A citation-based method for searching scientific literature

Bradley P Coe, Kali Witherspoon, Jill A Rosenfeld, Bregje W M van Bon, Anneke T Vulto-van Silfhout, Paolo Bosco, Kathryn L Friend, Carl Baker, Serafino Buono, Lisenka E L M Vissers, Janneke H Schuurs-Hoeijmakers, Alex Hoischen, Rolph Pfundt, Nik Krumm, Gemma L Carvill, Deana Li, David Amaral, Natasha Brown, Paul J Lockhart, Ingrid E Scheffer, Antonino Alberti, Marie Shaw, Rosa Pettinato, Raymond Tervo, Nicole de Leeuw, Margot R F Reijnders, Beth S Torchia, Hilde Peeters, Brian J O'Roak, Marco Fichera, Jayne Y Hehir-Kwa, Jay Shendure, Heather C Mefford, Eric Haan, Jozef Gécz, Bert B A de Vries, Corrado Romano, Evan E Eichler. Nat Genet 2014
Times Cited: 316







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



Times Cited
  Times     Co-cited
Similarity


A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.
L R Osborne, M Li, B Pober, D Chitayat, J Bodurtha, A Mandel, T Costa, T Grebe, S Cox, L C Tsui,[...]. Nat Genet 2001
216
4

A structural variation reference for medical and population genetics.
Ryan L Collins, Harrison Brand, Konrad J Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C Francioli, Amit V Khera, Chelsea Lowther, Laura D Gauthier, Harold Wang,[...]. Nature 2020
101
4

Deep sequencing reveals 50 novel genes for recessive cognitive disorders.
Hossein Najmabadi, Hao Hu, Masoud Garshasbi, Tomasz Zemojtel, Seyedeh Sedigheh Abedini, Wei Chen, Masoumeh Hosseini, Farkhondeh Behjati, Stefan Haas, Payman Jamali,[...]. Nature 2011
564
4

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.
Douglas M Ruderfer, Tymor Hamamsy, Monkol Lek, Konrad J Karczewski, David Kavanagh, Kaitlin E Samocha, Mark J Daly, Daniel G MacArthur, Menachem Fromer, Shaun M Purcell. Nat Genet 2016
107
4

Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources.
Da Wei Huang, Brad T Sherman, Richard A Lempicki. Nat Protoc 2009
4

Genome-wide association analysis identifies 13 new risk loci for schizophrenia.
Stephan Ripke, Colm O'Dushlaine, Kimberly Chambert, Jennifer L Moran, Anna K Kähler, Susanne Akterin, Sarah E Bergen, Ann L Collins, James J Crowley, Menachem Fromer,[...]. Nat Genet 2013
978
3

Rare loss-of-function variants in SETD1A are associated with schizophrenia and developmental disorders.
Tarjinder Singh, Mitja I Kurki, David Curtis, Shaun M Purcell, Lucy Crooks, Jeremy McRae, Jaana Suvisaari, Himanshu Chheda, Douglas Blackwood, Gerome Breen,[...]. Nat Neurosci 2016
209
3



Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.
Ellaine Carvalho, Rachel Honjo, Monize Magalhães, Guilherme Yamamoto, Katia Rocha, Michel Naslavsky, Mayana Zatz, Maria Rita Passos-Bueno, Chong Kim, Debora Bertola. Am J Med Genet A 2015
14
21

Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.
Akihito Takeuchi, Nobuhiko Okamoto, Shoko Fujinaga, Hirosuke Morita, Junya Shimizu, Tomoyuki Akiyama, Shinsuke Ninomiya, Jun-ichi Takanashi, Toshihide Kubo. Eur J Med Genet 2015
15
20

Clinical significance of de novo and inherited copy-number variation.
Anneke T Vulto-van Silfhout, Jayne Y Hehir-Kwa, Bregje W M van Bon, Janneke H M Schuurs-Hoeijmakers, Stephen Meader, Claudia J M Hellebrekers, Ilse J M Thoonen, Arjan P M de Brouwer, Han G Brunner, Caleb Webber,[...]. Hum Mutat 2013
73
4

Characterising and predicting haploinsufficiency in the human genome.
Ni Huang, Insuk Lee, Edward M Marcotte, Matthew E Hurles. PLoS Genet 2010
404
3

Genomic diagnosis for children with intellectual disability and/or developmental delay.
Kevin M Bowling, Michelle L Thompson, Michelle D Amaral, Candice R Finnila, Susan M Hiatt, Krysta L Engel, J Nicholas Cochran, Kyle B Brothers, Kelly M East, David E Gray,[...]. Genome Med 2017
85
3

Polygenic transmission disequilibrium confirms that common and rare variation act additively to create risk for autism spectrum disorders.
Daniel J Weiner, Emilie M Wigdor, Stephan Ripke, Raymond K Walters, Jack A Kosmicki, Jakob Grove, Kaitlin E Samocha, Jacqueline I Goldstein, Aysu Okbay, Jonas Bybjerg-Grauholm,[...]. Nat Genet 2017
180
3

Rare de novo variants associated with autism implicate a large functional network of genes involved in formation and function of synapses.
Sarah R Gilman, Ivan Iossifov, Dan Levy, Michael Ronemus, Michael Wigler, Dennis Vitkup. Neuron 2011
425
3

A higher mutational burden in females supports a "female protective model" in neurodevelopmental disorders.
Sébastien Jacquemont, Bradley P Coe, Micha Hersch, Michael H Duyzend, Niklas Krumm, Sven Bergmann, Jacques S Beckmann, Jill A Rosenfeld, Evan E Eichler. Am J Hum Genet 2014
247
3

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.
Ruxandra Bachmann-Gagescu, Heather C Mefford, Charles Cowan, Gwen M Glew, Anne V Hing, Stephanie Wallace, Patricia I Bader, Aline Hamati, Pamela J Reitnauer, Rosemarie Smith,[...]. Genet Med 2010
119
3

Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations.
Brian J O'Roak, Pelagia Deriziotis, Choli Lee, Laura Vives, Jerrod J Schwartz, Santhosh Girirajan, Emre Karakoc, Alexandra P Mackenzie, Sarah B Ng, Carl Baker,[...]. Nat Genet 2011
754
3

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
268
3

Recurrent 16p11.2 microdeletions in autism.
Ravinesh A Kumar, Samer KaraMohamed, Jyotsna Sudi, Donald F Conrad, Camille Brune, Judith A Badner, T Conrad Gilliam, Norma J Nowak, Edwin H Cook, William B Dobyns,[...]. Hum Mol Genet 2008
461
3

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
128
3

Cell type-specific expression analysis to identify putative cellular mechanisms for neurogenetic disorders.
Xiaoxiao Xu, Alan B Wells, David R O'Brien, Arye Nehorai, Joseph D Dougherty. J Neurosci 2014
121
3

Modest impact on risk for autism spectrum disorder of rare copy number variants at 15q11.2, specifically breakpoints 1 to 2.
Pauline Chaste, Stephan J Sanders, Kommu N Mohan, Lambertus Klei, Youeun Song, Michael T Murtha, Vanessa Hus, Jennifer K Lowe, A Jeremy Willsey, Daniel Moreno-De-Luca,[...]. Autism Res 2014
44
6

CNVs in neuropsychiatric disorders.
George Kirov. Hum Mol Genet 2015
75
4

Clinical variability of the 22q11.2 duplication syndrome.
Christian Wentzel, Maria Fernström, Ylva Ohrner, Göran Annerén, Ann-Charlotte Thuresson. Eur J Med Genet 2008
109
3

A de novo paradigm for mental retardation.
Lisenka E L M Vissers, Joep de Ligt, Christian Gilissen, Irene Janssen, Marloes Steehouwer, Petra de Vries, Bart van Lier, Peer Arts, Nienke Wieskamp, Marisol del Rosario,[...]. Nat Genet 2010
540
3


The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Claire Redin, Harrison Brand, Ryan L Collins, Tammy Kammin, Elyse Mitchell, Jennelle C Hodge, Carrie Hanscom, Vamsee Pillalamarri, Catarina M Seabra, Mary-Alice Abbott,[...]. Nat Genet 2017
123
3

Evolution and diversity of copy number variation in the great ape lineage.
Peter H Sudmant, John Huddleston, Claudia R Catacchio, Maika Malig, Ladeana W Hillier, Carl Baker, Kiana Mohajeri, Ivanela Kondova, Ronald E Bontrop, Stephan Persengiev,[...]. Genome Res 2013
82
3

A 3D map of the human genome at kilobase resolution reveals principles of chromatin looping.
Suhas S P Rao, Miriam H Huntley, Neva C Durand, Elena K Stamenova, Ivan D Bochkov, James T Robinson, Adrian L Sanborn, Ido Machol, Arina D Omer, Eric S Lander,[...]. Cell 2014
3

Formation of new chromatin domains determines pathogenicity of genomic duplications.
Martin Franke, Daniel M Ibrahim, Guillaume Andrey, Wibke Schwarzer, Verena Heinrich, Robert Schöpflin, Katerina Kraft, Rieke Kempfer, Ivana Jerković, Wing-Lee Chan,[...]. Nature 2016
281
3

Measuring and Estimating the Effect Sizes of Copy Number Variants on General Intelligence in Community-Based Samples.
Guillaume Huguet, Catherine Schramm, Elise Douard, Lai Jiang, Aurélie Labbe, Frédérique Tihy, Géraldine Mathonnet, Sonia Nizard, Emmanuelle Lemyre, Alexandre Mathieu,[...]. JAMA Psychiatry 2018
35
8

Structural variation in the human genome.
Lars Feuk, Andrew R Carson, Stephen W Scherer. Nat Rev Genet 2006
3

Estimates of penetrance for recurrent pathogenic copy-number variations.
Jill A Rosenfeld, Bradley P Coe, Evan E Eichler, Howard Cuckle, Lisa G Shaffer. Genet Med 2013
183
3

Research review: Polygenic methods and their application to psychiatric traits.
Naomi R Wray, Sang Hong Lee, Divya Mehta, Anna A E Vinkhuyzen, Frank Dudbridge, Christel M Middeldorp. J Child Psychol Psychiatry 2014
301
3

Changing interpretation of chromosomal microarray over time in a community cohort with intellectual disability.
Emma Palmer, Helen Speirs, Peter J Taylor, Glenda Mullan, Gill Turner, Stewart Einfeld, Bruce Tonge, David Mowat. Am J Med Genet A 2014
30
10


Microarrays in prenatal diagnosis.
Beatrice Oneda, Anita Rauch. Best Pract Res Clin Obstet Gynaecol 2017
20
15

Common variation near ROBO2 is associated with expressive vocabulary in infancy.
Beate St Pourcain, Rolieke A M Cents, Andrew J O Whitehouse, Claire M A Haworth, Oliver S P Davis, Paul F O'Reilly, Susan Roulstone, Yvonne Wren, Qi W Ang, Fleur P Velders,[...]. Nat Commun 2014
41
7

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
838
3

Genome-wide association analyses identify 44 risk variants and refine the genetic architecture of major depression.
Naomi R Wray, Stephan Ripke, Manuel Mattheisen, Maciej Trzaskowski, Enda M Byrne, Abdel Abdellaoui, Mark J Adams, Esben Agerbo, Tracy M Air, Till M F Andlauer,[...]. Nat Genet 2018
826
3

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
173
3

ToppGene Suite for gene list enrichment analysis and candidate gene prioritization.
Jing Chen, Eric E Bardes, Bruce J Aronow, Anil G Jegga. Nucleic Acids Res 2009
3

Most genetic risk for autism resides with common variation.
Trent Gaugler, Lambertus Klei, Stephan J Sanders, Corneliu A Bodea, Arthur P Goldberg, Ann B Lee, Milind Mahajan, Dina Manaa, Yudi Pawitan, Jennifer Reichert,[...]. Nat Genet 2014
530
3

Genotype to phenotype relationships in autism spectrum disorders.
Jonathan Chang, Sarah R Gilman, Andrew H Chiang, Stephan J Sanders, Dennis Vitkup. Nat Neurosci 2015
103
3

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
S Ben-Shachar, B Lanpher, J R German, M Qasaymeh, L Potocki, S C Sreenath Nagamani, L M Franco, A Malphrus, G W Bottenfield, J E Spence,[...]. J Med Genet 2009
158
3

Genome structural variation discovery and genotyping.
Can Alkan, Bradley P Coe, Evan E Eichler. Nat Rev Genet 2011
729
3

A 5.3Mb deletion in chromosome 18q12.3 as the smallest region of overlap in two patients with expressive speech delay.
Sonia Bouquillon, Joris Andrieux, Emilie Landais, Bénédicte Duban-Bedu, Françoise Boidein, Bruno Lenne, Louis Vallée, Teresinha Leal, Martine Doco-Fenzy, Bruno Delobel. Eur J Med Genet 2011
17
17

Subtelomeric deletion of chromosome 10p15.3: clinical findings and molecular cytogenetic characterization.
Cheryl DeScipio, Laura Conlin, Jill Rosenfeld, James Tepperberg, Romela Pasion, Ankita Patel, Marie T McDonald, Swaroop Aradhya, Darlene Ho, Jennifer Goldstein,[...]. Am J Med Genet A 2012
29
10


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.