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


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
32
15

Genome architecture, rearrangements and genomic disorders.
Paweł Stankiewicz, James R Lupski. Trends Genet 2002
625
5

Discovery of previously unidentified genomic disorders from the duplication architecture of the human genome.
Andrew J Sharp, Sierra Hansen, Rebecca R Selzer, Ze Cheng, Regina Regan, Jane A Hurst, Helen Stewart, Sue M Price, Edward Blair, Raoul C Hennekam,[...]. Nat Genet 2006
428
5

1q21.1 Microduplication expression in adults.
Alessia Dolcetti, Candice K Silversides, Christian R Marshall, Anath C Lionel, Dimitri J Stavropoulos, Stephen W Scherer, Anne S Bassett. Genet Med 2013
58
8

Finding the missing heritability of complex diseases.
Teri A Manolio, Francis S Collins, Nancy J Cox, David B Goldstein, Lucia A Hindorff, David J Hunter, Mark I McCarthy, Erin M Ramos, Lon R Cardon, Aravinda Chakravarti,[...]. Nature 2009
5

De novo CNV analysis implicates specific abnormalities of postsynaptic signalling complexes in the pathogenesis of schizophrenia.
G Kirov, A J Pocklington, P Holmans, D Ivanov, M Ikeda, D Ruderfer, J Moran, K Chambert, D Toncheva, L Georgieva,[...]. Mol Psychiatry 2012
513
5

Microduplications of 16p11.2 are associated with schizophrenia.
Shane E McCarthy, Vladimir Makarov, George Kirov, Anjene M Addington, Jon McClellan, Seungtai Yoon, Diana O Perkins, Diane E Dickel, Mary Kusenda, Olga Krastoshevsky,[...]. Nat Genet 2009
475
5


A mouse model of the schizophrenia-associated 1q21.1 microdeletion syndrome exhibits altered mesolimbic dopamine transmission.
Jacob Nielsen, Kim Fejgin, Florence Sotty, Vibeke Nielsen, Arne Mørk, Claus T Christoffersen, Leonid Yavich, Jes B Lauridsen, Dorte Clausen, Peter H Larsen,[...]. Transl Psychiatry 2017
21
23

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
754
4

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
4

A polygenic burden of rare disruptive mutations in schizophrenia.
Shaun M Purcell, Jennifer L Moran, Menachem Fromer, Douglas Ruderfer, Nadia Solovieff, Panos Roussos, Colm O'Dushlaine, Kimberly Chambert, Sarah E Bergen, Anna Kähler,[...]. Nature 2014
870
4

Penetrance for copy number variants associated with schizophrenia.
Evangelos Vassos, David A Collier, Simon Holden, Christine Patch, Dan Rujescu, David St Clair, Cathryn M Lewis. Hum Mol Genet 2010
104
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
927
4

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
4

Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models.
Guénola Ricard, Jessica Molina, Jacqueline Chrast, Wenli Gu, Nele Gheldof, Sylvain Pradervand, Frédéric Schütz, Juan I Young, James R Lupski, Alexandre Reymond,[...]. PLoS Biol 2010
69
5

Patterns of genic intolerance of rare copy number variation in 59,898 human exomes.
Douglas M Ruderfer, Tymor Hamamsy, Monkol Lek, Konrad J Karczewski, David Kavanagh, Kaitlin E Samocha, Mark J Daly, Daniel G MacArthur, Menachem Fromer, Shaun M Purcell. Nat Genet 2016
107
4


Origins and functional impact of copy number variation in the human genome.
Donald F Conrad, Dalila Pinto, Richard Redon, Lars Feuk, Omer Gokcumen, Yujun Zhang, Jan Aerts, T Daniel Andrews, Chris Barnes, Peter Campbell,[...]. Nature 2010
4

Emergence of a Homo sapiens-specific gene family and chromosome 16p11.2 CNV susceptibility.
Xander Nuttle, Giuliana Giannuzzi, Michael H Duyzend, Joshua G Schraiber, Iñigo Narvaiza, Peter H Sudmant, Osnat Penn, Giorgia Chiatante, Maika Malig, John Huddleston,[...]. Nature 2016
54
7

Structural variation in the human genome and its role in disease.
Paweł Stankiewicz, James R Lupski. Annu Rev Med 2010
667
4

Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice.
E A Lindsay, F Vitelli, H Su, M Morishima, T Huynh, T Pramparo, V Jurecic, G Ogunrinu, H F Sutherland, P J Scambler,[...]. Nature 2001
673
4

Analysis of Intellectual Disability Copy Number Variants for Association With Schizophrenia.
Elliott Rees, Kimberley Kendall, Antonio F Pardiñas, Sophie E Legge, Andrew Pocklington, Valentina Escott-Price, James H MacCabe, David A Collier, Peter Holmans, Michael C O'Donovan,[...]. JAMA Psychiatry 2016
53
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
182
4

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang, Donna M Muzny, Jeffrey G Reid, Matthew N Bainbridge, Alecia Willis, Patricia A Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu,[...]. N Engl J Med 2013
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
150
4

Guidelines for investigating causality of sequence variants in human disease.
D G MacArthur, T A Manolio, D P Dimmock, H L Rehm, J Shendure, G R Abecasis, D R Adams, R B Altman, S E Antonarakis, E A Ashley,[...]. Nature 2014
765
4

Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.
Maria Tropeano, Joo Wook Ahn, Richard J B Dobson, Gerome Breen, James Rucker, Abhishek Dixit, Deb K Pal, Peter McGuffin, Anne Farmer, Peter S White,[...]. PLoS One 2013
71
5

Patterns and rates of exonic de novo mutations in autism spectrum disorders.
Benjamin M Neale, Yan Kou, Li Liu, Avi Ma'ayan, Kaitlin E Samocha, Aniko Sabo, Chiao-Feng Lin, Christine Stevens, Li-San Wang, Vladimir Makarov,[...]. Nature 2012
4

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
530
4

Genome-wide analysis of copy number variants in attention deficit hyperactivity disorder: the role of rare variants and duplications at 15q13.3.
Nigel M Williams, Barbara Franke, Eric Mick, Richard J L Anney, Christine M Freitag, Michael Gill, Anita Thapar, Michael C O'Donovan, Michael J Owen, Peter Holmans,[...]. Am J Psychiatry 2012
173
4

A mouse model of the 15q13.3 microdeletion syndrome shows prefrontal neurophysiological dysfunctions and attentional impairment.
Simon R O Nilsson, Pau Celada, Kim Fejgin, Jonas Thelin, Jacob Nielsen, Noemí Santana, Christopher J Heath, Peter H Larsen, Vibeke Nielsen, Brianne A Kent,[...]. Psychopharmacology (Berl) 2016
29
13

Abnormal behavior in a chromosome-engineered mouse model for human 15q11-13 duplication seen in autism.
Jin Nakatani, Kota Tamada, Fumiyuki Hatanaka, Satoko Ise, Hisashi Ohta, Kiyoshi Inoue, Shozo Tomonaga, Yasuhito Watanabe, Yeun Jun Chung, Ruby Banerjee,[...]. Cell 2009
300
4

A mouse model that recapitulates cardinal features of the 15q13.3 microdeletion syndrome including schizophrenia- and epilepsy-related alterations.
Kim Fejgin, Jacob Nielsen, Michelle R Birknow, Jesper F Bastlund, Vibeke Nielsen, Jes B Lauridsen, Hreinn Stefansson, Stacy Steinberg, Helge B D Sorensen, Troels E Mortensen,[...]. Biol Psychiatry 2014
65
6

15q13.3 homozygous knockout mouse model display epilepsy-, autism- and schizophrenia-related phenotypes.
A Forsingdal, K Fejgin, V Nielsen, T Werge, J Nielsen. Transl Psychiatry 2016
27
14

Research domain criteria (RDoC): toward a new classification framework for research on mental disorders.
Thomas Insel, Bruce Cuthbert, Marjorie Garvey, Robert Heinssen, Daniel S Pine, Kevin Quinn, Charles Sanislow, Philip Wang. Am J Psychiatry 2010
4

Mouse Model of Chromosome 15q13.3 Microdeletion Syndrome Demonstrates Features Related to Autism Spectrum Disorder.
Jeffrey H Kogan, Adam K Gross, Robert E Featherstone, Rick Shin, Qian Chen, Carrie L Heusner, Megumi Adachi, Amy Lin, Noah M Walton, Sosuke Miyoshi,[...]. J Neurosci 2015
30
13

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
Sarah S Kalia, Kathy Adelman, Sherri J Bale, Wendy K Chung, Christine Eng, James P Evans, Gail E Herman, Sophia B Hufnagel, Teri E Klein, Bruce R Korf,[...]. Genet Med 2017
783
4

Genetic architecture in autism spectrum disorder.
Bernie Devlin, Stephen W Scherer. Curr Opin Genet Dev 2012
299
4

Genetic heritability and shared environmental factors among twin pairs with autism.
Joachim Hallmayer, Sue Cleveland, Andrea Torres, Jennifer Phillips, Brianne Cohen, Tiffany Torigoe, Janet Miller, Angie Fedele, Jack Collins, Karen Smith,[...]. Arch Gen Psychiatry 2011
962
4

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
224
4

A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures.
Andrew J Sharp, Heather C Mefford, Kelly Li, Carl Baker, Cindy Skinner, Roger E Stevenson, Richard J Schroer, Francesca Novara, Manuela De Gregori, Roberto Ciccone,[...]. Nat Genet 2008
402
4

A Cross-Disorder Method to Identify Novel Candidate Genes for Developmental Brain Disorders.
Andrea J Gonzalez-Mantilla, Andres Moreno-De-Luca, David H Ledbetter, Christa Lese Martin. JAMA Psychiatry 2016
57
7

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
71
5

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
134
4

Recurrent chromosome 16p13.1 duplications are a risk factor for aortic dissections.
Shao-Qing Kuang, Dong-Chuan Guo, Siddharth K Prakash, Merry-Lynn N McDonald, Ralph J Johnson, Min Wang, Ellen S Regalado, Ludivine Russell, Jiu-Mei Cao, Callie Kwartler,[...]. PLoS Genet 2011
58
6

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

Examining and interpreting the female protective effect against autistic behavior.
Elise B Robinson, Paul Lichtenstein, Henrik Anckarsäter, Francesca Happé, Angelica Ronald. Proc Natl Acad Sci U S A 2013
190
4

Quantifying the Impact of Rare and Ultra-rare Coding Variation across the Phenotypic Spectrum.
Andrea Ganna, F Kyle Satterstrom, Seyedeh M Zekavat, Indraniel Das, Mitja I Kurki, Claire Churchhouse, Jessica Alfoldi, Alicia R Martin, Aki S Havulinna, Andrea Byrnes,[...]. Am J Hum Genet 2018
39
10


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.