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

Por Duyzend, Michael H., Eichler, Evan E.
Publicado no Biol Psychiatry (2015)

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

Por Siggers, Trevor, Duyzend, Michael H, Reddy, Jessica, Khan, Sidra, Bulyk, Martha L
Publicado em 2011

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

Por Duyzend, Michael H., Nuttle, Xander, Coe, Bradley P., Baker, Carl, Nickerson, Deborah A., Bernier, Raphael, Eichler, Evan E.
Publicado no Am J Hum Genet (2016)

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

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

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

Por 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.
Publicado no Clin Case Rep (2017)

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

Por 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.
Publicado no Genome Biol (2017)

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

Por 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.
Publicado no Genet Med (2018)

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

Por 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.
Publicado no Am J Hum Genet (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 no Nature (2016)