A citation-based method for searching scientific literature

Elana Pinchefsky, Laurence Laneuville, Myriam Srour. Child Neurol Open 2017
Times Cited: 7







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



Times Cited
  Times     Co-cited
Similarity


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
57

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
57

22q11.2 microduplication syndrome with associated esophageal atresia/tracheo-esophageal fistula and vascular ring.
Linda T Nguyen, Rachel Fleishman, Emilee Flynn, Rajeev Prasad, Achintya Moulick, Cesar Igor Mesia, Sue Moyer, Reena Jethva. Clin Case Rep 2017
9
42

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
42

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
42

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
42

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
42

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
42

Ocular manifestations of 22q11.2 microduplication.
Jose A Cordovez, Jenina Capasso, Michelle D Lingao, Karthikeyan A Sadagopan, George L Spaeth, Barry N Wasserman, Alex V Levin. Ophthalmology 2014
12
42

Microduplication 22q11.2: a new chromosomal syndrome.
Marie-France Portnoï. Eur J Med Genet 2009
145
42

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
42

Failure to detect the 22q11.2 duplication syndrome rearrangement among patients with schizophrenia.
Anna Brunet, Lluís Armengol, Trini Pelaez, Roser Guillamat, Vicenç Vallès, Elisabeth Gabau, Xavier Estivill, Miriam Guitart. Behav Brain Funct 2008
15
28

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
28

Cognitive deficit, learning difficulties, severe behavioral abnormalities and healed cleft lip in a patient with a 1.2-mb distal microduplication at 22q11.2.
L A Ribeiro-Bicudo, C de Campos Legnaro, B F Gamba, R M Candido Sandri, A Richieri-Costa. Mol Syndromol 2013
12
28

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
28

Psychotic disorder associated with 22q11.2 duplication syndrome.
Therese van Amelsvoort, Astrid Denayer, Jacques Boermans, Ann Swillen. Psychiatry Res 2016
6
33

A common molecular basis for rearrangement disorders on chromosome 22q11.
L Edelmann, R K Pandita, E Spiteri, B Funke, R Goldberg, N Palanisamy, R S Chaganti, E Magenis, R J Shprintzen, B E Morrow. Hum Mol Genet 1999
336
28

Risk of Psychiatric Disorders Among Individuals With the 22q11.2 Deletion or Duplication: A Danish Nationwide, Register-Based Study.
Louise K Hoeffding, Betina B Trabjerg, Line Olsen, Wiktor Mazin, Thomas Sparsø, Anders Vangkilde, Preben B Mortensen, Carsten B Pedersen, Thomas Werge. JAMA Psychiatry 2017
52
28

Microduplication and triplication of 22q11.2: a highly variable syndrome.
Twila M Yobb, Martin J Somerville, Lionel Willatt, Helen V Firth, Karen Harrison, Jennifer MacKenzie, Natasha Gallo, Bernice E Morrow, Lisa G Shaffer, Melanie Babcock,[...]. Am J Hum Genet 2005
172
28

De novo microduplication at 22q11.21 in a patient with VACTERL association.
Charlotte Schramm, Markus Draaken, Enrika Bartels, Thomas M Boemers, Stefan Aretz, Felix F Brockschmidt, Markus M Nöthen, Michael Ludwig, Heiko Reutter. Eur J Med Genet 2011
45
28

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
28

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
28

Atypical nested 22q11.2 duplications between LCR22B and LCR22D are associated with neurodevelopmental phenotypes including autism spectrum disorder with incomplete penetrance.
Karen J Woodward, Julie Stampalia, Hannah Vanyai, Hashika Rijhumal, Kim Potts, Fiona Taylor, Joanne Peverall, Tanya Grumball, Soruba Sivamoorthy, Hamid Alinejad-Rokny,[...]. Mol Genet Genomic Med 2019
8
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
28

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
28

Identification of Proximal and Distal 22q11.2 Microduplications among Patients with Cleft Lip and/or Palate: A Novel Inherited Atypical 0.6 Mb Duplication.
Maryam Sedghi, Hossein Abdali, Mehrdad Memarzadeh, Mansoor Salehi, Narges Nouri, Majid Hosseinzadeh, Nayereh Nouri. Genet Res Int 2015
2
50

Chromosomal microarray versus karyotyping for prenatal diagnosis.
Ronald J Wapner, Christa Lese Martin, Brynn Levy, Blake C Ballif, Christine M Eng, Julia M Zachary, Melissa Savage, Lawrence D Platt, Daniel Saltzman, William A Grobman,[...]. N Engl J Med 2012
643
14

ESOPHAGEAL ATRESIA WITH RECURRENT TRACHEOESOPHAGEAL FISTULAS AND MICRODUPLICATION 22q11.23.
S Puvabanditsin, E Garrow, M February, E Yen, R Mehta. Genet Couns 2015
3
33

Phenotypic heterogeneity in a family with a small atypical microduplication of chromosome 22q11.2 involving TBX1.
James D Weisfeld-Adams, Lisa Edelmann, Inder K Gadi, Lakshmi Mehta. Eur J Med Genet 2012
19
14

22q11.2 Microduplication with thyroid hemiagenesis.
Hae Jung Kim, Heui Seung Jo, Eun-Gyong Yoo, In Hyuk Chung, Sung Woo Kim, Kyu Hyung Lee, Yoon Hwan Chang. Horm Res Paediatr 2013
6
16

Molecular diagnosis of 22q11.2 deletion and duplication by multiplex ligation dependent probe amplification.
Andrea C Stachon, Berivan Baskin, Adam C Smith, Andrea Shugar, Cheryl Cytrynbaum, Leona Fishman, Roberto Mendoza-Londono, Regan Klatt, Ahmed Teebi, Peter N Ray,[...]. Am J Med Genet A 2007
34
14

Chromosome 8p23.1 deletions as a cause of complex congenital heart defects and diaphragmatic hernia.
Margaret J Wat, Oleg A Shchelochkov, Ashley M Holder, Amy M Breman, Aditi Dagli, Carlos Bacino, Fernando Scaglia, Roberto T Zori, Sau Wai Cheung, Daryl A Scott,[...]. Am J Med Genet A 2009
102
14

TBX5 intragenic duplication: a family with an atypical Holt-Oram syndrome phenotype.
Chirag Patel, Lee Silcock, Dominic McMullan, Louise Brueton, Helen Cox. Eur J Hum Genet 2012
24
14

Genetic testing in congenital heart disease: A clinical approach.
Marie A Chaix, Gregor Andelfinger, Paul Khairy. World J Cardiol 2016
27
14

Fine mapping of the 1p36 deletion syndrome identifies mutation of PRDM16 as a cause of cardiomyopathy.
Anne-Karin Arndt, Sebastian Schafer, Jorg-Detlef Drenckhahn, M Khaled Sabeh, Eva R Plovie, Almuth Caliebe, Eva Klopocki, Gabriel Musso, Andreas A Werdich, Hermann Kalwa,[...]. Am J Hum Genet 2013
92
14

The RASopathies: developmental syndromes of Ras/MAPK pathway dysregulation.
William E Tidyman, Katherine A Rauen. Curr Opin Genet Dev 2009
450
14

Epidemiology of congenital heart disease in Brazil.
Valdester Cavalcante Pinto Júnior, Klébia Magalhães P Castello Branco, Rodrigo Cardoso Cavalcante, Waldemiro Carvalho Junior, José Rubens Costa Lima, Sílvia Maria de Freitas, Maria Nazaré de Oliveira Fraga, Nayana Maria Gomes de Souza. Rev Bras Cir Cardiovasc 2015
20
14

A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease.
Shuolin Li, Sida Liu, Weicheng Chen, Yuan Yuan, Ruoyi Gu, Yangliu Song, Jian Li, Yinyin Cao, Yixiang Lin, Jun Xu,[...]. Sci Rep 2018
5
20

Embryonic heart progenitors and cardiogenesis.
Thomas Brade, Luna S Pane, Alessandra Moretti, Kenneth R Chien, Karl-Ludwig Laugwitz. Cold Spring Harb Perspect Med 2013
103
14

Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients.
Luis E León, Felipe Benavides, Karena Espinoza, Cecilia Vial, Patricia Alvarez, Mirta Palomares, Guillermo Lay-Son, Macarena Miranda, Gabriela M Repetto. Sci Rep 2017
14
14

Homeodomain factor Nkx2-5 in heart development and disease.
R P Harvey, D Lai, D Elliott, C Biben, M Solloway, O Prall, F Stennard, A Schindeler, N Groves, L Lavulo,[...]. Cold Spring Harb Symp Quant Biol 2002
44
14

Genetics and Genomics of Congenital Heart Disease.
Samir Zaidi, Martina Brueckner. Circ Res 2017
140
14

Genetics of Congenital Heart Defects: The NKX2-5 Gene, a Key Player.
Ill-Min Chung, Govindasamy Rajakumar. Genes (Basel) 2016
40
14

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
50
14

Lifetime prevalence of congenital heart disease in the general population from 2000 to 2010.
Ariane J Marelli, Raluca Ionescu-Ittu, Andrew S Mackie, Liming Guo, Nandini Dendukuri, Mohammed Kaouache. Circulation 2014
504
14


Of mice and men: molecular genetics of congenital heart disease.
Troels Askhøj Andersen, Karin de Linde Lind Troelsen, Lars Allan Larsen. Cell Mol Life Sci 2014
110
14

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome.
Tjitske Kleefstra, Han G Brunner, Jeanne Amiel, Astrid R Oudakker, Willy M Nillesen, Alex Magee, David Geneviève, Valérie Cormier-Daire, Hilde van Esch, Jean-Pierre Fryns,[...]. Am J Hum Genet 2006
238
14

Laterality defects other than situs inversus totalis in primary ciliary dyskinesia: insights into situs ambiguus and heterotaxy.
Adam J Shapiro, Stephanie D Davis, Thomas Ferkol, Sharon D Dell, Margaret Rosenfeld, Kenneth N Olivier, Scott D Sagel, Carlos Milla, Maimoona A Zariwala, Whitney Wolf,[...]. Chest 2014
113
14


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.