A citation-based method for searching scientific literature

David A Koolen, Lisenka E L M Vissers, Rolph Pfundt, Nicole de Leeuw, Samantha J L Knight, Regina Regan, R Frank Kooy, Edwin Reyniers, Corrado Romano, Marco Fichera, Albert Schinzel, Alessandra Baumer, Britt-Marie Anderlid, Jacqueline Schoumans, Nine V Knoers, Ad Geurts van Kessel, Erik A Sistermans, Joris A Veltman, Han G Brunner, Bert B A de Vries. Nat Genet 2006
Times Cited: 299







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



Times Cited
  Times     Co-cited
Similarity


Microdeletion encompassing MAPT at chromosome 17q21.3 is associated with developmental delay and learning disability.
Charles Shaw-Smith, Alan M Pittman, Lionel Willatt, Howard Martin, Lisa Rickman, Susan Gribble, Rebecca Curley, Sally Cumming, Carolyn Dunn, Dimitrios Kalaitzopoulos,[...]. Nat Genet 2006
256
46

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
429
41

Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome.
David A Koolen, Jamie M Kramer, Kornelia Neveling, Willy M Nillesen, Heather L Moore-Barton, Frances V Elmslie, Annick Toutain, Jeanne Amiel, Valérie Malan, Anne Chun-Hui Tsai,[...]. Nat Genet 2012
129
33

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
32

Mutations in KANSL1 cause the 17q21.31 microdeletion syndrome phenotype.
Marcella Zollino, Daniela Orteschi, Marina Murdolo, Serena Lattante, Domenica Battaglia, Chiara Stefanini, Eugenio Mercuri, Pietro Chiurazzi, Giovanni Neri, Giuseppe Marangi. Nat Genet 2012
91
32

A common inversion under selection in Europeans.
Hreinn Stefansson, Agnar Helgason, Gudmar Thorleifsson, Valgerdur Steinthorsdottir, Gisli Masson, John Barnard, Adam Baker, Aslaug Jonasdottir, Andres Ingason, Vala G Gudnadottir,[...]. Nat Genet 2005
530
26

Phenotypic expansion and further characterisation of the 17q21.31 microdeletion syndrome.
T Y Tan, S Aftimos, L Worgan, R Susman, M Wilson, S Ghedia, E P Kirk, D Love, A Ronan, A Darmanian,[...]. J Med Genet 2009
46
41

Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation.
Christèle Dubourg, Damien Sanlaville, Martine Doco-Fenzy, Cédric Le Caignec, Chantal Missirian, Sylvie Jaillard, Caroline Schluth-Bolard, Emilie Landais, Odile Boute, Nicole Philip,[...]. Eur J Med Genet 2011
41
43

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
803
18

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.
David A Koolen, Rolph Pfundt, Katrin Linda, Gea Beunders, Hermine E Veenstra-Knol, Jessie H Conta, Ana Maria Fortuna, Gabriele Gillessen-Kaesbach, Sarah Dugan, Sara Halbach,[...]. Eur J Hum Genet 2016
44
36

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
403
15

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
15

Evolutionary toggling of the MAPT 17q21.31 inversion region.
Michael C Zody, Zhaoshi Jiang, Hon-Chung Fung, Francesca Antonacci, LaDeana W Hillier, Maria Francesca Cardone, Tina A Graves, Jeffrey M Kidd, Ze Cheng, Amr Abouelleil,[...]. Nat Genet 2008
119
14

Mapping and sequencing of structural variation from eight human genomes.
Jeffrey M Kidd, Gregory M Cooper, William F Donahue, Hillary S Hayden, Nick Sampas, Tina Graves, Nancy Hansen, Brian Teague, Can Alkan, Francesca Antonacci,[...]. Nature 2008
765
14

Structural diversity and African origin of the 17q21.31 inversion polymorphism.
Karyn Meltz Steinberg, Francesca Antonacci, Peter H Sudmant, Jeffrey M Kidd, Catarina D Campbell, Laura Vives, Maika Malig, Laura Scheinfeldt, William Beggs, Muntaser Ibrahim,[...]. Nat Genet 2012
74
18

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
13

A 1.5 million-base pair inversion polymorphism in families with Williams-Beuren syndrome.
L R Osborne, M Li, B Pober, D Chitayat, J Bodurtha, A Mandel, T Costa, T Grebe, S Cox, L C Tsui,[...]. Nat Genet 2001
217
12

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
930
11

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
514
11

A further contribution to the delineation of the 17q21.31 microdeletion syndrome: central nervous involvement in two Italian patients.
Gaetano Terrone, Alessandra D'Amico, Floriana Imperati, Massimo Carella, Orazio Palumbo, Mattia Gentile, Roberto Berni Canani, Daniela Melis, Alfonso Romano, Iolanda Parente,[...]. Eur J Med Genet 2012
14
78

Structural variation in the human genome and its role in disease.
Paweł Stankiewicz, James R Lupski. Annu Rev Med 2010
670
10

Segmental duplications and copy-number variation in the human genome.
Andrew J Sharp, Devin P Locke, Sean D McGrath, Ze Cheng, Jeffrey A Bailey, Rhea U Vallente, Lisa M Pertz, Royden A Clark, Stuart Schwartz, Rick Segraves,[...]. Am J Hum Genet 2005
661
10

Characterization of six human disease-associated inversion polymorphisms.
Francesca Antonacci, Jeffrey M Kidd, Tomas Marques-Bonet, Mario Ventura, Priscillia Siswara, Zhaoshi Jiang, Evan E Eichler. Hum Mol Genet 2009
81
12

Segmental duplications: organization and impact within the current human genome project assembly.
J A Bailey, A M Yavor, H F Massa, B J Trask, E E Eichler. Genome Res 2001
474
9

A 17q21.31 microdeletion encompassing the MAPT gene in a mentally impaired patient.
M C Varela, A C V Krepischi-Santos, J A Paz, J Knijnenburg, K Szuhai, C Rosenberg, C P Koiffmann. Cytogenet Genome Res 2006
37
24

Large recurrent microdeletions associated with schizophrenia.
Hreinn Stefansson, Dan Rujescu, Sven Cichon, Olli P H Pietiläinen, Andres Ingason, Stacy Steinberg, Ragnheidur Fossdal, Engilbert Sigurdsson, Thordur Sigmundsson, Jacobine E Buizer-Voskamp,[...]. Nature 2008
9

17q21.31 microduplication patients are characterised by behavioural problems and poor social interaction.
B Grisart, L Willatt, A Destrée, J-P Fryns, K Rack, T de Ravel, J Rosenfeld, J R Vermeesch, C Verellen-Dumoulin, R Sandford. J Med Genet 2009
37
24


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
9

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
286
9

Intragenic KANSL1 mutations and chromosome 17q21.31 deletions: broadening the clinical spectrum and genotype-phenotype correlations in a large cohort of patients.
Marcella Zollino, Giuseppe Marangi, Emanuela Ponzi, Daniela Orteschi, Stefania Ricciardi, Serena Lattante, Marina Murdolo, Domenica Battaglia, Ilaria Contaldo, Eugenio Mercuri,[...]. J Med Genet 2015
20
45

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
8

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
8


Association of missense and 5'-splice-site mutations in tau with the inherited dementia FTDP-17.
M Hutton, C L Lendon, P Rizzu, M Baker, S Froelich, H Houlden, S Pickering-Brown, S Chakraverty, A Isaacs, A Grover,[...]. Nature 1998
8

Paired-end mapping reveals extensive structural variation in the human genome.
Jan O Korbel, Alexander Eckehart Urban, Jason P Affourtit, Brian Godwin, Fabian Grubert, Jan Fredrik Simons, Philip M Kim, Dean Palejev, Nicholas J Carriero, Lei Du,[...]. Science 2007
762
8

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
920
8

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
8

Detection of clinically relevant exonic copy-number changes by array CGH.
Philip M Boone, Carlos A Bacino, Chad A Shaw, Patricia A Eng, Patricia M Hixson, Amber N Pursley, Sung-Hae L Kang, Yaping Yang, Joanna Wiszniewska, Beata A Nowakowska,[...]. Hum Mutat 2010
182
8

Mechanisms for recurrent and complex human genomic rearrangements.
Pengfei Liu, Claudia M B Carvalho, P J Hastings, James R Lupski. Curr Opin Genet Dev 2012
214
8

Structural haplotypes and recent evolution of the human 17q21.31 region.
Linda M Boettger, Robert E Handsaker, Michael C Zody, Steven A McCarroll. Nat Genet 2012
64
12


Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions.
Giorgio Gimelli, Miguel Angel Pujana, Maria Grazia Patricelli, Silvia Russo, Daniela Giardino, Lidia Larizza, Joseph Cheung, Lluís Armengol, Albert Schinzel, Xavier Estivill,[...]. Hum Mol Genet 2003
94
8

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
323
8

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
411
7


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
7


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
389
7

The DNA replication FoSTeS/MMBIR mechanism can generate genomic, genic and exonic complex rearrangements in humans.
Feng Zhang, Mehrdad Khajavi, Anne M Connolly, Charles F Towne, Sat Dev Batish, James R Lupski. Nat Genet 2009
295
7


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.