A citation-based method for searching scientific literature

Harrison Brand, Vamsee Pillalamarri, Ryan L Collins, Stacey Eggert, Colm O'Dushlaine, Ellen B Braaten, Matthew R Stone, Kimberly Chambert, Nathan D Doty, Carrie Hanscom, Jill A Rosenfeld, Hillary Ditmars, Jessica Blais, Ryan Mills, Charles Lee, James F Gusella, Steven McCarroll, Jordan W Smoller, Michael E Talkowski, Alysa E Doyle. Am J Hum Genet 2014
Times Cited: 33







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



Times Cited
  Times     Co-cited
Similarity


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
170
36

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
714
33

Next-generation sequencing strategies enable routine detection of balanced chromosome rearrangements for clinical diagnostics and genetic research.
Michael E Talkowski, Carl Ernst, Adrian Heilbut, Colby Chiang, Carrie Hanscom, Amelia Lindgren, Andrew Kirby, Shangtao Liu, Bhavana Muddukrishna, Toshiro K Ohsumi,[...]. Am J Hum Genet 2011
120
33

Clinical diagnosis by whole-genome sequencing of a prenatal sample.
Michael E Talkowski, Zehra Ordulu, Vamsee Pillalamarri, Carol B Benson, Ian Blumenthal, Susan Connolly, Carrie Hanscom, Naveed Hussain, Shahrin Pereira, Jonathan Picker,[...]. N Engl J Med 2012
120
33

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Michael E Talkowski, Jill A Rosenfeld, Ian Blumenthal, Vamsee Pillalamarri, Colby Chiang, Adrian Heilbut, Carl Ernst, Carrie Hanscom, Elizabeth Rossin, Amelia M Lindgren,[...]. Cell 2012
385
33

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation.
Harrison Brand, Ryan L Collins, Carrie Hanscom, Jill A Rosenfeld, Vamsee Pillalamarri, Matthew R Stone, Fontina Kelley, Tamara Mason, Lauren Margolin, Stacey Eggert,[...]. Am J Hum Genet 2015
29
37


Characterization of apparently balanced chromosomal rearrangements from the developmental genome anatomy project.
Anne W Higgins, Fowzan S Alkuraya, Amy F Bosco, Kerry K Brown, Gail A P Bruns, Diana J Donovan, Robert Eisenman, Yanli Fan, Chantal G Farra, Heather L Ferguson,[...]. Am J Hum Genet 2008
76
24

Resolving the complexity of the human genome using single-molecule sequencing.
Mark J P Chaisson, John Huddleston, Megan Y Dennis, Peter H Sudmant, Maika Malig, Fereydoun Hormozdiari, Francesca Antonacci, Urvashi Surti, Richard Sandstrom, Matthew Boitano,[...]. Nature 2015
393
24

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
286
21

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
21

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
300
21

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline.
Wigard P Kloosterman, Victor Guryev, Mark van Roosmalen, Karen J Duran, Ewart de Bruijn, Saskia C M Bakker, Tom Letteboer, Bernadette van Nesselrooij, Ron Hochstenbach, Martin Poot,[...]. Hum Mol Genet 2011
206
21

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
21

LUMPY: a probabilistic framework for structural variant discovery.
Ryan M Layer, Colby Chiang, Aaron R Quinlan, Ira M Hall. Genome Biol 2014
582
21

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
21

Genome structural variation discovery and genotyping.
Can Alkan, Bradley P Coe, Evan E Eichler. Nat Rev Genet 2011
759
21

Topological domains in mammalian genomes identified by analysis of chromatin interactions.
Jesse R Dixon, Siddarth Selvaraj, Feng Yue, Audrey Kim, Yan Li, Yin Shen, Ming Hu, Jun S Liu, Bing Ren. Nature 2012
21

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
999
21


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
18

Structural variation in the human genome and its role in disease.
Paweł Stankiewicz, James R Lupski. Annu Rev Med 2010
676
18

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
154
18

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
769
18

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

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
18

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
128
15

Mechanisms of change in gene copy number.
P J Hastings, James R Lupski, Susan M Rosenberg, Grzegorz Ira. Nat Rev Genet 2009
731
15

The strength of combined cytogenetic and mate-pair sequencing techniques illustrated by a germline chromothripsis rearrangement involving FOXP2.
Lusine Nazaryan, Eunice G Stefanou, Claus Hansen, Nadezda Kosyakova, Mads Bak, Freddie H Sharkey, Theodora Mantziou, Anastasios D Papanastasiou, Voula Velissariou, Thomas Liehr,[...]. Eur J Hum Genet 2014
39
15


Prenatal diagnosis of chromothripsis, with nine breaks characterized by karyotyping, FISH, microarray and whole-genome sequencing.
M J Macera, A Sobrino, B Levy, V Jobanputra, V Aggarwal, A Mills, C Esteves, C Hanscom, S Pereira, V Pillalamarri,[...]. Prenat Diagn 2015
24
20

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
15

The contribution of de novo coding mutations to autism spectrum disorder.
Ivan Iossifov, Brian J O'Roak, Stephan J Sanders, Michael Ronemus, Niklas Krumm, Dan Levy, Holly A Stessman, Kali T Witherspoon, Laura Vives, Karynne E Patterson,[...]. Nature 2014
15

De novo mutations in schizophrenia implicate synaptic networks.
Menachem Fromer, Andrew J Pocklington, David H Kavanagh, Hywel J Williams, Sarah Dwyer, Padhraig Gormley, Lyudmila Georgieva, Elliott Rees, Priit Palta, Douglas M Ruderfer,[...]. Nature 2014
998
15

A polygenic burden of rare disruptive mutations in schizophrenia.
Shaun M Purcell, Jennifer L Moran, Menachem Fromer, Douglas Ruderfer, Nadia Solovieff, Panos Roussos, Colm O'Dushlaine, Kimberly Chambert, Sarah E Bergen, Anna Kähler,[...]. Nature 2014
897
15

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
942
15

Describing sequencing results of structural chromosome rearrangements with a suggested next-generation cytogenetic nomenclature.
Zehra Ordulu, Kristen E Wong, Benjamin B Currall, Andrew R Ivanov, Shahrin Pereira, Sara Althari, James F Gusella, Michael E Talkowski, Cynthia C Morton. Am J Hum Genet 2014
34
15

Sambamba: fast processing of NGS alignment formats.
Artem Tarasov, Albert J Vilella, Edwin Cuppen, Isaac J Nijman, Pjotr Prins. Bioinformatics 2015
482
15

Assembly and diploid architecture of an individual human genome via single-molecule technologies.
Matthew Pendleton, Robert Sebra, Andy Wing Chun Pang, Ajay Ummat, Oscar Franzen, Tobias Rausch, Adrian M Stütz, William Stedman, Thomas Anantharaman, Alex Hastie,[...]. Nat Methods 2015
277
15

De novo gene disruptions in children on the autistic spectrum.
Ivan Iossifov, Michael Ronemus, Dan Levy, Zihua Wang, Inessa Hakker, Julie Rosenbaum, Boris Yamrom, Yoon-Ha Lee, Giuseppe Narzisi, Anthony Leotta,[...]. Neuron 2012
916
15

De novo mutations revealed by whole-exome sequencing are strongly associated with autism.
Stephan J Sanders, Michael T Murtha, Abha R Gupta, John D Murdoch, Melanie J Raubeson, A Jeremy Willsey, A Gulhan Ercan-Sencicek, Nicholas M DiLullo, Neelroop N Parikshak, Jason L Stein,[...]. Nature 2012
15

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.
Claire Redin, Harrison Brand, Ryan L Collins, Tammy Kammin, Elyse Mitchell, Jennelle C Hodge, Carrie Hanscom, Vamsee Pillalamarri, Catarina M Seabra, Mary-Alice Abbott,[...]. Nat Genet 2017
135
15

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
15

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
820
12

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
655
12

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
90
12

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
216
12

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
81
12

Chromothripsis in healthy individuals affects multiple protein-coding genes and can result in severe congenital abnormalities in offspring.
Mirjam S de Pagter, Markus J van Roosmalen, Annette F Baas, Ivo Renkens, Karen J Duran, Ellen van Binsbergen, Masoumeh Tavakoli-Yaraki, Ron Hochstenbach, Lars T van der Veken, Edwin Cuppen,[...]. Am J Hum Genet 2015
49
12

Chromothripsis: potential origin in gametogenesis and preimplantation cell divisions. A review.
Franck Pellestor, Vincent Gatinois, Jacques Puechberty, David Geneviève, Geneviève Lefort. Fertil Steril 2014
41
12


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.