A citation-based method for searching scientific literature

Reza Asadollahi, Beatrice Oneda, Pascal Joset, Silvia Azzarello-Burri, Deborah Bartholdi, Katharina Steindl, Marie Vincent, Joana Cobilanschi, Heinrich Sticht, Rosa Baldinger, Regina Reissmann, Irene Sudholt, Christian T Thiel, Arif B Ekici, André Reis, Emilia K Bijlsma, Joris Andrieux, Anne Dieux, David FitzPatrick, Susanne Ritter, Alessandra Baumer, Beatrice Latal, Barbara Plecko, Oskar G Jenni, Anita Rauch. J Med Genet 2014
Times Cited: 55







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



Times Cited
  Times     Co-cited
Similarity


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
16

American College of Medical Genetics standards and guidelines for interpretation and reporting of postnatal constitutional copy number variants.
Hutton M Kearney, Erik C Thorland, Kerry K Brown, Fabiola Quintero-Rivera, Sarah T South. Genet Med 2011
516
14


Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
Santhosh Girirajan, Megan Y Dennis, Carl Baker, Maika Malig, Bradley P Coe, Catarina D Campbell, Kenneth Mark, Tiffany H Vu, Can Alkan, Ze Cheng,[...]. Am J Hum Genet 2013
185
12

Refining analyses of copy number variation identifies specific genes associated with developmental delay.
Bradley P Coe, Kali Witherspoon, Jill A Rosenfeld, Bregje W M van Bon, Anneke T Vulto-van Silfhout, Paolo Bosco, Kathryn L Friend, Carl Baker, Serafino Buono, Lisenka E L M Vissers,[...]. Nat Genet 2014
325
12

Genome sequencing identifies major causes of severe intellectual disability.
Christian Gilissen, Jayne Y Hehir-Kwa, Djie Tjwan Thung, Maartje van de Vorst, Bregje W M van Bon, Marjolein H Willemsen, Michael Kwint, Irene M Janssen, Alexander Hoischen, Annette Schenck,[...]. Nature 2014
624
10


Functional impact of global rare copy number variation in autism spectrum disorders.
Dalila Pinto, Alistair T Pagnamenta, Lambertus Klei, Richard Anney, Daniele Merico, Regina Regan, Judith Conroy, Tiago R Magalhaes, Catarina Correia, Brett S Abrahams,[...]. Nature 2010
10

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
10

Genome-wide copy number variation study associates metabotropic glutamate receptor gene networks with attention deficit hyperactivity disorder.
Josephine Elia, Joseph T Glessner, Kai Wang, Nagahide Takahashi, Corina J Shtir, Dexter Hadley, Patrick M A Sleiman, Haitao Zhang, Cecilia E Kim, Reid Robison,[...]. Nat Genet 2011
213
9

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
805
9

Characterising and predicting haploinsufficiency in the human genome.
Ni Huang, Insuk Lee, Edward M Marcotte, Matthew E Hurles. PLoS Genet 2010
410
9

Cri du Chat syndrome.
Paola Cerruti Mainardi. Orphanet J Rare Dis 2006
97
9

Relative burden of large CNVs on a range of neurodevelopmental phenotypes.
Santhosh Girirajan, Zoran Brkanac, Bradley P Coe, Carl Baker, Laura Vives, Tiffany H Vu, Neil Shafer, Raphael Bernier, Giovanni B Ferrero, Margherita Silengo,[...]. PLoS Genet 2011
206
9

Exonic deletions in AUTS2 cause a syndromic form of intellectual disability and suggest a critical role for the C terminus.
Gea Beunders, Els Voorhoeve, Christelle Golzio, Luba M Pardo, Jill A Rosenfeld, Michael E Talkowski, Ingrid Simonic, Anath C Lionel, Sarah Vergult, Robert E Pyatt,[...]. Am J Hum Genet 2013
93
9

Two male adults with pathogenic AUTS2 variants, including a two-base pair deletion, further delineate the AUTS2 syndrome.
Gea Beunders, Sonja A de Munnik, Nathalie Van der Aa, Berten Ceulemans, Els Voorhoeve, Alexander J Groffen, Willy M Nillesen, Elizabeth J Meijers-Heijboer, R Frank Kooy, Helger G Yntema,[...]. Eur J Hum Genet 2015
13
38

Identification of a novel gene on chromosome 7q11.2 interrupted by a translocation breakpoint in a pair of autistic twins.
Razia Sultana, Chang-En Yu, Jun Yu, Jeffery Munson, Donghui Chen, Wenhui Hua, Annette Estes, Fanny Cortes, Flora de la Barra, Dongmei Yu,[...]. Genomics 2002
125
9

Detection of copy-number variation in AUTS2 gene by targeted exonic array CGH in patients with developmental delay and autistic spectrum disorders.
Sandesh C S Nagamani, Ayelet Erez, Bruria Ben-Zeev, Moshe Frydman, Susan Winter, Robert Zeller, Dima El-Khechen, Luis Escobar, Pawel Stankiewicz, Ankita Patel,[...]. Eur J Hum Genet 2013
41
12

Origins and functional impact of copy number variation in the human genome.
Donald F Conrad, Dalila Pinto, Richard Redon, Lars Feuk, Omer Gokcumen, Yujun Zhang, Jan Aerts, T Daniel Andrews, Chris Barnes, Peter Campbell,[...]. Nature 2010
9

Delta-catenin is required for the maintenance of neural structure and function in mature cortex in vivo.
Cheryl Matter, Mochtar Pribadi, Xin Liu, Joshua T Trachtenberg. Neuron 2009
64
7

Delta-catenin regulates spine and synapse morphogenesis and function in hippocampal neurons during development.
Jyothi Arikkath, I-Feng Peng, Yu Gie Ng, Inbal Israely, Xin Liu, Erik M Ullian, Louis F Reichardt. J Neurosci 2009
57
7

Sequencing chromosomal abnormalities reveals neurodevelopmental loci that confer risk across diagnostic boundaries.
Michael E Talkowski, Jill A Rosenfeld, Ian Blumenthal, Vamsee Pillalamarri, Colby Chiang, Adrian Heilbut, Carl Ernst, Carrie Hanscom, Elizabeth Rossin, Amelia M Lindgren,[...]. Cell 2012
380
7

Structural variation in the human genome and its role in disease.
Paweł Stankiewicz, James R Lupski. Annu Rev Med 2010
674
7


Genome-wide copy number variation in epilepsy: novel susceptibility loci in idiopathic generalized and focal epilepsies.
Heather C Mefford, Hiltrud Muhle, Philipp Ostertag, Sarah von Spiczak, Karen Buysse, Carl Baker, Andre Franke, Alain Malafosse, Pierre Genton, Pierre Thomas,[...]. PLoS Genet 2010
328
7

Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants.
Dalila Pinto, Katayoon Darvishi, Xinghua Shi, Diana Rajan, Diane Rigler, Tom Fitzgerald, Anath C Lionel, Bhooma Thiruvahindrapuram, Jeffrey R Macdonald, Ryan Mills,[...]. Nat Biotechnol 2011
291
7

Transmission disequilibrium of small CNVs in simplex autism.
Niklas Krumm, Brian J O'Roak, Emre Karakoc, Kiana Mohajeri, Ben Nelson, Laura Vives, Sebastien Jacquemont, Jeff Munson, Raphe Bernier, Evan E Eichler. Am J Hum Genet 2013
65
7

A discovery resource of rare copy number variations in individuals with autism spectrum disorder.
Aparna Prasad, Daniele Merico, Bhooma Thiruvahindrapuram, John Wei, Anath C Lionel, Daisuke Sato, Jessica Rickaby, Chao Lu, Peter Szatmari, Wendy Roberts,[...]. G3 (Bethesda) 2012
123
7


CTNND2 deletion and intellectual disability.
Chiara Belcaro, Savina Dipresa, Giovanna Morini, Vanna Pecile, Aldo Skabar, Antonella Fabretto. Gene 2015
12
33

Clinical and molecular characterisation of 80 patients with 5p deletion: genotype-phenotype correlation.
P C Mainardi, C Perfumo, A Calì, G Coucourde, G Pastore, S Cavani, F Zara, J Overhauser, M Pierluigi, F D Bricarelli. J Med Genet 2001
105
7


Deletion of the telomerase reverse transcriptase gene and haploinsufficiency of telomere maintenance in Cri du chat syndrome.
Anju Zhang, Chengyun Zheng, Mi Hou, Charlotta Lindvall, Ke-Jun Li, Fredrik Erlandsson, Magnus Björkholm, Astrid Gruber, Elisabeth Blennow, Dawei Xu. Am J Hum Genet 2003
45
8

Clinical significance of de novo and inherited copy-number variation.
Anneke T Vulto-van Silfhout, Jayne Y Hehir-Kwa, Bregje W M van Bon, Janneke H M Schuurs-Hoeijmakers, Stephen Meader, Claudia J M Hellebrekers, Ilse J M Thoonen, Arjan P M de Brouwer, Han G Brunner, Caleb Webber,[...]. Hum Mutat 2013
76
7

Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study.
Anita Rauch, Dagmar Wieczorek, Elisabeth Graf, Thomas Wieland, Sabine Endele, Thomas Schwarzmayr, Beate Albrecht, Deborah Bartholdi, Jasmin Beygo, Nataliya Di Donato,[...]. Lancet 2012
664
7

Synaptic, transcriptional and chromatin genes disrupted in autism.
Silvia De Rubeis, Xin He, Arthur P Goldberg, Christopher S Poultney, Kaitlin Samocha, A Erucment Cicek, Yan Kou, Li Liu, Menachem Fromer, Susan Walker,[...]. Nature 2014
7

Molecular cytogenetic analysis and resequencing of contactin associated protein-like 2 in autism spectrum disorders.
Betul Bakkaloglu, Brian J O'Roak, Angeliki Louvi, Abha R Gupta, Jesse F Abelson, Thomas M Morgan, Katarzyna Chawarska, Ami Klin, A Gulhan Ercan-Sencicek, Althea A Stillman,[...]. Am J Hum Genet 2008
376
7

Loss of δ-catenin function in severe autism.
Tychele N Turner, Kamal Sharma, Edwin C Oh, Yangfan P Liu, Ryan L Collins, Maria X Sosa, Dallas R Auer, Harrison Brand, Stephan J Sanders, Daniel Moreno-De-Luca,[...]. Nature 2015
91
7

De novo intragenic deletion of the autism susceptibility candidate 2 (AUTS2) gene in a patient with developmental delay: a case report and literature review.
Alexandra Jolley, Mark Corbett, Lesley McGregor, Wendy Waters, Susan Brown, Jillian Nicholl, Sui Yu. Am J Med Genet A 2013
22
18

Cytoskeletal regulation by AUTS2 in neuronal migration and neuritogenesis.
Kei Hori, Taku Nagai, Wei Shan, Asami Sakamoto, Shinichiro Taya, Ryoya Hashimoto, Takashi Hayashi, Manabu Abe, Maya Yamazaki, Keiko Nakao,[...]. Cell Rep 2014
66
7

An AUTS2-Polycomb complex activates gene expression in the CNS.
Zhonghua Gao, Pedro Lee, James M Stafford, Melanie von Schimmelmann, Anne Schaefer, Danny Reinberg. Nature 2014
148
7

De novo exon 1 deletion of AUTS2 gene in a patient with autism spectrum disorder and developmental delay: a case report and a brief literature review.
Yi Liu, Dongmei Zhao, Rui Dong, Xiaomeng Yang, Yanqing Zhang, Kristiina Tammimies, Mohammed Uddin, Stephen W Scherer, Zhongtao Gai. Am J Med Genet A 2015
22
18

The Database of Genomic Variants: a curated collection of structural variation in the human genome.
Jeffrey R MacDonald, Robert Ziman, Ryan K C Yuen, Lars Feuk, Stephen W Scherer. Nucleic Acids Res 2014
637
7

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Erin B Kaminsky, Vineith Kaul, Justin Paschall, Deanna M Church, Brian Bunke, Dawn Kunig, Daniel Moreno-De-Luca, Andres Moreno-De-Luca, Jennifer G Mulle, Stephen T Warren,[...]. Genet Med 2011
287
7

Identification of small exonic CNV from whole-exome sequence data and application to autism spectrum disorder.
Christopher S Poultney, Arthur P Goldberg, Elodie Drapeau, Yan Kou, Hala Harony-Nicolas, Yuji Kajiwara, Silvia De Rubeis, Simon Durand, Christine Stevens, Karola Rehnström,[...]. Am J Hum Genet 2013
105
7

Acyl coenzyme A thioesterase 7 regulates neuronal fatty acid metabolism to prevent neurotoxicity.
Jessica M Ellis, G William Wong, Michael J Wolfgang. Mol Cell Biol 2013
47
8

Metabolic and tissue-specific regulation of acyl-CoA metabolism.
Jessica M Ellis, Caitlyn E Bowman, Michael J Wolfgang. PLoS One 2015
58
7

PLINK: a tool set for whole-genome association and population-based linkage analyses.
Shaun Purcell, Benjamin Neale, Kathe Todd-Brown, Lori Thomas, Manuel A R Ferreira, David Bender, Julian Maller, Pamela Sklar, Paul I W de Bakker, Mark J Daly,[...]. Am J Hum Genet 2007
5

delta-catenin, an adhesive junction-associated protein which promotes cell scattering.
Q Lu, M Paredes, M Medina, J Zhou, R Cavallo, M Peifer, L Orecchio, K S Kosik. J Cell Biol 1999
158
5

Intragenic duplication--a novel causative mechanism for SATB2-associated syndrome.
Agne Liedén, Malin Kvarnung, Daniel Nilssson, Ellika Sahlin, Elisabeth Syk Lundberg. Am J Med Genet A 2014
25
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.