A citation-based method for searching scientific literature

Jayne Y Hehir-Kwa, Nienke Wieskamp, Caleb Webber, Rolph Pfundt, Han G Brunner, Christian Gilissen, Bert B A de Vries, Chris P Ponting, Joris A Veltman. PLoS Comput Biol 2010
Times Cited: 42







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



Times Cited
  Times     Co-cited
Similarity


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
42

DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
Helen V Firth, Shola M Richards, A Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M Pettett, Nigel P Carter. Am J Hum Genet 2009
955
38

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
33

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
33

Genomic microarrays in mental retardation: a practical workflow for diagnostic applications.
David A Koolen, Rolph Pfundt, Nicole de Leeuw, Jayne Y Hehir-Kwa, Willy M Nillesen, Ineke Neefs, Ine Scheltinga, Erik Sistermans, Dominique Smeets, Han G Brunner,[...]. Hum Mutat 2009
112
30

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
28

Characterising and predicting haploinsufficiency in the human genome.
Ni Huang, Insuk Lee, Edward M Marcotte, Matthew E Hurles. PLoS Genet 2010
414
28

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Santhosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, Tom Walsh, Shane E McCarthy, Carl Baker,[...]. Nat Genet 2010
415
26

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
517
26

European Cytogeneticists Association Register of Unbalanced Chromosome Aberrations (ECARUCA); an online database for rare chromosome abnormalities.
I Feenstra, J Fang, D A Koolen, A Siezen, C Evans, R M Winter, M M Lees, M Riegel, B B A de Vries, C M A Van Ravenswaaij,[...]. Eur J Med Genet 2006
60
26

Forging links between human mental retardation-associated CNVs and mouse gene knockout models.
Caleb Webber, Jayne Y Hehir-Kwa, Duc-Quang Nguyen, Bert B A de Vries, Joris A Veltman, Chris P Ponting. PLoS Genet 2009
36
30

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
807
26

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders.
Charles Lee, A John Iafrate, Arthur R Brothman. Nat Genet 2007
271
23

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
21

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
21

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
21

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
195
21

Array analysis and karyotyping: workflow consequences based on a retrospective study of 36,325 patients with idiopathic developmental delay in the Netherlands.
Ron Hochstenbach, Ellen van Binsbergen, John Engelen, Aggie Nieuwint, Abeltje Polstra, Pino Poddighe, Claudia Ruivenkamp, Birgit Sikkema-Raddatz, Dominique Smeets, Martin Poot. Eur J Med Genet 2009
126
21

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
19

Challenges for CNV interpretation in clinical molecular karyotyping: lessons learned from a 1001 sample experience.
Karen Buysse, Barbara Delle Chiaie, Rudy Van Coster, Bart Loeys, Anne De Paepe, Geert Mortier, Frank Speleman, Björn Menten. Eur J Med Genet 2009
73
19

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
16

Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study.
Dominic J McMullan, Michael Bonin, Jayne Y Hehir-Kwa, Bert B A de Vries, Andreas Dufke, Eleanor Rattenberry, Marloes Steehouwer, Luminita Moruz, Rolph Pfundt, Nicole de Leeuw,[...]. Hum Mutat 2009
48
16

Genes and biological processes commonly disrupted in rare and heterogeneous developmental delay syndromes.
Tamim H Shaikh, Chad Haldeman-Englert, Elizabeth A Geiger, Chris P Ponting, Caleb Webber. Hum Mol Genet 2011
20
35

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
201
16

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
405
14

Guidelines for molecular karyotyping in constitutional genetic diagnosis.
Joris Robert Vermeesch, Heike Fiegler, Nicole de Leeuw, Karoly Szuhai, Jacqueline Schoumans, Roberto Ciccone, Frank Speleman, Anita Rauch, Jill Clayton-Smith, Conny Van Ravenswaaij,[...]. Eur J Hum Genet 2007
103
14

A de novo paradigm for mental retardation.
Lisenka E L M Vissers, Joep de Ligt, Christian Gilissen, Irene Janssen, Marloes Steehouwer, Petra de Vries, Bart van Lier, Peer Arts, Nienke Wieskamp, Marisol del Rosario,[...]. Nat Genet 2010
551
14

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first.
Antoinet C J Gijsbers, Janet Y K Lew, Cathy A J Bosch, Janneke H M Schuurs-Hoeijmakers, Arie van Haeringen, Nicolette S den Hollander, Sarina G Kant, Emilia K Bijlsma, Martijn H Breuning, Egbert Bakker,[...]. Eur J Hum Genet 2009
55
14


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
200
14

Diagnostic genome profiling in mental retardation.
Bert B A de Vries, Rolph Pfundt, Martijn Leisink, David A Koolen, Lisenka E L M Vissers, Irene M Janssen, Simon van Reijmersdal, Willy M Nillesen, Erik H L P G Huys, Nicole de Leeuw,[...]. Am J Hum Genet 2005
418
14

High-resolution mapping and analysis of copy number variations in the human genome: a data resource for clinical and research applications.
Tamim H Shaikh, Xiaowu Gai, Juan C Perin, Joseph T Glessner, Hongbo Xie, Kevin Murphy, Ryan O'Hara, Tracy Casalunovo, Laura K Conlin, Monica D'Arcy,[...]. Genome Res 2009
282
14

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
697
14

Array CGH in patients with learning disability (mental retardation) and congenital anomalies: updated systematic review and meta-analysis of 19 studies and 13,926 subjects.
Gurdeep S Sagoo, Adam S Butterworth, Simon Sanderson, Charles Shaw-Smith, Julian P T Higgins, Hilary Burton. Genet Med 2009
149
14

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
288
14

Diagnostic interpretation of array data using public databases and internet sources.
Nicole de Leeuw, Trijnie Dijkhuizen, Jayne Y Hehir-Kwa, Nigel P Carter, Lars Feuk, Helen V Firth, Robert M Kuhn, David H Ledbetter, Christa Lese Martin, Conny M A van Ravenswaaij-Arts,[...]. Hum Mutat 2012
69
14

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
357
14

Gene prioritization through genomic data fusion.
Stein Aerts, Diether Lambrechts, Sunit Maity, Peter Van Loo, Bert Coessens, Frederik De Smet, Leon-Charles Tranchevent, Bart De Moor, Peter Marynen, Bassem Hassan,[...]. Nat Biotechnol 2006
566
11

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
11

Online Mendelian Inheritance in Man (OMIM), a knowledgebase of human genes and genetic disorders.
Ada Hamosh, Alan F Scott, Joanna S Amberger, Carol A Bocchini, Victor A McKusick. Nucleic Acids Res 2005
11

Genomic microarrays in mental retardation: from copy number variation to gene, from research to diagnosis.
Lisenka E L M Vissers, Bert B A de Vries, Joris A Veltman. J Med Genet 2010
106
11

Structural variation in the human genome.
Lars Feuk, Andrew R Carson, Stephen W Scherer. Nat Rev Genet 2006
11

Fine-scale structural variation of the human genome.
Eray Tuzun, Andrew J Sharp, Jeffrey A Bailey, Rajinder Kaul, V Anne Morrison, Lisa M Pertz, Eric Haugen, Hillary Hayden, Donna Albertson, Daniel Pinkel,[...]. Nat Genet 2005
714
11

Gene ontology: tool for the unification of biology. The Gene Ontology Consortium.
M Ashburner, C A Ball, J A Blake, D Botstein, H Butler, J M Cherry, A P Davis, K Dolinski, S S Dwight, J T Eppig,[...]. Nat Genet 2000
11

Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities.
Lisenka E L M Vissers, Bert B A de Vries, Kazutoyo Osoegawa, Irene M Janssen, Ton Feuth, Chik On Choy, Huub Straatman, Walter van der Vliet, Erik H L P G Huys, Anke van Rijk,[...]. Am J Hum Genet 2003
344
11


Array CGH identifies reciprocal 16p13.1 duplications and deletions that predispose to autism and/or mental retardation.
Reinhard Ullmann, Gillian Turner, Maria Kirchhoff, Wei Chen, Bruce Tonge, Carla Rosenberg, Michael Field, Angela M Vianna-Morgante, Louise Christie, Ana C Krepischi-Santos,[...]. Hum Mutat 2007
206
11

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
227
11

Clinical and molecular delineation of the 17q21.31 microdeletion syndrome.
D A Koolen, A J Sharp, J A Hurst, H V Firth, S J L Knight, A Goldenberg, P Saugier-Veber, R Pfundt, L E L M Vissers, A Destrée,[...]. J Med Genet 2008
150
11

The mammalian phenotype ontology: enabling robust annotation and comparative analysis.
Cynthia L Smith, Janan T Eppig. Wiley Interdiscip Rev Syst Biol Med 2009
136
11


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.