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: 411







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



Times Cited
  Times     Co-cited
Similarity




Types of array findings detectable in cytogenetic diagnosis: a proposal for a generic classification.
Malgorzata I Srebniak, Karin E M Diderich, Lutgarde C P Govaerts, Marieke Joosten, Sam Riedijk, Robert Jan H Galjaard, Diane Van Opstal. Eur J Hum Genet 2014
27
18



Clinical phenotype of the recurrent 1q21.1 copy-number variant.
Raphael Bernier, Kyle J Steinman, Beau Reilly, Arianne Stevens Wallace, Elliott H Sherr, Nicholas Pojman, Heather C Mefford, Jennifer Gerdts, Rachel Earl, Ellen Hanson,[...]. Genet Med 2016
73
6

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
Cornelis A Albers, Dirk S Paul, Harald Schulze, Kathleen Freson, Jonathan C Stephens, Peter A Smethurst, Jennifer D Jolley, Ana Cvejic, Myrto Kostadima, Paul Bertone,[...]. Nat Genet 2012
247
5

Further delineation of the 15q13 microdeletion and duplication syndromes: a clinical spectrum varying from non-pathogenic to a severe outcome.
B W M van Bon, H C Mefford, B Menten, D A Koolen, A J Sharp, W M Nillesen, J W Innis, T J L de Ravel, C L Mercer, M Fichera,[...]. J Med Genet 2009
198
5

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
5

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
5

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
5

The role of de novo mutations in the genetics of autism spectrum disorders.
Michael Ronemus, Ivan Iossifov, Dan Levy, Michael Wigler. Nat Rev Genet 2014
195
5

The discovery of integrated gene networks for autism and related disorders.
Fereydoun Hormozdiari, Osnat Penn, Elhanan Borenstein, Evan E Eichler. Genome Res 2015
133
5

Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological?
Przemyslaw Szafranski, Christian P Schaaf, Richard E Person, Ian B Gibson, Zhilian Xia, Sangeetha Mahadevan, Joanna Wiszniewska, Carlos A Bacino, Seema Lalani, Lorraine Potocki,[...]. Hum Mutat 2010
95
5

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
506
5

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
128
5

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
S Ben-Shachar, B Lanpher, J R German, M Qasaymeh, L Potocki, S C Sreenath Nagamani, L M Franco, A Malphrus, G W Bottenfield, J E Spence,[...]. J Med Genet 2009
158
5

De novo mutations in epileptic encephalopathies.
Andrew S Allen, Samuel F Berkovic, Patrick Cossette, Norman Delanty, Dennis Dlugos, Evan E Eichler, Michael P Epstein, Tracy Glauser, David B Goldstein, Yujun Han,[...]. Nature 2013
906
5

Copy number variation in human health, disease, and evolution.
Feng Zhang, Wenli Gu, Matthew E Hurles, James R Lupski. Annu Rev Genomics Hum Genet 2009
688
5

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families.
Virpi M Leppa, Stephanie N Kravitz, Christa Lese Martin, Joris Andrieux, Cedric Le Caignec, Dominique Martin-Coignard, Christina DyBuncio, Stephan J Sanders, Jennifer K Lowe, Rita M Cantor,[...]. Am J Hum Genet 2016
75
6

22q11.2 deletion syndrome.
Donna M McDonald-McGinn, Kathleen E Sullivan, Bruno Marino, Nicole Philip, Ann Swillen, Jacob A S Vorstman, Elaine H Zackai, Beverly S Emanuel, Joris R Vermeesch, Bernice E Morrow,[...]. Nat Rev Dis Primers 2015
369
5

Human copy number variation and complex genetic disease.
Santhosh Girirajan, Catarina D Campbell, Evan E Eichler. Annu Rev Genet 2011
207
5

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
8

Paternally inherited cis-regulatory structural variants are associated with autism.
William M Brandler, Danny Antaki, Madhusudan Gujral, Morgan L Kleiber, Joe Whitney, Michelle S Maile, Oanh Hong, Timothy R Chapman, Shirley Tan, Prateek Tandon,[...]. Science 2018
68
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
7

Common genetic variants contribute to risk of rare severe neurodevelopmental disorders.
Mari E K Niemi, Hilary C Martin, Daniel L Rice, Giuseppe Gallone, Scott Gordon, Martin Kelemen, Kerrie McAloney, Jeremy McRae, Elizabeth J Radford, Sui Yu,[...]. Nature 2018
99
5


SHANK3 and IGF1 restore synaptic deficits in neurons from 22q13 deletion syndrome patients.
Aleksandr Shcheglovitov, Olesya Shcheglovitova, Masayuki Yazawa, Thomas Portmann, Rui Shu, Vittorio Sebastiano, Anna Krawisz, Wendy Froehlich, Jonathan A Bernstein, Joachim F Hallmayer,[...]. Nature 2013
285
4

Using whole-exome sequencing to identify inherited causes of autism.
Timothy W Yu, Maria H Chahrour, Michael E Coulter, Sarn Jiralerspong, Kazuko Okamura-Ikeda, Bulent Ataman, Klaus Schmitz-Abe, David A Harmin, Mazhar Adli, Athar N Malik,[...]. Neuron 2013
261
4

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
M G Butler, M J Dasouki, X-P Zhou, Z Talebizadeh, M Brown, T N Takahashi, J H Miles, C H Wang, R Stratton, R Pilarski,[...]. J Med Genet 2005
488
4

Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.
Blake C Ballif, Sara A Hornor, Elizabeth Jenkins, Suneeta Madan-Khetarpal, Urvashi Surti, Kelly E Jackson, Alexander Asamoah, Pamela L Brock, Gordon C Gowans, Robert L Conway,[...]. Nat Genet 2007
148
4

The 16p11.2 locus modulates brain structures common to autism, schizophrenia and obesity.
A M Maillard, A Ruef, F Pizzagalli, E Migliavacca, L Hippolyte, S Adaszewski, J Dukart, C Ferrari, P Conus, K Männik,[...]. Mol Psychiatry 2015
93
4

Recurrent 200-kb deletions of 16p11.2 that include the SH2B1 gene are associated with developmental delay and obesity.
Ruxandra Bachmann-Gagescu, Heather C Mefford, Charles Cowan, Gwen M Glew, Anne V Hing, Stephanie Wallace, Patricia I Bader, Aline Hamati, Pamela J Reitnauer, Rosemarie Smith,[...]. Genet Med 2010
119
4

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
4


Copy number variations and cognitive phenotypes in unselected populations.
Katrin Männik, Reedik Mägi, Aurélien Macé, Ben Cole, Anna L Guyatt, Hashem A Shihab, Anne M Maillard, Helene Alavere, Anneli Kolk, Anu Reigo,[...]. JAMA 2015
84
4

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
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

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.
Dalila Pinto, Katayoon Darvishi, Xinghua Shi, Diana Rajan, Diane Rigler, Tom Fitzgerald, Anath C Lionel, Bhooma Thiruvahindrapuram, Jeffrey R Macdonald, Ryan Mills,[...]. Nat Biotechnol 2011
289
4

Strong association of de novo copy number mutations with sporadic schizophrenia.
Bin Xu, J Louw Roos, Shawn Levy, E J van Rensburg, Joseph A Gogos, Maria Karayiorgou. Nat Genet 2008
582
4

Copy number variation in schizophrenia in Sweden.
J P Szatkiewicz, C O'Dushlaine, G Chen, K Chambert, J L Moran, B M Neale, M Fromer, D Ruderfer, S Akterin, S E Bergen,[...]. Mol Psychiatry 2014
157
4

De novo mutations in schizophrenia implicate synaptic networks.
Menachem Fromer, Andrew J Pocklington, David H Kavanagh, Hywel J Williams, Sarah Dwyer, Padhraig Gormley, Lyudmila Georgieva, Elliott Rees, Priit Palta, Douglas M Ruderfer,[...]. Nature 2014
948
4

Towards an evidence-based process for the clinical interpretation of copy number variation.
E R Riggs, D M Church, K Hanson, V L Horner, E B Kaminsky, R M Kuhn, K E Wain, E S Williams, S Aradhya, H M Kearney,[...]. Clin Genet 2012
60
6

Characterising and predicting haploinsufficiency in the human genome.
Ni Huang, Insuk Lee, Edward M Marcotte, Matthew E Hurles. PLoS Genet 2010
404
4

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
4

Prevalence and Characteristics of Autism Spectrum Disorder Among Children Aged 8 Years--Autism and Developmental Disabilities Monitoring Network, 11 Sites, United States, 2012.
Deborah L Christensen, Jon Baio, Kim Van Naarden Braun, Deborah Bilder, Jane Charles, John N Constantino, Julie Daniels, Maureen S Durkin, Robert T Fitzgerald, Margaret Kurzius-Spencer,[...]. MMWR Surveill Summ 2016
790
4

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
Jill A Rosenfeld, Ryan N Traylor, G Bradley Schaefer, Elizabeth W McPherson, Blake C Ballif, Eva Klopocki, Stefan Mundlos, Lisa G Shaffer, Arthur S Aylsworth. Eur J Hum Genet 2012
61
6

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.
Rachel Soemedi, Ian J Wilson, Jamie Bentham, Rebecca Darlay, Ana Töpf, Diana Zelenika, Catherine Cosgrove, Kerry Setchfield, Chris Thornborough, Javier Granados-Riveron,[...]. Am J Hum Genet 2012
179
4

Understanding variable expressivity in microdeletion syndromes.
Joris A Veltman, Han G Brunner. Nat Genet 2010
48
8

Deletions of NRXN1 (neurexin-1) predispose to a wide spectrum of developmental disorders.
Michael S L Ching, Yiping Shen, Wen-Hann Tan, Shafali S Jeste, Eric M Morrow, Xiaoli Chen, Nahit M Mukaddes, Seung-Yun Yoo, Ellen Hanson, Rachel Hundley,[...]. Am J Med Genet B Neuropsychiatr Genet 2010
193
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.