A citation-based method for searching scientific literature

Valentina Guida, Rosangela Ferese, Marcella Rocchetti, Monica Bonetti, Anna Sarkozy, Serena Cecchetti, Vania Gelmetti, Francesca Lepri, Massimiliano Copetti, Giuseppe Lamorte, Maria Cristina Digilio, Bruno Marino, Antonio Zaza, Jeroen den Hertog, Bruno Dallapiccola, Alessandro De Luca. Eur J Hum Genet 2013
Times Cited: 24







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



Times Cited
  Times     Co-cited
Similarity


Phenotype-specific effect of chromosome 1q21.1 rearrangements and GJA5 duplications in 2436 congenital heart disease patients and 6760 controls.
Rachel Soemedi, Ana Topf, Ian J Wilson, Rebecca Darlay, Thahira Rahman, Elise Glen, Darroch Hall, Ni Huang, Jamie Bentham, Shoumo Bhattacharya,[...]. Hum Mol Genet 2012
72
62

De novo copy number variants identify new genes and loci in isolated sporadic tetralogy of Fallot.
Steven C Greenway, Alexandre C Pereira, Jennifer C Lin, Steven R DePalma, Samuel J Israel, Sonia M Mesquita, Emel Ergul, Jessie H Conta, Joshua M Korn, Steven A McCarroll,[...]. Nat Genet 2009
297
45

Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes.
Heather C Mefford, Andrew J Sharp, Carl Baker, Andy Itsara, Zhaoshi Jiang, Karen Buysse, Shuwen Huang, Viv K Maloney, John A Crolla, Diana Baralle,[...]. N Engl J Med 2008
515
45

Chromosome 1q21.1 contiguous gene deletion is associated with congenital heart disease.
Jesse Christiansen, John D Dyck, Basil G Elyas, Margaret Lilley, J Stephen Bamforth, Mark Hicks, Kathleen A Sprysak, Robert Tomaszewski, Shelagh M Haase, Leanne M Vicen-Wyhony,[...]. Circ Res 2004
104
41

High incidence of cardiac malformations in connexin40-deficient mice.
Hong Gu, Frank C Smith, Steven M Taffet, Mario Delmar. Circ Res 2003
91
41

Recurrent reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities.
Nicola Brunetti-Pierri, Jonathan S Berg, Fernando Scaglia, John Belmont, Carlos A Bacino, Trilochan Sahoo, Seema R Lalani, Brett Graham, Brendan Lee, Marwan Shinawi,[...]. Nat Genet 2008
390
33

Congenital heart defects in recurrent reciprocal 1q21.1 deletion and duplication syndromes: rare association with pulmonary valve stenosis.
M Cristina Digilio, Laura Bernardini, Federica Consoli, Francesca R Lepri, M Grazia Giuffrida, Anwar Baban, Cecilia Surace, Rosangela Ferese, Adriano Angioni, Antonio Novelli,[...]. Eur J Med Genet 2013
24
33

New mutations in ZFPM2/FOG2 gene in tetralogy of Fallot and double outlet right ventricle.
Alessandro De Luca, A Sarkozy, R Ferese, F Consoli, F Lepri, M L Dentici, P Vergara, A De Zorzi, P Versacci, M C Digilio,[...]. Clin Genet 2011
50
25

Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics.
Mary Ella Pierpont, Craig T Basson, D Woodrow Benson, Bruce D Gelb, Therese M Giglia, Elizabeth Goldmuntz, Glenn McGee, Craig A Sable, Deepak Srivastava, Catherine L Webb. Circulation 2007
530
25

Contribution of global rare copy-number variants to the risk of sporadic congenital heart disease.
Rachel Soemedi, Ian J Wilson, Jamie Bentham, Rebecca Darlay, Ana Töpf, Diana Zelenika, Catherine Cosgrove, Kerry Setchfield, Chris Thornborough, Javier Granados-Riveron,[...]. Am J Hum Genet 2012
182
25

GATA4 mutations cause human congenital heart defects and reveal an interaction with TBX5.
Vidu Garg, Irfan S Kathiriya, Robert Barnes, Marie K Schluterman, Isabelle N King, Cheryl A Butler, Caryn R Rothrock, Reenu S Eapen, Kayoko Hirayama-Yamada, Kunitaka Joo,[...]. Nature 2003
798
20

NKX2.5 mutations in patients with tetralogy of fallot.
E Goldmuntz, E Geiger, D W Benson. Circulation 2001
228
20

Cardiac alpha-myosin (MYH6) is the predominant sarcomeric disease gene for familial atrial septal defects.
Maximilian G Posch, Stephan Waldmuller, Melanie Müller, Thomas Scheffold, David Fournier, Miguel A Andrade-Navarro, Bernard De Geeter, Sophie Guillaumont, Claire Dauphin, Dany Yousseff,[...]. PLoS One 2011
51
20

NKX2.5 mutations in patients with congenital heart disease.
Doff B McElhinney, Elizabeth Geiger, Joshua Blinder, D Woodrow Benson, Elizabeth Goldmuntz. J Am Coll Cardiol 2003
239
20

Rare copy number variations in adults with tetralogy of Fallot implicate novel risk gene pathways.
Candice K Silversides, Anath C Lionel, Gregory Costain, Daniele Merico, Ohsuke Migita, Ben Liu, Tracy Yuen, Jessica Rickaby, Bhooma Thiruvahindrapuram, Christian R Marshall,[...]. PLoS Genet 2012
106
20

1q21.1 Microduplication expression in adults.
Alessia Dolcetti, Candice K Silversides, Christian R Marshall, Anath C Lionel, Dimitri J Stavropoulos, Stephen W Scherer, Anne S Bassett. Genet Med 2013
59
20

Proximal microdeletions and microduplications of 1q21.1 contribute to variable abnormal phenotypes.
Jill A Rosenfeld, Ryan N Traylor, G Bradley Schaefer, Elizabeth W McPherson, Blake C Ballif, Eva Klopocki, Stefan Mundlos, Lisa G Shaffer, Arthur S Aylsworth. Eur J Hum Genet 2012
62
20

Mutation analysis of AMP-activated protein kinase subunits in inherited cardiomyopathies: implications for kinase function and disease pathogenesis.
Sandra Marisa J Oliveira, Javed Ehtisham, Charles S Redwood, Ingegerd Ostman-Smith, Edward M Blair, Hugh Watkins. J Mol Cell Cardiol 2003
38
16

BAC array CGH in patients with Velocardiofacial syndrome-like features reveals genomic aberrations on chromosome region 1q21.1.
Anna Brunet, Lluís Armengol, Damià Heine, Jordi Rosell, Manel García-Aragonés, Elisabeth Gabau, Xavier Estivill, Miriam Guitart. BMC Med Genet 2009
27
16

Congenital heart disease caused by mutations in the transcription factor NKX2-5.
J J Schott, D W Benson, C T Basson, W Pease, G M Silberbach, J P Moak, B J Maron, C E Seidman, J G Seidman. Science 1998
891
16

Evaluating the role of connexin43 in congenital heart disease: Screening for mutations in patients with outflow tract anomalies and the analysis of knock-in mouse models.
Guo-Ying Huang, Li-Jian Xie, Kaari L Linask, Chen Zhang, Xiao-Qing Zhao, Yi Yang, Guo-Min Zhou, Ying-Jie Wu, Lucrecia Marquez-Rosado, Doff B McElhinney,[...]. J Cardiovasc Dis Res 2011
29
16

Familial Tetralogy of Fallot caused by mutation in the jagged1 gene.
Z A Eldadah, A Hamosh, N J Biery, R A Montgomery, M Duke, R Elkins, H C Dietz. Hum Mol Genet 2001
171
16


The incidence of congenital heart disease.
Julien I E Hoffman, Samuel Kaplan. J Am Coll Cardiol 2002
16

Somatic mutations in the connexin 40 gene (GJA5) in atrial fibrillation.
Michael H Gollob, Douglas L Jones, Andrew D Krahn, Lynne Danis, Xiang-Qun Gong, Qing Shao, Xiaoqin Liu, John P Veinot, Anthony S L Tang, Alexandre F R Stewart,[...]. N Engl J Med 2006
353
16

Alpha-cardiac myosin heavy chain (MYH6) mutations affecting myofibril formation are associated with congenital heart defects.
Javier T Granados-Riveron, Tushar K Ghosh, Mark Pope, Frances Bu'Lock, Christopher Thornborough, Jacqueline Eason, Edwin P Kirk, Diane Fatkin, Michael P Feneley, Richard P Harvey,[...]. Hum Mol Genet 2010
81
16

Identification and functional characterization of NODAL rare variants in heterotaxy and isolated cardiovascular malformations.
Bhagyalaxmi Mohapatra, Brett Casey, Hua Li, Trang Ho-Dawson, Liana Smith, Susan D Fernbach, Laura Molinari, Stephen R Niesh, John Lynn Jefferies, William J Craigen,[...]. Hum Mol Genet 2009
92
16

Global variation in copy number in the human genome.
Richard Redon, Shumpei Ishikawa, Karen R Fitch, Lars Feuk, George H Perry, T Daniel Andrews, Heike Fiegler, Michael H Shapero, Andrew R Carson, Wenwei Chen,[...]. Nature 2006
12

Complex inheritance pattern resembling autosomal recessive inheritance involving a microdeletion in thrombocytopenia-absent radius syndrome.
Eva Klopocki, Harald Schulze, Gabriele Strauss, Claus-Eric Ott, Judith Hall, Fabienne Trotier, Silke Fleischhauer, Lynn Greenhalgh, Ruth A Newbury-Ecob, Luitgard M Neumann,[...]. Am J Hum Genet 2007
199
12

High frequency of submicroscopic genomic aberrations detected by tiling path array comparative genome hybridisation in patients with isolated congenital heart disease.
F Erdogan, L A Larsen, L Zhang, Z Tümer, N Tommerup, W Chen, J R Jacobsen, M Schubert, J Jurkatis, A Tzschach,[...]. J Med Genet 2008
91
12


Cardiac malformation in neonatal mice lacking connexin43.
A G Reaume, P A de Sousa, S Kulkarni, B L Langille, D Zhu, T C Davies, S C Juneja, G M Kidder, J Rossant. Science 1995
12

Abnormal cardiac conduction and morphogenesis in connexin40 and connexin43 double-deficient mice.
S Kirchhoff, J S Kim, A Hagendorff, E Thönnissen, O Krüger, W H Lamers, K Willecke. Circ Res 2000
103
12


The changing epidemiology of congenital heart disease.
Teun van der Bom, A Carla Zomer, Aeilko H Zwinderman, Folkert J Meijboom, Berto J Bouma, Barbara J M Mulder. Nat Rev Cardiol 2011
321
12

Relation between hypomethylation of long interspersed nucleotide elements and risk of neural tube defects.
Li Wang, Fang Wang, Jing Guan, Jing Le, Lihua Wu, Jizhen Zou, Huizhi Zhao, Lijun Pei, Xiaoying Zheng, Ting Zhang. Am J Clin Nutr 2010
117
12

LINE-1 methylation status and its association with tetralogy of fallot in infants.
Wei Sheng, Huijun Wang, Xiaojing Ma, Yanyan Qian, Ping Zhang, Yao Wu, Fengyun Zheng, Long Chen, Guoying Huang, Duan Ma. BMC Med Genomics 2012
29
12


Search of somatic GATA4 and NKX2.5 gene mutations in sporadic septal heart defects.
Marleny Salazar, Federica Consoli, Victoria Villegas, Victor Caicedo, Valeria Maddaloni, Paola Daniele, Giuseppe Caianiello, Sonia Pachón, Federico Nuñez, Giuseppe Limongelli,[...]. Eur J Med Genet 2011
30
12


Jagged1 (JAG1) mutations in patients with tetralogy of Fallot or pulmonic stenosis.
Robert C Bauer, Ayanna O Laney, Rosemarie Smith, Jennifer Gerfen, Jennifer J D Morrissette, Stacy Woyciechowski, Jennifer Garbarini, Kathleen M Loomes, Ian D Krantz, Zsolt Urban,[...]. Hum Mutat 2010
66
12

Regulatory variation in a TBX5 enhancer leads to isolated congenital heart disease.
Scott Smemo, Luciene C Campos, Ivan P Moskowitz, José E Krieger, Alexandre C Pereira, Marcelo A Nobrega. Hum Mol Genet 2012
115
12

Mutations in cardiac T-box factor gene TBX20 are associated with diverse cardiac pathologies, including defects of septation and valvulogenesis and cardiomyopathy.
Edwin P Kirk, Margaret Sunde, Mauro W Costa, Scott A Rankin, Orit Wolstein, M Leticia Castro, Tanya L Butler, Changbaig Hyun, Guanglan Guo, Robyn Otway,[...]. Am J Hum Genet 2007
221
12

A novel GATA6 mutation in patients with tetralogy of Fallot or atrial septal defect.
Xiaoping Lin, Zhaoxia Huo, Xingyuan Liu, Yangyang Zhang, Li Li, Hong Zhao, Biao Yan, Ying Liu, Yiqing Yang, Yi-Han Chen. J Hum Genet 2010
73
12

A temporal chromatin signature in human embryonic stem cells identifies regulators of cardiac development.
Sharon L Paige, Sean Thomas, Cristi L Stoick-Cooper, Hao Wang, Lisa Maves, Richard Sandstrom, Lil Pabon, Hans Reinecke, Gabriel Pratt, Gordon Keller,[...]. Cell 2012
222
12

The contribution of chromosomal abnormalities to congenital heart defects: a population-based study.
Robert J Hartman, Sonja A Rasmussen, Lorenzo D Botto, Tiffany Riehle-Colarusso, Christa L Martin, Janet D Cragan, Mikyong Shin, Adolfo Correa. Pediatr Cardiol 2011
102
12

GATA4 sequence variants in patients with congenital heart disease.
A Tomita-Mitchell, C L Maslen, C D Morris, V Garg, E Goldmuntz. J Med Genet 2007
139
12

The contribution of de novo and rare inherited copy number changes to congenital heart disease in an unselected sample of children with conotruncal defects or hypoplastic left heart disease.
Dorothy Warburton, Michael Ronemus, Jennie Kline, Vaidehi Jobanputra, Ismee Williams, Kwame Anyane-Yeboa, Wendy Chung, Lan Yu, Nancy Wong, Danielle Awad,[...]. Hum Genet 2014
78
12

De novo mutations in histone-modifying genes in congenital heart disease.
Samir Zaidi, Murim Choi, Hiroko Wakimoto, Lijiang Ma, Jianming Jiang, John D Overton, Angela Romano-Adesman, Robert D Bjornson, Roger E Breitbart, Kerry K Brown,[...]. Nature 2013
523
12

Compound inheritance of a low-frequency regulatory SNP and a rare null mutation in exon-junction complex subunit RBM8A causes TAR syndrome.
Cornelis A Albers, Dirk S Paul, Harald Schulze, Kathleen Freson, Jonathan C Stephens, Peter A Smethurst, Jennifer D Jolley, Ana Cvejic, Myrto Kostadima, Paul Bertone,[...]. Nat Genet 2012
254
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.