Robert E. Handsaker

137.4k citations
30 papers · 21.0k · 5 hit papers · h-index 23

Impact in

  • Genetics top 0.02%
    • Genetic diversity and population structure
    • Genetic Associations and Epidemiology
    • Genetic and phenotypic traits in livestock
    • Genetic Mapping and Diversity in Plants and Animals
    • Genomics and Rare Diseases
    • Genomic variations and chromosomal abnormalities
  • Biological Psychiatry top 0.5%

Papers in

  • Genetics 16
    • Genomic variations and chromosomal abnormalities 9
    • Genomics and Rare Diseases 9
    • Genetic Associations and Epidemiology 7
  • Molecular Biology 14
    • Genomics and Phylogenetic Studies 5
    • DNA Repair Mechanisms 2
Co-authors
Eric Banks (2 shared papers)Gábor Marth (2 shared papers)Adam Auton (2 shared papers)Gil McVean (2 shared papers)Richard Durbin (2 shared papers)Gonçalo R. Abecasis (2 shared papers)Stephen T. Sherry (1 shared paper)Gerton Lunter (1 shared paper)
Journals
Nature Genetics (7 papers)Nature (6 papers)Cell (3 papers)Nature Communications (3 papers)Bioinformatics (2 papers)
Partner nations
United StatesUnited KingdomIsrael

In The Last Decade

Robert E. Handsaker

29 papers receiving 20.7k citations

Robert E. Handsaker's Hit Papers

Long somatic DNA-repeat expansion drives neurodegeneration in Huntington’s disease 2025 · 58 citations
580+6+12Years since publication2.5k5.0k7.5k10.0k
What are hit papers?

Hit papers significantly outperform the citation benchmark for their cohort. A paper qualifies if any of the following hold:

  • it has ≥500 total citations;
  • it reaches ≥1.5× the top-1% citation threshold for papers in the same subfield and year (the threshold is the minimum needed to enter the top 1%, not the average within it);
  • it reaches the top citation threshold in at least one of its specific research topics.
  1. 2025 Cell
  2. 2016 Nature
  3. 2012 Nature
  4. 2011 Bioinformatics
  5. 2008 Bioinformatics

Peers

Robert E. Handsaker
Comparison fields: 5 of 182
  • Genetics 9.7k
  • Biological Psychiatry 495
  • Molecular Biology 7.7k
  • Cancer Research 1.5k
  • Plant Science 3.2k
Replace Shaun Purcell with:
Shaun Purcell United States
Benjamin M. Neale United States
Julian Maller United States
Pamela Sklar United States
Steve Rozen Singapore
Paul I. W. de Bakker United States
Manuel A. R. Ferreira Australia
Alec Wysoker United States
Alkes L. Price United States
D.B. Bender United States
Robert E. Handsaker relative to Shaun Purcell United States Shaun Purcell's profile →
Citations per field
00.5×1.5×
Shaun Purcell · 1×
Citations per year

Countries citing papers authored by Robert E. Handsaker

Since Specialization
Citations

This map shows the geographic impact of Robert E. Handsaker's research. It shows the number of citations coming from papers published by authors working in each country. You can also color the map by specialization and compare the number of citations received by Robert E. Handsaker with the expected number of citations based on a country's size and research output (numbers larger than one mean the country cites Robert E. Handsaker more than expected).

Fields of papers citing papers by Robert E. Handsaker

Since Specialization
Physical SciencesHealth SciencesLife SciencesSocial Sciences

This network shows the impact of papers produced by Robert E. Handsaker. Nodes represent research fields, and links connect fields that are likely to share authors. Colored nodes show fields that tend to cite the papers produced by Robert E. Handsaker. The network helps show where Robert E. Handsaker may publish in the future.

Co-authors

The 25 scholars most cited alongside Robert E. Handsaker, linked wherever they have co-authored with each other. Click a name or a connecting line to browse the papers they share.

Border = papers with Robert E. Handsaker Line = papers co-authored together Robert E. Handsaker links everyone, so they are left out of the graph.

All Works

20 of 20 papers shown

Showing the 20 most-cited of 30 papers — load more, or switch the sort, to bring in the rest.

#Work
1
The variant call format and VCFtools
Bioinformatics ·Petr Danecek, Adam Auton, Gonçalo R. Abecasis, Cornelis A. Albers, Eric Banks, Mark A. DePristo, Robert E. Handsaker, Gerton Lunter, Gábor Marth, Stephen T. Sherry, Gil McVean, Richard Durbin, (unknown)
Hit paper breakdown →		201110456
2
An integrated map of genetic variation from 1,092 human genomes
Nature ·(unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), Gil McVean, (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), Robert E. Handsaker, (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), Mark A. DePristo, (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), Richard Durbin, (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), Gonçalo R. Abecasis, Jin Yu, (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), Gábor Marth, (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), Adam Auton, (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown), (unknown)
Hit paper breakdown →		20125372
3
Schizophrenia risk from complex variation of complement component 4
Nature ·Aswin Sekar, (unknown), Heather de Rivera, Avery Davis, Timothy R. Hammond, Nolan Kamitaki, Katherine Tooley, Jessy Présumey, Matthew L. Baum, Vanessa Van Doren, Giulio Genovese, Samuel A. Rose, Robert E. Handsaker, Mark J. Daly, Michael C. Carroll, Beth Stevens, Steven A. McCarroll
Hit paper breakdown →		20161643
4
SNAP: a web-based tool for identification and annotation of proxy SNPs using HapMap
Bioinformatics ·Andrew D. Johnson, Robert E. Handsaker, Sara L. Pulit, Marcia M. Nizzari, Christopher J. O’Donnell, Paul I. W. de Bakker
Hit paper breakdown →		2008949
5
Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
The American Journal of Human Genetics ·Menachem Fromer, Jennifer L. Moran, Kimberly Chambert, Eric Banks, Sarah E. Bergen, Douglas M. Ruderfer, Robert E. Handsaker, Steven A. McCarroll, Michael O‘Donovan, Michael J. Owen, George Kirov, Patrick F. Sullivan, Christina M. Hultman, Pamela Sklar, Shaun Purcell
2012382
6
Human pluripotent stem cells recurrently acquire and expand dominant negative P53 mutations
Nature ·Florian T. Merkle, Sulagna Ghosh, Nolan Kamitaki, Jana M. Mitchell, Yishai Avior, Curtis J. Mello, Seva Kashin, Shila Mekhoubad, Duško Ilić, Maura E. Charlton, Genevieve Saphier, Robert E. Handsaker, Giulio Genovese, Shiran Bar, Nissim Benvenisty, Steven A. McCarroll, Kevin Eggan
2017368
7
Large multiallelic copy number variations in humans
Nature Genetics ·Robert E. Handsaker, Vanessa Van Doren, Jennifer R. Berman, Giulio Genovese, Seva Kashin, Linda M Boettger, Steven A. McCarroll
2015250
8
Insights into clonal haematopoiesis from 8,342 mosaic chromosomal alterations
Nature ·Po‐Ru Loh, Giulio Genovese, Robert E. Handsaker, Hilary K. Finucane, Yakir Reshef, Pier Francesco Palamara, Brenda M. Birmann, Michael E. Talkowski, Samuel F. Bakhoum, Steven A. McCarroll, Alkes L. Price
2018239
9
Discovery and genotyping of genome structural polymorphism by sequencing on a population scale
Nature Genetics ·Robert E. Handsaker, Joshua M. Korn, James Nemesh, Steven A. McCarroll
2011235
10
Genome-wide association study in a Swedish population yields support for greater CNV and MHC involvement in schizophrenia compared with bipolar disorder
Molecular Psychiatry ·Sarah E. Bergen, Colm Ó'Dúshláine, Stephan Ripke, P H Lee, Douglas M. Ruderfer, Susanne Akterin, Jennifer L. Moran, Kimberly D. Chambert, Robert E. Handsaker, Lena Backlund, Urban Ösby, Steven A. McCarroll, Mikael Landén, Edward M. Scolnick, Patrik K. E. Magnusson, Paul Lichtenstein, Christina M. Hultman, Shaun Purcell, Pamela Sklar, Patrick F. Sullivan
2012177
11
Genetic Variation in Human DNA Replication Timing
Cell ·Amnon Koren, Robert E. Handsaker, Nolan Kamitaki, Rosa Karlić, Sulagna Ghosh, Paz Polak, Kevin Eggan, Steven A. McCarroll
2014108
12
Structural haplotypes and recent evolution of the human 17q21.31 region
Nature Genetics ·Linda M Boettger, Robert E. Handsaker, Michael C. Zody, Steven A. McCarroll
2012104
13
Structural forms of the human amylase locus and their relationships to SNPs, haplotypes and obesity
Nature Genetics ·Christina L. Usher, Robert E. Handsaker, Tõnu Esko, Marcus A. Tuke, Michael N. Weedon, Alex Hastie, Han Cao, Jennifer Moon, Seva Kashin, Christian Fuchsberger, Andres Metspalu, Carlos N. Pato, Michele T. Pato, Mark I. McCarthy, Michael Boehnke, David Altshuler, Timothy M. Frayling, Joel N. Hirschhorn, Steven A. McCarroll
2015100
14
Protein-coding repeat polymorphisms strongly shape diverse human phenotypes
Science ·Ronen E. Mukamel, Robert E. Handsaker, Maxwell A. Sherman, Alison R. Barton, Yiming Zheng, Steven A. McCarroll, Po‐Ru Loh
202199
15
A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica
Nature Communications ·Karol Estrada, Christopher W. Whelan, Fengmei Zhao, Paola G. Bronson, Robert E. Handsaker, Chao Sun, John P. Carulli, Tim Harris, Richard M. Ransohoff, Steven A. McCarroll, Aaron Day-Williams, Benjamin Greenberg, Daniel G. MacArthur
201897
16
Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels
Nature Genetics ·Linda M Boettger, Rany M. Salem, Robert E. Handsaker, Gina M. Peloso, Sekar Kathiresan, Joel N. Hirschhorn, Steven A. McCarroll
201676
17
Long somatic DNA-repeat expansion drives neurodegeneration in Huntington’s disease
Cell ·Robert E. Handsaker, Seva Kashin, Nora Reed, Steven Tan, Won‐Seok Lee, Tara M. McDonald, Kiely Morris, Nolan Kamitaki, Christopher D. Mullally, Neda R. Morakabati, Melissa Goldman, Gabriel Lind, Rhea Kohli, Elisabeth Lawton, Marina Hogan, Kiku Ichihara, Sabina Berretta, Steven A. McCarroll
Hit paper breakdown →		202558
18
Utility of long-read sequencing for All of Us
Nature Communications ·Medhat Mahmoud, Yongqing Huang, Kiran Garimella, Peter A. Audano, (unknown), Nripesh Prasad, Robert E. Handsaker, Steven C. Hall, A. Pionzio, Michael C. Schatz, Michael E. Talkowski, Evan E. Eichler, Shawn Levy, Fritz J. Sedlazeck
202451
19
Using population admixture to help complete maps of the human genome
Nature Genetics ·Giulio Genovese, Robert E. Handsaker, Heng Li, Nicolas Altemose, Amelia M. Lindgren, Kimberly Chambert, Bogdan Paşaniuc, Alkes L. Price, David Reich, Cynthia C. Morton, Martin R. Pollak, James G. Wilson, Steven A. McCarroll
201344
20
Whole-genome analysis of human embryonic stem cells enables rational line selection based on genetic variation
Cell stem cell ·Florian T. Merkle, Sulagna Ghosh, Giulio Genovese, Robert E. Handsaker, Seva Kashin, Daniel Meyer, Konrad J. Karczewski, Colm O’Dushlaine, Carlos N. Pato, Michele T. Pato, Daniel G. MacArthur, Steven A. McCarroll, Kevin Eggan
202229

About Robert E. Handsaker

Robert E. Handsaker is a scholar working on Genetics, Molecular Biology, Cancer Research, Cellular and Molecular Neuroscience and Plant Science, having authored 30 papers that have together received 21.0k indexed citations. Recurring topics across this work include Genomic variations and chromosomal abnormalities (9 papers), Genomics and Rare Diseases (9 papers), Genetic Associations and Epidemiology (7 papers), Cancer Genomics and Diagnostics (6 papers), Genomics and Phylogenetic Studies (5 papers), Genetic Neurodegenerative Diseases (4 papers), Chromosomal and Genetic Variations (4 papers) and DNA Repair Mechanisms (2 papers). The work is most often cited by research in Genetics (9.7k citations), Biological Psychiatry (495 citations), Molecular Biology (7.7k citations), Cancer Research (1.5k citations) and Plant Science (3.2k citations). Robert E. Handsaker has collaborated with scholars based in United States, United Kingdom and Israel. Frequent co-authors include Eric Banks, Gábor Marth, Adam Auton, Gil McVean, Richard Durbin, Gonçalo R. Abecasis, Stephen T. Sherry, Gerton Lunter, Cornelis A. Albers and Petr Danecek. Their work appears in journals such as Nature Genetics, Nature, Cell, Nature Communications and Bioinformatics.

Rankless uses publication and citation data sourced from OpenAlex, an open and comprehensive bibliographic database. While OpenAlex provides broad and valuable coverage of the global research landscape, it—like all bibliographic datasets—has inherent limitations. These include incomplete records, variations in author disambiguation, differences in journal indexing, and delays in data updates. As a result, some metrics and network relationships displayed in Rankless may not fully capture the entirety of a scholar's output or impact.

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