A citation-based method for searching scientific literature

Santhosh Girirajan, Jill A Rosenfeld, Bradley P Coe, Sumit Parikh, Neil Friedman, Amy Goldstein, Robyn A Filipink, Juliann S McConnell, Brad Angle, Wendy S Meschino, Marjan M Nezarati, Alexander Asamoah, Kelly E Jackson, Gordon C Gowans, Judith A Martin, Erin P Carmany, David W Stockton, Rhonda E Schnur, Lynette S Penney, Donna M Martin, Salmo Raskin, Kathleen Leppig, Heidi Thiese, Rosemarie Smith, Erika Aberg, Dmitriy M Niyazov, Luis F Escobar, Dima El-Khechen, Kisha D Johnson, Robert R Lebel, Kiana Siefkas, Susie Ball, Natasha Shur, Marianne McGuire, Campbell K Brasington, J Edward Spence, Laura S Martin, Carol Clericuzio, Blake C Ballif, Lisa G Shaffer, Evan E Eichler. N Engl J Med 2012
Times Cited: 350







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



Times Cited
  Times     Co-cited
Similarity


What Is the Male-to-Female Ratio in Autism Spectrum Disorder? A Systematic Review and Meta-Analysis.
Rachel Loomes, Laura Hull, William Polmear Locke Mandy. J Am Acad Child Adolesc Psychiatry 2017
445
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
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

Global prevalence of autism and other pervasive developmental disorders.
Mayada Elsabbagh, Gauri Divan, Yun-Joo Koh, Young Shin Kim, Shuaib Kauchali, Carlos Marcín, Cecilia Montiel-Nava, Vikram Patel, Cristiane S Paula, Chongying Wang,[...]. Autism Res 2012
917
4

Using large clinical data sets to infer pathogenicity for rare copy number variants in autism cohorts.
D Moreno-De-Luca, S J Sanders, A J Willsey, J G Mulle, J K Lowe, D H Geschwind, M W State, C L Martin, D H Ledbetter. Mol Psychiatry 2013
96
4

Genome Sequencing of Autism-Affected Families Reveals Disruption of Putative Noncoding Regulatory DNA.
Tychele N Turner, Fereydoun Hormozdiari, Michael H Duyzend, Sarah A McClymont, Paul W Hook, Ivan Iossifov, Archana Raja, Carl Baker, Kendra Hoekzema, Holly A Stessman,[...]. Am J Hum Genet 2016
150
4

Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
Rachel Soemedi, Ana Topf, Ian J Wilson, Rebecca Darlay, Thahira Rahman, Elise Glen, Darroch Hall, Ni Huang, Jamie Bentham, Shoumo Bhattacharya,[...]. Hum Mol Genet 2012
72
5

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
80
5

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder.
Ryan K C Yuen, Daniele Merico, Matt Bookman, Jennifer L Howe, Bhooma Thiruvahindrapuram, Rohan V Patel, Joe Whitney, Nicole Deflaux, Jonathan Bingham, Zhuozhi Wang,[...]. Nat Neurosci 2017
328
4

Developmental trajectories for young children with 16p11.2 copy number variation.
Raphael Bernier, Caitlin M Hudac, Qixuan Chen, Chubing Zeng, Arianne Stevens Wallace, Jennifer Gerdts, Rachel Earl, Jessica Peterson, Anne Wolken, Alana Peters,[...]. Am J Med Genet B Neuropsychiatr Genet 2017
23
17

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
28

Genetic counseling for susceptibility loci and neurodevelopmental disorders: the del15q11.2 as an example.
Veerle De Wolf, Nathalie Brison, Koenraad Devriendt, Hilde Peeters. Am J Med Genet A 2013
40
10

Second-generation PLINK: rising to the challenge of larger and richer datasets.
Christopher C Chang, Carson C Chow, Laurent Cam Tellier, Shashaank Vattikuti, Shaun M Purcell, James J Lee. Gigascience 2015
4

Analytical approaches to RNA profiling data for the identification of genes enriched in specific cells.
Joseph D Dougherty, Eric F Schmidt, Miho Nakajima, Nathaniel Heintz. Nucleic Acids Res 2010
138
4

7q11.23 dosage-dependent dysregulation in human pluripotent stem cells affects transcriptional programs in disease-relevant lineages.
Antonio Adamo, Sina Atashpaz, Pierre-Luc Germain, Matteo Zanella, Giuseppe D'Agostino, Veronica Albertin, Josh Chenoweth, Lucia Micale, Carmela Fusco, Christian Unger,[...]. Nat Genet 2015
75
5

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
7

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


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
4

Psychiatric-disorder-related behavioral phenotypes and cortical hyperactivity in a mouse model of 3q29 deletion syndrome.
Masayuki Baba, Kazumasa Yokoyama, Kaoru Seiriki, Yuichiro Naka, Kensuke Matsumura, Momoka Kondo, Kana Yamamoto, Misuzu Hayashida, Atsushi Kasai, Yukio Ago,[...]. Neuropsychopharmacology 2019
11
36

Reciprocal White Matter Changes Associated With Copy Number Variation at 15q11.2 BP1-BP2: A Diffusion Tensor Imaging Study.
Ana I Silva, Magnus O Ulfarsson, Hreinn Stefansson, Omar Gustafsson, G Bragi Walters, David E J Linden, Lawrence S Wilkinson, Mark Drakesmith, Michael J Owen, Jeremy Hall,[...]. Biol Psychiatry 2019
18
22

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
105
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
4

Association of Copy Number Variation of the 15q11.2 BP1-BP2 Region With Cortical and Subcortical Morphology and Cognition.
Dennis van der Meer, Ida E Sønderby, Tobias Kaufmann, G Bragi Walters, Abdel Abdellaoui, David Ames, Katrin Amunts, Micael Andersson, Nicola J Armstrong, Manon Bernard,[...]. JAMA Psychiatry 2020
19
21

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
92
4

Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.
Jesse Christiansen, John D Dyck, Basil G Elyas, Margaret Lilley, J Stephen Bamforth, Mark Hicks, Kathleen A Sprysak, Robert Tomaszewski, Shelagh M Haase, Leanne M Vicen-Wyhony,[...]. Circ Res 2004
104
4

Refining the Phenotype of Recurrent Rearrangements of Chromosome 16.
Serena Redaelli, Silvia Maitz, Francesca Crosti, Elena Sala, Nicoletta Villa, Luigina Spaccini, Angelo Selicorni, Miriam Rigoldi, Donatella Conconi, Leda Dalprà,[...]. Int J Mol Sci 2019
13
30

Cognitive performance and functional outcomes of carriers of pathogenic copy number variants: analysis of the UK Biobank.
Kimberley M Kendall, Matthew Bracher-Smith, Harry Fitzpatrick, Amy Lynham, Elliott Rees, Valentina Escott-Price, Michael J Owen, Michael C O'Donovan, James T R Walters, George Kirov. Br J Psychiatry 2019
30
13

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Erin Rooney Riggs, Erica F Andersen, Athena M Cherry, Sibel Kantarci, Hutton Kearney, Ankita Patel, Gordana Raca, Deborah I Ritter, Sarah T South, Erik C Thorland,[...]. Genet Med 2020
125
4

Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank.
Karen Crawford, Matthew Bracher-Smith, David Owen, Kimberley M Kendall, Elliott Rees, Antonio F Pardiñas, Mark Einon, Valentina Escott-Price, James T R Walters, Michael C O'Donovan,[...]. J Med Genet 2019
38
10

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
91
4

Using common genetic variation to examine phenotypic expression and risk prediction in 22q11.2 deletion syndrome.
Robert W Davies, Ania M Fiksinski, Elemi J Breetvelt, Nigel M Williams, Stephen R Hooper, Thomas Monfeuga, Anne S Bassett, Michael J Owen, Raquel E Gur, Bernice E Morrow,[...]. Nat Med 2020
15
26

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
3

Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.
Giulio Genovese, Menachem Fromer, Eli A Stahl, Douglas M Ruderfer, Kimberly Chambert, Mikael Landén, Jennifer L Moran, Shaun M Purcell, Pamela Sklar, Patrick F Sullivan,[...]. Nat Neurosci 2016
210
3

Where genotype is not predictive of phenotype: towards an understanding of the molecular basis of reduced penetrance in human inherited disease.
David N Cooper, Michael Krawczak, Constantin Polychronakos, Chris Tyler-Smith, Hildegard Kehrer-Sawatzki. Hum Genet 2013
296
3

Recurrent deletions and duplications of chromosome 2q11.2 and 2q13 are associated with variable outcomes.
Kacie N Riley, Lisa M Catalano, John A Bernat, Stacie D Adams, Donna M Martin, Seema R Lalani, Ankita Patel, Rachel D Burnside, Jeffrey W Innis, M Katharine Rudd. Am J Med Genet A 2015
22
13

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.
Anne Rovelet-Lecrux, Didier Hannequin, Gregory Raux, Nathalie Le Meur, Annie Laquerrière, Anne Vital, Cécile Dumanchin, Sébastien Feuillette, Alexis Brice, Martine Vercelletto,[...]. Nat Genet 2006
805
3

Global variation in copy number in the human genome.
Richard Redon, Shumpei Ishikawa, Karen R Fitch, Lars Feuk, George H Perry, T Daniel Andrews, Heike Fiegler, Michael H Shapero, Andrew R Carson, Wenwei Chen,[...]. Nature 2006
3

An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Pengfei Liu, Bo Yuan, Claudia M B Carvalho, Arthur Wuster, Klaudia Walter, Ling Zhang, Tomasz Gambin, Zechen Chong, Ian M Campbell, Zeynep Coban Akdemir,[...]. Cell 2017
40
7



Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome.
Tingwei Guo, Jonathan H Chung, Tao Wang, Donna M McDonald-McGinn, Wendy R Kates, Wanda Hawuła, Karlene Coleman, Elaine Zackai, Beverly S Emanuel, Bernice E Morrow. Am J Hum Genet 2015
35
8

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.
Steven C Greenway, Alexandre C Pereira, Jennifer C Lin, Steven R DePalma, Samuel J Israel, Sonia M Mesquita, Emel Ergul, Jessie H Conta, Joshua M Korn, Steven A McCarroll,[...]. Nat Genet 2009
295
3

Deletion 17q12 is a recurrent copy number variant that confers high risk of autism and schizophrenia.
Daniel Moreno-De-Luca, Jennifer G Mulle, Erin B Kaminsky, Stephan J Sanders, Scott M Myers, Margaret P Adam, Amy T Pakula, Nancy J Eisenhauer, Kim Uhas, LuAnn Weik,[...]. Am J Hum Genet 2010
198
3

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
74
4

Copy-number disorders are a common cause of congenital kidney malformations.
Simone Sanna-Cherchi, Krzysztof Kiryluk, Katelyn E Burgess, Monica Bodria, Matthew G Sampson, Dexter Hadley, Shannon N Nees, Miguel Verbitsky, Brittany J Perry, Roel Sterken,[...]. Am J Hum Genet 2012
121
3

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
3

Microduplication 22q11.2: a new chromosomal syndrome.
Marie-France Portnoï. Eur J Med Genet 2009
145
3

Genetic architecture of reciprocal CNVs.
Christelle Golzio, Nicholas Katsanis. Curr Opin Genet Dev 2013
32
9

Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population.
Elise B Robinson, Beate St Pourcain, Verneri Anttila, Jack A Kosmicki, Brendan Bulik-Sullivan, Jakob Grove, Julian Maller, Kaitlin E Samocha, Stephan J Sanders, Stephan Ripke,[...]. Nat Genet 2016
192
3


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.