A citation-based method for searching scientific literature

Marta Codina-Sola, Mar Costa-Roger, Debora Pérez-García, Raquel Flores, Maria Gabriela Palacios-Verdú, Ivon Cusco, Luis Alberto Pérez-Jurado. J Med Genet 2019
Times Cited: 4







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



Times Cited
  Times     Co-cited
Similarity


Molecular investigation, using chromosomal microarray and whole exome sequencing, of six patients affected by Williams Beuren syndrome and Autism Spectrum Disorder.
Julie Masson, Caroline Demily, Nicolas Chatron, Audrey Labalme, Pierre-Antoine Rollat-Farnier, Caroline Schluth-Bolard, Brigitte Gilbert-Dussardier, Fabienne Giuliano, Renaud Touraine, Sylvie Tordjman,[...]. Orphanet J Rare Dis 2019
5
75

7q11.23 Duplication syndrome: Physical characteristics and natural history.
Colleen A Morris, Carolyn B Mervis, Alex P Paciorkowski, Omar Abdul-Rahman, Sarah L Dugan, Alan F Rope, Patricia Bader, Laura G Hendon, Shelley L Velleman, Bonita P Klein-Tasman,[...]. Am J Med Genet A 2015
37
75

Children with 7q11.23 duplication syndrome: psychological characteristics.
Carolyn B Mervis, Bonita P Klein-Tasman, Myra J Huffman, Shelley L Velleman, C Holley Pitts, Danielle R Henderson, Janet Woodruff-Borden, Colleen A Morris, Lucy R Osborne. Am J Med Genet A 2015
27
50

Multiple recurrent de novo CNVs, including duplications of the 7q11.23 Williams syndrome region, are strongly associated with autism.
Stephan J Sanders, A Gulhan Ercan-Sencicek, Vanessa Hus, Rui Luo, Michael T Murtha, Daniel Moreno-De-Luca, Su H Chu, Michael P Moreau, Abha R Gupta, Susanne A Thomson,[...]. Neuron 2011
802
50


Severe expressive-language delay related to duplication of the Williams-Beuren locus.
Martin J Somerville, Carolyn B Mervis, Edwin J Young, Eul-Ju Seo, Miguel del Campo, Stephen Bamforth, Ella Peregrine, Wayne Loo, Margaret Lilley, Luis A Pérez-Jurado,[...]. N Engl J Med 2005
203
50

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
514
50

Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing.
Yong-hui Jiang, Ryan K C Yuen, Xin Jin, Mingbang Wang, Nong Chen, Xueli Wu, Jia Ju, Junpu Mei, Yujian Shi, Mingze He,[...]. Am J Hum Genet 2013
276
50

Autism Spectrum Symptomatology in Children with Williams Syndrome Who Have Phrase Speech or Fluent Language.
Bonita P Klein-Tasman, Faye van der Fluit, Carolyn B Mervis. J Autism Dev Disord 2018
16
50

Genetic architecture in autism spectrum disorder.
Bernie Devlin, Stephen W Scherer. Curr Opin Genet Dev 2012
299
50

Autism Spectrum Symptomatology Among Children with Duplication 7q11.23 Syndrome.
Bonita P Klein-Tasman, Carolyn B Mervis. J Autism Dev Disord 2018
10
50

Whole-genome sequencing of quartet families with autism spectrum disorder.
Ryan K C Yuen, Bhooma Thiruvahindrapuram, Daniele Merico, Susan Walker, Kristiina Tammimies, Ny Hoang, Christina Chrysler, Thomas Nalpathamkalam, Giovanna Pellecchia, Yi Liu,[...]. Nat Med 2015
292
50

Convergence of genes and cellular pathways dysregulated in autism spectrum disorders.
Dalila Pinto, Elsa Delaby, Daniele Merico, Mafalda Barbosa, Alison Merikangas, Lambertus Klei, Bhooma Thiruvahindrapuram, Xiao Xu, Robert Ziman, Zhuozhi Wang,[...]. Am J Hum Genet 2014
516
50

Strong association of de novo copy number mutations with autism.
Jonathan Sebat, B Lakshmi, Dheeraj Malhotra, Jennifer Troge, Christa Lese-Martin, Tom Walsh, Boris Yamrom, Seungtai Yoon, Alex Krasnitz, Jude Kendall,[...]. Science 2007
50

Rare variants in the genetic background modulate cognitive and developmental phenotypes in individuals carrying disease-associated variants.
Lucilla Pizzo, Matthew Jensen, Andrew Polyak, Jill A Rosenfeld, Katrin Mannik, Arjun Krishnan, Elizabeth McCready, Olivier Pichon, Cedric Le Caignec, Anke Van Dijck,[...]. Genet Med 2019
53
25

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
25

Rare de novo and transmitted copy-number variation in autistic spectrum disorders.
Dan Levy, Michael Ronemus, Boris Yamrom, Yoon-ha Lee, Anthony Leotta, Jude Kendall, Steven Marks, B Lakshmi, Deepa Pai, Kenny Ye,[...]. Neuron 2011
434
25

Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome.
Erwin Petek, Thomas Schwarzbraun, Abdul Noor, Megha Patel, Kazuhiko Nakabayashi, Sanaa Choufani, Christian Windpassinger, Mara Stamenkovic, Mary M Robertson, Harald N Aschauer,[...]. Mol Genet Genomics 2007
37
25

Association of IMMP2L deletions with autism spectrum disorder: A trio family study and meta-analysis.
Yanqing Zhang, Yi Liu, Mehdi Zarrei, Winnie Tong, Rui Dong, Ying Wang, Haiyan Zhang, Xiaomeng Yang, Jeffrey R MacDonald, Mohammed Uddin,[...]. Am J Med Genet B Neuropsychiatr Genet 2018
11
25


CREB up-regulates long non-coding RNA, HULC expression through interaction with microRNA-372 in liver cancer.
Jiayi Wang, Xiangfan Liu, Huacheng Wu, Peihua Ni, Zhidong Gu, Yongxia Qiao, Ning Chen, Fenyong Sun, Qishi Fan. Nucleic Acids Res 2010
730
25

Speech delay and autism spectrum behaviors are frequently associated with duplication of the 7q11.23 Williams-Beuren syndrome region.
Jonathan S Berg, Nicola Brunetti-Pierri, Sarika U Peters, Sung-Hae L Kang, Chin-to Fong, Jessica Salamone, Debra Freedenberg, Vickie L Hannig, Lisa Albers Prock, David T Miller,[...]. Genet Med 2007
134
25

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities.
Debra D'Angelo, Sébastien Lebon, Qixuan Chen, Sandra Martin-Brevet, LeeAnne Green Snyder, Loyse Hippolyte, Ellen Hanson, Anne M Maillard, W Andrew Faucett, Aurélien Macé,[...]. JAMA Psychiatry 2016
104
25

Fourteen new cases contribute to the characterization of the 7q11.23 microduplication syndrome.
Nathalie Van der Aa, Liesbeth Rooms, Geert Vandeweyer, Jenneke van den Ende, Edwin Reyniers, Marco Fichera, Corrado Romano, Barbara Delle Chiaie, Geert Mortier, Björn Menten,[...]. Eur J Med Genet 2009
113
25

A Comprehensive Workflow for Read Depth-Based Identification of Copy-Number Variation from Whole-Genome Sequence Data.
Brett Trost, Susan Walker, Zhuozhi Wang, Bhooma Thiruvahindrapuram, Jeffrey R MacDonald, Wilson W L Sung, Sergio L Pereira, Joe Whitney, Ada J S Chan, Giovanna Pellecchia,[...]. Am J Hum Genet 2018
69
25

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
25

Whole Genome Sequencing Expands Diagnostic Utility and Improves Clinical Management in Pediatric Medicine.
Dimitri J Stavropoulos, Daniele Merico, Rebekah Jobling, Sarah Bowdin, Nasim Monfared, Bhooma Thiruvahindrapuram, Thomas Nalpathamkalam, Giovanna Pellecchia, Ryan K C Yuen, Michael J Szego,[...]. NPJ Genom Med 2016
165
25

Oligogenic heterozygosity in individuals with high-functioning autism spectrum disorders.
Christian P Schaaf, Aniko Sabo, Yasunari Sakai, Jacy Crosby, Donna Muzny, Alicia Hawes, Lora Lewis, Humeira Akbar, Robin Varghese, Eric Boerwinkle,[...]. Hum Mol Genet 2011
98
25


Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.
Ahmad N Abou Tayoun, Tina Pesaran, Marina T DiStefano, Andrea Oza, Heidi L Rehm, Leslie G Biesecker, Steven M Harrison. Hum Mutat 2018
130
25

Genome-wide characteristics of de novo mutations in autism.
Ryan K C Yuen, Daniele Merico, Hongzhi Cao, Giovanna Pellecchia, Babak Alipanahi, Bhooma Thiruvahindrapuram, Xin Tong, Yuhui Sun, Dandan Cao, Tao Zhang,[...]. NPJ Genom Med 2016
104
25

Phenotypic expansion illuminates multilocus pathogenic variation.
Ender Karaca, Jennifer E Posey, Zeynep Coban Akdemir, Davut Pehlivan, Tamar Harel, Shalini N Jhangiani, Yavuz Bayram, Xiaofei Song, Vahid Bahrambeigi, Ozge Ozalp Yuregir,[...]. Genet Med 2018
52
25


Genome-wide detection of tandem DNA repeats that are expanded in autism.
Brett Trost, Worrawat Engchuan, Charlotte M Nguyen, Bhooma Thiruvahindrapuram, Egor Dolzhenko, Ian Backstrom, Mila Mirceta, Bahareh A Mojarad, Yue Yin, Alona Dov,[...]. Nature 2020
31
25

Predicting Splicing from Primary Sequence with Deep Learning.
Kishore Jaganathan, Sofia Kyriazopoulou Panagiotopoulou, Jeremy F McRae, Siavash Fazel Darbandi, David Knowles, Yang I Li, Jack A Kosmicki, Juan Arbelaez, Wenwu Cui, Grace B Schwartz,[...]. Cell 2019
276
25

Rare variants of small effect size in neuronal excitability genes influence clinical outcome in Japanese cases of SCN1A truncation-positive Dravet syndrome.
Michael F Hammer, Atsushi Ishii, Laurel Johnstone, Alexander Tchourbanov, Branden Lau, Ryan Sprissler, Brian Hallmark, Miao Zhang, Jin Zhou, Joseph Watkins,[...]. PLoS One 2017
11
25

Copy number variants at Williams-Beuren syndrome 7q11.23 region.
Giuseppe Merla, Nicola Brunetti-Pierri, Lucia Micale, Carmela Fusco. Hum Genet 2010
96
25

Association of GTF2i in the Williams-Beuren syndrome critical region with autism spectrum disorders.
Patrick Malenfant, Xudong Liu, Melissa L Hudson, Ying Qiao, Monica Hrynchak, Noémie Riendeau, M Jeannette Hildebrand, Ira L Cohen, Albert E Chudley, Cynthia Forster-Gibson,[...]. J Autism Dev Disord 2012
45
25

Standardizing ADOS scores for a measure of severity in autism spectrum disorders.
Katherine Gotham, Andrew Pickles, Catherine Lord. J Autism Dev Disord 2009
834
25

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
25

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
513
25

Extending the phenotype of recurrent rearrangements of 16p11.2: deletions in mentally retarded patients without autism and in normal individuals.
E K Bijlsma, A C J Gijsbers, J H M Schuurs-Hoeijmakers, A van Haeringen, D E Fransen van de Putte, B-M Anderlid, J Lundin, P Lapunzina, L A Pérez Jurado, B Delle Chiaie,[...]. Eur J Med Genet 2009
168
25

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Erin Rooney Riggs, Erica F Andersen, Athena M Cherry, Sibel Kantarci, Hutton Kearney, Ankita Patel, Gordana Raca, Deborah I Ritter, Sarah T South, Erik C Thorland,[...]. Genet Med 2020
136
25

The Role of mGluR Copy Number Variation in Genetic and Environmental Forms of Syndromic Autism Spectrum Disorder.
Tara L Wenger, Charlly Kao, Donna M McDonald-McGinn, Elaine H Zackai, Alice Bailey, Robert T Schultz, Bernice E Morrow, Beverly S Emanuel, Hakon Hakonarson. Sci Rep 2016
18
25

Disruption of a novel gene (IMMP2L) by a breakpoint in 7q31 associated with Tourette syndrome.
E Petek, C Windpassinger, J B Vincent, J Cheung, A P Boright, S W Scherer, P M Kroisel, K Wagner. Am J Hum Genet 2001
116
25

Mild macrocytosis in Williams-Beuren syndrome.
Eric Yu, Richard Feinn, Robert Bona, Benjamin Brink, Sampat Sindhar, Beth A Kozel, Barbara R Pober. Eur J Med Genet 2020
3
33

The 7q11.23 Protein DNAJC30 Interacts with ATP Synthase and Links Mitochondria to Brain Development.
Andrew T N Tebbenkamp, Luis Varela, Jinmyung Choi, Miguel I Paredes, Alice M Giani, Jae Eun Song, Matija Sestan-Pesa, Daniel Franjic, André M M Sousa, Zhong-Wu Liu,[...]. Cell 2018
16
25


High-throughput screening identifies histone deacetylase inhibitors that modulate GTF2I expression in 7q11.23 microduplication autism spectrum disorder patient-derived cortical neurons.
Francesca Cavallo, Flavia Troglio, Giovanni Fagà, Daniele Fancelli, Reinald Shyti, Sebastiano Trattaro, Matteo Zanella, Giuseppe D'Agostino, James M Hughes, Maria Rosaria Cera,[...]. Mol Autism 2020
1
100

Reciprocal duplication of the Williams-Beuren syndrome deletion on chromosome 7q11.23 is associated with schizophrenia.
Jennifer Gladys Mulle, Ann E Pulver, John A McGrath, Paula S Wolyniec, Anne F Dodd, David J Cutler, Jonathan Sebat, Dheeraj Malhotra, Gerald Nestadt, Donald F Conrad,[...]. Biol Psychiatry 2014
46
25


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.