A citation-based method for searching scientific literature

Joanna Kaplanis, Kaitlin E Samocha, Laurens Wiel, Zhancheng Zhang, Kevin J Arvai, Ruth Y Eberhardt, Giuseppe Gallone, Stefan H Lelieveld, Hilary C Martin, Jeremy F McRae, Patrick J Short, Rebecca I Torene, Elke de Boer, Petr Danecek, Eugene J Gardner, Ni Huang, Jenny Lord, Iñigo Martincorena, Rolph Pfundt, Margot R F Reijnders, Alison Yeung, Helger G Yntema, Lisenka E L M Vissers, Jane Juusola, Caroline F Wright, Han G Brunner, Helen V Firth, David R FitzPatrick, Jeffrey C Barrett, Matthew E Hurles, Christian Gilissen, Kyle Retterer. Nature 2020
Times Cited: 25







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



Times Cited
  Times     Co-cited
Similarity



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
273
36

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
552
32

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
973
32

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
24

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
84
24

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
20

Quantifying the contribution of recessive coding variation to developmental disorders.
Hilary C Martin, Wendy D Jones, Rebecca McIntyre, Gabriela Sanchez-Andrade, Mark Sanderson, James D Stephenson, Carla P Jones, Juliet Handsaker, Giuseppe Gallone, Michaela Bruntraeger,[...]. Science 2018
52
20

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
211
20

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
Helen V Firth, Shola M Richards, A Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M Pettett, Nigel P Carter. Am J Hum Genet 2009
889
20

Spatiotemporal gene expression trajectories reveal developmental hierarchies of the human cortex.
Tomasz J Nowakowski, Aparna Bhaduri, Alex A Pollen, Beatriz Alvarado, Mohammed A Mostajo-Radji, Elizabeth Di Lullo, Maximilian Haeussler, Carmen Sandoval-Espinosa, Siyuan John Liu, Dmitry Velmeshev,[...]. Science 2017
259
16

Genetic studies in intellectual disability and related disorders.
Lisenka E L M Vissers, Christian Gilissen, Joris A Veltman. Nat Rev Genet 2016
303
16


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
16

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
A Jeremy Willsey, Stephan J Sanders, Mingfeng Li, Shan Dong, Andrew T Tebbenkamp, Rebecca A Muhle, Steven K Reilly, Leon Lin, Sofia Fertuzinhos, Jeremy A Miller,[...]. Cell 2013
467
16

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
16

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
Natasha T Strande, Erin Rooney Riggs, Adam H Buchanan, Ozge Ceyhan-Birsoy, Marina DiStefano, Selina S Dwight, Jenny Goldstein, Rajarshi Ghosh, Bryce A Seifert, Tam P Sneddon,[...]. Am J Hum Genet 2017
175
12

Systematic Phenomics Analysis Deconvolutes Genes Mutated in Intellectual Disability into Biologically Coherent Modules.
Korinna Kochinke, Christiane Zweier, Bonnie Nijhof, Michaela Fenckova, Pavel Cizek, Frank Honti, Shivakumar Keerthikumar, Merel A W Oortveld, Tjitske Kleefstra, Jamie M Kramer,[...]. Am J Hum Genet 2016
113
12

Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders.
Hui Guo, Elisa Bettella, Paul C Marcogliese, Rongjuan Zhao, Jonathan C Andrews, Tomasz J Nowakowski, Madelyn A Gillentine, Kendra Hoekzema, Tianyun Wang, Huidan Wu,[...]. Nat Commun 2019
12
25

Clinical application of whole-exome sequencing across clinical indications.
Kyle Retterer, Jane Juusola, Megan T Cho, Patrik Vitazka, Francisca Millan, Federica Gibellini, Annette Vertino-Bell, Nizar Smaoui, Julie Neidich, Kristin G Monaghan,[...]. Genet Med 2016
414
12

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Caroline F Wright, Tomas W Fitzgerald, Wendy D Jones, Stephen Clayton, Jeremy F McRae, Margriet van Kogelenberg, Daniel A King, Kirsty Ambridge, Daniel M Barrett, Tanya Bayzetinova,[...]. Lancet 2015
354
12

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
474
12

A framework for the interpretation of de novo mutation in human disease.
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,[...]. Nat Genet 2014
497
12

Expansion of the Human Phenotype Ontology (HPO) knowledge base and resources.
Sebastian Köhler, Leigh Carmody, Nicole Vasilevsky, Julius O B Jacobsen, Daniel Danis, Jean-Philippe Gourdine, Michael Gargano, Nomi L Harris, Nicolas Matentzoglu, Julie A McMurry,[...]. Nucleic Acids Res 2019
208
12

Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism.
Neelroop N Parikshak, Rui Luo, Alice Zhang, Hyejung Won, Jennifer K Lowe, Vijayendran Chandran, Steve Horvath, Daniel H Geschwind. Cell 2013
535
12

The discovery of integrated gene networks for autism and related disorders.
Fereydoun Hormozdiari, Osnat Penn, Elhanan Borenstein, Evan E Eichler. Genome Res 2015
132
12

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Anita Rauch, Dagmar Wieczorek, Elisabeth Graf, Thomas Wieland, Sabine Endele, Thomas Schwarzmayr, Beate Albrecht, Deborah Bartholdi, Jasmin Beygo, Nataliya Di Donato,[...]. Lancet 2012
648
12

De novo mutations in regulatory elements in neurodevelopmental disorders.
Patrick J Short, Jeremy F McRae, Giuseppe Gallone, Alejandro Sifrim, Hyejung Won, Daniel H Geschwind, Caroline F Wright, Helen V Firth, David R FitzPatrick, Jeffrey C Barrett,[...]. Nature 2018
90
12

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Siddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, David H Ledbetter, Christa L Martin, Wendy K Chung, Helen V Firth, Thomas Frazier, Robin L Hansen, Lisa Prock,[...]. Genet Med 2019
86
12

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
898
12

Integrative functional genomic analysis of human brain development and neuropsychiatric risks.
Mingfeng Li, Gabriel Santpere, Yuka Imamura Kawasawa, Oleg V Evgrafov, Forrest O Gulden, Sirisha Pochareddy, Susan M Sunkin, Zhen Li, Yurae Shin, Ying Zhu,[...]. Science 2018
161
12

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
584
12

Disruptive CHD8 mutations define a subtype of autism early in development.
Raphael Bernier, Christelle Golzio, Bo Xiong, Holly A Stessman, Bradley P Coe, Osnat Penn, Kali Witherspoon, Jennifer Gerdts, Carl Baker, Anneke T Vulto-van Silfhout,[...]. Cell 2014
371
12

Inherited and De Novo Genetic Risk for Autism Impacts Shared Networks.
Elizabeth K Ruzzo, Laura Pérez-Cano, Jae-Yoon Jung, Lee-Kai Wang, Dorna Kashef-Haghighi, Chris Hartl, Chanpreet Singh, Jin Xu, Jackson N Hoekstra, Olivia Leventhal,[...]. Cell 2019
70
12

Targeted sequencing identifies 91 neurodevelopmental-disorder risk genes with autism and developmental-disability biases.
Holly A F Stessman, Bo Xiong, Bradley P Coe, Tianyun Wang, Kendra Hoekzema, Michaela Fenckova, Malin Kvarnung, Jennifer Gerdts, Sandy Trinh, Nele Cosemans,[...]. Nat Genet 2017
209
12

Molecular Diversity and Specializations among the Cells of the Adult Mouse Brain.
Arpiar Saunders, Evan Z Macosko, Alec Wysoker, Melissa Goldman, Fenna M Krienen, Heather de Rivera, Elizabeth Bien, Matthew Baum, Laura Bortolin, Shuyu Wang,[...]. Cell 2018
345
8

Regulation of cerebral cortex development by Rho GTPases: insights from in vivo studies.
Roberta Azzarelli, Thomas Kerloch, Emilie Pacary. Front Cell Neurosci 2015
25
8

RAC1 Missense Mutations in Developmental Disorders with Diverse Phenotypes.
Margot R F Reijnders, Nurhuda M Ansor, Maria Kousi, Wyatt W Yue, Perciliz L Tan, Katie Clarkson, Jill Clayton-Smith, Ken Corning, Julie R Jones, Wayne W K Lam,[...]. Am J Hum Genet 2017
49
8

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types.
Hilary K Finucane, Yakir A Reshef, Verneri Anttila, Kamil Slowikowski, Alexander Gusev, Andrea Byrnes, Steven Gazal, Po-Ru Loh, Caleb Lareau, Noam Shoresh,[...]. Nat Genet 2018
216
8

Six developmental trajectories characterize children with autism.
Christine Fountain, Alix S Winter, Peter S Bearman. Pediatrics 2012
158
8

Opposite Modulation of RAC1 by Mutations in TRIO Is Associated with Distinct, Domain-Specific Neurodevelopmental Disorders.
Sónia Barbosa, Stephanie Greville-Heygate, Maxime Bonnet, Annie Godwin, Christine Fagotto-Kaufmann, Andrey V Kajava, Damien Laouteouet, Rebecca Mawby, Htoo Aung Wai, Alexander J M Dingemans,[...]. Am J Hum Genet 2020
12
16

Discovery of four recessive developmental disorders using probabilistic genotype and phenotype matching among 4,125 families.
Nadia Akawi, Jeremy McRae, Morad Ansari, Meena Balasubramanian, Moira Blyth, Angela F Brady, Stephen Clayton, Trevor Cole, Charu Deshpande, Tomas W Fitzgerald,[...]. Nat Genet 2015
73
8

De novo mutations in moderate or severe intellectual disability.
Fadi F Hamdan, Myriam Srour, Jose-Mario Capo-Chichi, Hussein Daoud, Christina Nassif, Lysanne Patry, Christine Massicotte, Amirthagowri Ambalavanan, Dan Spiegelman, Ousmane Diallo,[...]. PLoS Genet 2014
220
8

Molecular findings among patients referred for clinical whole-exome sequencing.
Yaping Yang, Donna M Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia Ward, Alicia Braxton, Min Wang, Christian Buhay,[...]. JAMA 2014
772
8

Flexible and scalable diagnostic filtering of genomic variants using G2P with Ensembl VEP.
Anja Thormann, Mihail Halachev, William McLaren, David J Moore, Victoria Svinti, Archie Campbell, Shona M Kerr, Marc Tischkowitz, Sarah E Hunt, Malcolm G Dunlop,[...]. Nat Commun 2019
11
18

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.
Mari E K Niemi, Hilary C Martin, Daniel L Rice, Giuseppe Gallone, Scott Gordon, Martin Kelemen, Kerrie McAloney, Jeremy McRae, Elizabeth J Radford, Sui Yu,[...]. Nature 2018
94
8

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
8

DeNovoGear: de novo indel and point mutation discovery and phasing.
Avinash Ramu, Michiel J Noordam, Rachel S Schwartz, Arthur Wuster, Matthew E Hurles, Reed A Cartwright, Donald F Conrad. Nat Methods 2013
99
8

Genome-wide association meta-analysis in 269,867 individuals identifies new genetic and functional links to intelligence.
Jeanne E Savage, Philip R Jansen, Sven Stringer, Kyoko Watanabe, Julien Bryois, Christiaan A de Leeuw, Mats Nagel, Swapnil Awasthi, Peter B Barr, Jonathan R I Coleman,[...]. Nat Genet 2018
246
8

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
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.