A citation-based method for searching scientific literature

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, Dominique Smeets, Erik A Sistermans, Ton Feuth, Conny M A van Ravenswaaij-Arts, Ad Geurts van Kessel, Eric F P M Schoenmakers, Han G Brunner, Joris A Veltman. Am J Hum Genet 2005
Times Cited: 416







List of co-cited articles
610 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
32

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
24

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
18

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

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
17

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
342
16

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
16


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
13

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
13

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
12


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
12

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
12

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
12

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
541
12

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
12

Diagnostic exome sequencing in persons with severe intellectual disability.
Joep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, Tjitske Kleefstra, Helger G Yntema, Thessa Kroes, Anneke T Vulto-van Silfhout, David A Koolen, Petra de Vries, Christian Gilissen,[...]. N Engl J Med 2012
961
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
11

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
417
11

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
11

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
11


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
10

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
353
10

Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports.
B Menten, N Maas, B Thienpont, K Buysse, J Vandesompele, C Melotte, T de Ravel, S Van Vooren, I Balikova, L Backx,[...]. J Med Genet 2006
313
9

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
146
9

Genome structural variation discovery and genotyping.
Can Alkan, Bradley P Coe, Evan E Eichler. Nat Rev Genet 2011
736
9

Duplication hotspots, rare genomic disorders, and common disease.
Heather C Mefford, Evan E Eichler. Curr Opin Genet Dev 2009
153
9

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Anita Rauch, Dagmar Wieczorek, Elisabeth Graf, Thomas Wieland, Sabine Endele, Thomas Schwarzmayr, Beate Albrecht, Deborah Bartholdi, Jasmin Beygo, Nataliya Di Donato,[...]. Lancet 2012
657
9


Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation.
Janine Wagenstaller, Stephanie Spranger, Bettina Lorenz-Depiereux, Bernd Kazmierczak, Michaela Nathrath, Dagmar Wahl, Babett Heye, Dieter Glaser, Volkmar Liebscher, Thomas Meitinger,[...]. Am J Hum Genet 2007
102
8

Assessment of 2q23.1 microdeletion syndrome implicates MBD5 as a single causal locus of intellectual disability, epilepsy, and autism spectrum disorder.
Michael E Talkowski, Sureni V Mullegama, Jill A Rosenfeld, Bregje W M van Bon, Yiping Shen, Elena A Repnikova, Julie Gastier-Foster, Devon Lamb Thrush, Sekar Kathiresan, Douglas M Ruderfer,[...]. Am J Hum Genet 2011
139
8

Detection of chromosomal imbalances in children with idiopathic mental retardation by array based comparative genomic hybridisation (array-CGH).
J Schoumans, C Ruivenkamp, E Holmberg, M Kyllerman, B-M Anderlid, M Nordenskjöld. J Med Genet 2005
144
8

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
124
8

Copy number variations and clinical cytogenetic diagnosis of constitutional disorders.
Charles Lee, A John Iafrate, Arthur R Brothman. Nat Genet 2007
270
8

Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness.
Clara D M van Karnebeek, Maaike C E Jansweijer, Arnold G E Leenders, Martin Offringa, Raoul C M Hennekam. Eur J Hum Genet 2005
150
8


Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.
Heather C Mefford, Hiltrud Muhle, Philipp Ostertag, Sarah von Spiczak, Karen Buysse, Carl Baker, Andre Franke, Alain Malafosse, Pierre Genton, Pierre Thomas,[...]. PLoS Genet 2010
327
8

Structural variation in the human genome.
Lars Feuk, Andrew R Carson, Stephen W Scherer. Nat Rev Genet 2006
8

Genome sequencing identifies major causes of severe intellectual disability.
Christian Gilissen, Jayne Y Hehir-Kwa, Djie Tjwan Thung, Maartje van de Vorst, Bregje W M van Bon, Marjolein H Willemsen, Michael Kwint, Irene M Janssen, Alexander Hoischen, Annette Schenck,[...]. Nature 2014
619
8

The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype.
Bregje W M van Bon, David A Koolen, Louise Brueton, Dominic McMullan, Klaske D Lichtenbelt, Lesley C Adès, Gregory Peters, Kate Gibson, Susan Moloney, Francesca Novara,[...]. Eur J Hum Genet 2010
60
11

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
7

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
7

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
199
7

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
461
7

Mapping copy number variation by population-scale genome sequencing.
Ryan E Mills, Klaudia Walter, Chip Stewart, Robert E Handsaker, Ken Chen, Can Alkan, Alexej Abyzov, Seungtai Chris Yoon, Kai Ye, R Keira Cheetham,[...]. Nature 2011
698
7

15q13.3 microdeletions increase risk of idiopathic generalized epilepsy.
Ingo Helbig, Heather C Mefford, Andrew J Sharp, Michel Guipponi, Marco Fichera, Andre Franke, Hiltrud Muhle, Carolien de Kovel, Carl Baker, Sarah von Spiczak,[...]. Nat Genet 2009
394
7

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
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
773
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.