A citation-based method for searching scientific literature

Scott Newman, Karen E Hermetz, Brooke Weckselblatt, M Katharine Rudd. Am J Hum Genet 2015
Times Cited: 80







List of co-cited articles
367 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
18

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
909
15

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.
Hutton M Kearney, Erik C Thorland, Kerry K Brown, Fabiola Quintero-Rivera, Sarah T South. Genet Med 2011
511
15

The Database of Genomic Variants: a curated collection of structural variation in the human genome.
Jeffrey R MacDonald, Robert Ziman, Ryan K C Yuen, Lars Feuk, Stephen W Scherer. Nucleic Acids Res 2014
625
13

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
12


Mechanisms of change in gene copy number.
P J Hastings, James R Lupski, Susan M Rosenberg, Grzegorz Ira. Nat Rev Genet 2009
713
11

Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
11


Mutation spectrum revealed by breakpoint sequencing of human germline CNVs.
Donald F Conrad, Christine Bird, Ben Blackburne, Sarah Lindsay, Lira Mamanova, Charles Lee, Daniel J Turner, Matthew E Hurles. Nat Genet 2010
174
8

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
799
8

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

Structural variation in the human genome and its role in disease.
Paweł Stankiewicz, James R Lupski. Annu Rev Med 2010
667
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
213
8

Disruptions of topological chromatin domains cause pathogenic rewiring of gene-enhancer interactions.
Darío G Lupiáñez, Katerina Kraft, Verena Heinrich, Peter Krawitz, Francesco Brancati, Eva Klopocki, Denise Horn, Hülya Kayserili, John M Opitz, Renata Laxova,[...]. Cell 2015
878
8

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
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

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
697
7

Replicative mechanisms for CNV formation are error prone.
Claudia M B Carvalho, Davut Pehlivan, Melissa B Ramocki, Ping Fang, Benjamin Alleva, Luis M Franco, John W Belmont, P J Hastings, James R Lupski. Nat Genet 2013
87
7

The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Philip M Boone, Bo Yuan, Ian M Campbell, Jennifer C Scull, Marjorie A Withers, Brett C Baggett, Christine R Beck, Christine J Shaw, Pawel Stankiewicz, Paolo Moretti,[...]. Am J Hum Genet 2014
59
10

The Sequence Alignment/Map format and SAMtools.
Heng Li, Bob Handsaker, Alec Wysoker, Tim Fennell, Jue Ruan, Nils Homer, Gabor Marth, Goncalo Abecasis, Richard Durbin. Bioinformatics 2009
7

A copy number variation map of the human genome.
Mehdi Zarrei, Jeffrey R MacDonald, Daniele Merico, Stephen W Scherer. Nat Rev Genet 2015
362
7

Insertional translocation detected using FISH confirmation of array-comparative genomic hybridization (aCGH) results.
Sung-Hae L Kang, Chad Shaw, Zhishuo Ou, Patricia A Eng, M Lance Cooper, Amber N Pursley, Trilochan Sahoo, Carlos A Bacino, A Craig Chinault, Pawel Stankiewicz,[...]. Am J Med Genet A 2010
66
9

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
617
7

Human Structural Variation: Mechanisms of Chromosome Rearrangements.
Brooke Weckselblatt, M Katharine Rudd. Trends Genet 2015
90
7

Mechanisms underlying structural variant formation in genomic disorders.
Claudia M B Carvalho, James R Lupski. Nat Rev Genet 2016
259
7


Formation of chimeric genes by copy-number variation as a mutational mechanism in schizophrenia.
Caitlin Rippey, Tom Walsh, Suleyman Gulsuner, Matt Brodsky, Alex S Nord, Molly Gasperini, Sarah Pierce, Cailyn Spurrell, Bradley P Coe, Niklas Krumm,[...]. Am J Hum Genet 2013
27
18

Dosage changes of a segment at 17p13.1 lead to intellectual disability and microcephaly as a result of complex genetic interaction of multiple genes.
Claudia M B Carvalho, Shivakumar Vasanth, Marwan Shinawi, Chad Russell, Melissa B Ramocki, Chester W Brown, Jesper Graakjaer, Anne-Bine Skytte, Angela M Vianna-Morgante, Ana C V Krepischi,[...]. Am J Hum Genet 2014
28
17

Genome structural variation discovery and genotyping.
Can Alkan, Bradley P Coe, Evan E Eichler. Nat Rev Genet 2011
729
6

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
350
6

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome.
Claudia M B Carvalho, Melissa B Ramocki, Davut Pehlivan, Luis M Franco, Claudia Gonzaga-Jauregui, Ping Fang, Alanna McCall, Eniko Karman Pivnick, Stacy Hines-Dowell, Laurie H Seaver,[...]. Nat Genet 2011
119
6


Large inverted duplications in the human genome form via a fold-back mechanism.
Karen E Hermetz, Scott Newman, Karen N Conneely, Christa L Martin, Blake C Ballif, Lisa G Shaffer, Jannine D Cody, M Katharine Rudd. PLoS Genet 2014
32
15

Nonallelic homologous recombination between retrotransposable elements is a driver of de novo unbalanced translocations.
Caroline Robberecht, Thierry Voet, Masoud Zamani Esteki, Beata A Nowakowska, Joris R Vermeesch. Genome Res 2013
51
9

Chromosome catastrophes involve replication mechanisms generating complex genomic rearrangements.
Pengfei Liu, Ayelet Erez, Sandesh C Sreenath Nagamani, Shweta U Dhar, Katarzyna E Kołodziejska, Avinash V Dharmadhikari, M Lance Cooper, Joanna Wiszniewska, Feng Zhang, Marjorie A Withers,[...]. Cell 2011
278
6

Massive genomic rearrangement acquired in a single catastrophic event during cancer development.
Philip J Stephens, Chris D Greenman, Beiyuan Fu, Fengtang Yang, Graham R Bignell, Laura J Mudie, Erin D Pleasance, King Wai Lau, David Beare, Lucy A Stebbings,[...]. Cell 2011
6

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration.
Colby Chiang, Jessie C Jacobsen, Carl Ernst, Carrie Hanscom, Adrian Heilbut, Ian Blumenthal, Ryan E Mills, Andrew Kirby, Amelia M Lindgren, Skye R Rudiger,[...]. Nat Genet 2012
167
6

Constitutional chromothripsis rearrangements involve clustered double-stranded DNA breaks and nonhomologous repair mechanisms.
Wigard P Kloosterman, Masoumeh Tavakoli-Yaraki, Markus J van Roosmalen, Ellen van Binsbergen, Ivo Renkens, Karen Duran, Lucia Ballarati, Sarah Vergult, Daniela Giardino, Kerstin Hansson,[...]. Cell Rep 2012
149
6

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
284
6

Absence of heterozygosity due to template switching during replicative rearrangements.
Claudia M B Carvalho, Rolph Pfundt, Daniel A King, Sarah J Lindsay, Luciana W Zuccherato, Merryn V E Macville, Pengfei Liu, Diana Johnson, Pawel Stankiewicz, Chester W Brown,[...]. Am J Hum Genet 2015
35
14


The human genome browser at UCSC.
W James Kent, Charles W Sugnet, Terrence S Furey, Krishna M Roskin, Tom H Pringle, Alan M Zahler, David Haussler. Genome Res 2002
6

An integrated map of structural variation in 2,504 human genomes.
Peter H Sudmant, Tobias Rausch, Eugene J Gardner, Robert E Handsaker, Alexej Abyzov, John Huddleston, Yan Zhang, Kai Ye, Goo Jun, Markus Hsi-Yang Fritz,[...]. Nature 2015
927
6

Deletions of chromosomal regulatory boundaries are associated with congenital disease.
Jonas Ibn-Salem, Sebastian Köhler, Michael I Love, Ho-Ryun Chung, Ni Huang, Matthew E Hurles, Melissa Haendel, Nicole L Washington, Damian Smedley, Christopher J Mungall,[...]. Genome Biol 2014
81
5

Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Santhosh Girirajan, Zoran Brkanac, Bradley P Coe, Carl Baker, Laura Vives, Tiffany H Vu, Neil Shafer, Raphael Bernier, Giovanni B Ferrero, Margherita Silengo,[...]. PLoS Genet 2011
204
5

Olfactory receptor-gene clusters, genomic-inversion polymorphisms, and common chromosome rearrangements.
S Giglio, K W Broman, N Matsumoto, V Calvari, G Gimelli, T Neumann, H Ohashi, L Voullaire, D Larizza, R Giorda,[...]. Am J Hum Genet 2001
268
5


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

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
316
5


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.