Now showing items 1-14 of 14

    • Building a Bigger Brain: Centriole Control of Cerebral Cortical Development 

      Hu, Wen Fan (2014-10-21)
      Human genetics has identified essential roles for many centriole- and cilia-related proteins during human development. Mutations in centrosome-associated genes commonly cause microcephaly, or "small brain," and mutations ...
    • CC2D1A Regulates Human Intellectual and Social Function as well as NF-κB Signaling Homeostasis 

      Manzini, M. Chiara; Xiong, Lan; Shaheen, Ranad; Tambunan, Dimira E.; Di Costanzo, Stefania; Mitisalis, Vanessa; Tischfield, David J.; Cinquino, Antonella; Ghaziuddin, Mohammed; Christian, Mehtab; Jiang, Qin; Laurent, Sandra; Nanjiani, Zohair A.; Rasheed, Saima; Hill, R. Sean; Lizarraga, Sofia B.; Gleason, Danielle; Sabbagh, Diya; Salih, Mustafa A.; Alkuraya, Fowzan S.; Walsh, Christopher A. (2015)
      SUMMARY Autism spectrum disorder (ASD) and intellectual disability (ID) are often comorbid, but the extent to which they share common genetic causes remains controversial. Here, we present two autosomal-recessive “founder” ...
    • CHMP1A encodes an essential regulator of BMI1-INK4A in cerebellar development 

      Mochida, Ganeshwaran H.; Ganesh, Vijay S; de Michelena, Maria I.; Dias, Hugo; Atabay, Kutay D.; Kathrein, Katie L.; Huang, Emily; Hill, Robert Sean; Felie, Jillian M.; Rakiec, Daniel; Gleason, Danielle; Hill, Anthony D.; Malik, Athar Naveed; Barry, Brenda J.; Partlow, Jennifer; Tan, Wen-Hann; Glader, Laurie Jean; Barkovich, A. James; Dobyns, William B.; Zon, Leonard Ira; Walsh, Christopher A (2013)
    • Common Genetic Variants, Acting Additively, Are a Major Source of Risk for Autism 

      Klei, Lambertus; Sanders, Stephan J; Murtha, Michael T; Hus, Vanessa; Lowe, Jennifer K; Willsey, A Jeremy; Moreno-De-Luca, Daniel; Yu, Timothy W; Fombonne, Eric; Geschwind, Daniel; Grice, Dorothy E; Ledbetter, David H; Lord, Catherine; Mane, Shrikant M; Martin, Christa Lese; Martin, Donna M; Melhem, Nadine M; Chaste, Pauline; Sutcliffe, James S; State, Matthew W; Cook, Edwin H; Roeder, Kathryn; Devlin, Bernie; Morrow, Eric M.; Walsh, Christopher A (BioMed Central, 2012)
      Background: Autism spectrum disorders (ASD) are early onset neurodevelopmental syndromes typified by impairments in reciprocal social interaction and communication, accompanied by restricted and repetitive behaviors. While ...
    • Genetic Changes Shaping the Human Brain 

      Bae, Byoung-il; Jayaraman, Divya; Walsh, Christopher A. (2015)
      Summary The development and function of our brain are governed by a genetic blueprint, which reflects dynamic changes over the history of evolution. Recent progress in genetics and genomics, facilitated by next-generation ...
    • Identification and Characterization of Genes Essential for Human Brain Development 

      Ganesh, Vijay S. (2012-10-18)
      The human brain is a network of ninety billion neurons that allows for many of the behavioral adaptations considered unique to our species. One-fifth of these neurons are layered in an epithelial sheet known as the cerebral ...
    • Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair 

      Reynolds, John J.; Walker, Alexandra K.; Gilmore, Edward C.; Walsh, Christopher A.; Caldecott, Keith W. (Oxford University Press, 2012)
      Microcephaly with early-onset, intractable seizures and developmental delay (MCSZ) is a hereditary disease caused by mutations in polynucleotide kinase/phosphatase (PNKP), a DNA strand break repair protein with DNA 5′-kinase ...
    • Resolving rates of mutation in the brain using single-neuron genomics 

      Evrony, Gilad D; Lee, Eunjung; Park, Peter J; Walsh, Christopher A (eLife Sciences Publications, Ltd, 2016)
      Whether somatic mutations contribute functional diversity to brain cells is a long-standing question. Single-neuron genomics enables direct measurement of somatic mutation rates in human brain and promises to answer this ...
    • Single-cell Sequencing Studies of Somatic Mutation in the Human Brain 

      Evrony, Gilad David (2013-10-08)
      A major unanswered question in neuroscience is whether there exists genomic variability between individual neurons of the brain, contributing to functional diversity or to an unexplained burden of neurologic disease. To ...
    • Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain 

      Cai, Xuyu; Evrony, Gilad D.; Lehmann, Hillel S.; Elhosary, Princess C.; Mehta, Bhaven K.; Poduri, Annapurna; Walsh, Christopher A. (2014)
      SUMMARY De novo copy-number variants (CNVs) can cause neuropsychiatric disease, but the degree to which they occur somatically, and during development, is unknown. Single-cell whole-genome sequencing (WGS) in >200 single ...
    • Single-Neuron Sequencing to Explore Somatic Genetic Variants in Normal and Pathological Human Brain Development 

      Cai, Xuyu (2013-09-30)
      The human brain is one of the most exquisite structures in nature, featuring extreme functional complexity and capacities that allow for advanced cognitive abilities. During the development of the human brain, neural ...
    • Synaptic, transcriptional, and chromatin genes disrupted in autism 

      De Rubeis, Silvia; He, Xin; Goldberg, Arthur P.; Poultney, Christopher S.; Samocha, Kaitlin; Cicek, A Ercument; Kou, Yan; Liu, Li; Fromer, Menachem; Walker, Susan; Singh, Tarjinder; Klei, Lambertus; Kosmicki, Jack; Fu, Shih-Chen; Aleksic, Branko; Biscaldi, Monica; Bolton, Patrick F.; Brownfeld, Jessica M.; Cai, Jinlu; Campbell, Nicholas J.; Carracedo, Angel; Chahrour, Maria H.; Chiocchetti, Andreas G.; Coon, Hilary; Crawford, Emily L.; Crooks, Lucy; Curran, Sarah R.; Dawson, Geraldine; Duketis, Eftichia; Fernandez, Bridget A.; Gallagher, Louise; Geller, Evan; Guter, Stephen J.; Hill, R. Sean; Ionita-Laza, Iuliana; Gonzalez, Patricia Jimenez; Kilpinen, Helena; Klauck, Sabine M.; Kolevzon, Alexander; Lee, Irene; Lei, Jing; Lehtimäki, Terho; Lin, Chiao-Feng; Ma'ayan, Avi; Marshall, Christian R.; McInnes, Alison L.; Neale, Benjamin; Owen, Michael J.; Ozaki, Norio; Parellada, Mara; Parr, Jeremy R.; Purcell, Shaun; Puura, Kaija; Rajagopalan, Deepthi; Rehnström, Karola; Reichenberg, Abraham; Sabo, Aniko; Sachse, Michael; Sanders, Stephan J.; Schafer, Chad; Schulte-Rüther, Martin; Skuse, David; Stevens, Christine; Szatmari, Peter; Tammimies, Kristiina; Valladares, Otto; Voran, Annette; Wang, Li-San; Weiss, Lauren A.; Willsey, A. Jeremy; Yu, Timothy W.; Yuen, Ryan K.C.; Cook, Edwin H.; Freitag, Christine M.; Gill, Michael; Hultman, Christina M.; Lehner, Thomas; Palotie, Aarno; Schellenberg, Gerard D.; Sklar, Pamela; State, Matthew W.; Sutcliffe, James S.; Walsh, Christopher A.; Scherer, Stephen W.; Zwick, Michael E.; Barrett, Jeffrey C.; Cutler, David J.; Roeder, Kathryn; Devlin, Bernie; Daly, Mark J.; Buxbaum, Joseph D. (2014)
      Summary The genetic architecture of autism spectrum disorder involves the interplay of common and rare variation and their impact on hundreds of genes. Using exome sequencing, analysis of rare coding variation in 3,871 ...
    • Whole-Exome Sequencing and Homozygosity Analysis Implicate Depolarization-Regulated Neuronal Genes in Autism 

      Yu, Timothy W.; Lim, Elaine T.; Stevens, Christine R.; Gabriel, Stacey B.; Chahrour, Maria H.; Ataman, Bulent; Coulter, Michael Edward; Hill, Robert Sean; Schubert, Christian R.; Greenberg, Michael Eldon; Walsh, Christopher A. (Public Library of Science, 2012)
      Although autism has a clear genetic component, the high genetic heterogeneity of the disorder has been a challenge for the identification of causative genes. We used homozygosity analysis to identify probands from ...
    • ZNF335: A Novel Regulator of Stem Cell Proliferation and Cell Fate in the Cerebral Cortex 

      Yang, Yawei (2013-03-18)
      Though development of the cerebral cortex is of singular importance to human cognition, it remains very poorly understood. Microcephaly, or "small head," is a neurodevelopmental disorder causing significantly reduced ...