日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

Insights into DNA repeat expansions among 900,000 biobank participants

对90万生物样本库参与者DNA重复序列扩增的深入了解

Hujoel, Margaux L A; Handsaker, Robert E; Tang, David; Kamitaki, Nolan; Mukamel, Ronen E; Rubinacci, Simone; Palamara, Pier Francesco; McCarroll, Steven A; Loh, Po-Ru

Human and bacterial genetic variation shape oral microbiomes and health.

人类和细菌的基因变异影响口腔微生物群和健康。

Kamitaki Nolan, Handsaker Robert E, Hujoel Margaux L A, Mukamel Ronen E, Usher Christina L, McCarroll Steven A, Loh Po-Ru

Whole-genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia

基于全基因组序列的非裔美国人双相情感障碍和精神分裂症关联分析

Li, Runjia; Gagliano Taliun, Sarah A; Liao, Kevin; Flickinger, Matthew; Sobell, Janet L; Genovese, Giulio; Locke, Adam E; Chiu, Rebeca Rothwell; LeFaive, Jonathon; Wang, Jiongming; Martins, Taylor; Chapman, Sinéad; Neumann, Anna; Handsaker, Robert E; Arnett, Donna K; Barnes, Kathleen C; Boerwinkle, Eric; Braff, David; Cade, Brian E; Fornage, Myriam; Gibbs, Richard A; Hoth, Karin F; Hou, Lifang; Kooperberg, Charles; Loos, Ruth J F; Metcalf, Ginger A; Montgomery, Courtney G; Morrison, Alanna C; Qin, Zhaohui S; Redline, Susan; Reiner, Alexander P; Rich, Stephen S; Rotter, Jerome I; Taylor, Kent D; Viaud-Martinez, Karine A; Bigdeli, Tim B; Gabriel, Stacey; Zollner, Sebastian; Smith, Albert V; Abecasis, Goncalo; McCarroll, Steve A; Pato, Michele T; Pato, Carlos N; Boehnke, Michael; Knowles, James; Kang, Hyun Min; Ophoff, Roel A; Ernst, Jason; Scott, Laura J

Long somatic DNA-repeat expansion drives neurodegeneration in Huntington's disease.

亨廷顿病中,体细胞DNA重复序列的长扩增是导致神经退行性变的原因

Handsaker Robert E, Kashin Seva, Reed Nora M, Tan Steven, Lee Won-Seok, McDonald Tara M, Morris Kiely, Kamitaki Nolan, Mullally Christopher D, Morakabati Neda R, Goldman Melissa, Lind Gabriel, Kohli Rhea, Lawton Elisabeth, Hogan Marina, Ichihara Kiku, Berretta Sabina, McCarroll Steven A

A shared DNA-repeat toxicity threshold, reached somatically at cell-type-specific rates, unites cortical and striatal neurodegeneration in Huntington's disease

亨廷顿病中皮质和纹状体神经退行性变均由共同的DNA重复序列毒性阈值引起,该阈值在体细胞中以细胞类型特异性速率达到。

Kashin, Seva; Lee, Won-Seok; McDonald, Tara M; Morris, Kiely; Handsaker, Robert E; Mello, Curtis; Spina, Liv; Reed, Nora M; de Rivera, Heather; Jana, Sri Havya; Hogan, Marina; Berretta, Sabina; McCarroll, Steven A

Human and bacterial genetic variation shape oral microbiomes and health

人类和细菌的遗传变异影响口腔微生物组和健康。

Kamitaki, Nolan; Handsaker, Robert E; Hujoel, Margaux L A; Mukamel, Ronen E; Usher, Christina L; McCarroll, Steven A; Loh, Po-Ru

Whole genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia

基于全基因组序列的非裔美国人双相情感障碍和精神分裂症关联分析

Li, Runjia; Taliun, Sarah A Gagliano; Liao, Kevin; Flickinger, Matthew; Sobell, Janet L; Genovese, Giulio; Locke, Adam E; Chiu, Rebeca Rothwell; LeFaive, Jonathon; Wang, Jiongming; Martins, Taylor; Chapman, Sinéad; Neumann, Anna; Handsaker, Robert E; Arnett, Donna K; Barnes, Kathleen C; Boerwinkle, Eric; Braff, David; Cade, Brian E; Fornage, Myriam; Gibbs, Richard A; Hoth, Karin F; Hou, Lifang; Kooperberg, Charles; Loos, Ruth J F; Metcalf, Ginger A; Montgomery, Courtney G; Morrison, Alanna C; Qin, Zhaohui S; Redline, Susan; Reiner, Alexander P; Rich, Stephen S; Rotter, Jerome I; Taylor, Kent D; Viaud-Martinez, Karine A; Bigdeli, Tim B; Gabriel, Stacey; Zollner, Sebastian; Smith, Albert V; Abecasis, Goncalo; McCarroll, Steve; Pato, Michele T; Pato, Carlos N; Boehnke, Michael; Knowles, James; Kang, Hyun Min; Ophoff, Roel A; Ernst, Jason; Scott, Laura J

A concerted neuron-astrocyte program declines in ageing and schizophrenia

神经元-星形胶质细胞协同程序在衰老和精神分裂症中衰退

Ling, Emi; Nemesh, James; Goldman, Melissa; Kamitaki, Nolan; Reed, Nora; Handsaker, Robert E; Genovese, Giulio; Vogelgsang, Jonathan S; Gerges, Sherif; Kashin, Seva; Ghosh, Sulagna; Esposito, John M; Morris, Kiely; Meyer, Daniel; Lutservitz, Alyssa; Mullally, Christopher D; Wysoker, Alec; Spina, Liv; Neumann, Anna; Hogan, Marina; Ichihara, Kiku; Berretta, Sabina; McCarroll, Steven A

Protein-altering variants at copy number-variable regions influence diverse human phenotypes

拷贝数可变区的蛋白质改变变异会影响多种人类表型

Hujoel, Margaux L A; Handsaker, Robert E; Sherman, Maxwell A; Kamitaki, Nolan; Barton, Alison R; Mukamel, Ronen E; Terao, Chikashi; McCarroll, Steven A; Loh, Po-Ru

Utility of long-read sequencing for All of Us

长读长测序对我们所有人的实用性

Mahmoud, M; Huang, Y; Garimella, K; Audano, P A; Wan, W; Prasad, N; Handsaker, R E; Hall, S; Pionzio, A; Schatz, M C; Talkowski, M E; Eichler, E E; Levy, S E; Sedlazeck, F J