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

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

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

por Hillman, Paul, Baker, Craig, Hebert, Luke, Brown, Michael, Hixson, James, Ashley‐Koch, Allison, Morrison, Alanna C., Northrup, Hope, Au, Kit Sing
Publicado 2020

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

por Hebert, Luke, Hillman, Paul, Baker, Craig, Brown, Michael, Ashley-Koch, Allison, Hixson, James E., Morrison, Alanna C., Northrup, Hope, Au, Kit Sing
Publicado 2020

Scalp EEG spikes predict impending epilepsy in TSC infants: A longitudinal observational study

por Wu, Joyce Y., Goyal, Monisha, Peters, Jurriaan M., Krueger, Darcy, Sahin, Mustafa, Northrup, Hope, Au, Kit S., O’Kelley, Sarah, Williams, Marian, Pearson, Deborah A., Hanson, Ellen, Byars, Anna W., Krefting, Jessica, Beasley, Mark, Cutter, Gary, Limdi, Nita, Bebin, E. Martina
Publicado 2019

The genomic landscape of tuberous sclerosis complex

por Martin, Katie R., Zhou, Wanding, Bowman, Megan J., Shih, Juliann, Au, Kit Sing, Dittenhafer-Reed, Kristin E., Sisson, Kellie A., Koeman, Julie, Weisenberger, Daniel J., Cottingham, Sandra L., DeRoos, Steven T., Devinsky, Orrin, Winn, Mary E., Cherniack, Andrew D., Shen, Hui, Northrup, Hope, Krueger, Darcy A., MacKeigan, Jeffrey P.
Publicado 2017

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

por Bogaert, Elke, Garde, Aurore, Gautier, Thierry, Rooney, Kathleen, Duffourd, Yannis, LeBlanc, Pontus, van Reempts, Emma, Tran Mau-Them, Frederic, Wentzensen, Ingrid M., Au, Kit Sing, Richardson, Kate, Northrup, Hope, Gatinois, Vincent, Geneviève, David, Louie, Raymond J., Lyons, Michael J., Laulund, Lone Walentin, Brasch-Andersen, Charlotte, Maxel Juul, Trine, El It, Fatima, Marle, Nathalie, Callier, Patrick, Relator, Raissa, Haghshenas, Sadegheh, McConkey, Haley, Kerkhof, Jennifer, Cesario, Claudia, Novelli, Antonio, Brunetti-Pierri, Nicola, Pinelli, Michele, Pennamen, Perrine, Naudion, Sophie, Legendre, Marine, Courdier, Cécile, Trimouille, Aurelien, Fenzy, Martine Doco, Pais, Lynn, Yeung, Alison, Nugent, Kimberly, Roeder, Elizabeth R., Mitani, Tadahiro, Posey, Jennifer E., Calame, Daniel, Yonath, Hagith, Rosenfeld, Jill A., Musante, Luciana, Faletra, Flavio, Montanari, Francesca, Sartor, Giovanna, Vancini, Alessandra, Seri, Marco, Besmond, Claude, Poirier, Karine, Hubert, Laurence, Hemelsoet, Dimitri, Munnich, Arnold, Lupski, James R., Philippe, Christophe, Thauvin-Robinet, Christel, Faivre, Laurence, Sadikovic, Bekim, Govin, Jérôme, Dermaut, Bart, Vitobello, Antonio
Publicado 2023