Jyotsna Sudi

Targeted loss of Arx results in a developmental epilepsy mouse model and recapitulates the human phenotype in heterozygous females (2009)

Marsh, Eric, Fulp, Carl, Gomez, Ernest, Nasrallah, Ilya, Minarcik, Jeremy, Sudi, Jyotsna, ...

Mutations in the X-linked aristaless-related homeobox gene (ARX) have been linked to structural brain anomalies as well as multiple neurocognitive deficits. The generation of Arx-deficient mice...

Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum (2008)

Najm, Juliane, Horn, Denise, Wimplinger, Isabella, Golden, Jeffrey A, Chizhikov, Victor V, Sudi, Jyotsna, ...

CASK is a multi-domain scaffolding protein that interacts with the transcription factor TBR1 and regulates expression of genes involved in cortical development such as RELN. Here we describe a...

Coincidence of P-Insertion Sites and Breakpoints of Deletions Induced by Activating P Elements in Drosophila

Sudi, Jyotsna, Zhang, Sen, Intrieri, Gino, Hao, Ximing, Zhang, Ping

We isolated a set of seven deletions in the 67B region by activating a nearby P-element insertion. The structures of the deletions were characterized by cloning and sequencing. The results showed...

Association and Mutation Analyses of 16p11.2 Autism Candidate Genes

Kumar, Ravinesh A., Marshall, Christian R., Badner, Judith A., Babatz, Timothy D., Mukamel, Zohar, Aldinger, Kimberly A., ...