Accesso pubblico

Somatic mosaicism and neurological diseases

SS Jamuar, AM D'Gama, CA Walsh

Genomics, circuits, and pathways in clinical neuropsychiatry, 179-199, 2016

Mandati: US National Institutes of Health, Howard Hughes Medical Institute

Genes that control the size of the cerebral cortex

TH Chae, CA Walsh

Cortical Development: Genes and Genetic Abnormalities: Novartis Foundation …, 2008

Mandati: Howard Hughes Medical Institute

PPP3CA truncating variants clustered in the regulatory domain cause early‐onset refractory epilepsy

S Panneerselvam, J Wang, W Zhu, H Dai, JG Pappas, R Rabin, KJ Low, ...

Clinical genetics 100 (2), 227-233, 2021

Mandati: US National Institutes of Health

Jettison-MS of Nucleic Acid Species

P Wang, GL Shah, H Landau, ME Coulter, CA Walsh, E Roider, ...

Journal of the American Society for Mass Spectrometry 31 (8), 1641-1646, 2020

Mandati: US National Institutes of Health

Duplication 2p16 is associated with perisylvian polymicrogyria

D Amrom, A Poduri, JS Goldman, B Dan3, N Deconinck3, B Pichon, ...

American Journal of Medical Genetics Part A 179 (12), 2343-2356, 2019

Mandati: US National Institutes of Health

Human Neocortical Evolution and Neurological Disorders

R SeanHill, CA Walsh

Neocortical Neurogenesis in Development and Evolution, 569-594, 2023

Mandati: US National Institutes of Health, Howard Hughes Medical Institute

What Happens When It Goes Wrong?: Using Human Genetics to Understand Human Brain Development and Evolution

ME Coulter, CA Walsh

Mandati: US National Institutes of Health, Howard Hughes Medical Institute

Disponibili pubblicamente: 280

Synaptic, transcriptional and chromatin genes disrupted in autism

S De Rubeis, X He, AP Goldberg, CS Poultney, K Samocha, ...

Nature 515 (7526), 209-215, 2014

Mandati: US National Institutes of Health, Howard Hughes Medical Institute, Health …

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs

B Devlin, JR Kelsoe, P Sklar, MJ Daly, MC O'Donovan, N Craddock, ...

Nature genetics 45 (9), 984-994, 2013

Mandati: US National Institutes of Health, Australian Research Council, National …

Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism

FK Satterstrom, JA Kosmicki, J Wang, MS Breen, S De Rubeis, JY An, ...

Cell 180 (3), 568-584. e23, 2020

Mandati: US National Science Foundation, US National Institutes of Health, Autism …

Insights into autism spectrum disorder genomic architecture and biology from 71 risk loci

SJ Sanders, X He, AJ Willsey, AG Ercan-Sencicek, KE Samocha, ...

Neuron 87 (6), 1215-1233, 2015

Mandati: US National Institutes of Health, Howard Hughes Medical Institute, Canadian …

Multiple recurrent de novo CNVs, including duplications of the 7q11. 23 Williams syndrome region, are strongly associated with autism

SJ Sanders, AG Ercan-Sencicek, V Hus, R Luo, MT Murtha, ...

Neuron 70 (5), 863-885, 2011

Mandati: US National Institutes of Health, Howard Hughes Medical Institute

Identifying autism loci and genes by tracing recent shared ancestry

EM Morrow, SY Yoo, SW Flavell, TK Kim, Y Lin, RS Hill, NM Mukaddes, ...

science 321 (5886), 218-223, 2008

Mandati: US National Institutes of Health, Howard Hughes Medical Institute

A genome-wide linkage and association scan reveals novel loci for autism

LA Weiss, DE Arking, ...

Nature 461 (7265), 802-808, 2009

Mandati: US National Institutes of Health, National Institute of Health and Medical …

The cerebrospinal fluid provides a proliferative niche for neural progenitor cells

MK Lehtinen, MW Zappaterra, X Chen, YJ Yang, AD Hill, M Lun, ...

Neuron 69 (5), 893-905, 2011

Mandati: US National Institutes of Health, Howard Hughes Medical Institute

Somatic mutation, genomic variation, and neurological disease

A Poduri, GD Evrony, X Cai, CA Walsh

Science 341 (6141), 1237758, 2013

Mandati: US National Institutes of Health, Howard Hughes Medical Institute

Single-neuron sequencing analysis of L1 retrotransposition and somatic mutation in the human brain

GD Evrony, X Cai, E Lee, LB Hills, PC Elhosary, HS Lehmann, JJ Parker, ...

Cell 151 (3), 483-496, 2012

Mandati: US National Institutes of Health, Howard Hughes Medical Institute

Somatic mutation in single human neurons tracks developmental and transcriptional history

MA Lodato, MB Woodworth, S Lee, GD Evrony, BK Mehta, A Karger, ...

Science 350 (6256), 94-98, 2015

Mandati: US National Institutes of Health, Howard Hughes Medical Institute

Aging and neurodegeneration are associated with increased mutations in single human neurons

MA Lodato, RE Rodin, CL Bohrson, ME Coulter, AR Barton, M Kwon, ...

Science 359 (6375), 555-559, 2018

Mandati: US National Institutes of Health, Howard Hughes Medical Institute