Histone 4 Lysine 20 Methylation: A Case for Neurodevelopmental Disease

por Wickramasekara, Rochelle N., Stessman, Holly A. F.
Publicado 2019

Molecular subtyping and improved treatment of neurodevelopmental disease

por Stessman, Holly A. F., Turner, Tychele N., Eichler, Evan E.
Publicado 2016

Complete Sequence of the Closed Circular Extrachromosomal Element of Naegleria jadini Willaert and Ray (Strain ITMAP400)

por Nguyen, Brian T., Chapman, Nora M., Stessman, Holly A. F., Tracy, Steven, Drescher, Kristen M.
Publicado 2023

Complete sequence of the closed circular extrachromosomal element (CERE) of Naegleria australiensis De Jonckheere (strain PP 397)

por Nguyen, Brian T., Chapman, Nora M., Johnson, Niklas, Stessman, Holly A. F., Tracy, Steven, Drescher, Kristen M.
Publicado 2023

Bortezomib Resistance Can Be Reversed by Induced Expression of Plasma Cell Maturation Markers in a Mouse In Vitro Model of Multiple Myeloma

por Stessman, Holly A. F., Mansoor, Aatif, Zhan, Fenghuang, Linden, Michael A., Van Ness, Brian, Baughn, Linda B.
Publicado 2013

Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism

por Luhrs, Kyleen, Ward, Tracey, Hudac, Caitlin M., Gerdts, Jennifer, Stessman, Holly A. F., Eichler, Evan E., Bernier, Raphael A.
Publicado 2017

Fine-Mapping of 18q21.1 Locus Identifies Single Nucleotide Polymorphisms Associated with Nonsyndromic Cleft Lip with or without Cleft Palate

por Mitra, Amit K., Stessman, Holly A. F., Schaefer, Robert J., Wang, Wen, Myers, Chad L., Van Ness, Brian G., Beiraghi, Soraya
Publicado 2016

Epidemiologic and Genomic Analysis of the Severe Acute Respiratory Syndrome Coronavirus 2 Epidemic in the Nebraska Region of the United States, March 2020–2021

por Siedlik, Jacob A., Watson, Cynthia J., Raine, Morgan A., Cheng, Anne V., Goering, Richard V., Stessman, Holly A. F., Belshan, Michael
Publicado 2022

KMT5B is required for early motor development

por Hulen, Jason, Kenny, Dorothy, Black, Rebecca, Hallgren, Jodi, Hammond, Kelley G., Bredahl, Eric C., Wickramasekara, Rochelle N., Abel, Peter W., Stessman, Holly A. F.
Publicado 2022

Exploring the heterogeneity of neural social indices for genetically distinct etiologies of autism

por Hudac, Caitlin M., Stessman, Holly A. F., DesChamps, Trent D., Kresse, Anna, Faja, Susan, Neuhaus, Emily, Webb, Sara Jane, Eichler, Evan E., Bernier, Raphael A.
Publicado 2017

denovo-db: a compendium of human de novo variants

por Turner, Tychele N., Yi, Qian, Krumm, Niklas, Huddleston, John, Hoekzema, Kendra, F. Stessman, Holly A., Doebley, Anna-Lisa, Bernier, Raphael A., Nickerson, Deborah A., Eichler, Evan E.
Publicado 2017

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity

por Coe, Bradley P., Stessman, Holly A.F., Sulovari, Arvis, Geisheker, Madeleine R., Bakken, Trygve E., Lake, Allison M., Dougherty, Joseph D., Lein, Ed S., Hormozdiari, Fereydoun, Bernier, Raphael A., Eichler, Evan E.
Publicado 2018

Excess of rare, inherited truncating mutations in autism

por Krumm, Niklas, Turner, Tychele N., Baker, Carl, Vives, Laura, Mohajeri, Kiana, Witherspoon, Kali, Raja, Archana, Coe, Bradley P., Stessman, Holly A., He, Zong-Xiao, Leal, Suzanne M., Bernier, Raphael, Eichler, Evan E.
Publicado 2015

The evolution and population diversity of human-specific segmental duplications

por Dennis, Megan Y., Harshman, Lana, Nelson, Bradley J., Penn, Osnat, Cantsilieris, Stuart, Huddleston, John, Antonacci, Francesca, Penewit, Kelsi, Denman, Laura, Raja, Archana, Baker, Carl, Mark, Kenneth, Malig, Maika, Janke, Nicolette, Espinoza, Claudia, Stessman, Holly A.F., Nuttle, Xander, Hoekzema, Kendra, Lindsay-Graves, Tina A., Wilson, Richard K., Eichler, Evan E.
Publicado 2017

De novo genic mutations among a Chinese autism spectrum disorder cohort

por Wang, Tianyun, Guo, Hui, Xiong, Bo, Stessman, Holly A.F., Wu, Huidan, Coe, Bradley P., Turner, Tychele N., Liu, Yanling, Zhao, Wenjing, Hoekzema, Kendra, Vives, Laura, Xia, Lu, Tang, Meina, Ou, Jianjun, Chen, Biyuan, Shen, Yidong, Xun, Guanglei, Long, Min, Lin, Janice, Kronenberg, Zev N., Peng, Yu, Bai, Ting, Li, Honghui, Ke, Xiaoyan, Hu, Zhengmao, Zhao, Jingping, Zou, Xiaobing, Xia, Kun, Eichler, Evan E.
Publicado 2016

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility

por Nuttle, Xander, Giannuzzi, Giuliana, Duyzend, Michael H., Schraiber, Joshua G., Narvaiza, Iñigo, Sudmant, Peter H., Penn, Osnat, Chiatante, Giorgia, Malig, Maika, Huddleston, John, Benner, Chris, Camponeschi, Francesca, Ciofi-Baffoni, Simone, Stessman, Holly A.F., Marchetto, Maria C. N., Denman, Laura, Harshman, Lana, Baker, Carl, Raja, Archana, Penewit, Kelsi, Janke, Nicolette, Tang, W. Joyce, Ventura, Mario, Banci, Lucia, Antonacci, Francesca, Akey, Joshua M., Amemiya, Chris T., Gage, Fred H., Reymond, Alexandre, Eichler, Evan E.
Publicado 2016

Hotspots of missense mutation identify novel neurodevelopmental disorder genes and functional domains

por Geisheker, Madeleine R., Heymann, Gabriel, Wang, Tianyun, Coe, Bradley P., Turner, Tychele N., Stessman, Holly A.F., Hoekzema, Kendra, Kvarnung, Malin, Shaw, Marie, Friend, Kathryn, Liebelt, Jan, Barnett, Christopher, Thompson, Elizabeth M., Haan, Eric, Guo, Hui, Anderlid, Britt-Marie, Nordgren, Ann, Lindstrand, Anna, Vandeweyer, Geert, Alberti, Antonino, Avola, Emanuela, Vinci, Mirella, Giusto, Stefania, Pramparo, Tiziano, Pierce, Karen, Nalabolu, Srinivasa, Michaelson, Jacob J., Sedlacek, Zdenek, Santen, Gijs W.E., Peeters, Hilde, Hakonarson, Hakon, Courchesne, Eric, Romano, Corrado, Kooy, R. Frank, Bernier, Raphael A., Nordenskjöld, Magnus, Gecz, Jozef, Xia, Kun, Zweifel, Larry S., Eichler, Evan E.
Publicado 2017

Targeted sequencing identifies 91 neurodevelopmental disorder risk genes with autism and developmental disability biases

por Stessman, Holly A. F., Xiong, Bo, Coe, Bradley P., Wang, Tianyun, Hoekzema, Kendra, Fenckova, Michaela, Kvarnung, Malin, Gerdts, Jennifer, Trinh, Sandy, Cosemans, Nele, Vives, Laura, Lin, Janice, Turner, Tychele N., Santen, Gijs, Ruivenkamp, Claudia, Kriek, Marjolein, van Haeringen, Arie, Aten, Emmelien, Friend, Kathryn, Liebelt, Jan, Barnett, Christopher, Haan, Eric, Shaw, Marie, Gecz, Jozef, Anderlid, Britt-Marie, Nordgren, Ann, Lindstrand, Anna, Schwartz, Charles, Kooy, R. Frank, Vandeweyer, Geert, Helsmoortel, Celine, Romano, Corrado, Alberti, Antonino, Vinci, Mirella, Avola, Emanuela, Giusto, Stefania, Courchesne, Eric, Pramparo, Tiziano, Pierce, Karen, Nalabolu, Srinivasa, Amaral, David, Scheffer, Ingrid E., Delatycki, Martin B., Lockhart, Paul J., Hormozdiari, Fereydoun, Harich, Benjamin, Castells-Nobau, Anna, Xia, Kun, Peeters, Hilde, Nordenskjöld, Magnus, Schenck, Annette, Bernier, Raphael A., Eichler, Evan E.
Publicado 2017

Mechanism of KMT5B haploinsufficiency in neurodevelopment in humans and mice

por Sheppard, Sarah E., Bryant, Laura, Wickramasekara, Rochelle N., Vaccaro, Courtney, Robertson, Brynn, Hallgren, Jodi, Hulen, Jason, Watson, Cynthia J., Faundes, Victor, Duffourd, Yannis, Lee, Pearl, Simon, M. Celeste, de la Cruz, Xavier, Padilla, Natália, Flores-Mendez, Marco, Akizu, Naiara, Smiler, Jacqueline, Pellegrino Da Silva, Renata, Li, Dong, March, Michael, Diaz-Rosado, Abdias, Peixoto de Barcelos, Isabella, Choa, Zhao Xiang, Lim, Chin Yan, Dubourg, Christèle, Journel, Hubert, Demurger, Florence, Mulhern, Maureen, Akman, Cigdem, Lippa, Natalie, Andrews, Marisa, Baldridge, Dustin, Constantino, John, van Haeringen, Arie, Snoeck-Streef, Irina, Chow, Penny, Hing, Anne, Graham, John M., Au, Margaret, Faivre, Laurence, Shen, Wei, Mao, Rong, Palumbos, Janice, Viskochil, David, Gahl, William, Tifft, Cynthia, Macnamara, Ellen, Hauser, Natalie, Miller, Rebecca, Maffeo, Jessica, Afenjar, Alexandra, Doummar, Diane, Keren, Boris, Arn, Pamela, Macklin-Mantia, Sarah, Meerschaut, Ilse, Callewaert, Bert, Reis, André, Zweier, Christiane, Brewer, Carole, Saggar, Anand, Smeland, Marie F., Kumar, Ajith, Elmslie, Frances, Deshpande, Charu, Nizon, Mathilde, Cogne, Benjamin, van Ierland, Yvette, Wilke, Martina, van Slegtenhorst, Marjon, Koudijs, Suzanne, Chen, Jin Yun, Dredge, David, Pier, Danielle, Wortmann, Saskia, Kamsteeg, Erik-Jan, Koch, Johannes, Haynes, Devon, Pollack, Lynda, Titheradge, Hannah, Ranguin, Kara, Denommé-Pichon, Anne-Sophie, Weber, Sacha, Pérez de la Fuente, Rubén, Sánchez del Pozo, Jaime, Lezana Rosales, Jose Miguel, Joset, Pascal, Steindl, Katharina, Rauch, Anita, Mei, Davide, Mari, Francesco, Guerrini, Renzo, Lespinasse, James, Tran Mau-Them, Frédéric, Philippe, Christophe, Dauriat, Benjamin, Raymond, Laure, Moutton, Sébastien, Cueto-González, Anna M., Tan, Tiong Yang, Mignot, Cyril, Grotto, Sarah, Renaldo, Florence, Drivas, Theodore G., Hennessy, Laura, Raper, Anna, Parenti, Ilaria, Kaiser, Frank J., Kuechler, Alma, Busk, Øyvind L., Islam, Lily, Siedlik, Jacob A., Henderson, Lindsay B., Juusola, Jane, Person, Richard, Schnur, Rhonda E., Vitobello, Antonio, Banka, Siddharth, Bhoj, Elizabeth J., Stessman, Holly A. F.
Publicado 2023