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


Array CGH in patients with developmental delay or intellectual disability: are there phenotypic clues to pathogenic copy number variants?
M Shoukier, N Klein, B Auber, J Wickert, J Schröder, B Zoll, P Burfeind, I Bartels, E A Alsat, M Lingen,[...]. Clin Genet 2013
42
9

Diagnostic yield of various genetic approaches in patients with unexplained developmental delay or mental retardation.
Anita Rauch, Juliane Hoyer, Sabine Guth, Christiane Zweier, Cornelia Kraus, Christian Becker, Martin Zenker, Ulrike Hüffmeier, Christian Thiel, Franz Rüschendorf,[...]. Am J Med Genet A 2006
223
4

Whole-genome sequencing in autism identifies hot spots for de novo germline mutation.
Jacob J Michaelson, Yujian Shi, Madhusudan Gujral, Hancheng Zheng, Dheeraj Malhotra, Xin Jin, Minghan Jian, Guangming Liu, Douglas Greer, Abhishek Bhandari,[...]. Cell 2012
326
4

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
4

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
126
4

A functional genetic link between distinct developmental language disorders.
Sonja C Vernes, Dianne F Newbury, Brett S Abrahams, Laura Winchester, Jérôme Nicod, Matthias Groszer, Maricela Alarcón, Peter L Oliver, Kay E Davies, Daniel H Geschwind,[...]. N Engl J Med 2008
388
4

Investigation of dyslexia and SLI risk variants in reading- and language-impaired subjects.
D F Newbury, S Paracchini, T S Scerri, L Winchester, L Addis, Alex J Richardson, J Walter, J F Stein, J B Talcott, A P Monaco. Behav Genet 2011
131
4

Rare structural variants found in attention-deficit hyperactivity disorder are preferentially associated with neurodevelopmental genes.
J Elia, X Gai, H M Xie, J C Perin, E Geiger, J T Glessner, M D'arcy, R deBerardinis, E Frackelton, C Kim,[...]. Mol Psychiatry 2010
350
4

The Database of Genomic Variants: a curated collection of structural variation in the human genome.
Jeffrey R MacDonald, Robert Ziman, Ryan K C Yuen, Lars Feuk, Stephen W Scherer. Nucleic Acids Res 2014
617
4

The autism diagnostic observation schedule-generic: a standard measure of social and communication deficits associated with the spectrum of autism.
C Lord, S Risi, L Lambrecht, E H Cook, B L Leventhal, P C DiLavore, A Pickles, M Rutter. J Autism Dev Disord 2000
4


Clinical genetic testing for patients with autism spectrum disorders.
Yiping Shen, Kira A Dies, Ingrid A Holm, Carolyn Bridgemohan, Magdi M Sobeih, Elizabeth B Caronna, Karen J Miller, Jean A Frazier, Iris Silverstein, Jonathan Picker,[...]. Pediatrics 2010
239
4

Recurrent reciprocal deletions and duplications of 16p13.11: the deletion is a risk factor for MR/MCA while the duplication may be a rare benign variant.
F D Hannes, A J Sharp, H C Mefford, T de Ravel, C A Ruivenkamp, M H Breuning, J-P Fryns, K Devriendt, G Van Buggenhout, A Vogels,[...]. J Med Genet 2009
198
4

Chromosomal microarray impacts clinical management.
E R Riggs, K E Wain, D Riethmaier, B Smith-Packard, W A Faucett, N Hoppman, E C Thorland, V C Patel, D T Miller. Clin Genet 2014
50
8

The impact of chromosomal microarray on clinical management: a retrospective analysis.
Lindsay B Henderson, Carolyn D Applegate, Elizabeth Wohler, Molly B Sheridan, Julie Hoover-Fong, Denise A S Batista. Genet Med 2014
47
8

Diversity of human copy number variation and multicopy genes.
Peter H Sudmant, Jacob O Kitzman, Francesca Antonacci, Can Alkan, Maika Malig, Anya Tsalenko, Nick Sampas, Laurakay Bruhn, Jay Shendure, Evan E Eichler. Science 2010
428
4

Autism as a strongly genetic disorder: evidence from a British twin study.
A Bailey, A Le Couteur, I Gottesman, P Bolton, E Simonoff, E Yuzda, M Rutter. Psychol Med 1995
4

Genome-wide characteristics of de novo mutations in autism.
Ryan K C Yuen, Daniele Merico, Hongzhi Cao, Giovanna Pellecchia, Babak Alipanahi, Bhooma Thiruvahindrapuram, Xin Tong, Yuhui Sun, Dandan Cao, Tao Zhang,[...]. NPJ Genom Med 2016
103
4

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.
Zhishuo Ou, Jonathan S Berg, Hagith Yonath, Victoria B Enciso, David T Miller, Jonathan Picker, Tiffanee Lenzi, Catherine E Keegan, Vernon R Sutton, John Belmont,[...]. Genet Med 2008
134
4

Recent segmental duplications in the human genome.
Jeffrey A Bailey, Zhiping Gu, Royden A Clark, Knut Reinert, Rhea V Samonte, Stuart Schwartz, Mark D Adams, Eugene W Myers, Peter W Li, Evan E Eichler. Science 2002
925
4

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
146
4

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
86
4

Mechanisms underlying structural variant formation in genomic disorders.
Claudia M B Carvalho, James R Lupski. Nat Rev Genet 2016
256
4

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
4

De novo rates and selection of large copy number variation.
Andy Itsara, Hao Wu, Joshua D Smith, Deborah A Nickerson, Isabelle Romieu, Stephanie J London, Evan E Eichler. Genome Res 2010
187
4

An Expanded View of Complex Traits: From Polygenic to Omnigenic.
Evan A Boyle, Yang I Li, Jonathan K Pritchard. Cell 2017
904
4

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
Ingo Helbig, Heather C Mefford, Andrew J Sharp, Michel Guipponi, Marco Fichera, Andre Franke, Hiltrud Muhle, Carolien de Kovel, Carl Baker, Sarah von Spiczak,[...]. Nat Genet 2009
393
4

Autism genetics: opportunities and challenges for clinical translation.
Jacob A S Vorstman, Jeremy R Parr, Daniel Moreno-De-Luca, Richard J L Anney, John I Nurnberger, Joachim F Hallmayer. Nat Rev Genet 2017
156
4

Family history of schizophrenia and bipolar disorder as risk factors for autism.
Patrick F Sullivan, Cecilia Magnusson, Abraham Reichenberg, Marcus Boman, Christina Dalman, Michael Davidson, Eyal Fruchter, Christina M Hultman, Michael Lundberg, Niklas Långström,[...]. Arch Gen Psychiatry 2012
138
4

Autism spectrum disorder severity reflects the average contribution of de novo and familial influences.
Elise B Robinson, Kaitlin E Samocha, Jack A Kosmicki, Lauren McGrath, Benjamin M Neale, Roy H Perlis, Mark J Daly. Proc Natl Acad Sci U S A 2014
72
5

PLINK: a tool set for whole-genome association and population-based linkage analyses.
Shaun Purcell, Benjamin Neale, Kathe Todd-Brown, Lori Thomas, Manuel A R Ferreira, David Bender, Julian Maller, Pamela Sklar, Paul I W de Bakker, Mark J Daly,[...]. Am J Hum Genet 2007
4

CNVs in neuropsychiatric disorders.
George Kirov. Hum Mol Genet 2015
74
5

QuantiSNP: an Objective Bayes Hidden-Markov Model to detect and accurately map copy number variation using SNP genotyping data.
Stefano Colella, Christopher Yau, Jennifer M Taylor, Ghazala Mirza, Helen Butler, Penny Clouston, Anne S Bassett, Anneke Seller, Christopher C Holmes, Jiannis Ragoussis. Nucleic Acids Res 2007
406
4

16p11.2 deletion and duplication: Characterizing neurologic phenotypes in a large clinically ascertained cohort.
Kyle J Steinman, Sarah J Spence, Melissa B Ramocki, Monica B Proud, Sudha K Kessler, Elysa J Marco, LeeAnne Green Snyder, Debra D'Angelo, Qixuan Chen, Wendy K Chung,[...]. Am J Med Genet A 2016
68
5

Large-scale copy number polymorphism in the human genome.
Jonathan Sebat, B Lakshmi, Jennifer Troge, Joan Alexander, Janet Young, Pär Lundin, Susanne Månér, Hillary Massa, Megan Walker, Maoyen Chi,[...]. Science 2004
4

Detection of large-scale variation in the human genome.
A John Iafrate, Lars Feuk, Miguel N Rivera, Marc L Listewnik, Patricia K Donahoe, Ying Qi, Stephen W Scherer, Charles Lee. Nat Genet 2004
4

The 15q11.2 BP1-BP2 microdeletion syndrome: a review.
Devin M Cox, Merlin G Butler. Int J Mol Sci 2015
92
4

Chromosomal microarray in clinical diagnosis: a study of 337 patients with congenital anomalies and developmental delays or intellectual disability.
Ivona Sansović, Ana-Maria Ivankov, Adriana Bobinec, Mijana Kero, Ingeborg Barišić. Croat Med J 2017
10
40

The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children.
Stefano D'Arrigo, Francesco Gavazzi, Enrico Alfei, Orsetta Zuffardi, Cristina Montomoli, Barbara Corso, Erika Buzzi, Francesca L Sciacca, Sara Bulgheroni, Daria Riva,[...]. J Child Neurol 2016
22
18

Dosage-dependent phenotypes in models of 16p11.2 lesions found in autism.
Guy Horev, Jacob Ellegood, Jason P Lerch, Young-Eun E Son, Lakshmi Muthuswamy, Hannes Vogel, Abba M Krieger, Andreas Buja, R Mark Henkelman, Michael Wigler,[...]. Proc Natl Acad Sci U S A 2011
168
4

Low load for disruptive mutations in autism genes and their biased transmission.
Ivan Iossifov, Dan Levy, Jeremy Allen, Kenny Ye, Michael Ronemus, Yoon-Ha Lee, Boris Yamrom, Michael Wigler. Proc Natl Acad Sci U S A 2015
69
5


Pervasive genetic interactions modulate neurodevelopmental defects of the autism-associated 16p11.2 deletion in Drosophila melanogaster.
Janani Iyer, Mayanglambam Dhruba Singh, Matthew Jensen, Payal Patel, Lucilla Pizzo, Emily Huber, Haley Koerselman, Alexis T Weiner, Paola Lepanto, Komal Vadodaria,[...]. Nat Commun 2018
16
25

Kctd13 deletion reduces synaptic transmission via increased RhoA.
Christine Ochoa Escamilla, Irina Filonova, Angela K Walker, Zhong X Xuan, Roopashri Holehonnur, Felipe Espinosa, Shunan Liu, Summer B Thyme, Isabel A López-García, Dorian B Mendoza,[...]. Nature 2017
44
9

The 16p11.2 deletion mouse model of autism exhibits altered cortical progenitor proliferation and brain cytoarchitecture linked to the ERK MAPK pathway.
Joanna Pucilowska, Joseph Vithayathil, Emmanuel J Tavares, Caitlin Kelly, J Colleen Karlo, Gary E Landreth. J Neurosci 2015
78
5

CNV biology in neurodevelopmental disorders.
Toru Takumi, Kota Tamada. Curr Opin Neurobiol 2018
34
11


Inherited and multiple de novo mutations in autism/developmental delay risk genes suggest a multifactorial model.
Hui Guo, Tianyun Wang, Huidan Wu, Min Long, Bradley P Coe, Honghui Li, Guanglei Xun, Jianjun Ou, Biyuan Chen, Guiqin Duan,[...]. Mol Autism 2018
38
10

Joint Contributions of Rare Copy Number Variants and Common SNPs to Risk for Schizophrenia.
Sarah E Bergen, Alexander Ploner, Daniel Howrigan, Michael C O'Donovan, Jordan W Smoller, Patrick F Sullivan, Jonathan Sebat, Benjamin Neale, Kenneth S Kendler. Am J Psychiatry 2019
39
10

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
4


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.