Deletion of Topoisomerase 1 in excitatory neurons causes genomic instability and early onset neurodegeneration
Fragola, Giulia, Mabb, Angela M, Taylor-Blake, Bonnie, Niehaus, Jesse K, Chronister, William D, Mao, Hanqian, Simon, Jeremy M, Yuan, Hong, Li, Zibo, McConnell, Michael J, Zylka, Mark J
Published in Nature communications (23.04.2020)
Published in Nature communications (23.04.2020)
Get full text
Journal Article
Deficiency of Asparagine Synthetase Causes Congenital Microcephaly and a Progressive Form of Encephalopathy
Ruzzo, Elizabeth K., Capo-Chichi, José-Mario, Ben-Zeev, Bruria, Chitayat, David, Mao, Hanqian, Pappas, Andrea L., Hitomi, Yuki, Lu, Yi-Fan, Yao, Xiaodi, Hamdan, Fadi F., Pelak, Kimberly, Reznik-Wolf, Haike, Bar-Joseph, Ifat, Oz-Levi, Danit, Lev, Dorit, Lerman-Sagie, Tally, Leshinsky-Silver, Esther, Anikster, Yair, Ben-Asher, Edna, Olender, Tsviya, Colleaux, Laurence, Décarie, Jean-Claude, Blaser, Susan, Banwell, Brenda, Joshi, Rasesh B., He, Xiao-Ping, Patry, Lysanne, Silver, Rachel J., Dobrzeniecka, Sylvia, Islam, Mohammad S., Hasnat, Abul, Samuels, Mark E., Aryal, Dipendra K., Rodriguiz, Ramona M., Jiang, Yong-hui, Wetsel, William C., McNamara, James O., Rouleau, Guy A., Silver, Debra L., Lancet, Doron, Pras, Elon, Mitchell, Grant A., Michaud, Jacques L., Goldstein, David B.
Published in Neuron (Cambridge, Mass.) (16.10.2013)
Published in Neuron (Cambridge, Mass.) (16.10.2013)
Get full text
Journal Article
Autism-linked UBE3A gain-of-function mutation causes interneuron and behavioral phenotypes when inherited maternally or paternally in mice
Xing, Lei, Simon, Jeremy M., Ptacek, Travis S., Yi, Jason J., Loo, Lipin, Mao, Hanqian, Wolter, Justin M., McCoy, Eric S., Paranjape, Smita R., Taylor-Blake, Bonnie, Zylka, Mark J.
Published in Cell reports (Cambridge) (25.07.2023)
Published in Cell reports (Cambridge) (25.07.2023)
Get full text
Journal Article
Copine A Interacts with Actin Filaments and Plays a Role in Chemotaxis and Adhesion
Buccilli, Matthew J, Ilacqua, April N, Han, Mingxi, Banas, Andrew A, Wight, Elise M, Mao, Hanqian, Perry, Samantha P, Salter, Tasha S, Loiselle, David R, Haystead, Timothy A J, Damer, Cynthia K
Published in Cells (Basel, Switzerland) (21.07.2019)
Published in Cells (Basel, Switzerland) (21.07.2019)
Get full text
Journal Article
Cas9 gene therapy for Angelman syndrome traps Ube3a-ATS long non-coding RNA
Wolter, Justin M, Mao, Hanqian, Fragola, Giulia, Simon, Jeremy M, Krantz, James L, Bazick, Hannah O, Oztemiz, Baris, Stein, Jason L, Zylka, Mark J
Published in Nature (London) (12.11.2020)
Published in Nature (London) (12.11.2020)
Get full text
Journal Article
Rbm8a haploinsufficiency disrupts embryonic cortical development resulting in microcephaly
Mao, Hanqian, Pilaz, Louis-Jan, McMahon, John J, Golzio, Christelle, Wu, Danwei, Shi, Lei, Katsanis, Nicholas, Silver, Debra L
Published in The Journal of neuroscience (06.05.2015)
Published in The Journal of neuroscience (06.05.2015)
Get full text
Journal Article
METHODS AND COMPOSITIONS FOR TREATING ANGELMAN SYNDROME
MAO, Hanqian, WOLTER, Justin Matthew, SIMON, Jeremy Mark, ZYLKA, Mark John, FRAGOLA, Giulia
Year of Publication 01.12.2021
Get full text
Year of Publication 01.12.2021
Patent
METHODS AND COMPOSITIONS FOR TREATING ANGELMAN SYNDROME
MAO, Hanqian, WOLTER, Justin Matthew, SIMON, Jeremy Mark, ZYLKA, Mark John, FRAGOLA, Giulia
Year of Publication 06.01.2021
Get full text
Year of Publication 06.01.2021
Patent