A citation-based method for searching scientific literature

Hutton M Kearney, Erik C Thorland, Kerry K Brown, Fabiola Quintero-Rivera, Sarah T South. Genet Med 2011
Times Cited: 511







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



Times Cited
  Times     Co-cited
Similarity



Structural variation in the human genome.
Lars Feuk, Andrew R Carson, Stephen W Scherer. Nat Rev Genet 2006
3

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
295
3

ACOG and SMFM guidelines for prenatal diagnosis: Is karyotyping really sufficient?
Sara B Hay, Trilochan Sahoo, Mary K Travis, Karine Hovanes, Natasa Dzidic, Charles Doherty, Michelle N Strecker. Prenat Diagn 2018
31
9

Chromosomal Microarray Analysis Results From Pregnancies With Various Ultrasonographic Anomalies.
Lena Sagi-Dain, Idit Maya, Adi Reches, Ayala Frumkin, Julia Grinshpun-Cohen, Reeval Segel, Esther Manor, Morad Khayat, Tamar Tenne, Ehud Banne,[...]. Obstet Gynecol 2018
14
21

Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development.
Carin L Yates, Kristin G Monaghan, Deborah Copenheaver, Kyle Retterer, Julie Scuffins, Cathlin R Kucera, Bethany Friedman, Gabriele Richard, Jane Juusola. Genet Med 2017
56
5



Medical consequences of pathogenic CNVs in adults: analysis of the UK Biobank.
Karen Crawford, Matthew Bracher-Smith, David Owen, Kimberley M Kendall, Elliott Rees, Antonio F Pardiñas, Mark Einon, Valentina Escott-Price, James T R Walters, Michael C O'Donovan,[...]. J Med Genet 2019
38
7

Practice guideline: joint CCMG-SOGC recommendations for the use of chromosomal microarray analysis for prenatal diagnosis and assessment of fetal loss in Canada.
Christine M Armour, Shelley Danielle Dougan, Jo-Ann Brock, Radha Chari, Bernie N Chodirker, Isabelle DeBie, Jane A Evans, William T Gibson, Elena Kolomietz, Tanya N Nelson,[...]. J Med Genet 2018
28
10

CNVkit: Genome-Wide Copy Number Detection and Visualization from Targeted DNA Sequencing.
Eric Talevich, A Hunter Shain, Thomas Botton, Boris C Bastian. PLoS Comput Biol 2016
464
3


Clinical exome sequencing for genetic identification of rare Mendelian disorders.
Hane Lee, Joshua L Deignan, Naghmeh Dorrani, Samuel P Strom, Sibel Kantarci, Fabiola Quintero-Rivera, Kingshuk Das, Traci Toy, Bret Harry, Michael Yourshaw,[...]. JAMA 2014
553
3

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang, Donna M Muzny, Jeffrey G Reid, Matthew N Bainbridge, Alecia Willis, Patricia A Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu,[...]. N Engl J Med 2013
3

Microdeletion and microduplication syndromes.
Anja Weise, Kristin Mrasek, Elisabeth Klein, Milene Mulatinho, Juan C Llerena, David Hardekopf, Sona Pekova, Samarth Bhatt, Nadezda Kosyakova, Thomas Liehr. J Histochem Cytochem 2012
78
3

Detection of large-scale variation in the human genome.
A John Iafrate, Lars Feuk, Miguel N Rivera, Marc L Listewnik, Patricia K Donahoe, Ying Qi, Stephen W Scherer, Charles Lee. Nat Genet 2004
3

ACMG clinical laboratory standards for next-generation sequencing.
Heidi L Rehm, Sherri J Bale, Pinar Bayrak-Toydemir, Jonathan S Berg, Kerry K Brown, Joshua L Deignan, Michael J Friez, Birgit H Funke, Madhuri R Hegde, Elaine Lyon. Genet Med 2013
525
3

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Siddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, David H Ledbetter, Christa L Martin, Wendy K Chung, Helen V Firth, Thomas Frazier, Robin L Hansen, Lisa Prock,[...]. Genet Med 2019
91
3

Standardizing ADOS scores for a measure of severity in autism spectrum disorders.
Katherine Gotham, Andrew Pickles, Catherine Lord. J Autism Dev Disord 2009
829
3


Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications.
Xiaoyu Chen, Ole Schulz-Trieglaff, Richard Shaw, Bret Barnes, Felix Schlesinger, Morten Källberg, Anthony J Cox, Semyon Kruglyak, Christopher T Saunders. Bioinformatics 2016
451
3

Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders.
S Ben-Shachar, B Lanpher, J R German, M Qasaymeh, L Potocki, S C Sreenath Nagamani, L M Franco, A Malphrus, G W Bottenfield, J E Spence,[...]. J Med Genet 2009
158
3

Large-Scale Exome Sequencing Study Implicates Both Developmental and Functional Changes in the Neurobiology of Autism.
F Kyle Satterstrom, Jack A Kosmicki, Jiebiao Wang, Michael S Breen, Silvia De Rubeis, Joon-Yong An, Minshi Peng, Ryan Collins, Jakob Grove, Lambertus Klei,[...]. Cell 2020
297
3

Large-scale copy number polymorphism in the human genome.
Jonathan Sebat, B Lakshmi, Jennifer Troge, Joan Alexander, Janet Young, Pär Lundin, Susanne Månér, Hillary Massa, Megan Walker, Maoyen Chi,[...]. Science 2004
3

Women's experiences receiving abnormal prenatal chromosomal microarray testing results.
Barbara A Bernhardt, Danielle Soucier, Karen Hanson, Melissa S Savage, Laird Jackson, Ronald J Wapner. Genet Med 2013
128
3

Frequency of submicroscopic chromosomal aberrations in pregnancies without increased risk for structural chromosomal aberrations: systematic review and meta-analysis.
M I Srebniak, M Joosten, M F C M Knapen, L R Arends, M Polak, S van Veen, A T J I Go, D Van Opstal. Ultrasound Obstet Gynecol 2018
38
7

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Caroline F Wright, Tomas W Fitzgerald, Wendy D Jones, Stephen Clayton, Jeremy F McRae, Margriet van Kogelenberg, Daniel A King, Kirsty Ambridge, Daniel M Barrett, Tanya Bayzetinova,[...]. Lancet 2015
357
3

ClinVar: public archive of relationships among sequence variation and human phenotype.
Melissa J Landrum, Jennifer M Lee, George R Riley, Wonhee Jang, Wendy S Rubinstein, Deanna M Church, Donna R Maglott. Nucleic Acids Res 2014
3


A method and server for predicting damaging missense mutations.
Ivan A Adzhubei, Steffen Schmidt, Leonid Peshkin, Vasily E Ramensky, Anna Gerasimova, Peer Bork, Alexey S Kondrashov, Shamil R Sunyaev. Nat Methods 2010
3

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole-exome sequencing as a first-line diagnostic test.
J Thevenon, Y Duffourd, A Masurel-Paulet, M Lefebvre, F Feillet, S El Chehadeh-Djebbar, J St-Onge, A Steinmetz, F Huet, M Chouchane,[...]. Clin Genet 2016
123
3

Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer: A Joint Consensus Recommendation of the Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists.
Marilyn M Li, Michael Datto, Eric J Duncavage, Shashikant Kulkarni, Neal I Lindeman, Somak Roy, Apostolia M Tsimberidou, Cindy L Vnencak-Jones, Daynna J Wolff, Anas Younes,[...]. J Mol Diagn 2017
510
3

Genetic diagnosis of Mendelian disorders via RNA sequencing.
Laura S Kremer, Daniel M Bader, Christian Mertes, Robert Kopajtich, Garwin Pichler, Arcangela Iuso, Tobias B Haack, Elisabeth Graf, Thomas Schwarzmayr, Caterina Terrile,[...]. Nat Commun 2017
191
3

Accurate mitochondrial DNA sequencing using off-target reads provides a single test to identify pathogenic point mutations.
Helen R Griffin, Angela Pyle, Emma L Blakely, Charlotte L Alston, Jennifer Duff, Gavin Hudson, Rita Horvath, Ian J Wilson, Mauro Santibanez-Koref, Robert W Taylor,[...]. Genet Med 2014
36
8

The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Qingguo Jiao, Haiming Sun, Haoya Zhang, Ran Wang, Suting Li, Dan Sun, Xiu-An Yang, Yan Jin. Clin Genet 2019
14
21

Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.
Chao Gao, Xiaona Wang, Shiyue Mei, Dongxiao Li, Jiali Duan, Pei Zhang, Baiyun Chen, Liang Han, Yang Gao, Zhenhua Yang,[...]. Front Genet 2019
7
42

Genomic Microarray in Fetuses with Early Growth Restriction: A Multicenter Study.
Antoni Borrell, Maribel Grande, Eva Meler, Joan Sabrià, Edurne Mazarico, Anna Muñoz, Laia Rodriguez-Revenga, Cèlia Badenas, Francesc Figueras. Fetal Diagn Ther 2017
11
27

Paediatric genomics: diagnosing rare disease in children.
Caroline F Wright, David R FitzPatrick, Helen V Firth. Nat Rev Genet 2018
129
3

Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
Brian J O'Roak, Laura Vives, Santhosh Girirajan, Emre Karakoc, Niklas Krumm, Bradley P Coe, Roie Levy, Arthur Ko, Choli Lee, Joshua D Smith,[...]. Nature 2012
3

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
290
3

ClinVar: public archive of interpretations of clinically relevant variants.
Melissa J Landrum, Jennifer M Lee, Mark Benson, Garth Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Jeffrey Hoover,[...]. Nucleic Acids Res 2016
3

Proteomics. Tissue-based map of the human proteome.
Mathias Uhlén, Linn Fagerberg, Björn M Hallström, Cecilia Lindskog, Per Oksvold, Adil Mardinoglu, Åsa Sivertsson, Caroline Kampf, Evelina Sjöstedt, Anna Asplund,[...]. Science 2015
2

Risk of selected structural abnormalities in infants after increased nuchal translucency measurement.
Rebecca J Baer, Mary E Norton, Gary M Shaw, Monica C Flessel, Sara Goldman, Robert J Currier, Laura L Jelliffe-Pawlowski. Am J Obstet Gynecol 2014
51
3

Chromosomal microarray in fetuses with increased nuchal translucency.
I C B Lund, R Christensen, O B Petersen, I Vogel, E M Vestergaard. Ultrasound Obstet Gynecol 2015
31
6


Increased nuchal translucency thickness and risk of neurodevelopmental disorders.
S G Hellmuth, L H Pedersen, C B Miltoft, O B Petersen, S Kjaergaard, C Ekelund, A Tabor. Ultrasound Obstet Gynecol 2017
10
20

Universal Prenatal Chromosomal Microarray Analysis: Additive Value and Clinical Dilemmas in Fetuses with a Normal Karyotype.
Eran Bornstein, Sharon Berger, Sau W Cheung, Kristen T Maliszewski, Ankita Patel, Amber N Pursley, Erez Lenchner, Carlos Bacino, Arthur L Beaudet, Michael Y Divon. Am J Perinatol 2017
13
15


Additional information from array comparative genomic hybridization technology over conventional karyotyping in prenatal diagnosis: a systematic review and meta-analysis.
S C Hillman, S Pretlove, A Coomarasamy, D J McMullan, E V Davison, E R Maher, M D Kilby. Ultrasound Obstet Gynecol 2011
153
2

Contribution of genomic copy-number variations in prenatal oral clefts: a multicenter cohort study.
Ye Cao, Zhihua Li, Jill A Rosenfeld, Amber N Pursley, Ankita Patel, Jin Huang, Huilin Wang, Min Chen, Xiaofang Sun, Tak Yeung Leung,[...]. Genet Med 2016
13
15


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.