A citation-based method for searching scientific literature

Kaitlin E Samocha, Elise B Robinson, Stephan J Sanders, Christine Stevens, Aniko Sabo, Lauren M McGrath, Jack A Kosmicki, Karola Rehnström, Swapan Mallick, Andrew Kirby, Dennis P Wall, Daniel G MacArthur, Stacey B Gabriel, Mark DePristo, Shaun M Purcell, Aarno Palotie, Eric Boerwinkle, Joseph D Buxbaum, Edwin H Cook, Richard A Gibbs, Gerard D Schellenberg, James S Sutcliffe, Bernie Devlin, Kathryn Roeder, Benjamin M Neale, Mark J Daly. Nat Genet 2014
Times Cited: 521







List of co-cited articles
688 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
67

The mutational constraint spectrum quantified from variation in 141,456 humans.
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum,[...]. Nature 2020
28

The contribution of de novo coding mutations to autism spectrum disorder.
Ivan Iossifov, Brian J O'Roak, Stephan J Sanders, Michael Ronemus, Niklas Krumm, Dan Levy, Holly A Stessman, Kali T Witherspoon, Laura Vives, Karynne E Patterson,[...]. Nature 2014
27


ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
19

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
Aaron McKenna, Matthew Hanna, Eric Banks, Andrey Sivachenko, Kristian Cibulskis, Andrew Kernytsky, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark Daly,[...]. Genome Res 2010
19

Synaptic, transcriptional and chromatin genes disrupted in autism.
Silvia De Rubeis, Xin He, Arthur P Goldberg, Christopher S Poultney, Kaitlin Samocha, A Erucment Cicek, Yan Kou, Li Liu, Menachem Fromer, Susan Walker,[...]. Nature 2014
18

Genic intolerance to functional variation and the interpretation of personal genomes.
Slavé Petrovski, Quanli Wang, Erin L Heinzen, Andrew S Allen, David B Goldstein. PLoS Genet 2013
566
17

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
17

The Ensembl Variant Effect Predictor.
William McLaren, Laurent Gil, Sarah E Hunt, Harpreet Singh Riat, Graham R S Ritchie, Anja Thormann, Paul Flicek, Fiona Cunningham. Genome Biol 2016
16

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
F Kyle Satterstrom, Jack A Kosmicki, Jiebiao Wang, Michael S Breen, Silvia De Rubeis, Joon-Yong An, Minshi Peng, Ryan Collins, Jakob Grove, Lambertus Klei,[...]. Cell 2020
369
16

A global reference for human genetic variation.
Adam Auton, Lisa D Brooks, Richard M Durbin, Erik P Garrison, Hyun Min Kang, Jan O Korbel, Jonathan L Marchini, Shane McCarthy, Gil A McVean, Gonçalo R Abecasis. Nature 2015
15


Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
Stephan J Sanders, Xin He, A Jeremy Willsey, A Gulhan Ercan-Sencicek, Kaitlin E Samocha, A Ercument Cicek, Michael T Murtha, Vanessa H Bal, Somer L Bishop, Shan Dong,[...]. Neuron 2015
624
14

A general framework for estimating the relative pathogenicity of human genetic variants.
Martin Kircher, Daniela M Witten, Preti Jain, Brian J O'Roak, Gregory M Cooper, Jay Shendure. Nat Genet 2014
14

Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
Jack A Kosmicki, Kaitlin E Samocha, Daniel P Howrigan, Stephan J Sanders, Kamil Slowikowski, Monkol Lek, Konrad J Karczewski, David J Cutler, Bernie Devlin, Kathryn Roeder,[...]. Nat Genet 2017
161
14

ClinVar: improving access to variant interpretations and supporting evidence.
Melissa J Landrum, Jennifer M Lee, Mark Benson, Garth R Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Wonhee Jang,[...]. Nucleic Acids Res 2018
887
13

De novo mutations in schizophrenia implicate synaptic networks.
Menachem Fromer, Andrew J Pocklington, David H Kavanagh, Hywel J Williams, Sarah Dwyer, Padhraig Gormley, Lyudmila Georgieva, Elliott Rees, Priit Palta, Douglas M Ruderfer,[...]. Nature 2014
977
13

CADD: predicting the deleteriousness of variants throughout the human genome.
Philipp Rentzsch, Daniela Witten, Gregory M Cooper, Jay Shendure, Martin Kircher. Nucleic Acids Res 2019
844
13

De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
Stephan J Sanders, Michael T Murtha, Abha R Gupta, John D Murdoch, Melanie J Raubeson, A Jeremy Willsey, A Gulhan Ercan-Sencicek, Nicholas M DiLullo, Neelroop N Parikshak, Jason L Stein,[...]. Nature 2012
12

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Brian J O'Roak, Laura Vives, Santhosh Girirajan, Emre Karakoc, Niklas Krumm, Bradley P Coe, Roie Levy, Arthur Ko, Choli Lee, Joshua D Smith,[...]. Nature 2012
12

Integrated model of de novo and inherited genetic variants yields greater power to identify risk genes.
Xin He, Stephan J Sanders, Li Liu, Silvia De Rubeis, Elaine T Lim, James S Sutcliffe, Gerard D Schellenberg, Richard A Gibbs, Mark J Daly, Joseph D Buxbaum,[...]. PLoS Genet 2013
132
12

Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual disability.
Stefan H Lelieveld, Margot R F Reijnders, Rolph Pfundt, Helger G Yntema, Erik-Jan Kamsteeg, Petra de Vries, Bert B A de Vries, Marjolein H Willemsen, Tjitske Kleefstra, Katharina Löhner,[...]. Nat Neurosci 2016
221
12

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.
Giulio Genovese, Menachem Fromer, Eli A Stahl, Douglas M Ruderfer, Kimberly Chambert, Mikael Landén, Jennifer L Moran, Shaun M Purcell, Pamela Sklar, Patrick F Sullivan,[...]. Nat Neurosci 2016
217
12

Genetic effects on gene expression across human tissues.
Alexis Battle, Christopher D Brown, Barbara E Engelhardt, Stephen B Montgomery. Nature 2017
12

A method and server for predicting damaging missense mutations.
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
11

Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Benjamin M Neale, Yan Kou, Li Liu, Avi Ma'ayan, Kaitlin E Samocha, Aniko Sabo, Chiao-Feng Lin, Christine Stevens, Li-San Wang, Vladimir Makarov,[...]. Nature 2012
11

Interpreting de novo Variation in Human Disease Using denovolyzeR.
James S Ware, Kaitlin E Samocha, Jason Homsy, Mark J Daly. Curr Protoc Hum Genet 2015
54
20

De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies.
Jason Homsy, Samir Zaidi, Yufeng Shen, James S Ware, Kaitlin E Samocha, Konrad J Karczewski, Steven R DePalma, David McKean, Hiroko Wakimoto, Josh Gorham,[...]. Science 2015
349
11

Spatio-temporal transcriptome of the human brain.
Hyo Jung Kang, Yuka Imamura Kawasawa, Feng Cheng, Ying Zhu, Xuming Xu, Mingfeng Li, André M M Sousa, Mihovil Pletikos, Kyle A Meyer, Goran Sedmak,[...]. Nature 2011
10

A map of constrained coding regions in the human genome.
James M Havrilla, Brent S Pedersen, Ryan M Layer, Aaron R Quinlan. Nat Genet 2019
77
12

denovo-db: a compendium of human de novo variants.
Tychele N Turner, Qian Yi, Niklas Krumm, John Huddleston, Kendra Hoekzema, Holly A F Stessman, Anna-Lisa Doebley, Raphael A Bernier, Deborah A Nickerson, Evan E Eichler. Nucleic Acids Res 2017
92
10

De novo variants in neurodevelopmental disorders with epilepsy.
Henrike O Heyne, Tarjinder Singh, Hannah Stamberger, Rami Abou Jamra, Hande Caglayan, Dana Craiu, Peter De Jonghe, Renzo Guerrini, Katherine L Helbig, Bobby P C Koeleman,[...]. Nat Genet 2018
107
10

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Sheng Chih Jin, Jason Homsy, Samir Zaidi, Qiongshi Lu, Sarah Morton, Steven R DePalma, Xue Zeng, Hongjian Qi, Weni Chang, Michael C Sierant,[...]. Nat Genet 2017
289
10

The contribution of rare variants to risk of schizophrenia in individuals with and without intellectual disability.
Tarjinder Singh, James T R Walters, Mandy Johnstone, David Curtis, Jaana Suvisaari, Minna Torniainen, Elliott Rees, Conrad Iyegbe, Douglas Blackwood, Andrew M McIntosh,[...]. Nat Genet 2017
88
11

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline.
Geraldine A Van der Auwera, Mauricio O Carneiro, Christopher Hartl, Ryan Poplin, Guillermo Del Angel, Ami Levy-Moonshine, Tadeusz Jordan, Khalid Shakir, David Roazen, Joel Thibault,[...]. Curr Protoc Bioinformatics 2013
9

Excess of rare, inherited truncating mutations in autism.
Niklas Krumm, Tychele N Turner, Carl Baker, Laura Vives, Kiana Mohajeri, Kali Witherspoon, Archana Raja, Bradley P Coe, Holly A Stessman, Zong-Xiao He,[...]. Nat Genet 2015
285
9

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
Nilah M Ioannidis, Joseph H Rothstein, Vikas Pejaver, Sumit Middha, Shannon K McDonnell, Saurabh Baheti, Anthony Musolf, Qing Li, Emily Holzinger, Danielle Karyadi,[...]. Am J Hum Genet 2016
518
9

Neurodevelopmental disease genes implicated by de novo mutation and copy number variation morbidity.
Bradley P Coe, Holly A F Stessman, Arvis Sulovari, Madeleine R Geisheker, Trygve E Bakken, Allison M Lake, Joseph D Dougherty, Ed S Lein, Fereydoun Hormozdiari, Raphael A Bernier,[...]. Nat Genet 2019
99
9

Robust relationship inference in genome-wide association studies.
Ani Manichaikul, Josyf C Mychaleckyj, Stephen S Rich, Kathy Daly, Michèle Sale, Wei-Min Chen. Bioinformatics 2010
892
9

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.
Nara Sobreira, François Schiettecatte, David Valle, Ada Hamosh. Hum Mutat 2015
610
9

The Sequence Alignment/Map format and SAMtools.
Heng Li, Bob Handsaker, Alec Wysoker, Tim Fennell, Jue Ruan, Nils Homer, Gabor Marth, Goncalo Abecasis, Richard Durbin. Bioinformatics 2009
8

Genomic Patterns of De Novo Mutation in Simplex Autism.
Tychele N Turner, Bradley P Coe, Diane E Dickel, Kendra Hoekzema, Bradley J Nelson, Michael C Zody, Zev N Kronenberg, Fereydoun Hormozdiari, Archana Raja, Len A Pennacchio,[...]. Cell 2017
141
8

Parental influence on human germline de novo mutations in 1,548 trios from Iceland.
Hákon Jónsson, Patrick Sulem, Birte Kehr, Snaedis Kristmundsdottir, Florian Zink, Eirikur Hjartarson, Marteinn T Hardarson, Kristjan E Hjorleifsson, Hannes P Eggertsson, Sigurjon Axel Gudjonsson,[...]. Nature 2017
145
8

De novo mutations in epileptic encephalopathies.
Andrew S Allen, Samuel F Berkovic, Patrick Cossette, Norman Delanty, Dennis Dlugos, Evan E Eichler, Michael P Epstein, Tracy Glauser, David B Goldstein, Yujun Han,[...]. Nature 2013
925
8

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Dalila Pinto, Elsa Delaby, Daniele Merico, Mafalda Barbosa, Alison Merikangas, Lambertus Klei, Bhooma Thiruvahindrapuram, Xiao Xu, Robert Ziman, Zhuozhi Wang,[...]. Am J Hum Genet 2014
529
8

Integrative genomics viewer.
James T Robinson, Helga Thorvaldsdóttir, Wendy Winckler, Mitchell Guttman, Eric S Lander, Gad Getz, Jill P Mesirov. Nat Biotechnol 2011
8

Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
Antonio F Pardiñas, Peter Holmans, Andrew J Pocklington, Valentina Escott-Price, Stephan Ripke, Noa Carrera, Sophie E Legge, Sophie Bishop, Darren Cameron, Marian L Hamshere,[...]. Nat Genet 2018
543
8


ClinGen--the Clinical Genome Resource.
Heidi L Rehm, Jonathan S Berg, Lisa D Brooks, Carlos D Bustamante, James P Evans, Melissa J Landrum, David H Ledbetter, Donna R Maglott, Christa Lese Martin, Robert L Nussbaum,[...]. N Engl J Med 2015
502
8


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.