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Schizophrenia risk from complex variation of complement component 4
Schizophrenia risk from complex variation of complement component 4
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Schizophrenia risk from complex variation of complement component 4

Sekar, Aswin ; Bialas, Allison R ; de Rivera, Heather ; Davis, Avery ; Hammond, Timothy R ; Kamitaki, Nolan ; Tooley, Katherine ; Presumey, Jessy ; Baum, Matthew ; Van Doren, Vanessa ; Genovese, Giulio ; Rose, Samuel A ; Handsaker, Robert E ; Daly, Mark J ; Carroll, Michael C ; Stevens, Beth ; McCarroll, Steven A

Nature (London), 2016-02, Vol.530 (7589), p.177-183 [Periódico revisado por pares]

England: Nature Publishing Group

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2
Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
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Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth

FROMER, Menachem ; MORAN, Jennifer L ; KIROV, George ; SULLIVAN, Patrick F ; HULTMAN, Christina M ; SKLAR, Pamela ; PURCELL, Shaun M ; CHAMBERT, Kimberly ; BANKS, Eric ; BERGEN, Sarah E ; RUDERFER, DouglasM ; HANDSAKER, Robert E ; MCCARROLL, Steven A ; O'DONOVAN, Michael C ; OWEN, Michael J

American journal of human genetics, 2012-10, Vol.91 (4), p.597-607 [Periódico revisado por pares]

Cambridge, MA: Cell Press

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3
Protein-coding repeat polymorphisms strongly shape diverse human phenotypes
Protein-coding repeat polymorphisms strongly shape diverse human phenotypes
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Protein-coding repeat polymorphisms strongly shape diverse human phenotypes

Mukamel, Ronen E ; Handsaker, Robert E ; Sherman, Maxwell A ; Barton, Alison R ; Zheng, Yiming ; McCarroll, Steven A ; Loh, Po-Ru

Science (American Association for the Advancement of Science), 2021-09, Vol.373 (6562), p.1499-1505 [Periódico revisado por pares]

United States: The American Association for the Advancement of Science

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4
Pathways Disrupted in Human ALS Motor Neurons Identified through Genetic Correction of Mutant SOD1
Pathways Disrupted in Human ALS Motor Neurons Identified through Genetic Correction of Mutant SOD1
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Pathways Disrupted in Human ALS Motor Neurons Identified through Genetic Correction of Mutant SOD1

Kiskinis, Evangelos ; Sandoe, Jackson ; Williams, Luis A. ; Boulting, Gabriella L. ; Moccia, Rob ; Wainger, Brian J. ; Han, Steve ; Peng, Theodore ; Thams, Sebastian ; Mikkilineni, Shravani ; Mellin, Cassidy ; Merkle, Florian T. ; Davis-Dusenbery, Brandi N. ; Ziller, Michael ; Oakley, Derek ; Ichida, Justin ; Di Costanzo, Stefania ; Atwater, Nick ; Maeder, Morgan L. ; Goodwin, Mathew J. ; Nemesh, James ; Handsaker, Robert E. ; Paull, Daniel ; Noggle, Scott ; McCarroll, Steven A. ; Joung, J. Keith ; Woolf, Clifford J. ; Brown, Robert H. ; Eggan, Kevin

Cell stem cell, 2014-06, Vol.14 (6), p.781-795 [Periódico revisado por pares]

United States: Elsevier Inc

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5
The variant call format and VCFtools
The variant call format and VCFtools
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The variant call format and VCFtools

Danecek, Petr ; Auton, Adam ; Abecasis, Goncalo ; Albers, Cornelis A ; Banks, Eric ; DePristo, Mark A ; Handsaker, Robert E ; Lunter, Gerton ; Marth, Gabor T ; Sherry, Stephen T ; McVean, Gilean ; Durbin, Richard

Bioinformatics, 2011-08, Vol.27 (15), p.2156-2158 [Periódico revisado por pares]

Oxford: Oxford University Press

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6
Genetic Variation in Human DNA Replication Timing
Genetic Variation in Human DNA Replication Timing
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Genetic Variation in Human DNA Replication Timing

Koren, Amnon ; Handsaker, Robert E. ; Kamitaki, Nolan ; Karlić, Rosa ; Ghosh, Sulagna ; Polak, Paz ; Eggan, Kevin ; McCarroll, Steven A.

Cell, 2014-11, Vol.159 (5), p.1015-1026 [Periódico revisado por pares]

United States: Elsevier Inc

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7
Discovery and genotyping of genome structural polymorphism by sequencing on a population scale
Discovery and genotyping of genome structural polymorphism by sequencing on a population scale
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Discovery and genotyping of genome structural polymorphism by sequencing on a population scale

McCarroll, Steven A ; Handsaker, Robert E ; Korn, Joshua M ; Nemesh, James

Nature genetics, 2011-03, Vol.43 (3), p.269-276 [Periódico revisado por pares]

New York, NY: Nature Publishing Group

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8
Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences
Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences
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Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences

Poznik, G David ; Xue, Yali ; Mendez, Fernando L ; Willems, Thomas F ; Massaia, Andrea ; Wilson Sayres, Melissa A ; 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, Gonçalo 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

Nature genetics, 2016-06, Vol.48 (6), p.593-599 [Periódico revisado por pares]

United States: Nature Publishing Group

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9
Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels
Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels
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Recurring exon deletions in the HP (haptoglobin) gene contribute to lower blood cholesterol levels

Boettger, Linda M ; Salem, Rany M ; Handsaker, Robert E ; Peloso, Gina M ; Kathiresan, Sekar ; Hirschhorn, Joel N ; McCarroll, Steven A

Nature genetics, 2016-04, Vol.48 (4), p.359-366 [Periódico revisado por pares]

United States: Nature Publishing Group

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10
A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica
A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica
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A whole-genome sequence study identifies genetic risk factors for neuromyelitis optica

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

Nature communications, 2018-05, Vol.9 (1), p.1929-10, Article 1929 [Periódico revisado por pares]

England: Nature Publishing Group

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