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



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
Times Cited: 89




List of shared articles



Times cited

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

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
43

Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
Christine R Beck, Claudia M B Carvalho, Linda Banser, Tomasz Gambin, Danielle Stubbolo, Bo Yuan, Karen Sperle, Suzanne M McCahan, Marco Henneke, Pavel Seeman,[...]. PLoS Genet 2015
41

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

Efficient CNV breakpoint analysis reveals unexpected structural complexity and correlation of dosage-sensitive genes with clinical severity in genomic disorders.
Ling Zhang, Jingmin Wang, Cheng Zhang, Dongxiao Li, Claudia M B Carvalho, Haoran Ji, Jianqiu Xiao, Ye Wu, Weichen Zhou, Hongyan Wang,[...]. Hum Mol Genet 2017
10

Mechanisms underlying structural variant formation in genomic disorders.
Claudia M B Carvalho, James R Lupski. Nat Rev Genet 2016
274

Human Structural Variation: Mechanisms of Chromosome Rearrangements.
Brooke Weckselblatt, M Katharine Rudd. Trends Genet 2015
93

Whole-Genome Sequencing of Cytogenetically Balanced Chromosome Translocations Identifies Potentially Pathological Gene Disruptions and Highlights the Importance of Microhomology in the Mechanism of Formation.
Daniel Nilsson, Maria Pettersson, Peter Gustavsson, Alisa Förster, Wolfgang Hofmeister, Josephine Wincent, Vasilios Zachariadis, Britt-Marie Anderlid, Ann Nordgren, Outi Mäkitie,[...]. Hum Mutat 2017
33

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
123

Decoding NF1 Intragenic Copy-Number Variations.
Meng-Chang Hsiao, Arkadiusz Piotrowski, Tom Callens, Chuanhua Fu, Katharina Wimmer, Kathleen B M Claes, Ludwine Messiaen. Am J Hum Genet 2015
13

Copy-Number Variation Contributes to the Mutational Load of Bardet-Biedl Syndrome.
Anna Lindstrand, Stephan Frangakis, Claudia M B Carvalho, Ellen B Richardson, Kelsey A McFadden, Jason R Willer, Davut Pehlivan, Pengfei Liu, Igor L Pediaditakis, Aniko Sabo,[...]. Am J Hum Genet 2016
60


Replicative and non-replicative mechanisms in the formation of clustered CNVs are indicated by whole genome characterization.
Lusine Nazaryan-Petersen, Jesper Eisfeldt, Maria Pettersson, Johanna Lundin, Daniel Nilsson, Josephine Wincent, Agne Lieden, Lovisa Lovmar, Jesper Ottosson, Jelena Gacic,[...]. PLoS Genet 2018
19

Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis.
Brooke Weckselblatt, Karen E Hermetz, M Katharine Rudd. Genome Res 2015
39

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
54