A citation-based method for searching scientific literature

Karen J Woodward, Julie Stampalia, Hannah Vanyai, Hashika Rijhumal, Kim Potts, Fiona Taylor, Joanne Peverall, Tanya Grumball, Soruba Sivamoorthy, Hamid Alinejad-Rokny, John Wray, Andrew Whitehouse, Lakshmi Nagarajan, Jacqueline Scurlock, Sabine Afchani, Matthew Edwards, Ashleigh Murch, John Beilby, Gareth Baynam, Cathy Kiraly-Borri, Fiona McKenzie, Julian I T Heng. Mol Genet Genomic Med 2019
Times Cited: 8







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



Times Cited
  Times     Co-cited
Similarity


Clinical variability of the 22q11.2 duplication syndrome.
Christian Wentzel, Maria Fernström, Ylva Ohrner, Göran Annerén, Ann-Charlotte Thuresson. Eur J Med Genet 2008
109
75

Microduplication 22q11.2, an emerging syndrome: clinical, cytogenetic, and molecular analysis of thirteen patients.
Regina E Ensenauer, Adewale Adeyinka, Heather C Flynn, Virginia V Michels, Noralane M Lindor, D Brian Dawson, Erik C Thorland, Cindy Pham Lorentz, Jennifer L Goldstein, Marie T McDonald,[...]. Am J Hum Genet 2003
253
62

Microduplication 22q11.2: a new chromosomal syndrome.
Marie-France Portnoï. Eur J Med Genet 2009
145
50

Chromosome 22-specific low copy repeats and the 22q11.2 deletion syndrome: genomic organization and deletion endpoint analysis.
T H Shaikh, H Kurahashi, S C Saitta, A M O'Hare, P Hu, B A Roe, D A Driscoll, D M McDonald-McGinn, E H Zackai, M L Budarf,[...]. Hum Mol Genet 2000
376
50

Critical region within 22q11.2 linked to higher rate of autism spectrum disorder.
Caitlin C Clements, Tara L Wenger, Alisa R Zoltowski, Jennifer R Bertollo, Judith S Miller, Ashley B de Marchena, Lauren M Mitteer, John C Carey, Benjamin E Yerys, Elaine H Zackai,[...]. Mol Autism 2017
16
50

Prevalence of rearrangements in the 22q11.2 region and population-based risk of neuropsychiatric and developmental disorders in a Danish population: a case-cohort study.
Line Olsen, Thomas Sparsø, Shantel M Weinsheimer, Marcelo Bertalan Quintanilha Dos Santos, Wiktor Mazin, Anders Rosengren, Xabier Calle Sanchez, Louise K Hoeffding, Henriette Schmock, Marie Baekvad-Hansen,[...]. Lancet Psychiatry 2018
38
50

22q11.2 duplication syndrome: elevated rate of autism spectrum disorder and need for medical screening.
Tara L Wenger, Judith S Miller, Lauren M DePolo, Ashley B de Marchena, Caitlin C Clements, Beverly S Emanuel, Elaine H Zackai, Donna M McDonald-McGinn, Robert T Schultz. Mol Autism 2016
40
50


The recurrent distal 22q11.2 microdeletions are often de novo and do not represent a single clinical entity: a proposed categorization system.
Fady M Mikhail, Rachel D Burnside, Brooke Rush, Jennifer Ibrahim, Robin Godshalk, S Lane Rutledge, Nathaniel H Robin, Maria D Descartes, Andrew J Carroll. Genet Med 2014
27
37

An atypical 0.8 Mb inherited duplication of 22q11.2 associated with psychomotor impairment.
Céline Pebrel-Richard, Stéphan Kemeny, Laetitia Gouas, Eléonore Eymard-Pierre, Nathalie Blanc, Christine Francannet, Andreï Tchirkov, Carole Goumy, Philippe Vago. Eur J Med Genet 2012
14
37

The intrafamilial variability of the 22q11.2 microduplication encompasses a spectrum from minor cognitive deficits to severe congenital anomalies.
Céline de La Rochebrochard, Géraldine Joly-Hélas, Alice Goldenberg, Isabelle Durand, Annie Laquerrière, Valentine Ickowicz, Pascale Saugier-Veber, Danièle Eurin, Hélène Moirot, Alain Diguet,[...]. Am J Med Genet A 2006
55
37

Microduplications of 22q11.2 are frequently inherited and are associated with variable phenotypes.
Zhishuo Ou, Jonathan S Berg, Hagith Yonath, Victoria B Enciso, David T Miller, Jonathan Picker, Tiffanee Lenzi, Catherine E Keegan, Vernon R Sutton, John Belmont,[...]. Genet Med 2008
134
37

Sixteen New Cases Contributing to the Characterization of Patients with Distal 22q11.2 Microduplications.
J Wincent, D L Bruno, B W M van Bon, A Bremer, H Stewart, E M H F Bongers, C W Ockeloen, M H Willemsen, D D A Keays, G Baird,[...]. Mol Syndromol 2010
19
37

Additive Effect of Variably Penetrant 22q11.2 Duplication and Pathogenic Mutations in Autism Spectrum Disorder: To Which Extent Does the Tree Hide the Forest?
Caroline Demily, Gaétan Lesca, Alice Poisson, Marianne Till, Giulia Barcia, Nicolas Chatron, Damien Sanlaville, Arnold Munnich. J Autism Dev Disord 2018
9
25

Full spectrum of malformations in velo-cardio-facial syndrome/DiGeorge syndrome mouse models by altering Tbx1 dosage.
Jun Liao, Lazaros Kochilas, Sonja Nowotschin, Jelena S Arnold, Vimla S Aggarwal, Jonathan A Epstein, M Christian Brown, Joe Adams, Bernice E Morrow. Hum Mol Genet 2004
164
25

Central 22q11.2 deletions.
Patrick Rump, Nicole de Leeuw, Anthonie J van Essen, Corien C Verschuuren-Bemelmans, Hermine E Veenstra-Knol, Mariëlle E M Swinkels, Wilma Oostdijk, Claudia Ruivenkamp, Willie Reardon, Sonja de Munnik,[...]. Am J Med Genet A 2014
36
25

A deletion and a duplication in distal 22q11.2 deletion syndrome region. Clinical implications and review.
Luis Fernández, Julián Nevado, Fernando Santos, Damià Heine-Suñer, Victor Martinez-Glez, Sixto García-Miñaur, Rebeca Palomo, Alicia Delicado, Isidora López Pajares, María Palomares,[...]. BMC Med Genet 2009
46
25

Microduplication 22q11.2: a description of the clinical, developmental and behavioral characteristics during childhood.
S Van Campenhout, K Devriendt, J Breckpot, J-P Frijns, H Peeters, G Van Buggenhout, H Van Esch, B Maes, A Swillen. Genet Couns 2012
26
25


22q11.2 duplication syndrome: two new familial cases with some overlapping features with DiGeorge/velocardiofacial syndromes.
Marie-France Portnoï, Fanny Lebas, Nicolas Gruchy, Azarnouche Ardalan, Valérie Biran-Mucignat, Valérie Malan, Lina Finkel, Gilles Roger, Sarah Ducrocq, Francis Gold,[...]. Am J Med Genet A 2005
78
25

Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients.
C Carlson, H Sirotkin, R Pandita, R Goldberg, J McKie, R Wadey, S R Patanjali, S M Weissman, K Anyane-Yeboa, D Warburton,[...]. Am J Hum Genet 1997
289
25

Over-expression of a human chromosome 22q11.2 segment including TXNRD2, COMT and ARVCF developmentally affects incentive learning and working memory in mice.
Go Suzuki, Kathryn M Harper, Takeshi Hiramoto, Birgit Funke, MoonSook Lee, Gina Kang, Mahalah Buell, Mark A Geyer, Raju Kucherlapati, Bernice Morrow,[...]. Hum Mol Genet 2009
35
25

Identification of familial and de novo microduplications of 22q11.21-q11.23 distal to the 22q11.21 microdeletion syndrome region.
Justine Coppinger, Donna McDonald-McGinn, Elaine Zackai, Kate Shane, Joan F Atkin, Alexander Asamoah, Robert Leland, David D Weaver, Susan Lansky-Shafer, Karen Schmidt,[...]. Hum Mol Genet 2009
55
25

Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype-genotype correlations.
Céline Dupont, Francesca Romana Grati, Kwong Wai Choy, Sylvie Jaillard, Jérôme Toutain, Marie-Laure Maurin, Jose Antonio Martínez-Conejero, Claire Beneteau, Aurélie Coussement, Denise Molina-Gomes,[...]. Prenat Diagn 2015
16
25

Distal 22q11.2 Microduplication: Case Report and Review of the Literature.
Elana Pinchefsky, Laurence Laneuville, Myriam Srour. Child Neurol Open 2017
7
28

Human TBX1 missense mutations cause gain of function resulting in the same phenotype as 22q11.2 deletions.
Christiane Zweier, Heinrich Sticht, Inci Aydin-Yaylagül, Christine E Campbell, Anita Rauch. Am J Hum Genet 2007
141
25

22q11.2 deletion syndrome.
Donna M McDonald-McGinn, Kathleen E Sullivan, Bruno Marino, Nicole Philip, Ann Swillen, Jacob A S Vorstman, Elaine H Zackai, Beverly S Emanuel, Joris R Vermeesch, Bernice E Morrow,[...]. Nat Rev Dis Primers 2015
381
25

Low copy repeats mediate distal chromosome 22q11.2 deletions: sequence analysis predicts breakpoint mechanisms.
Tamim H Shaikh, Ronald J O'Connor, Mary Ella Pierpont, James McGrath, April M Hacker, Manjunath Nimmakayalu, Elizabeth Geiger, Beverly S Emanuel, Sulagna C Saitta. Genome Res 2007
90
25

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
25

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies.
Francesca Romana Grati, Denise Molina Gomes, Jose Carlos Pinto B Ferreira, Celine Dupont, Viola Alesi, Laetitia Gouas, Nina Horelli-Kuitunen, Kwong Wai Choy, Sandra García-Herrero, Alberto Gonzalez de la Vega,[...]. Prenat Diagn 2015
154
25

Evidence that duplications of 22q11.2 protect against schizophrenia.
E Rees, G Kirov, A Sanders, J T R Walters, K D Chambert, J Shi, J Szatkiewicz, C O'Dushlaine, A L Richards, E K Green,[...]. Mol Psychiatry 2014
82
25

Familial 22q11.2 duplication: a three-generation family with a 3-Mb duplication and a familial 1.5-Mb duplication.
S Yu, K Cox, K Friend, S Smith, R Buchheim, S Bain, J Liebelt, E Thompson, D Bratkovic. Clin Genet 2008
34
25

Comparative mapping of the 22q11.2 deletion region and the potential of simple model organisms.
Alina Guna, Nancy J Butcher, Anne S Bassett. J Neurodev Disord 2015
50
25

The annual incidence of DiGeorge/velocardiofacial syndrome.
K Devriendt, J P Fryns, G Mortier, M N van Thienen, K Keymolen. J Med Genet 1998
257
12

A promoter-level mammalian expression atlas.
Alistair R R Forrest, Hideya Kawaji, Michael Rehli, J Kenneth Baillie, Michiel J L de Hoon, Vanja Haberle, Timo Lassmann, Ivan V Kulakovskiy, Marina Lizio, Masayoshi Itoh,[...]. Nature 2014
12

Tbx1 mutation causes multiple cardiovascular defects and disrupts neural crest and cranial nerve migratory pathways.
Francesca Vitelli, Masae Morishima, Ilaria Taddei, Elizabeth A Lindsay, Antonio Baldini. Hum Mol Genet 2002
243
12

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
411
12

Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization.
Yao-Shan Fan, Parul Jayakar, Hongbo Zhu, Deborah Barbouth, Stephanie Sacharow, Ana Morales, Virginia Carver, Paul Benke, Peter Mundy, Louis J Elsas. Hum Mutat 2007
94
12

Single exon-resolution targeted chromosomal microarray analysis of known and candidate intellectual disability genes.
Tracy Tucker, Farah R Zahir, Malachi Griffith, Allen Delaney, David Chai, Erica Tsang, Emmanuelle Lemyre, Sylvia Dobrzeniecka, Marco Marra, Patrice Eydoux,[...]. Eur J Hum Genet 2014
29
12





Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome.
Elisabeth E Mlynarski, Michael Xie, Deanne Taylor, Molly B Sheridan, Tingwei Guo, Silvia E Racedo, Donna M McDonald-McGinn, Eva W C Chow, Jacob Vorstman, Ann Swillen,[...]. Hum Genet 2016
25
12

Role of TBX1 in human del22q11.2 syndrome.
Hisato Yagi, Yoshiyuki Furutani, Hiromichi Hamada, Takashi Sasaki, Shuichi Asakawa, Shinsei Minoshima, Fukiko Ichida, Kunitaka Joo, Misa Kimura, Shin-ichiro Imamura,[...]. Lancet 2003
523
12

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
12

Clinical and molecular characterization of a de novo 19p13.3 microdeletion.
Pietro Palumbo, Orazio Palumbo, Maria Pia Leone, Raffaella Stallone, Teresa Palladino, Leopoldo Zelante, Massimo Carella. Mol Cytogenet 2016
2
50

Germline recessive mutations in PI4KA are associated with perisylvian polymicrogyria, cerebellar hypoplasia and arthrogryposis.
Alistair T Pagnamenta, Malcolm F Howard, Eva Wisniewski, Niko Popitsch, Samantha J L Knight, David A Keays, Gerardine Quaghebeur, Helen Cox, Phillip Cox, Tamas Balla,[...]. Hum Mol Genet 2015
33
12

A unified anatomy ontology of the vertebrate skeletal system.
Wasila M Dahdul, James P Balhoff, David C Blackburn, Alexander D Diehl, Melissa A Haendel, Brian K Hall, Hilmar Lapp, John G Lundberg, Christopher J Mungall, Martin Ringwald,[...]. PLoS One 2012
24
12

Comparison of genome-wide array genomic hybridization platforms for the detection of copy number variants in idiopathic mental retardation.
Tracy Tucker, Alexandre Montpetit, David Chai, Susanna Chan, Sébastien Chénier, Bradley P Coe, Allen Delaney, Patrice Eydoux, Wan L Lam, Sylvie Langlois,[...]. BMC Med Genomics 2011
22
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.