A citation-based method for searching scientific literature

Sarah T South, Charles Lee, Allen N Lamb, Anne W Higgins, Hutton M Kearney. Genet Med 2013
Times Cited: 159







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



Times Cited
  Times     Co-cited
Similarity


Recurrent reciprocal genomic rearrangements of 17q12 are associated with renal disease, diabetes, and epilepsy.
Heather C Mefford, Severine Clauin, Andrew J Sharp, Rikke S Moller, Reinhard Ullmann, Raj Kapur, Dan Pinkel, Gregory M Cooper, Mario Ventura, H Hilger Ropers,[...]. Am J Hum Genet 2007
174
5

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
5

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
5


Association between microdeletion and microduplication at 16p11.2 and autism.
Lauren A Weiss, Yiping Shen, Joshua M Korn, Dan E Arking, David T Miller, Ragnheidur Fossdal, Evald Saemundsen, Hreinn Stefansson, Manuel A R Ferreira, Todd Green,[...]. N Engl J Med 2008
5

Rapid whole-genome sequencing decreases infant morbidity and cost of hospitalization.
Lauge Farnaes, Amber Hildreth, Nathaly M Sweeney, Michelle M Clark, Shimul Chowdhury, Shareef Nahas, Julie A Cakici, Wendy Benson, Robert H Kaplan, Richard Kronick,[...]. NPJ Genom Med 2018
123
5

High-resolution chromosomal microarrays in prenatal diagnosis significantly increase diagnostic power.
Beatrice Oneda, Rosa Baldinger, Regina Reissmann, Irina Reshetnikova, Pavel Krejci, Rahim Masood, Nicole Ochsenbein-Kölble, Deborah Bartholdi, Katharina Steindl, Denise Morotti,[...]. Prenat Diagn 2014
29
17

Implementation of genomic arrays in prenatal diagnosis: the Belgian approach to meet the challenges.
Olivier Vanakker, Catheline Vilain, Katrien Janssens, Nathalie Van der Aa, Guillaume Smits, Claude Bandelier, Bettina Blaumeiser, Saskia Bulk, Jean-Hubert Caberg, Anne De Leener,[...]. Eur J Med Genet 2014
59
8

Genetics of early miscarriage.
Merel M J van den Berg, Merel C van Maarle, Madelon van Wely, Mariëtte Goddijn. Biochim Biophys Acta 2012
112
5

Prenatal diagnosis by chromosomal microarray analysis.
Brynn Levy, Ronald Wapner. Fertil Steril 2018
87
5

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.
Michelle M Clark, Zornitza Stark, Lauge Farnaes, Tiong Y Tan, Susan M White, David Dimmock, Stephen F Kingsmore. NPJ Genom Med 2018
145
5

Prenatal exome sequencing analysis in fetal structural anomalies detected by ultrasonography (PAGE): a cohort study.
Jenny Lord, Dominic J McMullan, Ruth Y Eberhardt, Gabriele Rinck, Susan J Hamilton, Elizabeth Quinlan-Jones, Elena Prigmore, Rebecca Keelagher, Sunayna K Best, Georgina K Carey,[...]. Lancet 2019
136
5

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
17

ClinGen--the Clinical Genome Resource.
Heidi L Rehm, Jonathan S Berg, Lisa D Brooks, Carlos D Bustamante, James P Evans, Melissa J Landrum, David H Ledbetter, Donna R Maglott, Christa Lese Martin, Robert L Nussbaum,[...]. N Engl J Med 2015
474
4

Deletions of recessive disease genes: CNV contribution to carrier states and disease-causing alleles.
Philip M Boone, Ian M Campbell, Brett C Baggett, Zachry T Soens, Mitchell M Rao, Patricia M Hixson, Ankita Patel, Weimin Bi, Sau Wai Cheung, Seema R Lalani,[...]. Genome Res 2013
47
8

Mild recessive mutations in six Fraser syndrome-related genes cause isolated congenital anomalies of the kidney and urinary tract.
Stefan Kohl, Daw-Yang Hwang, Gabriel C Dworschak, Alina C Hilger, Pawaree Saisawat, Asaf Vivante, Natasa Stajic, Radovan Bogdanovic, Heiko M Reutter, Elijah O Kehinde,[...]. J Am Soc Nephrol 2014
57
7

Copy-number variation associated with congenital anomalies of the kidney and urinary tract.
Georgina Caruana, Milagros N Wong, Amanda Walker, Yves Heloury, Nathalie Webb, Lilian Johnstone, Paul A James, Trent Burgess, John F Bertram. Pediatr Nephrol 2015
36
11

Genetic Drivers of Kidney Defects in the DiGeorge Syndrome.
Esther Lopez-Rivera, Yangfan P Liu, Miguel Verbitsky, Blair R Anderson, Valentina P Capone, Edgar A Otto, Zhonghai Yan, Adele Mitrotti, Jeremiah Martino, Nicholas J Steers,[...]. N Engl J Med 2017
62
6

Exploring the genetic basis of early-onset chronic kidney disease.
Asaf Vivante, Friedhelm Hildebrandt. Nat Rev Nephrol 2016
132
4

HNF1B and PAX2 mutations are a common cause of renal hypodysplasia in the CKiD cohort.
Rosemary Thomas, Simone Sanna-Cherchi, Bradley A Warady, Susan L Furth, Frederick J Kaskel, Ali G Gharavi. Pediatr Nephrol 2011
74
5

Diagnostic exome sequencing in persons with severe intellectual disability.
Joep de Ligt, Marjolein H Willemsen, Bregje W M van Bon, Tjitske Kleefstra, Helger G Yntema, Thessa Kroes, Anneke T Vulto-van Silfhout, David A Koolen, Petra de Vries, Christian Gilissen,[...]. N Engl J Med 2012
955
4

Mutations in TBX18 Cause Dominant Urinary Tract Malformations via Transcriptional Dysregulation of Ureter Development.
Asaf Vivante, Marc-Jens Kleppa, Julian Schulz, Stefan Kohl, Amita Sharma, Jing Chen, Shirlee Shril, Daw-Yang Hwang, Anna-Carina Weiss, Michael M Kaminski,[...]. Am J Hum Genet 2015
40
10

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders.
Vandana Shashi, Allyn McConkie-Rosell, Bruce Rosell, Kelly Schoch, Kasturi Vellore, Marie McDonald, Yong-Hui Jiang, Pingxing Xie, Anna Need, David B Goldstein. Genet Med 2014
151
4

Prioritization and burden analysis of rare variants in 208 candidate genes suggest they do not play a major role in CAKUT.
Nayia Nicolaou, Sara L Pulit, Isaac J Nijman, Glen R Monroe, Wout F J Feitz, Michiel F Schreuder, Albertien M van Eerde, Tom P V M de Jong, Jacques C Giltay, Bert van der Zwaag,[...]. Kidney Int 2016
46
8

Genetic, environmental, and epigenetic factors involved in CAKUT.
Nayia Nicolaou, Kirsten Y Renkema, Ernie M H F Bongers, Rachel H Giles, Nine V A M Knoers. Nat Rev Nephrol 2015
115
4

A global reference for human genetic variation.
Adam Auton, Lisa D Brooks, Richard M Durbin, Erik P Garrison, Hyun Min Kang, Jan O Korbel, Jonathan L Marchini, Shane McCarthy, Gil A McVean, Gonçalo R Abecasis. Nature 2015
4

The genetics of microdeletion and microduplication syndromes: an update.
Corey T Watson, Tomas Marques-Bonet, Andrew J Sharp, Heather C Mefford. Annu Rev Genomics Hum Genet 2014
77
5

Association of copy number variants with specific ultrasonographically detected fetal anomalies.
Jennifer C Donnelly, Lawrence D Platt, Andrei Rebarber, Julia Zachary, William A Grobman, Ronald J Wapner. Obstet Gynecol 2014
81
4


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
103
4

Prenatal chromosomal microarray analysis in a diagnostic laboratory; experience with >1000 cases and review of the literature.
Amy Breman, Amber N Pursley, Patricia Hixson, Weimin Bi, Patricia Ward, Carlos A Bacino, Chad Shaw, James R Lupski, Arthur Beaudet, Ankita Patel,[...]. Prenat Diagn 2012
74
5

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Daniel Trujillano, Aida M Bertoli-Avella, Krishna Kumar Kandaswamy, Maximilian Er Weiss, Julia Köster, Anett Marais, Omid Paknia, Rolf Schröder, Jose Maria Garcia-Aznar, Martin Werber,[...]. Eur J Hum Genet 2017
168
4


Improved diagnostic yield compared with targeted gene sequencing panels suggests a role for whole-genome sequencing as a first-tier genetic test.
Anath C Lionel, Gregory Costain, Nasim Monfared, Susan Walker, Miriam S Reuter, S Mohsen Hosseini, Bhooma Thiruvahindrapuram, Daniele Merico, Rebekah Jobling, Thomas Nalpathamkalam,[...]. Genet Med 2018
171
4

An integrated map of structural variation in 2,504 human genomes.
Peter H Sudmant, Tobias Rausch, Eugene J Gardner, Robert E Handsaker, Alexej Abyzov, John Huddleston, Yan Zhang, Kai Ye, Goo Jun, Markus Hsi-Yang Fritz,[...]. Nature 2015
927
4

Procedure-related risk of miscarriage following amniocentesis and chorionic villus sampling: a systematic review and meta-analysis.
R Akolekar, J Beta, G Picciarelli, C Ogilvie, F D'Antonio. Ultrasound Obstet Gynecol 2015
316
4

Genetic basis of human congenital anomalies of the kidney and urinary tract.
Simone Sanna-Cherchi, Rik Westland, Gian Marco Ghiggeri, Ali G Gharavi. J Clin Invest 2018
32
12

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
4


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
284
4


The Sequence Alignment/Map format and SAMtools.
Heng Li, Bob Handsaker, Alec Wysoker, Tim Fennell, Jue Ruan, Nils Homer, Gabor Marth, Goncalo Abecasis, Richard Durbin. Bioinformatics 2009
4

Genomic imbalance in products of conception: single-nucleotide polymorphism chromosomal microarray analysis.
Brynn Levy, Styrmir Sigurjonsson, Barbara Pettersen, Melissa K Maisenbacher, Megan P Hall, Zachary Demko, Ruth B Lathi, Rosina Tao, Vimla Aggarwal, Matthew Rabinowitz. Obstet Gynecol 2014
88
4

Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study.
Slavé Petrovski, Vimla Aggarwal, Jessica L Giordano, Melissa Stosic, Karen Wou, Louise Bier, Erica Spiegel, Kelly Brennan, Nicholas Stong, Vaidehi Jobanputra,[...]. Lancet 2019
102
4

When genotype is not predictive of phenotype: implications for genetic counseling based on 21,594 chromosomal microarray analysis examinations.
Idit Maya, Reuven Sharony, Shiri Yacobson, Sarit Kahana, Josepha Yeshaya, Tamar Tenne, Ifaat Agmon-Fishman, Lital Cohen-Vig, Yael Goldberg, Racheli Berger,[...]. Genet Med 2018
27
14

Whole exome sequencing as a diagnostic adjunct to clinical testing in fetuses with structural abnormalities.
F Fu, R Li, Y Li, Z-Q Nie, T Lei, D Wang, X Yang, J Han, M Pan, L Zhen,[...]. Ultrasound Obstet Gynecol 2018
49
8

Utility of whole-exome sequencing for those near the end of the diagnostic odyssey: time to address gaps in care.
S L Sawyer, T Hartley, D A Dyment, C L Beaulieu, J Schwartzentruber, A Smith, H M Bedford, G Bernard, F P Bernier, B Brais,[...]. Clin Genet 2016
201
3

Combined array CGH plus SNP genome analyses in a single assay for optimized clinical testing.
Joanna Wiszniewska, Weimin Bi, Chad Shaw, Pawel Stankiewicz, Sung-Hae L Kang, Amber N Pursley, Seema Lalani, Patricia Hixson, Tomasz Gambin, Chun-hui Tsai,[...]. Eur J Hum Genet 2014
79
3

Exome sequencing and whole genome sequencing for the detection of copy number variation.
Jayne Y Hehir-Kwa, Rolph Pfundt, Joris A Veltman. Expert Rev Mol Diagn 2015
42
7

APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.
Anne Rovelet-Lecrux, Didier Hannequin, Gregory Raux, Nathalie Le Meur, Annie Laquerrière, Anne Vital, Cécile Dumanchin, Sébastien Feuillette, Alexis Brice, Martine Vercelletto,[...]. Nat Genet 2006
805
3


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.