Histone 4 Lysine 20 Methylation: A Case for Neurodevelopmental Disease

Bằng Wickramasekara, Rochelle N., Stessman, Holly A. F.
Xuất bản năm Biology (Basel) (2019)

A Genotype-First Approach to Defining the Subtypes of a Complex Disease

Bằng Stessman, Holly A., Bernier, Raphael, Eichler, Evan E.
Được phát hành 2014

Molecular subtyping and improved treatment of neurodevelopmental disease

Bằng Stessman, Holly A. F., Turner, Tychele N., Eichler, Evan E.
Xuất bản năm Genome Med (2016)

Targeted Capture and High-Throughput Sequencing Using Molecular Inversion Probes (MIPs)

Bằng Cantsilieris, Stuart, Stessman, Holly A., Shendure, Jay, Eichler, Evan E.
Xuất bản năm Methods Mol Biol (2017)

Differential effects by sex with Kmt5b loss.

Bằng Wickramasekara, Rochelle N., Robertson, Brynn, Hulen, Jason, Hallgren, Jodi, Stessman, Holly A. F.
Xuất bản năm Autism Res (2021)

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

Bằng Stessman, Holly A. F., Mansoor, Aatif, Zhan, Fenghuang, Linden, Michael A., Van Ness, Brian, Baughn, Linda B.
Được phát hành 2013

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

Bằng Luhrs, Kyleen, Ward, Tracey, Hudac, Caitlin M., Gerdts, Jennifer, Stessman, Holly A. F., Eichler, Evan E., Bernier, Raphael A.
Xuất bản năm Autism Res Treat (2017)

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

Bằng Mitra, Amit K., Stessman, Holly A. F., Schaefer, Robert J., Wang, Wen, Myers, Chad L., Van Ness, Brian G., Beiraghi, Soraya
Xuất bản năm Front Genet (2016)

ATF3 coordinates anti-tumor synergy between epigenetic drugs and protein disulfide isomerase inhibitors

Bằng Duncan, Ravyn M., Reyes, Leticia, Moats, Katelyn, Robinson, Reeder M., Murphy, Sara A., Kaur, Balveen, Stessman, Holly A. F., Dolloff, Nathan G.
Xuất bản năm Cancer Res (2020)

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

Bằng 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.
Xuất bản năm J Neurodev Disord (2017)

denovo-db: a compendium of human de novo variants

Bằng 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.
Xuất bản năm Nucleic Acids Res (2017)

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

Bằng 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.
Xuất bản năm Nat Genet (2018)

Excess of rare, inherited truncating mutations in autism

Bằng 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.
Xuất bản năm Nat Genet (2015)

Profiling Bortezomib Resistance Identifies Secondary Therapies in a Mouse Myeloma Model

Bằng Stessman, Holly A.F., Baughn, Linda B., Sarver, Aaron, Xia, Tian, Deshpande, Raamesh, Mansoor, Aatif, Walsh, Susan A., Sunderland, John J., Dolloff, Nathan G., Linden, Michael A., Zhan, Fenghuang, Janz, Siegfried, Myers, Chad L., Van Ness, Brian G.
Được phát hành 2013

The evolution and population diversity of human-specific segmental duplications

Bằng 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.
Xuất bản năm Nat Ecol Evol (2017)

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA

Bằng Turner, Tychele N., Hormozdiari, Fereydoun, Duyzend, Michael H., McClymont, Sarah A., Hook, Paul W., Iossifov, Ivan, Raja, Archana, Baker, Carl, Hoekzema, Kendra, Stessman, Holly A., Zody, Michael C., Nelson, Bradley J., Huddleston, John, Sandstrom, Richard, Smith, Joshua D., Hanna, David, Swanson, James M., Faustman, Elaine M., Bamshad, Michael J., Stamatoyannopoulos, John, Nickerson, Deborah A., McCallion, Andrew S., Darnell, Robert, Eichler, Evan E.
Xuất bản năm Am J Hum Genet (2016)

De novo genic mutations among a Chinese autism spectrum disorder cohort

Bằng 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.
Xuất bản năm Nat Commun (2016)

ADCY5-related dyskinesia: Broader spectrum and genotype–phenotype correlations

Bằng Chen, Dong-Hui, Méneret, Aurélie, Friedman, Jennifer R., Korvatska, Olena, Gad, Alona, Bonkowski, Emily S., Stessman, Holly A., Doummar, Diane, Mignot, Cyril, Anheim, Mathieu, Bernes, Saunder, Davis, Marie Y., Damon-Perrière, Nathalie, Degos, Bertrand, Grabli, David, Gras, Domitille, Hisama, Fuki M., Mackenzie, Katherine M., Swanson, Phillip D., Tranchant, Christine, Vidailhet, Marie, Winesett, Steven, Trouillard, Oriane, Amendola, Laura M., Dorschner, Michael O., Weiss, Michael, Eichler, Evan E., Torkamani, Ali, Roze, Emmanuel, Bird, Thomas D., Raskind, Wendy H.
Xuất bản năm Neurology (2015)

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

Bằng 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.
Xuất bản năm Nature (2016)

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

Bằng 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.
Xuất bản năm Nat Neurosci (2017)