Robert E. Handsaker - Publications, H-index & Citations

Robert E. Handsaker

Broad Institute of MIT and Harvard

69H指数

121论文数

20.1W被引数

收录论文 36

发表时间

Human and bacterial genetic variation shape oral microbiomes and health 人类和细菌遗传变异塑造了口腔微生物群落和健康

Nature

IF48.5

2026-01-28

OAAI

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

Insights into DNA repeat expansions among 900,000 biobank participants 对900,000例生物库参与者中DNA重复扩展的见解

Nature

IF48.5

2026-01-07

OAAI

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

Whole genome sequence-based association analysis of African American individuals with bipolar disorder and schizophrenia 基于全基因组序列的关联分析：非裔美国人个体中双相障碍与精神分裂症的研究

Human Genetics and Genomics Advances

IF3.6

2025-08-30

OAAI

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

Long somatic DNA-repeat expansion drives neurodegeneration in Huntington's disease 长片段体细胞DNA重复序列扩增驱动亨廷顿病的神经退行性变化

CELL

IF42.5

2025-02-01

OAAI

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.

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体影响不同的人类表型

NATURE GENETICS

IF31.8

2024-03-28

OAAI

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

NATURE COMMUNICATIONS

IF15.7

2024-01-29

OAAI

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.

Chromosomal phase improves aneuploidy detection in non-invasive prenatal testing at low fetal DNA fractions

SCIENTIFIC REPORTS

IF3.9

2022-07-14

OAAI

Genovese, Giulio; Mello, Curtis J.; Loh, Po-Ru; Handsaker, Robert E.; Kashin, Seva; Whelan, Christopher W.; Bayer-Zwirello, Lucy A.; McCarroll, Steven A.

Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation 人类胚胎干细胞的全基因组分析使基于遗传变异的合理选系成为可能

CELL STEM CELL

IF20.4

2022-03-01

OAAI

Merkle, Florian T.; Ghosh, Sulagna; Genovese, Giulio; Handsaker, Robert E.; Kashin, Seva; Meyer, Daniel; Karczewski, Konrad J.; O'Dushlaine, Colm; Pato, Carlos; Pato, Michele; MacArthur, Daniel G.; McCarroll, Steven A.; Eggan, Kevin

The genetic architecture of DNA replication timing in human pluripotent stem cells 人类多能干细胞中DNA复制时间的遗传结构

NATURE COMMUNICATIONS

IF15.7

2021-11-19

OAAI

Ding, Qiliang; Edwards, Matthew M.; Wang, Ning; Zhu, Xiang; Bracci, Alexa N.; Hulke, Michelle L.; Hu, Ya; Tong, Yao; Hsiao, Joyce; Charvet, Christine J.; Ghosh, Sulagna; Handsaker, Robert E.; Eggan, Kevin; Merkle, Florian T.; Gerhardt, Jeannine; Egli, Dieter; Clark, Andrew G.; Koren, Amnon

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries (vol 9, 2606, 2018)

NATURE COMMUNICATIONS

IF15.7

2020-04-01

OAAI

Zekavat, Seyedeh M.; Ruotsalainen, Sanni; Handsaker, Robert E.; Alver, Maris; Bloom, Jonathan; Poterba, Timothy; Seed, Cotton; Ernst, Jason; Chaffin, Mark; Engreitz, Jesse; Peloso, Gina M.; Manichaikul, Ani; Yang, Chaojie; Ryan, Kathleen A.; Fu, Mao; Johnson, W. Craig; Tsai, Michael; Budoff, Matthew; Vasan, Ramachandran S.; Cupples, L. Adrienne; Rotter, Jerome I.; Rich, Stephen S.; Post, Wendy; Mitchell, Braxton D.; Correa, Adolfo; Metspalu, Andres; Wilson, James G.; Salomaa, Veikko; Kellis, Manolis; Daly, Mark J.; Neale, Benjamin M.; McCarroll, Steven; Surakka, Ida; Esko, Tonu; Ganna, Andrea; Ripatti, Samuli; Kathiresan, Sekar; Natarajan, Pradeep

Multi-platform discovery of haplotype-resolved structural variation in human genomes 人类基因组单倍型解析结构变异的多平台发现

NATURE COMMUNICATIONS

IF15.7

2019-04-16

547

OAAI

Chaisson, Mark J. P.; Sanders, Ashley D.; Zhao, Xuefang; Malhotra, Ankit; Porubsky, David; Rausch, Tobias; Gardner, Eugene J.; Rodriguez, Oscar L.; Guo, Li; Collins, Ryan L.; Fan, Xian; Wen, Jia; Handsaker, Robert E.; Fairley, Susan; Kronenberg, Zev N.; Kong, Xiangmeng; Hormozdiari, Fereydoun; Lee, Dillon; Wenger, Aaron M.; Hastie, Alex R.; Antaki, Danny; Anantharaman, Thomas; Audano, Peter A.; Brand, Harrison; Cantsilieris, Stuart; Cao, Han; Cerveira, Eliza; Chen, Chong; Chen, Xintong; Chin, Chen-Shan; Chong, Zechen; Chuang, Nelson T.; Lambert, Christine C.; Church, Deanna M.; Clarke, Laura; Farrell, Andrew; Flores, Joey; Galeev, Timur; Gorkin, David U.; Gujral, Madhusudan; Guryev, Victor; Heaton, William Haynes; Korlach, Jonas; Kumar, Sushant; Kwon, Jee Young; Lam, Ernest T.; Lee, Jong Eun; Lee, Joyce; Lee, Wan-Ping; Lee, Sau Peng; Li, Shantao; Marks, Patrick; Viaud-Martinez, Karine; Meiers, Sascha; Munson, Katherine M.; Navarro, Fabio C. P.; Nelson, Bradley J.; Nodzak, Conor; Noor, Amina; Kyriazopoulou-Panagiotopoulou, Sofia; Pang, Andy W. C.; Qiu, Yunjiang; Rosanio, Gabriel; Ryan, Mallory; Stuetz, Adrian; Spierings, Diana C. J.; Ward, Alistair; Welch, AnneMarie E.; Xiao, Ming; Xu, Wei; Zhang, Chengsheng; Zhu, Qihui; Zheng-Bradley, Xiangqun; Lowy, Ernesto; Yakneen, Sergei; McCarroll, Steven; Jun, Goo; Ding, Li; Koh, Chong Lek; Ren, Bing; Flicek, Paul; Chen, Ken; Gerstein, Mark B.; Kwok, Pui-Yan; Lansdorp, Peter M.; Marth, Gabor T.; Sebat, Jonathan; Shi, Xinghua; Bashir, Ali; Ye, Kai; Devine, Scott E.; Talkowski, Michael E.; Mills, Ryan E.; Marschall, Tobias; Korbel, Jan O.; Eichler, Evan E.; Lee, Charles

The Genetic Landscape of Diamond-Blackfan Anemia (vol 103, pg 930, 2018)

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2019-02-01

OAAI

Ulirsch, Jacob C.; Verboon, Jeffrey M.; Kazerounian, Shideh; Guo, Michael H.; Yuan, Daniel; Ludwig, Leif S.; Handsaker, Robert E.; Abdulhay, Nour J.; Fiorini, Claudia; Genovese, Giulio; Lim, Elaine T.; Cheng, Aaron; Cummings, Beryl B.; Chao, Katherine R.; Beggs, Alan H.; Genetti, Casie A.; Sieff, Colin A.; Newburger, Peter E.; Niewiadomska, Edyta; Matysiak, Michal; Vlachos, Adrianna; Lipton, Jeffrey M.; Atsidaftos, Eva; Glader, Bertil; Narla, Anupama; Gleizes, Pierre-Emmanuel; O'Donohue, Marie-Francoise; Montel-Lehry, Nathalie; Amor, David J.; McCarroll, Steven A.; O'Donnell-Luria, Anne H.; Gupta, Namrata; Gabriel, Stacey B.; MacArthur, Daniel G.; Lander, Eric S.; Lek, Monkol; Da Costa, Lydie; Nathan, David G.; Korostelev, Andrei A.; Do, Ron; Sankaran, Vijay G.; Gazda, Hanna T.

STRUCTURAL VARIATIONS OF SCHIZOPHRENIA RISK GENE COMPLEMENT COMPONENT 4 (C4) AND BRAIN MRI PHENOTYPES

EUROPEAN NEUROPSYCHOPHARMACOLOGY

IF6.7

2019-01-01

PREAI

Shafee, Rebecca; Handsaker, Robert; Kamitaki, Nolan; Churchhouse, Claire; Neale, Benjamin; McCarroll, Steven; Robinson, Elise

The Genetic Landscape of Diamond-Blackfan Anemia

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2018-12-01

169

OAAI

Deep coverage whole genome sequences and plasma lipoprotein(a) in individuals of European and African ancestries

NATURE COMMUNICATIONS

IF15.7

2018-07-04

OAAI

Zekavat, Seyedeh M.; Ruotsalainen, Sanni; Handsaker, Robert E.; Alver, Maris; Bloom, Jonathan; Poterba, Timothy; Seed, Cotton; Ernst, Jason; Chaffin, Mark; Engreitz, Jesse; Peloso, Gina M.; Manichaikul, Ani; Yang, Chaojie; Ryan, Kathleen A.; Fu, Mao; Johnson, W. Craig; Tsai, Michael; Budoff, Matthew; Ramachandran, Vasan S.; Cupples, L. Adrienne; Rotter, Jerome I.; Rich, Stephen S.; Post, Wendy; Mitchell, Braxton D.; Correa, Adolfo; Metspalu, Andres; Wilson, James G.; Salomaa, Veikko; Kellis, Manolis; Daly, Mark J.; Neale, Benjamin M.; McCarroll, Steven; Surakka, Ida; Esko, Tonu; Ganna, Andrea; Ripatti, Samuli; Kathiresan, Sekar; Natarajan, Pradeep

A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica

NATURE COMMUNICATIONS

IF15.7

2018-05-16

OAAI

Estrada, Karol; Whelan, Christopher W.; Zhao, Fengmei; Bronson, Paola; Handsaker, Robert E.; Sun, Chao; Carulli, John P.; Harris, Tim; Ransohoff, Richard M.; McCarroll, Steven A.; Day-Williams, Aaron G.; Greenberg, Benjamin M.; MacArthur, Daniel G.

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder 全基因组序列关联研究的分析框架及其对自闭症谱系障碍的意义

NATURE GENETICS

IF31.8

2018-04-26

197

OAAI

Werling, Donna M.; Brand, Harrison; An, Joon-Yong; Stone, Matthew R.; Zhu, Lingxue; Glessner, Joseph T.; Collins, Ryan L.; Dong, Shan; Layer, Ryan M.; Markenscoff-Papadimitriou, Eirene; Farrell, Andrew; Schwartz, Grace B.; Wang, Harold Z.; Currall, Benjamin B.; Zhao, Xuefang; Dea, Jeanselle; Duhn, Clif; Erdman, Carolyn A.; Gilson, Michael C.; Yadav, Rachita; Handsaker, Robert E.; Kashin, Seva; Klei, Lambertus; Mandell, Jeffrey D.; Nowakowski, Tomasz J.; Liu, Yuwen; Pochareddy, Sirisha; Smith, Louw; Walker, Michael F.; Waterman, Matthew J.; He, Xin; Kriegstein, Arnold R.; Rubenstein, John L.; Sestan, Nenad; McCarroll, Steven A.; Neale, Benjamin M.; Coon, Hilary; Willsey, A. Jeremy; Buxbaum, Joseph D.; Daly, Mark J.; State, Matthew W.; Quinlan, Aaron R.; Marth, Gabor T.; Roeder, Kathryn; Devlin, Bernie; Talkowski, Michael E.; Sanders, Stephan J.

Common α-globin variants modify hematologic and other clinical phenotypes in sickle cell trait and disease 常见的 α-珠蛋白变异改变镰状细胞性状和疾病的血液学和其他临床表型

PLOS GENETICS

IF3.7

2018-03-28

OAAI

Raffield, Laura M.; Ulirsch, Jacob C.; Nail, Rakhi P.; Lessard, Samuel; Handsaker, Robert E.; Jain, Deepti; Kang, Hyun M.; Pankratz, Nathan; Auer, Paul L.; Bao, Erik L.; Smith, Joshua D.; Lange, Leslie A.; Lange, Ethan M.; Li, Yun; Thornton, Timothy A.; Young, Bessie A.; Abecasis, Goncaio R.; Laurie, Cathy C.; Nickerson, Deborah A.; McCarroll, Steven A.; Correa, Adolfo; Wilson, James G.; Lettre, Guillaume; Sankaran, Vijay G.; Reiner, Alex P.

GenomeVIP: a cloud platform for genomic variant discovery and interpretation

GENOME RESEARCH

IF5.5

2017-05-18

OAAI

Mashl, R. Jay; Scott, Adam D.; Huang, Kuan-lin; Wyczalkowski, Matthew A.; Yoon, Christopher J.; Niu, Beifang; DeNardo, Erin; Yellapantula, Venkata D.; Handsaker, Robert E.; Chen, Ken; Koboldt, Daniel C.; Ye, Kai; Fenyo, David; Raphael, Benjamin J.; Wendl, Michael C.; Ding, Li

Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences

NATURE GENETICS

IF31.8

2016-04-25

227

OAAI

Poznik, G. David; Xue, Yali; Mendez, Fernando L.; Willems, Thomas F.; Massaia, Andrea; Sayres, Melissa A. Wilson; Ayub, Qasim; McCarthy, Shane A.; Narechania, Apurva; Kashin, Seva; Chen, Yuan; Banerjee, Ruby; Rodriguez-Flores, Juan L.; Cerezo, Maria; Shao, Haojing; Gymrek, Melissa; Malhotra, Ankit; Louzada, Sandra; Desalle, Rob; Ritchie, Graham R. S.; Cerveira, Eliza; Fitzgerald, Tomas W.; Garrison, Erik; Marcketta, Anthony; Mittelman, David; Romanovitch, Mallory; Zhang, Chengsheng; Zheng-Bradley, Xiangqun; Abecasis, Goncalo R.; McCarroll, Steven A.; Flicek, Paul; Underhill, Peter A.; Coin, Lachlan; Zerbino, Daniel R.; Yang, Fengtang; Lee, Charles; Clarke, Laura; Auton, Adam; Erlich, Yaniv; Handsaker, Robert E.; Bustamante, Carlos D.; Tyler-Smith, Chris

研究方向