关注
Michael E Talkowski
Michael E Talkowski
未知所在单位机构
没有经过验证的电子邮件地址
标题
引用次数
引用次数
年份
The mutational constraint spectrum quantified from variation in 141,456 humans
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
Nature 581 (7809), 434-443, 2020
77282020
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
18782020
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
15272015
Variation across 141,456 human exomes and genomes reveals the spectrum of loss-of-function intolerance across human protein-coding genes
KJ Karczewski, LC Francioli, G Tiao, BB Cummings, J Alföldi, Q Wang, ...
biorxiv, 531210, 2019
11752019
Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders
PH Lee, V Anttila, H Won, YCA Feng, J Rosenthal, Z Zhu, EM Tucker-Drob, ...
Cell 179 (7), 1469-1482. e11, 2019
11202019
Multi-platform discovery of haplotype-resolved structural variation in human genomes
MJP Chaisson, AD Sanders, X Zhao, A Malhotra, D Porubsky, T Rausch, ...
Nature communications 10 (1), 1784, 2019
7972019
A structural variation reference for medical and population genetics
RL Collins, H Brand, KJ Karczewski, X Zhao, J Alföldi, LC Francioli, ...
Nature 581 (7809), 444-451, 2020
7952020
Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries
ME Talkowski, JA Rosenfeld, I Blumenthal, V Pillalamarri, C Chiang, ...
Cell 149 (3), 525-537, 2012
6502012
Low incidence of off-target mutations in individual CRISPR-Cas9 and TALEN targeted human stem cell clones detected by whole-genome sequencing
A Veres, BS Gosis, Q Ding, R Collins, A Ragavendran, H Brand, S Erdin, ...
Cell stem cell 15 (1), 27-30, 2014
6412014
Efficient ablation of genes in human hematopoietic stem and effector cells using CRISPR/Cas9
PK Mandal, LMR Ferreira, R Collins, TB Meissner, CL Boutwell, M Friesen, ...
Cell stem cell 15 (5), 643-652, 2014
6152014
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
M Byrska-Bishop, US Evani, X Zhao, AO Basile, HJ Abel, AA Regier, ...
Cell 185 (18), 3426-3440. e19, 2022
5292022
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
P Ebert, PA Audano, Q Zhu, B Rodriguez-Martin, D Porubsky, MJ Bonder, ...
Science 372 (6537), eabf7117, 2021
5032021
KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant
C Golzio, J Willer, ME Talkowski, EC Oh, Y Taniguchi, S Jacquemont, ...
Nature 485 (7398), 363-367, 2012
4712012
Mapping and phasing of structural variation in patient genomes using nanopore sequencing
M Cretu Stancu, MJ Van Roosmalen, I Renkens, MM Nieboer, ...
Nature communications 8 (1), 1326, 2017
3932017
CHD8 regulates neurodevelopmental pathways associated with autism spectrum disorder in neural progenitors
A Sugathan, M Biagioli, C Golzio, S Erdin, I Blumenthal, P Manavalan, ...
Proceedings of the National Academy of Sciences 111 (42), E4468-E4477, 2014
3562014
Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations
PR Loh, G Genovese, RE Handsaker, HK Finucane, YA Reshef, ...
Nature 559 (7714), 350-355, 2018
3452018
The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies
C Redin, H Brand, RL Collins, T Kammin, E Mitchell, JC Hodge, ...
Nature genetics 49 (1), 36-45, 2017
3262017
Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder
JY An, K Lin, L Zhu, DM Werling, S Dong, H Brand, HZ Wang, X Zhao, ...
Science 362 (6420), eaat6576, 2018
2952018
Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration
C Chiang, JC Jacobsen, C Ernst, C Hanscom, A Heilbut, I Blumenthal, ...
Nature genetics 44 (4), 390-397, 2012
2832012
An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder
DM Werling, H Brand, JY An, MR Stone, L Zhu, JT Glessner, RL Collins, ...
Nature genetics 50 (5), 727-736, 2018
2802018
系统目前无法执行此操作,请稍后再试。
文章 1–20