Genotype-first analysis of the 16p11.2 deletion defines a new type of “autism”

Autor Duyzend, Michael H., Eichler, Evan E.
Vydáno v Biol Psychiatry (2015)

Non-DNA-binding cofactors enhance DNA-binding specificity of a transcriptional regulatory complex

Autor Siggers, Trevor, Duyzend, Michael H, Reddy, Jessica, Khan, Sidra, Bulyk, Martha L
Vydáno 2011

Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV

Autor Duyzend, Michael H., Nuttle, Xander, Coe, Bradley P., Baker, Carl, Nickerson, Deborah A., Bernier, Raphael, Eichler, Evan E.
Vydáno v Am J Hum Genet (2016)

A Higher Mutational Burden in Females Supports a “Female Protective Model” in Neurodevelopmental Disorders

Autor Jacquemont, Sébastien, Coe, Bradley P., Hersch, Micha, Duyzend, Michael H., Krumm, Niklas, Bergmann, Sven, Beckmann, Jacques S., Rosenfeld, Jill A., Eichler, Evan E.
Vydáno 2014

Longitudinal report of child with de novo 16p11.2 triplication

Autor Wallace, Arianne S., Hudac, Caitlin M., Steinman, Kyle J., Peterson, Jessica L., DesChamps, Trent D., Duyzend, Michael H., Nuttle, Xander, Eichler, Evan E., Bernier, Raphael A.
Vydáno v Clin Case Rep (2017)

The birth of a human-specific neural gene by incomplete duplication and gene fusion

Autor Dougherty, Max L., Nuttle, Xander, Penn, Osnat, Nelson, Bradley J., Huddleston, John, Baker, Carl, Harshman, Lana, Duyzend, Michael H., Ventura, Mario, Antonacci, Francesca, Sandstrom, Richard, Dennis, Megan Y., Eichler, Evan E.
Vydáno v Genome Biol (2017)

Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes

Autor Guo, Hui, Duyzend, Michael H., Coe, Bradley P., Baker, Carl, Hoekzema, Kendra, Gerdts, Jennifer, Turner, Tychele N., Zody, Michael C., Beighley, Jennifer S., Murali, Shwetha C., Nelson, Bradley J., Bamshad, Michael J., Nickerson, Deborah A., Bernier, Raphael A., Eichler, Evan E.
Vydáno v Genet Med (2018)

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

Autor 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.
Vydáno v Am J Hum Genet (2016)

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

Autor 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.
Vydáno v Nature (2016)