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


Phenotype comparison confirms ZMYND11 as a critical gene for 10p15.3 microdeletion syndrome.
Birute Tumiene, Ž Čiuladaitė, E Preikšaitienė, R Mameniškienė, A Utkus, V Kučinskas. J Appl Genet 2017
8
37

A de novo missense mutation in ZMYND11 is associated with global developmental delay, seizures, and hypotonia.
Abby M Moskowitz, Newell Belnap, Ashley L Siniard, Szabolcs Szelinger, Ana M Claasen, Ryan F Richholt, Matt De Both, Jason J Corneveaux, Chris Balak, Ignazio S Piras,[...]. Cold Spring Harb Mol Case Stud 2016
9
33

When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations.
Idit Maya, Reuven Sharony, Shiri Yacobson, Sarit Kahana, Josepha Yeshaya, Tamar Tenne, Ifaat Agmon-Fishman, Lital Cohen-Vig, Yael Goldberg, Racheli Berger,[...]. Genet Med 2018
27
11

Chromosomal microarray vs. NIPS: analysis of 5541 low-risk pregnancies.
Lena Sagi-Dain, Lital Cohen Vig, Sarit Kahana, Shiri Yacobson, Tamar Tenne, Ifat Agmon-Fishman, Cochava Klein, Reut Matar, Lina Basel-Salmon, Idit Maya. Genet Med 2019
31
9

Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia.
Tom Walsh, Jon M McClellan, Shane E McCarthy, Anjené M Addington, Sarah B Pierce, Greg M Cooper, Alex S Nord, Mary Kusenda, Dheeraj Malhotra, Abhishek Bhandari,[...]. Science 2008
3

Clinical phenotype of the recurrent 1q21.1 copy-number variant.
Raphael Bernier, Kyle J Steinman, Beau Reilly, Arianne Stevens Wallace, Elliott H Sherr, Nicholas Pojman, Heather C Mefford, Jennifer Gerdts, Rachel Earl, Ellen Hanson,[...]. Genet Med 2016
73
4

Copy number variation in bipolar disorder.
E K Green, E Rees, J T R Walters, K-G Smith, L Forty, D Grozeva, J L Moran, P Sklar, S Ripke, K D Chambert,[...]. Mol Psychiatry 2016
91
3

Structural variation of chromosomes in autism spectrum disorder.
Christian R Marshall, Abdul Noor, John B Vincent, Anath C Lionel, Lars Feuk, Jennifer Skaug, Mary Shago, Rainald Moessner, Dalila Pinto, Yan Ren,[...]. Am J Hum Genet 2008
3

Enrichment of rare copy number variation in children with developmental language disorder.
N Kalnak, S Stamouli, M Peyrard-Janvid, I Rabkina, M Becker, T Klingberg, J Kere, H Forssberg, K Tammimies. Clin Genet 2018
9
33

Genome-wide analysis identifies a role for common copy number variants in specific language impairment.
Nuala H Simpson, Fabiola Ceroni, Rose H Reader, Laura E Covill, Julian C Knight, Elizabeth R Hennessy, Patrick F Bolton, Gina Conti-Ramsden, Anne O'Hare, Gillian Baird,[...]. Eur J Hum Genet 2015
28
10

Genome-wide association study identifies 30 loci associated with bipolar disorder.
Eli A Stahl, Gerome Breen, Andreas J Forstner, Andrew McQuillin, Stephan Ripke, Vassily Trubetskoy, Manuel Mattheisen, Yunpeng Wang, Jonathan R I Coleman, Héléna A Gaspar,[...]. Nat Genet 2019
391
3

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
99
3

Enrichr: a comprehensive gene set enrichment analysis web server 2016 update.
Maxim V Kuleshov, Matthew R Jones, Andrew D Rouillard, Nicolas F Fernandez, Qiaonan Duan, Zichen Wang, Simon Koplev, Sherry L Jenkins, Kathleen M Jagodnik, Alexander Lachmann,[...]. Nucleic Acids Res 2016
3

Autism genome-wide copy number variation reveals ubiquitin and neuronal genes.
Joseph T Glessner, Kai Wang, Guiqing Cai, Olena Korvatska, Cecilia E Kim, Shawn Wood, Haitao Zhang, Annette Estes, Camille W Brune, Jonathan P Bradfield,[...]. Nature 2009
919
3

Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.
Rocco Piazza, Simona Valletta, Nils Winkelmann, Sara Redaelli, Roberta Spinelli, Alessandra Pirola, Laura Antolini, Luca Mologni, Carla Donadoni, Elli Papaemmanuil,[...]. Nat Genet 2013
239
3

SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub.
Rocco Piazza, Vera Magistroni, Sara Redaelli, Mario Mauri, Luca Massimino, Alessandro Sessa, Marco Peronaci, Maciej Lalowski, Rabah Soliymani, Caterina Mezzatesta,[...]. Nat Commun 2018
18
16

Understanding variable expressivity in microdeletion syndromes.
Joris A Veltman, Han G Brunner. Nat Genet 2010
48
6

Genomic inversions and GOLGA core duplicons underlie disease instability at the 15q25 locus.
Flavia A M Maggiolini, Stuart Cantsilieris, Pietro D'Addabbo, Michele Manganelli, Bradley P Coe, Beth L Dumont, Ashley D Sanders, Andy Wing Chun Pang, Mitchell R Vollger, Orazio Palumbo,[...]. PLoS Genet 2019
6
50

DELLY: structural variant discovery by integrated paired-end and split-read analysis.
Tobias Rausch, Thomas Zichner, Andreas Schlattl, Adrian M Stütz, Vladimir Benes, Jan O Korbel. Bioinformatics 2012
786
3

Characterization of six human disease-associated inversion polymorphisms.
Francesca Antonacci, Jeffrey M Kidd, Tomas Marques-Bonet, Mario Ventura, Priscillia Siswara, Zhaoshi Jiang, Evan E Eichler. Hum Mol Genet 2009
80
3

Evolutionary toggling of the MAPT 17q21.31 inversion region.
Michael C Zody, Zhaoshi Jiang, Hon-Chung Fung, Francesca Antonacci, LaDeana W Hillier, Maria Francesca Cardone, Tina A Graves, Jeffrey M Kidd, Ze Cheng, Amr Abouelleil,[...]. Nat Genet 2008
119
3

Mapping and sequencing of structural variation from eight human genomes.
Jeffrey M Kidd, Gregory M Cooper, William F Donahue, Hillary S Hayden, Nick Sampas, Tina Graves, Nancy Hansen, Brian Teague, Can Alkan, Francesca Antonacci,[...]. Nature 2008
765
3

Population analysis of large copy number variants and hotspots of human genetic disease.
Andy Itsara, Gregory M Cooper, Carl Baker, Santhosh Girirajan, Jun Li, Devin Absher, Ronald M Krauss, Richard M Myers, Paul M Ridker, Daniel I Chasman,[...]. Am J Hum Genet 2009
415
3


Structural variation in the 3D genome.
Malte Spielmann, Darío G Lupiáñez, Stefan Mundlos. Nat Rev Genet 2018
160
3

Evolutionary and functional impact of common polymorphic inversions in the human genome.
Carla Giner-Delgado, Sergi Villatoro, Jon Lerga-Jaso, Magdalena Gayà-Vidal, Meritxell Oliva, David Castellano, Lorena Pantano, Bárbara D Bitarello, David Izquierdo, Isaac Noguera,[...]. Nat Commun 2019
11
27

Multi-platform discovery of haplotype-resolved structural variation in human genomes.
Mark J P Chaisson, Ashley D Sanders, Xuefang Zhao, Ankit Malhotra, David Porubsky, Tobias Rausch, Eugene J Gardner, Oscar L Rodriguez, Li Guo, Ryan L Collins,[...]. Nat Commun 2019
205
3

Effects of pathogenic CNVs on physical traits in participants of the UK Biobank.
David Owen, Mathew Bracher-Smith, Kimberley M Kendall, Elliott Rees, Mark Einon, Valentina Escott-Price, Michael J Owen, Michael C O'Donovan, George Kirov. BMC Genomics 2018
14
21

Recurrent de novo mutations in neurodevelopmental disorders: properties and clinical implications.
Amy B Wilfert, Arvis Sulovari, Tychele N Turner, Bradley P Coe, Evan E Eichler. Genome Med 2017
52
5


The genetic landscapes of autism spectrum disorders.
Guillaume Huguet, Elodie Ey, Thomas Bourgeron. Annu Rev Genomics Hum Genet 2013
228
3

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
254
3

The 22q11 low copy repeats are characterized by unprecedented size and structural variability.
Wolfram Demaerel, Yulia Mostovoy, Feyza Yilmaz, Lisanne Vervoort, Steven Pastor, Matthew S Hestand, Ann Swillen, Elfi Vergaelen, Elizabeth A Geiger, Curtis R Coughlin,[...]. Genome Res 2019
14
21

Autistic and psychiatric findings associated with the 3q29 microdeletion syndrome: case report and review.
Fabiola Quintero-Rivera, Pantea Sharifi-Hannauer, Julian A Martinez-Agosto. Am J Med Genet A 2010
63
4

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
3

Human copy number variation and complex genetic disease.
Santhosh Girirajan, Catarina D Campbell, Evan E Eichler. Annu Rev Genet 2011
207
3

Severe childhood speech disorder: Gene discovery highlights transcriptional dysregulation.
Michael S Hildebrand, Victoria E Jackson, Thomas S Scerri, Olivia Van Reyk, Matthew Coleman, Ruth O Braden, Samantha Turner, Kristin A Rigbye, Amber Boys, Sarah Barton,[...]. Neurology 2020
12
25

Schizophrenia as a complex trait: evidence from a meta-analysis of twin studies.
Patrick F Sullivan, Kenneth S Kendler, Michael C Neale. Arch Gen Psychiatry 2003
2


Improved whole-chromosome phasing for disease and population genetic studies.
Olivier Delaneau, Jean-Francois Zagury, Jonathan Marchini. Nat Methods 2013
737
2

Genomic control for association studies.
B Devlin, K Roeder. Biometrics 1999
2

Common polygenic variation contributes to risk of schizophrenia and bipolar disorder.
Shaun M Purcell, Naomi R Wray, Jennifer L Stone, Peter M Visscher, Michael C O'Donovan, Patrick F Sullivan, Pamela Sklar. Nature 2009
2

Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands.
Ron Hochstenbach, Ellen van Binsbergen, John Engelen, Aggie Nieuwint, Abeltje Polstra, Pino Poddighe, Claudia Ruivenkamp, Birgit Sikkema-Raddatz, Dominique Smeets, Martin Poot. Eur J Med Genet 2009
123
2

Characterization of a recurrent 15q24 microdeletion syndrome.
Andrew J Sharp, Rebecca R Selzer, Joris A Veltman, Stefania Gimelli, Giorgio Gimelli, Pasquale Striano, Antonietta Coppola, Regina Regan, Sue M Price, Nine V Knoers,[...]. Hum Mol Genet 2007
136
2


Further clinical and molecular delineation of the 15q24 microdeletion syndrome.
Heather C Mefford, Jill A Rosenfeld, Natasha Shur, Anne M Slavotinek, Victoria A Cox, Raoul C Hennekam, Helen V Firth, Lionel Willatt, Patricia Wheeler, Eric M Morrow,[...]. J Med Genet 2012
29
6

CTCF: master weaver of the genome.
Jennifer E Phillips, Victor G Corces. Cell 2009
2

STAG1 mutations cause a novel cohesinopathy characterised by unspecific syndromic intellectual disability.
Daphné Lehalle, Anne-Laure Mosca-Boidron, Amber Begtrup, Odile Boute-Benejean, Perrine Charles, Megan T Cho, Amanda Clarkson, Orrin Devinsky, Yannis Duffourd, Laurence Duplomb-Jego,[...]. J Med Genet 2017
17
11

Enhancer biology and enhanceropathies.
Edwin Smith, Ali Shilatifard. Nat Struct Mol Biol 2014
156
2

Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia.
Asli Sirmaci, Michail Spiliopoulos, Francesco Brancati, Eric Powell, Duygu Duman, Alex Abrams, Guney Bademci, Emanuele Agolini, Shengru Guo, Berrin Konuk,[...]. Am J Hum Genet 2011
137
2


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.