Application of single cell genomics to focal epilepsies: A call to action

por Khoshkhoo, Sattar, Lal, Dennis, Walsh, Christopher A.
Publicado 2021

Genetic Changes Shaping the Human Brain

por Bae, Byoung-il, Jayaraman, Divya, Walsh, Christopher A.
Publicado 2015

Brain Somatic Mutation in Aging and Alzheimer’s Disease

por Miller, Michael B., Reed, Hannah C., Walsh, Christopher A.
Publicado 2021

Resolving rates of mutation in the brain using single-neuron genomics

por Evrony, Gilad D, Lee, Eunjung, Park, Peter J, Walsh, Christopher A
Publicado 2016

Lis1–Nde1-dependent neuronal fate control determines cerebral cortical size and lamination

por Pawlisz, Ashley S., Mutch, Christopher, Wynshaw-Boris, Anthony, Chenn, Anjen, Walsh, Christopher A., Feng, Yuanyi
Publicado 2008

SFI1 promotes centriole duplication by recruiting USP9X to stabilize the microcephaly protein STIL

por Kodani, Andrew, Moyer, Tyler, Chen, Allen, Holland, Andrew, Walsh, Christopher A., Reiter, Jeremy F.
Publicado 2019

Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair

por Reynolds, John J., Walker, Alexandra K., Gilmore, Edward C., Walsh, Christopher A., Caldecott, Keith W.
Publicado 2012

Expanding the Spectrum of Rearrangements Involving Chromosome 19: A Mild Phenotype Associated with a 19p13.12–p13.13 Deletion

por Marangi, Giuseppe, Orteschi, Daniela, Vigevano, Federico, Felie, Jillian, Walsh, Christopher A, Manzini, M Chiara, Neri, Giovanni
Publicado 2012

Identification of Neural Outgrowth Genes using Genome-Wide RNAi

por Sepp, Katharine J., Hong, Pengyu, Lizarraga, Sofia B., Liu, Judy S., Mejia, Luis A., Walsh, Christopher A., Perrimon, Norbert
Publicado 2008

Single-Cell, Genome-wide Sequencing Identifies Clonal Somatic Copy-Number Variation in the Human Brain

por Cai, Xuyu, Evrony, Gilad D., Lehmann, Hillel S., Elhosary, Princess C., Mehta, Bhaven K., Poduri, Annapurna, Walsh, Christopher A.
Publicado 2014

Detecting natural selection by empirical comparison to random regions of the genome

por Yu, Fuli, Keinan, Alon, Chen, Hua, Ferland, Russell J., Hill, Robert S., Mignault, Andre A., Walsh, Christopher A., Reich, David
Publicado 2009

PaSD-qc: quality control for single cell whole-genome sequencing data using power spectral density estimation

por Sherman, Maxwell A, Barton, Alison R, Lodato, Michael A, Vitzthum, Carl, Coulter, Michael E, Walsh, Christopher A, Park, Peter J
Publicado 2018

Glial dysregulation in the human brain in fragile X-associated tremor/ataxia syndrome

por Dias, Caroline M., Issac, Biju, Sun, Liang, Lukowicz, Abigail, Talukdar, Maya, Akula, Shyam K., Miller, Michael B., Walsh, Katherine, Rockowitz, Shira, Walsh, Christopher A.
Publicado 2023

Molecular Basis for Specific Regulation of Neuronal Kinesin-3 Motors by Doublecortin Family Proteins

por Liu, Judy S., Schubert, Christian R., Fu, Xiaoqin, Fourniol, Franck J., Jaiswal, Jyoti K., Houdusse, Anne, Stultz, Collin M., Moores, Carolyn A., Walsh, Christopher A.
Publicado 2012

The polymicrogyria-associated GPR56 promoter preferentially drives gene expression in developing GABAergic neurons in common marmosets

por Murayama, Ayako Y., Kuwako, Ken-ichiro, Okahara, Junko, Bae, Byoung-Il, Okuno, Misako, Mashiko, Hiromi, Shimogori, Tomomi, Walsh, Christopher A., Sasaki, Erika, Okano, Hideyuki
Publicado 2020

Whole-genome analysis reveals the contribution of non-coding de novo transposon insertions to autism spectrum disorder

por Borges-Monroy, Rebeca, Chu, Chong, Dias, Caroline, Choi, Jaejoon, Lee, Soohyun, Gao, Yue, Shin, Taehwan, Park, Peter J., Walsh, Christopher A., Lee, Eunjung Alice
Publicado 2021

A recurrent de novo variant in NUSAP1 escapes nonsense‐mediated decay and leads to microcephaly, epilepsy, and developmental delay

por Mo, Alisa, Paz‐Ebstein, Emuna, Yanovsky‐Dagan, Shira, Lai, Abbe, Mor‐Shaked, Hagar, Gilboa, Tal, Yang, Edward, Shao, Diane D., Walsh, Christopher A., Harel, Tamar
Publicado 2023

Accurate detection of mosaic variants in sequencing data without matched controls

por Dou, Yanmei, Kwon, Minseok, Rodin, Rachel E., Cortés-Ciriano, Isidro, Doan, Ryan, Luquette, Lovelace J., Galor, Alon, Bohrson, Craig, Walsh, Christopher A., Park, Peter J.
Publicado 2020

Contrasting patterns of somatic mutations in neurons and glia reveal differential predisposition to disease in the aging human brain

por Ganz, Javier, Luquette, Lovelace J., Bizzotto, Sara, Bohrson, Craig L., Jin, Hu, Miller, Michael B., Zhou, Zinan, Galor, Alon, Park, Peter J., Walsh, Christopher A.
Publicado 2023

Candidate Gene Sequencing of LHX2, HESX1, and SOX2 in a Large Schizencephaly Cohort

por Mellado, Cecilia, Poduri, Annapurna, Gleason, Danielle, Elhosary, Princess C, Barry, Brenda J, Partlow, Jennifer N, Chang, Bernard S, Shaw, Gary M, Barkovich, A James, Walsh, Christopher A
Publicado 2010