Rai1 Haploinsufficiency Is Associated with Social Abnormalities in Mice

por Rao, Nalini R., Abad, Clemer, Perez, Irene C., Srivastava, Anand K., Young, Juan I., Walz, Katherina
Publicado 2017

Disruption of Mbd5 in mice causes neuronal functional deficits and neurobehavioral abnormalities consistent with 2q23.1 microdeletion syndrome

por Camarena, Vladimir, Cao, Lei, Abad, Clemer, Abrams, Alexander, Toledo, Yaima, Araki, Kimi, Araki, Masatake, Walz, Katherina, Young, Juan I
Publicado 2014

Bromodomain Protein BRD4 Is Essential for Hair Cell Function and Survival

por Kannan-Sundhari, Abhiraami, Abad, Clemer, Maloof, Marie E., Ayad, Nagi G., Young, Juan I., Liu, Xue Zhong, Walz, Katherina
Publicado 2020

A Rare De Novo RAI1 Gene Mutation Affecting BDNF-Enhancer-Driven Transcription Activity Associated with Autism and Atypical Smith-Magenis Syndrome Presentation

por Abad, Clemer, Cook, Melissa M., Cao, Lei, Jones, Julie R., Rao, Nalini R., Dukes-Rimsky, Lynn, Pauly, Rini, Skinner, Cindy, Wang, Yunsheng, Luo, Feng, Stevenson, Roger E., Walz, Katherina, Srivastava, Anand K.
Publicado 2018

Transcriptional consequences of MBD5 disruption in mouse brain and CRISPR-derived neurons

por Seabra, Catarina M., Aneichyk, Tatsiana, Erdin, Serkan, Tai, Derek J. C., De Esch, Celine E. F., Razaz, Parisa, An, Yu, Manavalan, Poornima, Ragavendran, Ashok, Stortchevoi, Alexei, Abad, Clemer, Young, Juan I., Maciel, Patricia, Talkowski, Michael E., Gusella, James F.
Publicado 2020

Mutations in MINAR2 encoding membrane integral NOTCH2-associated receptor 2 cause deafness in humans and mice

por Bademci, Guney, Lachgar-Ruiz, María, Deokar, Mangesh, Zafeer, Mohammad Faraz, Abad, Clemer, Yildirim Baylan, Muzeyyen, Ingham, Neil J., Chen, Jing, Sineni, Claire J., Vadgama, Nirmal, Karakikes, Ioannis, Guo, Shengru, Duman, Duygu, Singh, Nitu, Harlalka, Gaurav, Jain, Shirish P., Chioza, Barry A., Walz, Katherina, Steel, Karen P., Nasir, Jamal, Tekin, Mustafa
Publicado 2022