Malformation syndromes caused by disorders of cholesterol synthesis

av Porter, Forbes D., Herman, Gail E.
Publicerad 2011

Family-Based Clinical Associations and Functional Characterization of the Serotonin 2A Receptor Gene (HTR2A) in Autism Spectrum Disorder

av Smith, Ryan M., Banks, Wesley, Hansen, Emily, Sadee, Wolfgang, Herman, Gail E.
Publicerad 2014

Significant contributions of the extraembryonic membranes and maternal genotype to the placental pathology in heterozygous Nsdhl deficient female embryos

av Cunningham, David, Talabere, Tiffany, Bir, Natalie, Kennedy, Matthew, McBride, Kim L., Herman, Gail E.
Publicerad 2010

Developmental Expression Pattern of the Cholesterogenic Enzyme NSDHL and Negative Selection of NSDHL-deficient Cells in the Heterozygous Bpa(1H)/+ Mouse

av Cunningham, David, Spychala, Kaitlyn, McLarren, Keith W., Garza, Luis A., Boerkoel, Cornelius F., Herman, Gail E.
Publicerad 2009

Analysis of hedgehog signaling in cerebellar granule cell precursors in a conditional Nsdhl allele demonstrates an essential role for cholesterol in postnatal CNS development

av Cunningham, David, DeBarber, Andrea E., Bir, Natalie, Binkley, Laura, Merkens, Louise S., Steiner, Robert D., Herman, Gail E.
I publikationen Hum Mol Genet (2015)

Hematopoietic cell transplantation for a child with OSTM1 osteopetrosis

av Overholt, Kathleen M., Rose, Melissa J., Joshi, Sarita, Herman, Gail E., Bajwa, Rajinder, Abu-Arja, Rolla, Rangarajan, Hemalatha G., Horwitz, Edwin M.
I publikationen Blood Adv (2016)

Human CRMP4 mutation and disrupted Crmp4 expression in mice are associated with ASD characteristics and sexual dimorphism

av Tsutiya, Atsuhiro, Nakano, Yui, Hansen-Kiss, Emily, Kelly, Benjamin, Nishihara, Masugi, Goshima, Yoshio, Corsmeier, Don, White, Peter, Herman, Gail E., Ohtani-Kaneko, Ritsuko
I publikationen Sci Rep (2017)

Testing genetic modifiers of behavior and response to atomoxetine in autism spectrum disorder with ADHD

av Barrie, Elizabeth S., Pinsonneault, Julia K., Sadee, Wolfgang, Hollway, Jill A., Handen, Benjamin L., Smith, Tristram, Arnold, L. Eugene, Butter, Eric, Hansen-Kiss, Emily, Herman, Gail E., Aman, Michael G.
I publikationen J Dev Phys Disabil (2018)

CHINESE HAMSTER OVARY CELL-DERIVED RECOMBINANT HUMAN ACID α-GLUCOSIDASE IN INFANTILE-ONSET POMPE DISEASE

av Kishnani, Priya Sunil, Nicolino, Marc, Voit, Thomas, Rogers, R. Curtis, Tsai, Anne Chun-Hui, Waterson, John, Herman, Gail E., Amalfitano, Andreas, Thurberg, Beth L., Richards, Susan, Davison, Mark, Corzo, Deyanira, Chen, YT
Publicerad 2006

Endogenous sterol metabolites regulate growth of EGFR/KRAS-dependent tumors via LXR

av Gabitova, Linara, Restifo, Diana, Gorin, Andrey, Manocha, Kunal, Handorf, Elizabeth, Yang, Dong-Hua, Cai, Kathy Q., Klein-Szanto, Andres J., Cunningham, David, Kratz, Lisa E., Herman, Gail E., Golemis, Erica A., Astsaturov, Igor
I publikationen Cell Rep (2015)

Contactin 4 as an Autism Susceptibility Locus

av Cottrell, Catherine E., Bir, Natalie, Varga, Elizabeth, Alvarez, Carlos E., Bouyain, Samuel, Zernzach, Randall, LambThrush, Devon, Evans, Johnna, Trimarchi, Michael, Butter, Eric M., Cunningham, David, Gastier-Foster, Julie M., McBride, Kim, Herman, Gail E.
Publicerad 2011

ERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelination

av Shehata, Laila, Simeonov, Dimitre R., Raams, Anja, Wolfe, Lynne, Vanderver, Adeline, Li, Xueli, Huang, Yan, Garner, Shannon, Boerkoel, Cornelius F., Thurm, Audrey, Herman, Gail E., Tifft, Cynthia J., He, Miao, Jaspers, Nicolaas G.J., Gahl, William A.
Publicerad 2014

Phenotypic Analysis of Individuals With Costello Syndrome due to HRAS p.G13C

av Gripp, Karen W., Hopkins, Elizabeth, Sol-Church, Katia, Stabley, Deborah L., Axelrad, Marni E., Doyle, Daniel, Dobyns, William B., Hudson, Cindy, Johnson, John, Tenconi, Romano, Graham, Gail E., Sousa, Ana Berta, Heller, Raoul, Piccione, Maria, Corsello, Giovanni, Herman, Gail E., Tartaglia, Marco, Lin, Angela E.
Publicerad 2011

Targeting C4-demethylating genes in the cholesterol pathway sensitizes cancer cells to EGFR inhibitors via increased EGFR degradation

av Sukhanova, Anna, Gorin, Andrey, Serebriiskii, Ilya G., Gabitova, Linara, Zheng, Hui, Restifo, Diana, Egleston, Brian L., Cunningham, David, Bagnyukova, Tetyana, Liu, Hanqing, Nikonova, Anna, Adams, Gregory P., Zhou, Yan, Yang, Dong-Hua, Mehra, Ranee, Burtness, Barbara, Cai, Kathy Q., Klein-Szanto, Andres, Kratz, Lisa E., Kelley, Richard I., Weiner, Louis M., Herman, Gail E., Golemis, Erica A., Astsaturov, Igor
Publicerad 2012

Severe neurocognitive and growth disorders due to variation in THOC2, an essential component of nuclear mRNA export machinery

av Kumar, Raman, Gardner, Alison, Homan, Claire C, Douglas, Evelyn, Mefford, Heather, Wieczorek, Dagmar, Lüdecke, Hermann-Josef, Stark, Zornitza, Sadedin, Simon, Nowak, Catherine Bearce, Douglas, Jessica, Parsons, Gretchen, Mark, Paul, Loidi, Lourdes, Herman, Gail E, Mosher, Theresa Mihalic, Gillespie, Meredith K, Brady, Lauren, Tarnopolsky, Mark, Madrigal, Irene, Eiris, Jesús, Salgado, Laura Domènech, Rabionet, Raquel, Strom, Tim M, Ishihara, Naoko, Inagaki, Hidehito, Kurahashi, Hiroki, Dudding-Byth, Tracy, Palmer, Elizabeth E, Field, Michael, Gecz, Jozef
I publikationen Hum Mutat (2018)

Bedside Back to Bench: Building Bridges between Basic and Clinical Genomic Research

av Manolio, Teri A., Fowler, Douglas M., Starita, Lea M., Haendel, Melissa A., MacArthur, Daniel G., Biesecker, Leslie G., Worthey, Elizabeth, Chisholm, Rex L., Green, Eric D., Jacob, Howard J., McLeod, Howard L., Roden, Dan, Rodriguez, Laura Lyman, Williams, Marc S., Cooper, Gregory M., Cox, Nancy J., Herman, Gail E., Kingsmore, Stephen, Lo, Cecilia, Lutz, Cathleen, MacRae, Calum A., Nussbaum, Robert L., Ordovas, Jose M., Ramos, Erin M., Robinson, Peter N., Rubinstein, Wendy S., Seidman, Christine, Stranger, Barbara E., Wang, Haoyi, Westerfield, Monte, Bult, Carol
I publikationen Cell (2017)

Hypomorphic Temperature-Sensitive Alleles of NSDHL Cause CK Syndrome

av McLarren, Keith W., Severson, Tesa M., du Souich, Christèle, Stockton, David W., Kratz, Lisa E., Cunningham, David, Hendson, Glenda, Morin, Ryan D., Wu, Diane, Paul, Jessica E., An, Jianghong, Nelson, Tanya N., Chou, Athena, DeBarber, Andrea E., Merkens, Louise S., Michaud, Jacques L., Waters, Paula J., Yin, Jingyi, McGillivray, Barbara, Demos, Michelle, Rouleau, Guy A., Grzeschik, Karl-Heinz, Smith, Raffaella, Tarpey, Patrick S., Shears, Debbie, Schwartz, Charles E., Gecz, Jozef, Stratton, Michael R., Arbour, Laura, Hurlburt, Jane, Van Allen, Margot I., Herman, Gail E., Zhao, Yongjun, Moore, Richard, Kelley, Richard I., Jones, Steven J.M., Steiner, Robert D., Raymond, F. Lucy, Marra, Marco A., Boerkoel, Cornelius F.
Publicerad 2010