A citation-based method for searching scientific literature

T Harel, J R Lupski. Clin Genet 2018
Times Cited: 33







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



Times Cited
  Times     Co-cited
Similarity


Mechanisms underlying structural variant formation in genomic disorders.
Claudia M B Carvalho, James R Lupski. Nat Rev Genet 2016
268
33

Structural variation in the human genome and its role in disease.
Paweł Stankiewicz, James R Lupski. Annu Rev Med 2010
670
21

An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Pengfei Liu, Bo Yuan, Claudia M B Carvalho, Arthur Wuster, Klaudia Walter, Ling Zhang, Tomasz Gambin, Zechen Chong, Ian M Campbell, Zeynep Coban Akdemir,[...]. Cell 2017
41
15

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
15

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
15

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
15

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

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.
Lauge Farnaes, Amber Hildreth, Nathaly M Sweeney, Michelle M Clark, Shimul Chowdhury, Shareef Nahas, Julie A Cakici, Wendy Benson, Robert H Kaplan, Richard Kronick,[...]. NPJ Genom Med 2018
126
12

Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Anath C Lionel, Gregory Costain, Nasim Monfared, Susan Walker, Miriam S Reuter, S Mohsen Hosseini, Bhooma Thiruvahindrapuram, Daniele Merico, Rebekah Jobling, Thomas Nalpathamkalam,[...]. Genet Med 2018
176
12


Clinical sequencing: is WGS the better WES?
Janine Meienberg, Rémy Bruggmann, Konrad Oexle, Gabor Matyas. Hum Genet 2016
122
12

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
513
12

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.
Justyna A Karolak, Marie Vincent, Gail Deutsch, Tomasz Gambin, Benjamin Cogné, Olivier Pichon, Francesco Vetrini, Heather C Mefford, Jennifer N Dines, Katie Golden-Grant,[...]. Am J Hum Genet 2019
36
12

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
792
12

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
12

Resolution of Disease Phenotypes Resulting from Multilocus Genomic Variation.
Jennifer E Posey, Tamar Harel, Pengfei Liu, Jill A Rosenfeld, Regis A James, Zeynep H Coban Akdemir, Magdalena Walkiewicz, Weimin Bi, Rui Xiao, Yan Ding,[...]. N Engl J Med 2017
316
12

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
12

Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.
Tomasz Gambin, Zeynep C Akdemir, Bo Yuan, Shen Gu, Theodore Chiang, Claudia M B Carvalho, Chad Shaw, Shalini Jhangiani, Philip M Boone, Mohammad K Eldomery,[...]. Nucleic Acids Res 2017
62
12

Coming of age: ten years of next-generation sequencing technologies.
Sara Goodwin, John D McPherson, W Richard McCombie. Nat Rev Genet 2016
12

De novo mutations in regulatory elements in neurodevelopmental disorders.
Patrick J Short, Jeremy F McRae, Giuseppe Gallone, Alejandro Sifrim, Hyejung Won, Daniel H Geschwind, Caroline F Wright, Helen V Firth, David R FitzPatrick, Jeffrey C Barrett,[...]. Nature 2018
95
12

Cytoscape: a software environment for integrated models of biomolecular interaction networks.
Paul Shannon, Andrew Markiel, Owen Ozier, Nitin S Baliga, Jonathan T Wang, Daniel Ramage, Nada Amin, Benno Schwikowski, Trey Ideker. Genome Res 2003
12

A structural variation reference for medical and population genetics.
Ryan L Collins, Harrison Brand, Konrad J Karczewski, Xuefang Zhao, Jessica Alföldi, Laurent C Francioli, Amit V Khera, Chelsea Lowther, Laura D Gauthier, Harold Wang,[...]. Nature 2020
106
12

Validation of copy number variation analysis for next-generation sequencing diagnostics.
Jamie M Ellingford, Christopher Campbell, Stephanie Barton, Sanjeev Bhaskar, Saurabh Gupta, Rachel L Taylor, Panagiotis I Sergouniotis, Bradley Horn, Janine A Lamb, Michel Michaelides,[...]. Eur J Hum Genet 2017
50
9

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
632
9

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
936
9

Recurrent reciprocal 16p11.2 rearrangements associated with global developmental delay, behavioural problems, dysmorphism, epilepsy, and abnormal head size.
Marwan Shinawi, Pengfei Liu, Sung-Hae L Kang, Joseph Shen, John W Belmont, Daryl A Scott, Frank J Probst, William J Craigen, Brett H Graham, Amber Pursley,[...]. J Med Genet 2010
317
9

Genomic disorders ten years on.
James R Lupski. Genome Med 2009
107
9

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.
Anne Rovelet-Lecrux, Didier Hannequin, Gregory Raux, Nathalie Le Meur, Annie Laquerrière, Anne Vital, Cécile Dumanchin, Sébastien Feuillette, Alexis Brice, Martine Vercelletto,[...]. Nat Genet 2006
810
9

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
9

Charcot-Marie-Tooth disease subtypes and genetic testing strategies.
Anita S D Saporta, Stephanie L Sottile, Lindsey J Miller, Shawna M E Feely, Carly E Siskind, Michael E Shy. Ann Neurol 2011
307
9

Exome Sequence Analysis Suggests that Genetic Burden Contributes to Phenotypic Variability and Complex Neuropathy.
Claudia Gonzaga-Jauregui, Tamar Harel, Tomasz Gambin, Maria Kousi, Laurie B Griffin, Ludmila Francescatto, Burcak Ozes, Ender Karaca, Shalini N Jhangiani, Matthew N Bainbridge,[...]. Cell Rep 2015
141
9


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
9


Predicting human genes susceptible to genomic instability associated with Alu/Alu-mediated rearrangements.
Xiaofei Song, Christine R Beck, Renqian Du, Ian M Campbell, Zeynep Coban-Akdemir, Shen Gu, Amy M Breman, Pawel Stankiewicz, Grzegorz Ira, Chad A Shaw,[...]. Genome Res 2018
32
9

Genome architecture, rearrangements and genomic disorders.
Paweł Stankiewicz, James R Lupski. Trends Genet 2002
626
9

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
51
9

Identification of novel candidate disease genes from de novo exonic copy number variants.
Tomasz Gambin, Bo Yuan, Weimin Bi, Pengfei Liu, Jill A Rosenfeld, Zeynep Coban-Akdemir, Amber N Pursley, Sandesh C S Nagamani, Ronit Marom, Sailaja Golla,[...]. Genome Med 2017
35
9

TBX6 null variants and a common hypomorphic allele in congenital scoliosis.
N Wu, X Ming, J Xiao, Z Wu, X Chen, M Shinawi, Y Shen, G Yu, J Liu, H Xie,[...]. N Engl J Med 2015
145
9

The copy number variation landscape of congenital anomalies of the kidney and urinary tract.
Miguel Verbitsky, Rik Westland, Alejandra Perez, Krzysztof Kiryluk, Qingxue Liu, Priya Krithivasan, Adele Mitrotti, David A Fasel, Ekaterina Batourina, Matthew G Sampson,[...]. Nat Genet 2019
46
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
9

The complete genome of an individual by massively parallel DNA sequencing.
David A Wheeler, Maithreyan Srinivasan, Michael Egholm, Yufeng Shen, Lei Chen, Amy McGuire, Wen He, Yi-Ju Chen, Vinod Makhijani, G Thomas Roth,[...]. Nature 2008
9

Phenotypic expansion illuminates multilocus pathogenic variation.
Ender Karaca, Jennifer E Posey, Zeynep Coban Akdemir, Davut Pehlivan, Tamar Harel, Shalini N Jhangiani, Yavuz Bayram, Xiaofei Song, Vahid Bahrambeigi, Ozge Ozalp Yuregir,[...]. Genet Med 2018
52
9

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
9

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
9

Copy number variations and cognitive phenotypes in unselected populations.
Katrin Männik, Reedik Mägi, Aurélien Macé, Ben Cole, Anna L Guyatt, Hashem A Shihab, Anne M Maillard, Helene Alavere, Anneli Kolk, Anu Reigo,[...]. JAMA 2015
86
9

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
77
9


Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Rolph Pfundt, Marisol Del Rosario, Lisenka E L M Vissers, Michael P Kwint, Irene M Janssen, Nicole de Leeuw, Helger G Yntema, Marcel R Nelen, Dorien Lugtenberg, Erik-Jan Kamsteeg,[...]. Genet Med 2017
73
9


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.