A citation-based method for searching scientific literature

M Cristina Digilio, Laura Bernardini, Federica Consoli, Francesca R Lepri, M Grazia Giuffrida, Anwar Baban, Cecilia Surace, Rosangela Ferese, Adriano Angioni, Antonio Novelli, Bruno Marino, Alessandro De Luca, Bruno Dallapiccola. Eur J Med Genet 2013
Times Cited: 23







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



Times Cited
  Times     Co-cited
Similarity


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
510
69

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
60

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
385
60

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
61
43

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
43

Clinical phenotype of the recurrent 1q21.1 copy-number variant.
Raphael Bernier, Kyle J Steinman, Beau Reilly, Arianne Stevens Wallace, Elliott H Sherr, Nicholas Pojman, Heather C Mefford, Jennifer Gerdts, Rachel Earl, Ellen Hanson,[...]. Genet Med 2016
73
43

A variant in the carboxyl-terminus of connexin 40 alters GAP junctions and increases risk for tetralogy of Fallot.
Valentina Guida, Rosangela Ferese, Marcella Rocchetti, Monica Bonetti, Anna Sarkozy, Serena Cecchetti, Vania Gelmetti, Francesca Lepri, Massimiliano Copetti, Giuseppe Lamorte,[...]. Eur J Hum Genet 2013
24
34

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
58
34

Large recurrent microdeletions associated with schizophrenia.
Hreinn Stefansson, Dan Rujescu, Sven Cichon, Olli P H Pietiläinen, Andres Ingason, Stacy Steinberg, Ragnheidur Fossdal, Engilbert Sigurdsson, Thordur Sigmundsson, Jacobine E Buizer-Voskamp,[...]. Nature 2008
30

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
177
30

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
293
30

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
26

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
507
21

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
196
21

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
243
21

High incidence of cardiac malformations in connexin40-deficient mice.
Hong Gu, Frank C Smith, Steven M Taffet, Mario Delmar. Circ Res 2003
91
21

Expanding the phenotype of reciprocal 1q21.1 deletions and duplications: a case series.
Martina Busè, Helenia C Cuttaia, Daniela Palazzo, Marcella V Mazara, Salvatrice A Lauricella, Michela Malacarne, Mauro Pierluigi, Simona Cavani, Maria Piccione. Ital J Pediatr 2017
15
33

A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay.
Santhosh Girirajan, Jill A Rosenfeld, Gregory M Cooper, Francesca Antonacci, Priscillia Siswara, Andy Itsara, Laura Vives, Tom Walsh, Shane E McCarthy, Carl Baker,[...]. Nat Genet 2010
410
17

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
238
17

An emerging 1q21.1 deletion-associated neurodevelopmental phenotype.
Lina Basel-Vanagaite, Hadassa Goldberg-Stern, Aviva Mimouni-Bloch, Vered Shkalim, Detlef Böhm, Jürgen Kohlhase. J Child Neurol 2011
15
26

Clinical and molecular cytogenetic analyses of four families with 1q21.1 microdeletion or microduplication.
Hong-Dan Wang, Lin Liu, Dong Wu, Tao Li, Cun-Ying Cui, Lian-Zhong Zhang, Cheng-Zeng Wang. J Gene Med 2017
9
44

Poly(ADP-ribose)-dependent regulation of DNA repair by the chromatin remodeling enzyme ALC1.
Dragana Ahel, Zuzana Horejsí, Nicola Wiechens, Sophie E Polo, Elisa Garcia-Wilson, Ivan Ahel, Helen Flynn, Mark Skehel, Stephen C West, Stephen P Jackson,[...]. Science 2009
374
17

Understanding the impact of 1q21.1 copy number variant.
Chansonette Harvard, Emma Strong, Eloi Mercier, Rita Colnaghi, Diana Alcantara, Eva Chow, Sally Martell, Christine Tyson, Monica Hrynchak, Barbara McGillivray,[...]. Orphanet J Rare Dis 2011
39
17

Genetic basis of congenital cardiovascular malformations.
Seema R Lalani, John W Belmont. Eur J Med Genet 2014
42
13

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
13

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
101
13

Increased frequency of de novo copy number variants in congenital heart disease by integrative analysis of single nucleotide polymorphism array and exome sequence data.
Joseph T Glessner, Alexander G Bick, Kaoru Ito, Jason Homsy, Laura Rodriguez-Murillo, Menachem Fromer, Erica Mazaika, Badri Vardarajan, Michael Italia, Jeremy Leipzig,[...]. Circ Res 2014
125
13

Microdeletions and microduplications in patients with congenital heart disease and multiple congenital anomalies.
Elizabeth Goldmuntz, Prasuna Paluru, Joseph Glessner, Hakon Hakonarson, Jaclyn A Biegel, Peter S White, Xiaowu Gai, Tamim H Shaikh. Congenit Heart Dis 2011
52
13

Genetic testing practices in infants with congenital heart disease.
Jessica A Connor, Robert B Hinton, Erin M Miller, Kristen L Sund, Jennifer G Ruschman, Stephanie M Ware. Congenit Heart Dis 2014
29
13

Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling.
Ali Houeijeh, Joris Andrieux, Pascale Saugier-Veber, Albert David, Alice Goldenberg, Dominique Bonneau, Marc Fouassier, Hubert Journel, Jelana Martinovic, Fabienne Escande,[...]. Eur J Med Genet 2011
13
23

[Phenotypic variability of the 1q21.1 microdeletion syndrome in members of the same family: relevance of detection of neuropsychiatric disorders for diagnosis of genetic syndromes].
Daniel Natera-De Benito, Arantxa Vidal-Esteban, Jaime Sanchez-Del Pozo, Marta Moreno-Garcia, Javier Suela-Rubio, Jaime Cruz-Rojo, María José Rivero-Martin. Rev Neurol 2015
3
100

Prenatal detection of TAR syndrome in a fetus with compound inheritance of an RBM8A SNP and a 334‑kb deletion: a case report.
Ioannis Papoulidis, Eirini Oikonomidou, Sandro Orru, Elisavet Siomou, Maria Kontodiou, Makarios Eleftheriades, Vasilios Bacoulas, Juan C Cigudosa, Javier Suela, Loretta Thomaidis,[...]. Mol Med Rep 2014
11
27

Microduplication 22q11.2: a new chromosomal syndrome.
Marie-France Portnoï. Eur J Med Genet 2009
145
13

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
13

DUF1220-domain copy number implicated in human brain-size pathology and evolution.
Laura J Dumas, Majesta S O'Bleness, Jonathan M Davis, C Michael Dickens, Nathan Anderson, J G Keeney, Jay Jackson, Megan Sikela, Armin Raznahan, Jay Giedd,[...]. Am J Hum Genet 2012
64
13

Interstitial 1q21.1 Microdeletion Is Associated with Severe Skeletal Anomalies, Dysmorphic Face and Moderate Intellectual Disability.
Bruno F Gamba, Roseli M Zechi-Ceide, Nancy M Kokitsu-Nakata, Siulan Vendramini-Pittoli, Carla Rosenberg, Ana C V Krepischi Santos, Lucilene Ribeiro-Bicudo, Antonio Richieri-Costa. Mol Syndromol 2016
9
33

Identification of copy number variations associated with congenital heart disease by chromosomal microarray analysis and next-generation sequencing.
Xiangyu Zhu, Jie Li, Tong Ru, Yaping Wang, Yan Xu, Ying Yang, Xing Wu, David S Cram, Yali Hu. Prenat Diagn 2016
37
13

CHD1L: a new candidate gene for congenital anomalies of the kidneys and urinary tract (CAKUT).
Antje Brockschmidt, Boidinh Chung, Stefanie Weber, Dagmar-Christiane Fischer, Maria Kolatsi-Joannou, Laura Christ, André Heimbach, Diamant Shtiza, Günter Klaus, Giacomo D Simonetti,[...]. Nephrol Dial Transplant 2012
21
14

Prenatal diagnosis of a familial 1q21.1-q21.2 microdeletion in a fetus with polydactyly of left foot on prenatal ultrasound.
Chih-Ping Chen, Shu-Yuan Chang, Yen-Ni Chen, Schu-Rern Chern, Peih-Shan Wu, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Chien-Wen Yang, Li-Feng Chen,[...]. Taiwan J Obstet Gynecol 2018
3
100

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
347
13

Genomic copy number variation in disorders of cognitive development.
Eric M Morrow. J Am Acad Child Adolesc Psychiatry 2010
74
8

Integrative functional genomic analyses implicate specific molecular pathways and circuits in autism.
Neelroop N Parikshak, Rui Luo, Alice Zhang, Hyejung Won, Jennifer K Lowe, Vijayendran Chandran, Steve Horvath, Daniel H Geschwind. Cell 2013
535
8

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
937
8

Copy number variations in neurodevelopmental disorders.
Hannah M Grayton, Cathy Fernandes, Dan Rujescu, David A Collier. Prog Neurobiol 2012
102
8

Genetic relationship between five psychiatric disorders estimated from genome-wide SNPs.
S Hong Lee, Stephan Ripke, Benjamin M Neale, Stephen V Faraone, Shaun M Purcell, Roy H Perlis, Bryan J Mowry, Anita Thapar, Michael E Goddard, John S Witte,[...]. Nat Genet 2013
8

Coexpression networks implicate human midfetal deep cortical projection neurons in the pathogenesis of autism.
A Jeremy Willsey, Stephan J Sanders, Mingfeng Li, Shan Dong, Andrew T Tebbenkamp, Rebecca A Muhle, Steven K Reilly, Leon Lin, Sofia Fertuzinhos, Jeremy A Miller,[...]. Cell 2013
467
8

Genetics of congenital heart disease: the glass half empty.
Akl C Fahed, Bruce D Gelb, J G Seidman, Christine E Seidman. Circ Res 2013
298
8

Gain-of-function mutations in RIT1 cause Noonan syndrome, a RAS/MAPK pathway syndrome.
Yoko Aoki, Tetsuya Niihori, Toshihiro Banjo, Nobuhiko Okamoto, Seiji Mizuno, Kenji Kurosawa, Tsutomu Ogata, Fumio Takada, Michihiro Yano, Toru Ando,[...]. Am J Hum Genet 2013
176
8

Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation.
Asaf Ta-Shma, Nael El-lahham, Simon Edvardson, Polina Stepensky, Amiram Nir, Zeev Perles, Sagui Gavri, Julius Golender, Nurit Yaakobi-Simhayoff, Avraham Shaag,[...]. J Med Genet 2014
17
11

Heart defects and other features of the 22q11 distal deletion syndrome.
Christina R Fagerberg, Jesper Graakjaer, Ulrike D Heinl, Lilian B Ousager, Inken Dreyer, Maria Kirchhoff, Anders A Rasmussen, Charlotte K Lautrup, Niels Birkebaek, Keld Sorensen. Eur J Med Genet 2013
27
8


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.