A citation-based method for searching scientific literature

Santhosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, Tom Walsh, Shane E McCarthy, Carl Baker, Heather C Mefford, Jeffrey M Kidd, Sharon R Browning, Brian L Browning, Diane E Dickel, Deborah L Levy, Blake C Ballif, Kathryn Platky, Darren M Farber, Gordon C Gowans, Jessica J Wetherbee, Alexander Asamoah, David D Weaver, Paul R Mark, Jennifer Dickerson, Bhuwan P Garg, Sara A Ellingwood, Rosemarie Smith, Valerie C Banks, Wendy Smith, Marie T McDonald, Joe J Hoo, Beatrice N French, Cindy Hudson, John P Johnson, Jillian R Ozmore, John B Moeschler, Urvashi Surti, Luis F Escobar, Dima El-Khechen, Jerome L Gorski, Jennifer Kussmann, Bonnie Salbert, Yves Lacassie, Alisha Biser, Donna M McDonald-McGinn, Elaine H Zackai, Matthew A Deardorff, Tamim H Shaikh, Eric Haan, Kathryn L Friend, Marco Fichera, Corrado Romano, Jozef Gécz, Lynn E DeLisi, Jonathan Sebat, Mary-Claire King, Lisa G Shaffer, Evan E Eichler. Nat Genet 2010
Times Cited: 410







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



Times Cited
  Times     Co-cited
Similarity


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
520
7

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
7

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.
Sébastien Jacquemont, Alexandre Reymond, Flore Zufferey, Louise Harewood, Robin G Walters, Zoltán Kutalik, Danielle Martinet, Yiping Shen, Armand Valsesia, Noam D Beckmann,[...]. Nature 2011
259
7

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
917
7

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
7

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
7

The cognitive and behavioral phenotype of the 16p11.2 deletion in a clinically ascertained population.
Ellen Hanson, Raphael Bernier, Ken Porche, Frank I Jackson, Robin P Goin-Kochel, LeeAnne Green Snyder, Anne V Snow, Arianne Stevens Wallace, Katherine L Campe, Yuan Zhang,[...]. Biol Psychiatry 2015
124
7

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.
Christian P Schaaf, Aniko Sabo, Yasunari Sakai, Jacy Crosby, Donna Muzny, Alicia Hawes, Lora Lewis, Humeira Akbar, Robin Varghese, Eric Boerwinkle,[...]. Hum Mol Genet 2011
96
7


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
129
7

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
8

A de novo convergence of autism genetics and molecular neuroscience.
Niklas Krumm, Brian J O'Roak, Jay Shendure, Evan E Eichler. Trends Neurosci 2014
269
6

Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.
Christelle M Durand, Catalina Betancur, Tobias M Boeckers, Juergen Bockmann, Pauline Chaste, Fabien Fauchereau, Gudrun Nygren, Maria Rastam, I Carina Gillberg, Henrik Anckarsäter,[...]. Nat Genet 2007
924
6

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
6

Rate of de novo mutations and the importance of father's age to disease risk.
Augustine Kong, Michael L Frigge, Gisli Masson, Soren Besenbacher, Patrick Sulem, Gisli Magnusson, Sigurjon A Gudjonsson, Asgeir Sigurdsson, Aslaug Jonasdottir, Adalbjorg Jonasdottir,[...]. Nature 2012
6

A new highly penetrant form of obesity due to deletions on chromosome 16p11.2.
R G Walters, S Jacquemont, A Valsesia, A J de Smith, D Martinet, J Andersson, M Falchi, F Chen, J Andrieux, S Lobbens,[...]. Nature 2010
315
6

Mechanisms of change in gene copy number.
P J Hastings, James R Lupski, Susan M Rosenberg, Grzegorz Ira. Nat Rev Genet 2009
709
6

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.
E K Bijlsma, A C J Gijsbers, J H M Schuurs-Hoeijmakers, A van Haeringen, D E Fransen van de Putte, B-M Anderlid, J Lundin, P Lapunzina, L A Pérez Jurado, B Delle Chiaie,[...]. Eur J Med Genet 2009
167
6


Analysis of copy number variations at 15 schizophrenia-associated loci.
Elliott Rees, James T R Walters, Lyudmila Georgieva, Anthony R Isles, Kimberly D Chambert, Alexander L Richards, Gerwyn Mahoney-Davies, Sophie E Legge, Jennifer L Moran, Steven A McCarroll,[...]. Br J Psychiatry 2014
217
6

Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.
Reinhard Ullmann, Gillian Turner, Maria Kirchhoff, Wei Chen, Bruce Tonge, Carla Rosenberg, Michael Field, Angela M Vianna-Morgante, Louise Christie, Ana C Krepischi-Santos,[...]. Hum Mutat 2007
203
6

Structural variation in the human genome and its role in disease.
Paweł Stankiewicz, James R Lupski. Annu Rev Med 2010
666
6

Confirmation of chromosomal microarray as a first-tier clinical diagnostic test for individuals with developmental delay, intellectual disability, autism spectrum disorders and dysmorphic features.
Agatino Battaglia, Viola Doccini, Laura Bernardini, Antonio Novelli, Sara Loddo, Anna Capalbo, Tiziana Filippi, John C Carey. Eur J Paediatr Neurol 2013
113
6

Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects.
Gurdeep S Sagoo, Adam S Butterworth, Simon Sanderson, Charles Shaw-Smith, Julian P T Higgins, Hilary Burton. Genet Med 2009
143
6


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
6

An integrated map of structural variation in 2,504 human genomes.
Peter H Sudmant, Tobias Rausch, Eugene J Gardner, Robert E Handsaker, Alexej Abyzov, John Huddleston, Yan Zhang, Kai Ye, Goo Jun, Markus Hsi-Yang Fritz,[...]. Nature 2015
903
6

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
6

Diagnostic exome sequencing in persons with severe intellectual disability.
Joep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, Tjitske Kleefstra, Helger G Yntema, Thessa Kroes, Anneke T Vulto-van Silfhout, David A Koolen, Petra de Vries, Christian Gilissen,[...]. N Engl J Med 2012
952
6

An assessment of sex bias in neurodevelopmental disorders.
Andrew Polyak, Jill A Rosenfeld, Santhosh Girirajan. Genome Med 2015
40
15


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
6

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
551
6

A copy number variation map of the human genome.
Mehdi Zarrei, Jeffrey R MacDonald, Daniele Merico, Stephen W Scherer. Nat Rev Genet 2015
357
6


Speech delays and behavioral problems are the predominant features in individuals with developmental delays and 16p11.2 microdeletions and microduplications.
Jill A Rosenfeld, Justine Coppinger, Bassem A Bejjani, Santhosh Girirajan, Evan E Eichler, Lisa G Shaffer, Blake C Ballif. J Neurodev Disord 2010
104
6

The genetics of microdeletion and microduplication syndromes: an update.
Corey T Watson, Tomas Marques-Bonet, Andrew J Sharp, Heather C Mefford. Annu Rev Genomics Hum Genet 2014
77
7

The role of parental cognitive, behavioral, and motor profiles in clinical variability in individuals with chromosome 16p11.2 deletions.
Andres Moreno-De-Luca, David W Evans, K B Boomer, Ellen Hanson, Raphael Bernier, Robin P Goin-Kochel, Scott M Myers, Thomas D Challman, Daniel Moreno-De-Luca, Mylissa M Slane,[...]. JAMA Psychiatry 2015
85
7

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
6

Mapping autism risk loci using genetic linkage and chromosomal rearrangements.
Peter Szatmari, Andrew D Paterson, Lonnie Zwaigenbaum, Wendy Roberts, Jessica Brian, Xiao-Qing Liu, John B Vincent, Jennifer L Skaug, Ann P Thompson, Lili Senman,[...]. Nat Genet 2007
944
5

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.
S Hong Lee, Stephan Ripke, Benjamin M Neale, Stephen V Faraone, Shaun M Purcell, Roy H Perlis, Bryan J Mowry, Anita Thapar, Michael E Goddard, John S Witte,[...]. Nat Genet 2013
5

Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence.
Andres Moreno-De-Luca, Scott M Myers, Thomas D Challman, Daniel Moreno-De-Luca, David W Evans, David H Ledbetter. Lancet Neurol 2013
168
5

Large, rare chromosomal deletions associated with severe early-onset obesity.
Elena G Bochukova, Ni Huang, Julia Keogh, Elana Henning, Carolin Purmann, Kasia Blaszczyk, Sadia Saeed, Julian Hamilton-Shield, Jill Clayton-Smith, Stephen O'Rahilly,[...]. Nature 2010
339
5

KCTD13 is a major driver of mirrored neuroanatomical phenotypes of the 16p11.2 copy number variant.
Christelle Golzio, Jason Willer, Michael E Talkowski, Edwin C Oh, Yu Taniguchi, Sébastien Jacquemont, Alexandre Reymond, Mei Sun, Akira Sawa, James F Gusella,[...]. Nature 2012
231
5

A large and complex structural polymorphism at 16p12.1 underlies microdeletion disease risk.
Francesca Antonacci, Jeffrey M Kidd, Tomas Marques-Bonet, Brian Teague, Mario Ventura, Santhosh Girirajan, Can Alkan, Catarina D Campbell, Laura Vives, Maika Malig,[...]. Nat Genet 2010
67
7

TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
N Wu, X Ming, J Xiao, Z Wu, X Chen, M Shinawi, Y Shen, G Yu, J Liu, H Xie,[...]. N Engl J Med 2015
143
5

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
5

Genome-wide arrays: quality criteria and platforms to be used in routine diagnostics.
Joris R Vermeesch, Paul D Brady, Damien Sanlaville, Klaas Kok, Rosalind J Hastings. Hum Mutat 2012
52
9

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
6



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.