Tyerman, Gayle H., Au, Kit Sing
Published 2008

Genetic Association Study of Putative Functional Single Nucleotide Polymorphisms of Genes in Folate Metabolism and Spina Bifida

by Martinez, Carla A., Northrup, Hope, Lin, Jone-Ing, Morrison, Alanna C., Fletcher, Jack M., Tyerman, Gayle H., Au, Kit Sing
Published 2009

Association of Retinoic Acid Receptor Genes with Meningomyelocele

by Tran, Phong X., Au, Kit Sing, Morrison, Alanna C., Fletcher, Jack M., Ostermaier, Kathryn K., Tyerman, Gayle H., Northrup, Hope
Published 2010

Mutations in Folate Transporter Genes and Risk for Human Myelomeningocele

by Findley, Tina, Tenpenny, Joy C., O’Byrne, Michelle R., Morrison, Alanna C., Hixson, James E., Northrup, Hope, Au, Kit Sing
Published in Am J Med Genet A (2017)

Folate Metabolism Gene 5,10-Methylenetetrahydrofolate Reductase (MTHFR) Is Associated with ADHD in Myelomeningocele Patients

by Spellicy, Catherine J., Northrup, Hope, Fletcher, Jack M., Cirino, Paul T., Dennis, Maureen, Morrison, Alanna C., Martinez, Carla A., Au, Kit Sing
Published 2012

Identification of novel candidate risk genes for myelomeningocele within the glucose homeostasis/oxidative stress and folate/one‐carbon metabolism networks

by Hillman, Paul, Baker, Craig, Hebert, Luke, Brown, Michael, Hixson, James, Ashley‐Koch, Allison, Morrison, Alanna C., Northrup, Hope, Au, Kit Sing
Published in Mol Genet Genomic Med (2020)

Clinical Electroencephalographic Biomarker for Impending Epilepsy in Asymptomatic Tuberous Sclerosis Complex Infants

by Wu, Joyce Y., Peters, Jurriaan M., Goyal, Monisha, Krueger, Darcy, Sahin, Mustafa, Northrup, Hope, Au, Kit Sing, Cutter, Gary, Bebin, E. Martina
Published in Pediatr Neurol (2015)

Burden of rare deleterious variants in WNT signaling genes among 511 myelomeningocele patients

by Hebert, Luke, Hillman, Paul, Baker, Craig, Brown, Michael, Ashley-Koch, Allison, Hixson, James E., Morrison, Alanna C., Northrup, Hope, Au, Kit Sing
Published in PLoS One (2020)