Autism and fragile X syndrome.
Yu, Timothy, and Elizabeth Berry-Kravis. 2014. “Autism and Fragile X Syndrome.”. Semin Neurol 34 (3): 258-65.
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Whole-exome sequencing and homozygosity analysis implicate depolarization-regulated neuronal genes in autism.
Chahrour, Maria, Timothy Yu, Elaine Lim, Bulent Ataman, Michael Coulter, Sean Hill, Christine Stevens, et al. 2012. “Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism.”. PLoS Genet 8 (4): e1002635.
Common genetic variants, acting additively, are a major source of risk for autism.
Klei, Lambertus, Stephan Sanders, Michael Murtha, Vanessa Hus, Jennifer Lowe, Jeremy Willsey, Daniel Moreno-De-Luca, et al. 2012. “Common Genetic Variants, Acting Additively, Are a Major Source of Risk for Autism.”. Mol Autism 3 (1): 9.
Mutation of KCNJ8 in a patient with Cantú syndrome with unique vascular abnormalities - support for the role of K(ATP) channels in this condition.
Brownstein, Catherine, Meghan Towne, Lovelace Luquette, David Harris, Nicholas Marinakis, Peter Meinecke, Kerstin Kutsche, et al. 2013. “Mutation of KCNJ8 in a Patient With Cantú Syndrome With Unique Vascular Abnormalities - Support for the Role of K(ATP) Channels in This Condition.”. Eur J Med Genet 56 (12): 678-82.
Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination as an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.
Gupta, Vandana, Gianina Ravenscroft, Ranad Shaheen, Emily Todd, Lindsay Swanson, Masaaki Shiina, Kazuhiro Ogata, et al. 2013. “Identification of KLHL41 Mutations Implicates BTB-Kelch-Mediated Ubiquitination As an Alternate Pathway to Myofibrillar Disruption in Nemaline Myopathy.”. Am J Hum Genet 93 (6): 1108-17.
Katanin p80 regulates human cortical development by limiting centriole and cilia number.
Hu, Wen, Oz Pomp, Tawfeg Ben-Omran, Andrew Kodani, Katrin Henke, Ganeshwaran Mochida, Timothy Yu, et al. 2014. “Katanin P80 Regulates Human Cortical Development by Limiting Centriole and Cilia Number.”. Neuron 84 (6): 1240-57.
Dentate granule cell neurogenesis is increased by seizures and contributes to aberrant network reorganization in the adult rat hippocampus.
Parent, Yu, Leibowitz, Geschwind, Sloviter, and Lowenstein. 1997. “Dentate Granule Cell Neurogenesis Is Increased by Seizures and Contributes to Aberrant Network Reorganization in the Adult Rat Hippocampus.”. J Neurosci 17 (10): 3727-38.
Dynamic regulation of axon guidance.
Yu, and Bargmann. 2001. “Dynamic Regulation of Axon Guidance.”. Nat Neurosci 4 Suppl: 1169-76.
Shared receptors in axon guidance: SAX-3/Robo signals via UNC-34/Enabled and a Netrin-independent UNC-40/DCC function.
Yu, Timothy, Joe Hao, Wendell Lim, Marc Tessier-Lavigne, and Cornelia Bargmann. 2002. “Shared Receptors in Axon Guidance: SAX-3/Robo Signals via UNC-34/Enabled and a Netrin-Independent UNC-40/DCC Function.”. Nat Neurosci 5 (11): 1147-54.
The digital phenotype.
Jain, Sachin, Brian Powers, Jared Hawkins, and John Brownstein. 2015. “The Digital Phenotype.”. Nat Biotechnol 33 (5): 462-3.