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



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  Times     Co-cited
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Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome.
Bo Yuan, Tamar Harel, Shen Gu, Pengfei Liu, Lydie Burglen, Sandra Chantot-Bastaraud, Violet Gelowani, Christine R Beck, Claudia M B Carvalho, Sau Wai Cheung,[...]. Am J Hum Genet 2015
18
40

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
40

Mechanisms underlying structural variant formation in genomic disorders.
Claudia M B Carvalho, James R Lupski. Nat Rev Genet 2016
268
40

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
40

Megabase Length Hypermutation Accompanies Human Structural Variation at 17p11.2.
Christine R Beck, Claudia M B Carvalho, Zeynep C Akdemir, Fritz J Sedlazeck, Xiaofei Song, Qingchang Meng, Jianhong Hu, Harsha Doddapaneni, Zechen Chong, Edward S Chen,[...]. Cell 2019
25
40

Bacterial artificial chromosome-emulation oligonucleotide arrays for targeted clinical array-comparative genomic hybridization analyses.
Zhishuo Ou, Sung-Hae L Kang, Chad A Shaw, Condie E Carmack, Lisa D White, Ankita Patel, Arthur L Beaudet, Sau Wai Cheung, A Craig Chinault. Genet Med 2008
82
40

Copy number variation in human health, disease, and evolution.
Feng Zhang, Wenli Gu, Matthew E Hurles, James R Lupski. Annu Rev Genomics Hum Genet 2009
693
40

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
40

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
121
40

Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models.
Guénola Ricard, Jessica Molina, Jacqueline Chrast, Wenli Gu, Nele Gheldof, Sylvain Pradervand, Frédéric Schütz, Juan I Young, James R Lupski, Alexandre Reymond,[...]. PLoS Biol 2010
69
40

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
40

Development and validation of a CGH microarray for clinical cytogenetic diagnosis.
Sau W Cheung, Chad A Shaw, Wei Yu, Jiangzham Li, Zhishuo Ou, Ankita Patel, Svetlana A Yatsenko, Mitchell L Cooper, Patti Furman, Pawel Stankiewicz,[...]. Genet Med 2005
200
40

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
40

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
40

Copy number variant and runs of homozygosity detection by microarrays enabled more precise molecular diagnoses in 11,020 clinical exome cases.
Avinash V Dharmadhikari, Rajarshi Ghosh, Bo Yuan, Pengfei Liu, Hongzheng Dai, Sami Al Masri, Jennifer Scull, Jennifer E Posey, Allen H Jiang, Weimin He,[...]. Genome Med 2019
10
40

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
40

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
40

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
40

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
40

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
40

DNA rearrangements on both homologues of chromosome 17 in a mildly delayed individual with a family history of autosomal dominant carpal tunnel syndrome.
L Potocki, K S Chen, T Koeuth, J Killian, S T Iannaccone, S K Shapira, C D Kashork, A S Spikes, L G Shaffer, J R Lupski. Am J Hum Genet 1999
47
40

Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease.
Nicole I Wolf, Erik A Sistermans, Maria Cundall, Grace M Hobson, Angelique P Davis-Williams, Rodger Palmer, Paula Stubbs, Sally Davies, Milda Endziniene, Yvonne Wu,[...]. Brain 2005
78
20

An interstitial duplication of the X chromosome in a male allows physical fine mapping of probes from the Xq13-q22 region.
F P Cremers, R A Pfeiffer, T J van de Pol, M H Hofker, T A Kruse, B Wieringa, H H Ropers. Hum Genet 1987
78
20

High frequency of GJA12/GJC2 mutations in Turkish patients with Pelizaeus-Merzbacher disease.
B Bilir, Z Yapici, C Yalcinkaya, I Baris, C M B Carvalho, M Bartnik, B Ozes, M Eraksoy, J R Lupski, E Battaloglu. Clin Genet 2013
5
20



Human subtelomeric copy number gains suggest a DNA replication mechanism for formation: beyond breakage-fusion-bridge for telomere stabilization.
Svetlana A Yatsenko, Patricia Hixson, Erin K Roney, Daryl A Scott, Christian P Schaaf, Yu-tze Ng, Robbin Palmer, Richard B Fisher, Ankita Patel, Sau Wai Cheung,[...]. Hum Genet 2012
24
20

Genome architecture catalyzes nonrecurrent chromosomal rearrangements.
Paweł Stankiewicz, Christine J Shaw, Jason D Dapper, Keiko Wakui, Lisa G Shaffer, Marjorie Withers, Leah Elizondo, Sung-Sup Park, James R Lupski. Am J Hum Genet 2003
145
20

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
38
20

Role of genomic architecture in PLP1 duplication causing Pelizaeus-Merzbacher disease.
Jennifer A Lee, Ken Inoue, Sau W Cheung, Chad A Shaw, Pawel Stankiewicz, James R Lupski. Hum Mol Genet 2006
61
20


Duplication of the proteolipid protein gene is the major cause of Pelizaeus-Merzbacher disease.
E A Sistermans, R F de Coo, I J De Wijs, B A Van Oost. Neurology 1998
108
20

The molecular pathogenesis of Pelizaeus-Merzbacher disease.
J Garbern, F Cambi, M Shy, J Kamholz. Arch Neurol 1999
89
20


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
9
20

An integrated map of genetic variation from 1,092 human genomes.
Goncalo R Abecasis, Adam Auton, Lisa D Brooks, Mark A DePristo, Richard M Durbin, Robert E Handsaker, Hyun Min Kang, Gabor T Marth, Gil A McVean. Nature 2012
20

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
20

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
20

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
20

Inverted low-copy repeats and genome instability--a genome-wide analysis.
Piotr Dittwald, Tomasz Gambin, Claudia Gonzaga-Jauregui, Claudia M B Carvalho, James R Lupski, Paweł Stankiewicz, Anna Gambin. Hum Mutat 2013
39
20

Duplication of proteolipid protein gene: a possible major cause of Pelizaeus-Merzbacher disease.
P J Wang, W L Hwu, W T Lee, T R Wang, Y Z Shen. Pediatr Neurol 1997
24
20

Gene Expression Omnibus: NCBI gene expression and hybridization array data repository.
Ron Edgar, Michael Domrachev, Alex E Lash. Nucleic Acids Res 2002
20

The burden of inherited leukodystrophies in children.
J L Bonkowsky, C Nelson, J L Kingston, F M Filloux, M B Mundorff, R Srivastava. Neurology 2010
100
20

Translesion Polymerases Drive Microhomology-Mediated Break-Induced Replication Leading to Complex Chromosomal Rearrangements.
Cynthia J Sakofsky, Sandeep Ayyar, Angela K Deem, Woo-Hyun Chung, Grzegorz Ira, Anna Malkova. Mol Cell 2015
65
20

Human meiotic recombination products revealed by sequencing a hotspot for homologous strand exchange in multiple HNPP deletion patients.
L T Reiter, P J Hastings, E Nelis, P De Jonghe, C Van Broeckhoven, J R Lupski. Am J Hum Genet 1998
128
20

Pelizaeus-Merzbacher disease caused by a duplication-inverted triplication-duplication in chromosomal segments including the PLP1 region.
Keiko Shimojima, Toshiyuki Mano, Mitsuru Kashiwagi, Takuya Tanabe, Midori Sugawara, Nobuhiko Okamoto, Hiroshi Arai, Toshiyuki Yamamoto. Eur J Med Genet 2012
21
20

Mechanisms for Complex Chromosomal Insertions.
Shen Gu, Przemyslaw Szafranski, Zeynep Coban Akdemir, Bo Yuan, Mitchell L Cooper, Maria A Magriñá, Carlos A Bacino, Seema R Lalani, Amy M Breman, Janice L Smith,[...]. PLoS Genet 2016
26
20

Complex human chromosomal and genomic rearrangements.
Feng Zhang, Claudia M B Carvalho, James R Lupski. Trends Genet 2009
179
20




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.