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: 149







List of co-cited articles
580 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
38

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
490
37

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
597
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
23

Use of prenatal chromosomal microarray: prospective cohort study and systematic review and meta-analysis.
S C Hillman, D J McMullan, G Hall, F S Togneri, N James, E J Maher, C H Meller, D Williams, R J Wapner, E R Maher,[...]. Ultrasound Obstet Gynecol 2013
142
13

Experience with microarray-based comparative genomic hybridization for prenatal diagnosis in over 5000 pregnancies.
Lisa G Shaffer, Mindy P Dabell, Allan J Fisher, Justine Coppinger, Anne M Bandholz, Jay W Ellison, J Britt Ravnan, Beth S Torchia, Blake C Ballif, Jill A Rosenfeld. Prenat Diagn 2012
126
12

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
778
12

Karyotype versus microarray testing for genetic abnormalities after stillbirth.
Uma M Reddy, Grier P Page, George R Saade, Robert M Silver, Vanessa R Thorsten, Corette B Parker, Halit Pinar, Marian Willinger, Barbara J Stoll, Josefine Heim-Hall,[...]. N Engl J Med 2012
131
11

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
103
10

Detection rates of clinically significant genomic alterations by microarray analysis for specific anomalies detected by ultrasound.
Lisa G Shaffer, Jill A Rosenfeld, Mindy P Dabell, Justine Coppinger, Anne M Bandholz, Jay W Ellison, J Britt Ravnan, Beth S Torchia, Blake C Ballif, Allan J Fisher. Prenat Diagn 2012
129
9

Analysis of protein-coding genetic variation in 60,706 humans.
Monkol Lek, Konrad J Karczewski, Eric V Minikel, Kaitlin E Samocha, Eric Banks, Timothy Fennell, Anne H O'Donnell-Luria, James S Ware, Andrew J Hill, Beryl B Cummings,[...]. Nature 2016
9


Benefits and burdens of using a SNP array in pregnancies at increased risk for the common aneuploidies.
Diane Van Opstal, Femke de Vries, Lutgarde Govaerts, Marjan Boter, Debora Lont, Stefanie van Veen, Marieke Joosten, Karin Diderich, Robert-Jan Galjaard, Malgorzata I Srebniak. Hum Mutat 2015
39
20

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
8

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
156
8

Estimates of penetrance for recurrent pathogenic copy-number variations.
Jill A Rosenfeld, Bradley P Coe, Evan E Eichler, Howard Cuckle, Lisa G Shaffer. Genet Med 2013
174
7

Prevalence of recurrent pathogenic microdeletions and microduplications in over 9500 pregnancies.
Francesca Romana Grati, Denise Molina Gomes, Jose Carlos Pinto B Ferreira, Celine Dupont, Viola Alesi, Laetitia Gouas, Nina Horelli-Kuitunen, Kwong Wai Choy, Sandra García-Herrero, Alberto Gonzalez de la Vega,[...]. Prenat Diagn 2015
146
7

Copy-number disorders are a common cause of congenital kidney malformations.
Simone Sanna-Cherchi, Krzysztof Kiryluk, Katelyn E Burgess, Monica Bodria, Matthew G Sampson, Dexter Hadley, Shannon N Nees, Miguel Verbitsky, Brittany J Perry, Roel Sterken,[...]. Am J Hum Genet 2012
118
7

Recommendations for reporting of secondary findings in clinical exome and genome sequencing, 2016 update (ACMG SF v2.0): a policy statement of the American College of Medical Genetics and Genomics.
Sarah S Kalia, Kathy Adelman, Sherri J Bale, Wendy K Chung, Christine Eng, James P Evans, Gail E Herman, Sophia B Hufnagel, Teri E Klein, Bruce R Korf,[...]. Genet Med 2017
740
7

Copy number variation analysis identifies novel CAKUT candidate genes in children with a solitary functioning kidney.
Rik Westland, Miguel Verbitsky, Katarina Vukojevic, Brittany J Perry, David A Fasel, Petra J G Zwijnenburg, Arend Bökenkamp, Johan J P Gille, Mirna Saraga-Babic, Gian Marco Ghiggeri,[...]. Kidney Int 2015
40
17

Genomic imbalances in pediatric patients with chronic kidney disease.
Miguel Verbitsky, Simone Sanna-Cherchi, David A Fasel, Brynn Levy, Krzysztof Kiryluk, Matthias Wuttke, Alison G Abraham, Frederick Kaskel, Anna Köttgen, Bradley A Warady,[...]. J Clin Invest 2015
45
15


DECIPHER: Database of Chromosomal Imbalance and Phenotype in Humans Using Ensembl Resources.
Helen V Firth, Shola M Richards, A Paul Bevan, Stephen Clayton, Manuel Corpas, Diana Rajan, Steven Van Vooren, Yves Moreau, Roger M Pettett, Nigel P Carter. Am J Hum Genet 2009
860
7

Prenatal SNP array testing in 1000 fetuses with ultrasound anomalies: causative, unexpected and susceptibility CNVs.
Malgorzata I Srebniak, Karin Em Diderich, Marieke Joosten, Lutgarde Cp Govaerts, Jeroen Knijnenburg, Femke At de Vries, Marjan Boter, Debora Lont, Maarten Fcm Knapen, Merel C de Wit,[...]. Eur J Hum Genet 2016
35
17

Towards an evidence-based process for the clinical interpretation of copy number variation.
E R Riggs, D M Church, K Hanson, V L Horner, E B Kaminsky, R M Kuhn, K E Wain, E S Williams, S Aradhya, H M Kearney,[...]. Clin Genet 2012
57
10

Phenotypic heterogeneity of genomic disorders and rare copy-number variants.
Santhosh Girirajan, Jill A Rosenfeld, Bradley P Coe, Sumit Parikh, Neil Friedman, Amy Goldstein, Robyn A Filipink, Juliann S McConnell, Brad Angle, Wendy S Meschino,[...]. N Engl J Med 2012
336
6


Molecular findings among patients referred for clinical whole-exome sequencing.
Yaping Yang, Donna M Muzny, Fan Xia, Zhiyv Niu, Richard Person, Yan Ding, Patricia Ward, Alicia Braxton, Min Wang, Christian Buhay,[...]. JAMA 2014
747
6

Global variation in copy number in the human genome.
Richard Redon, Shumpei Ishikawa, Karen R Fitch, Lars Feuk, George H Perry, T Daniel Andrews, Heike Fiegler, Michael H Shapero, Andrew R Carson, Wenwei Chen,[...]. Nature 2006
6

Mechanisms underlying structural variant formation in genomic disorders.
Claudia M B Carvalho, James R Lupski. Nat Rev Genet 2016
248
6

Genomic Disorders and Neurocognitive Impairment in Pediatric CKD.
Miguel Verbitsky, Amy J Kogon, Matthew Matheson, Stephen R Hooper, Craig S Wong, Bradley A Warady, Susan L Furth, Ali G Gharavi. J Am Soc Nephrol 2017
17
35

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.
Daw-Yang Hwang, Gabriel C Dworschak, Stefan Kohl, Pawaree Saisawat, Asaf Vivante, Alina C Hilger, Heiko M Reutter, Neveen A Soliman, Radovan Bogdanovic, Elijah O Kehinde,[...]. Kidney Int 2014
117
6

Low-pass whole-genome sequencing in clinical cytogenetics: a validated approach.
Zirui Dong, Jun Zhang, Ping Hu, Haixiao Chen, Jinjin Xu, Qi Tian, Lu Meng, Yanchou Ye, Jun Wang, Meiyan Zhang,[...]. Genet Med 2016
66
9



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
309
6

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
603
6

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
6

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
35
17

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
76
6


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
71
7

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
25
20

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
267
5

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
56
8

Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Rolph Pfundt, Marisol Del Rosario, Lisenka E L M Vissers, Michael P Kwint, Irene M Janssen, Nicole de Leeuw, Helger G Yntema, Marcel R Nelen, Dorien Lugtenberg, Erik-Jan Kamsteeg,[...]. Genet Med 2017
70
7

Next-generation sequencing of duplication CNVs reveals that most are tandem and some create fusion genes at breakpoints.
Scott Newman, Karen E Hermetz, Brooke Weckselblatt, M Katharine Rudd. Am J Hum Genet 2015
78
6

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
600
5

Molecular Diagnostic Yield of Chromosomal Microarray Analysis and Whole-Exome Sequencing in Children With Autism Spectrum Disorder.
Kristiina Tammimies, Christian R Marshall, Susan Walker, Gaganjot Kaur, Bhooma Thiruvahindrapuram, Anath C Lionel, Ryan K C Yuen, Mohammed Uddin, Wendy Roberts, Rosanna Weksberg,[...]. JAMA 2015
186
5

Clinical application of whole-exome sequencing across clinical indications.
Kyle Retterer, Jane Juusola, Megan T Cho, Patrik Vitazka, Francisca Millan, Federica Gibellini, Annette Vertino-Bell, Nizar Smaoui, Julie Neidich, Kristin G Monaghan,[...]. Genet Med 2016
395
5


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.