A citation-based method for searching scientific literature

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, Wendy E Goodwin, Nichole Hein, John K Fink, Moon-Woo Seong, Soo Hyun Seo, Sung Sup Park, Izabela D Karbassi, Sat Dev Batish, Andrés Ordóñez-Ugalde, Beatriz Quintáns, María-Jesús Sobrido, Susanne Stemmler, James R Lupski. Am J Hum Genet 2014
Times Cited: 60







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



Times Cited
  Times     Co-cited
Similarity




Alu-mediated diverse and complex pathogenic copy-number variants within human chromosome 17 at p13.3.
Shen Gu, Bo Yuan, Ian M Campbell, Christine R Beck, Claudia M B Carvalho, Sandesh C S Nagamani, Ayelet Erez, Ankita Patel, Carlos A Bacino, Chad A Shaw,[...]. Hum Mol Genet 2015
53
33

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
89
25

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
298
25

Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia.
Philip M Boone, Pengfei Liu, Feng Zhang, Claudia M B Carvalho, Charles F Towne, Sat Dev Batish, James R Lupski. Genet Med 2011
39
38

Mechanisms underlying structural variant formation in genomic disorders.
Claudia M B Carvalho, James R Lupski. Nat Rev Genet 2016
273
25

Initial sequencing and analysis of the human genome.
E S Lander, L M Linton, B Birren, C Nusbaum, M C Zody, J Baldwin, K Devon, K Dewar, M Doyle, W FitzHugh,[...]. Nature 2001
21

NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits.
Piotr Dittwald, Tomasz Gambin, Przemyslaw Szafranski, Jian Li, Stephen Amato, Michael Y Divon, Lisa Ximena Rodríguez Rojas, Lindsay E Elton, Daryl A Scott, Christian P Schaaf,[...]. Genome Res 2013
78
20

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
126
20

Mechanisms of change in gene copy number.
P J Hastings, James R Lupski, Susan M Rosenberg, Grzegorz Ira. Nat Rev Genet 2009
719
20

Rare pathogenic microdeletions and tandem duplications are microhomology-mediated and stimulated by local genomic architecture.
Lisenka E L M Vissers, Samarth S Bhatt, Irene M Janssen, Zhilian Xia, Seema R Lalani, Rolph Pfundt, Katarzyna Derwinska, Bert B A de Vries, Christian Gilissen, Alexander Hoischen,[...]. Hum Mol Genet 2009
119
18

Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over.
Pengfei Liu, Melanie Lacaria, Feng Zhang, Marjorie Withers, P J Hastings, James R Lupski. Am J Hum Genet 2011
74
18

Structural variation in the human genome and its role in disease.
Paweł Stankiewicz, James R Lupski. Annu Rev Med 2010
674
16

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
282
16

Alu repeats and human disease.
P L Deininger, M A Batzer. Mol Genet Metab 1999
629
16

Genome-wide analyses of LINE-LINE-mediated nonallelic homologous recombination.
Michał Startek, Przemyslaw Szafranski, Tomasz Gambin, Ian M Campbell, Patricia Hixson, Chad A Shaw, Paweł Stankiewicz, Anna Gambin. Nucleic Acids Res 2015
45
22

DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage.
Ryan Mayle, Ian M Campbell, Christine R Beck, Yang Yu, Marenda Wilson, Chad A Shaw, Lotte Bjergbaek, James R Lupski, Grzegorz Ira. Science 2015
121
16

Human endogenous retroviral elements promote genome instability via non-allelic homologous recombination.
Ian M Campbell, Tomasz Gambin, Piotr Dittwald, Christine R Beck, Andrey Shuvarikov, Patricia Hixson, Ankita Patel, Anna Gambin, Chad A Shaw, Jill A Rosenfeld,[...]. BMC Biol 2014
40
22

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
15

Mechanisms for nonrecurrent genomic rearrangements associated with CMT1A or HNPP: rare CNVs as a cause for missing heritability.
Feng Zhang, Pavel Seeman, Pengfei Liu, Marian A J Weterman, Claudia Gonzaga-Jauregui, Charles F Towne, Sat Dev Batish, Els De Vriendt, Peter De Jonghe, Bernd Rautenstrauss,[...]. Am J Hum Genet 2010
90
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
53
15

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia.
Christel Depienne, Estelle Fedirko, Sylvie Forlani, Cécile Cazeneuve, Pascale Ribaï, Imed Feki, Chantal Tallaksen, Karine Nguyen, Bruno Stankoff, Merle Ruberg,[...]. J Med Genet 2007
84
13


Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.
Hannah Verdin, Barbara D'haene, Diane Beysen, Yana Novikova, Björn Menten, Tom Sante, Pablo Lapunzina, Julian Nevado, Claudia M B Carvalho, James R Lupski,[...]. PLoS Genet 2013
56
12

A human genome structural variation sequencing resource reveals insights into mutational mechanisms.
Jeffrey M Kidd, Tina Graves, Tera L Newman, Robert Fulton, Hillary S Hayden, Maika Malig, Joelle Kallicki, Rajinder Kaul, Richard K Wilson, Evan E Eichler. Cell 2010
188
11

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
11

Alu repeats and human genomic diversity.
Mark A Batzer, Prescott L Deininger. Nat Rev Genet 2002
912
11

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia.
J Hazan, N Fonknechten, D Mavel, C Paternotte, D Samson, F Artiguenave, C S Davoine, C Cruaud, A Dürr, P Wincker,[...]. Nat Genet 1999
457
11

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia.
N Fonknechten, D Mavel, P Byrne, C S Davoine, C Cruaud, D Bönsch, D Samson, P Coutinho, M Hutchinson, P McMonagle,[...]. Hum Mol Genet 2000
217
11

Molecular findings among patients referred for clinical whole-exome sequencing.
Yaping Yang, Donna M Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia Ward, Alicia Braxton, Min Wang, Christian Buhay,[...]. JAMA 2014
798
11

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
37
18

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Jessica X Chong, Kati J Buckingham, Shalini N Jhangiani, Corinne Boehm, Nara Sobreira, Joshua D Smith, Tanya M Harrell, Margaret J McMillin, Wojciech Wiszniewski, Tomasz Gambin,[...]. Am J Hum Genet 2015
345
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

Break-induced replication is highly inaccurate.
Angela Deem, Andrea Keszthelyi, Tiffany Blackgrove, Alexandra Vayl, Barbara Coffey, Ruchi Mathur, Andrei Chabes, Anna Malkova. PLoS Biol 2011
185
10

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
10

Alu-Alu recombination underlies the vast majority of large VHL germline deletions: Molecular characterization and genotype-phenotype correlations in VHL patients.
Gerlind Franke, Birke Bausch, Michael M Hoffmann, Markus Cybulla, Christian Wilhelm, Jürgen Kohlhase, Gerd Scherer, Hartmut P H Neumann. Hum Mutat 2009
74
10

Genome architecture, rearrangements and genomic disorders.
Paweł Stankiewicz, James R Lupski. Trends Genet 2002
626
10

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
18

Tandem repeats and G-rich sequences are enriched at human CNV breakpoints.
Promita Bose, Karen E Hermetz, Karen N Conneely, M Katharine Rudd. PLoS One 2014
25
24

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
175
10

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
637
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
10

Genomic rearrangements resulting in PLP1 deletion occur by nonhomologous end joining and cause different dysmyelinating phenotypes in males and females.
Ken Inoue, Hitoshi Osaka, Virginia C Thurston, Joe T R Clarke, Akira Yoneyama, Lisa Rosenbarker, Thomas D Bird, M E Hodes, Lisa G Shaffer, James R Lupski. Am J Hum Genet 2002
121
10

Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.
Scott Newman, Karen E Hermetz, Brooke Weckselblatt, M Katharine Rudd. Am J Hum Genet 2015
80
10

Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia.
I K Svenson, A E Ashley-Koch, P C Gaskell, T J Riney, W J Cumming, H M Kingston, E L Hogan, R M Boustany, J M Vance, M A Nance,[...]. Am J Hum Genet 2001
104
10

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia.
C Beetz, A O H Nygren, J Schickel, M Auer-Grumbach, K Bürk, G Heide, J Kassubek, S Klimpe, T Klopstock, F Kreuz,[...]. Neurology 2006
105
10

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
624
10

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang, Donna M Muzny, Jeffrey G Reid, Matthew N Bainbridge, Alecia Willis, Patricia A Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu,[...]. N Engl J Med 2013
10


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.