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: 423







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



Times Cited
  Times     Co-cited
Similarity


Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
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,[...]. N Engl J Med 2012
363
39

A copy number variation morbidity map of developmental delay.
Gregory M Cooper, Bradley P Coe, Santhosh Girirajan, Jill A Rosenfeld, Tiffany H Vu, Carl Baker, Charles Williams, Heather Stalker, Rizwan Hamid, Vickie Hannig,[...]. Nat Genet 2011
834
22

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
195
22

Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies.
David T Miller, Margaret P Adam, Swaroop Aradhya, Leslie G Biesecker, Arthur R Brothman, Nigel P Carter, Deanna M Church, John A Crolla, Evan E Eichler, Charles J Epstein,[...]. Am J Hum Genet 2010
21

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.
Hutton M Kearney, Erik C Thorland, Kerry K Brown, Fabiola Quintero-Rivera, Sarah T South. Genet Med 2011
549
18

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Dalila Pinto, Elsa Delaby, Daniele Merico, Mafalda Barbosa, Alison Merikangas, Lambertus Klei, Bhooma Thiruvahindrapuram, Xiao Xu, Robert Ziman, Zhuozhi Wang,[...]. Am J Hum Genet 2014
557
18

The contribution of de novo coding mutations to autism spectrum disorder.
Ivan Iossifov, Brian J O'Roak, Stephan J Sanders, Michael Ronemus, Niklas Krumm, Dan Levy, Holly A Stessman, Kali T Witherspoon, Laura Vives, Karynne E Patterson,[...]. Nature 2014
16

The penetrance of copy number variations for schizophrenia and developmental delay.
George Kirov, Elliott Rees, James T R Walters, Valentina Escott-Price, Lyudmila Georgieva, Alexander L Richards, Kimberly D Chambert, Gerwyn Davies, Sophie E Legge, Jennifer L Moran,[...]. Biol Psychiatry 2014
212
15

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill A Rosenfeld, Katrin Mannik, Arjun Krishnan, Elizabeth McCready, Olivier Pichon, Cedric Le Caignec, Anke Van Dijck,[...]. Genet Med 2019
66
22

Insights into Autism Spectrum Disorder Genomic Architecture and Biology from 71 Risk Loci.
Stephan J Sanders, Xin He, A Jeremy Willsey, A Gulhan Ercan-Sencicek, Kaitlin E Samocha, A Ercument Cicek, Michael T Murtha, Vanessa H Bal, Somer L Bishop, Shan Dong,[...]. Neuron 2015
677
14

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
Debra D'Angelo, Sébastien Lebon, Qixuan Chen, Sandra Martin-Brevet, LeeAnne Green Snyder, Loyse Hippolyte, Ellen Hanson, Anne M Maillard, W Andrew Faucett, Aurélien Macé,[...]. JAMA Psychiatry 2016
111
13

Synaptic, transcriptional and chromatin genes disrupted in autism.
Silvia De Rubeis, Xin He, Arthur P Goldberg, Christopher S Poultney, Kaitlin Samocha, A Erucment Cicek, Yan Kou, Li Liu, Menachem Fromer, Susan Walker,[...]. Nature 2014
13

Association between microdeletion and microduplication at 16p11.2 and autism.
Lauren A Weiss, Yiping Shen, Joshua M Korn, Dan E Arking, David T Miller, Ragnheidur Fossdal, Evald Saemundsen, Hreinn Stefansson, Manuel A R Ferreira, Todd Green,[...]. N Engl J Med 2008
12

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
12

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Erin B Kaminsky, Vineith Kaul, Justin Paschall, Deanna M Church, Brian Bunke, Dawn Kunig, Daniel Moreno-De-Luca, Andres Moreno-De-Luca, Jennifer G Mulle, Stephen T Warren,[...]. Genet Med 2011
296
12

CNVs conferring risk of autism or schizophrenia affect cognition in controls.
Hreinn Stefansson, Andreas Meyer-Lindenberg, Stacy Steinberg, Brynja Magnusdottir, Katrin Morgen, Sunna Arnarsdottir, Gyda Bjornsdottir, G Bragi Walters, Gudrun A Jonsdottir, Orla M Doyle,[...]. Nature 2014
401
12

Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
12


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
308
12

Functional impact of global rare copy number variation in autism spectrum disorders.
Dalila Pinto, Alistair T Pagnamenta, Lambertus Klei, Richard Anney, Daniele Merico, Regina Regan, Judith Conroy, Tiago R Magalhaes, Catarina Correia, Brett S Abrahams,[...]. Nature 2010
11

Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects.
Christian R Marshall, Daniel P Howrigan, Daniele Merico, Bhooma Thiruvahindrapuram, Wenting Wu, Douglas S Greer, Danny Antaki, Aniket Shetty, Peter A Holmans, Dalila Pinto,[...]. Nat Genet 2017
455
11

Strong association of de novo copy number mutations with autism.
Jonathan Sebat, B Lakshmi, Dheeraj Malhotra, Jennifer Troge, Christa Lese-Martin, Tom Walsh, Boris Yamrom, Seungtai Yoon, Alex Krasnitz, Jude Kendall,[...]. Science 2007
11

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
Marwan Shinawi, Pengfei Liu, Sung-Hae L Kang, Joseph Shen, John W Belmont, Daryl A Scott, Frank J Probst, William J Craigen, Brett H Graham, Amber Pursley,[...]. J Med Genet 2010
327
10

Phenotypic variability and genetic susceptibility to genomic disorders.
Santhosh Girirajan, Evan E Eichler. Hum Mol Genet 2010
187
10

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Brian J O'Roak, Laura Vives, Santhosh Girirajan, Emre Karakoc, Niklas Krumm, Bradley P Coe, Roie Levy, Arthur Ko, Choli Lee, Joshua D Smith,[...]. Nature 2012
10

Refining analyses of copy number variation identifies specific genes associated with developmental delay.
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,[...]. Nat Genet 2014
340
10

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Stephan J Sanders, A Gulhan Ercan-Sencicek, Vanessa Hus, Rui Luo, Michael T Murtha, Daniel Moreno-De-Luca, Su H Chu, Michael P Moreau, Abha R Gupta, Susanne A Thomson,[...]. Neuron 2011
829
10

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
162
9

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
783
9

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
9

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
209
9

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
325
8

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
944
8

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Nicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, John Belmont, Carlos A Bacino, Trilochan Sahoo, Seema R Lalani, Brett Graham, Brendan Lee, Marwan Shinawi,[...]. Nat Genet 2008
400
8

De novo gene disruptions in children on the autistic spectrum.
Ivan Iossifov, Michael Ronemus, Dan Levy, Zihua Wang, Inessa Hakker, Julie Rosenbaum, Boris Yamrom, Yoon-Ha Lee, Giuseppe Narzisi, Anthony Leotta,[...]. Neuron 2012
931
8

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
Heather C Mefford, Andrew J Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Karen Buysse, Shuwen Huang, Viv K Maloney, John A Crolla, Diana Baralle,[...]. N Engl J Med 2008
527
8

Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Santhosh Girirajan, Zoran Brkanac, Bradley P Coe, Carl Baker, Laura Vives, Tiffany H Vu, Neil Shafer, Raphael Bernier, Giovanni B Ferrero, Margherita Silengo,[...]. PLoS Genet 2011
216
8

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
469
8

De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
Stephan J Sanders, Michael T Murtha, Abha R Gupta, John D Murdoch, Melanie J Raubeson, A Jeremy Willsey, A Gulhan Ercan-Sencicek, Nicholas M DiLullo, Neelroop N Parikshak, Jason L Stein,[...]. Nature 2012
8

A copy number variation map of the human genome.
Mehdi Zarrei, Jeffrey R MacDonald, Daniele Merico, Stephen W Scherer. Nat Rev Genet 2015
407
8

PennCNV: an integrated hidden Markov model designed for high-resolution copy number variation detection in whole-genome SNP genotyping data.
Kai Wang, Mingyao Li, Dexter Hadley, Rui Liu, Joseph Glessner, Struan F A Grant, Hakon Hakonarson, Maja Bucan. Genome Res 2007
8

Maternal Modifiers and Parent-of-Origin Bias of the Autism-Associated 16p11.2 CNV.
Michael H Duyzend, Xander Nuttle, Bradley P Coe, Carl Baker, Deborah A Nickerson, Raphael Bernier, Evan E Eichler. Am J Hum Genet 2016
35
22

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
272
8

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
113
8

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
8

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
273
7

Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
Brian J O'Roak, Laura Vives, Wenqing Fu, Jarrett D Egertson, Ian B Stanaway, Ian G Phelps, Gemma Carvill, Akash Kumar, Choli Lee, Katy Ankenman,[...]. Science 2012
810
7

Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Santhosh Girirajan, Megan Y Dennis, Carl Baker, Maika Malig, Bradley P Coe, Catarina D Campbell, Kenneth Mark, Tiffany H Vu, Can Alkan, Ze Cheng,[...]. Am J Hum Genet 2013
194
7

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders.
Flore Zufferey, Elliott H Sherr, Noam D Beckmann, Ellen Hanson, Anne M Maillard, Loyse Hippolyte, Aurélien Macé, Carina Ferrari, Zoltán Kutalik, Joris Andrieux,[...]. J Med Genet 2012
161
7

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
71
9


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.