A citation-based method for searching scientific literature

Ignatia B van den Veyver, Christine M Eng. Cold Spring Harb Perspect Med 2015
Times Cited: 26







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



Times Cited
  Times     Co-cited
Similarity


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
53

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
38

Exome sequencing improves genetic diagnosis of structural fetal abnormalities revealed by ultrasound.
Keren J Carss, Sarah C Hillman, Vijaya Parthiban, Dominic J McMullan, Eamonn R Maher, Mark D Kilby, Matthew E Hurles. Hum Mol Genet 2014
107
34

Prenatal exome sequencing for fetuses with structural abnormalities: the next step.
S C Hillman, D Willams, K J Carss, D J McMullan, M E Hurles, M D Kilby. Ultrasound Obstet Gynecol 2015
38
34

Exome sequencing for prenatal diagnosis of fetuses with sonographic abnormalities.
Suzanne Drury, Hywel Williams, Natalie Trump, Christopher Boustred, Nicholas Lench, Richard H Scott, Lyn S Chitty. Prenat Diagn 2015
114
30

Promises, pitfalls and practicalities of prenatal whole exome sequencing.
Sunayna Best, Karen Wou, Neeta Vora, Ignatia B Van der Veyver, Ronald Wapner, Lyn S Chitty. Prenat Diagn 2018
133
30


Prenatal exome sequencing in anomalous fetuses: new opportunities and challenges.
Neeta L Vora, Bradford Powell, Alicia Brandt, Natasha Strande, Emily Hardisty, Kelly Gilmore, Ann Katherine M Foreman, Kirk Wilhelmsen, Chris Bizon, Jason Reilly,[...]. Genet Med 2017
86
26

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
63
26

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
166
26

Clinical diagnosis by whole-genome sequencing of a prenatal sample.
Michael E Talkowski, Zehra Ordulu, Vamsee Pillalamarri, Carol B Benson, Ian Blumenthal, Susan Connolly, Carrie Hanscom, Naveed Hussain, Shahrin Pereira, Jonathan Picker,[...]. N Engl J Med 2012
120
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
158
23

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
664
23

Prenatal DNA Sequencing: Clinical, Counseling, and Diagnostic Laboratory Considerations.
Ahmad N Abou Tayoun, Nancy B Spinner, Heidi L Rehm, Robert C Green, Diana W Bianchi. Prenat Diagn 2018
35
23

Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder.
Elizabeth A Normand, Alicia Braxton, Salma Nassef, Patricia A Ward, Francesco Vetrini, Weimin He, Vipulkumar Patel, Chunjing Qu, Lauren E Westerfield, Samantha Stover,[...]. Genome Med 2018
49
23

Exome sequencing identifies mutations in KIF14 as a novel cause of an autosomal recessive lethal fetal ciliopathy phenotype.
I Filges, E Nosova, E Bruder, S Tercanli, K Townsend, W T Gibson, B Röthlisberger, K Heinimann, J G Hall, C Y Gregory-Evans,[...]. Clin Genet 2014
70
19

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
819
19

Exome sequencing positively identified relevant alterations in more than half of cases with an indication of prenatal ultrasound anomalies.
Christina L Alamillo, Zöe Powis, Kelly Farwell, Layla Shahmirzadi, Elaine C Weltmer, John Turocy, Thomas Lowe, Christine Kobelka, Emily Chen, Donald Basel,[...]. Prenat Diagn 2015
54
19

Diagnosis of lethal or prenatal-onset autosomal recessive disorders by parental exome sequencing.
Karen L Stals, Matthew Wakeling, Júlia Baptista, Richard Caswell, Andrew Parrish, Julia Rankin, Carolyn Tysoe, Garan Jones, Adam C Gunning, Hana Lango Allen,[...]. Prenat Diagn 2018
37
19

Rapid prenatal diagnosis using targeted exome sequencing: a cohort study to assess feasibility and potential impact on prenatal counseling and pregnancy management.
Natalie Chandler, Sunayna Best, Jane Hayward, Francesca Faravelli, Sahar Mansour, Emma Kivuva, Dagmar Tapon, Alison Male, Catherine DeVile, Lyn S Chitty. Genet Med 2018
59
19


Molecular autopsy in maternal-fetal medicine.
Hanan E Shamseldin, Wesam Kurdi, Fatima Almusafri, Maha Alnemer, Alya Alkaff, Zeneb Babay, Amal Alhashem, Maha Tulbah, Nada Alsahan, Rubina Khan,[...]. Genet Med 2018
47
15


Molecular autopsy by trio exome sequencing (ES) and postmortem examination in fetuses and neonates with prenatally identified structural anomalies.
Elizabeth Quinlan-Jones, Jenny Lord, Denise Williams, Sue Hamilton, Tamas Marton, Ruth Y Eberhardt, Gabriele Rinck, Elena Prigmore, Rebecca Keelagher, Dominic J McMullan,[...]. Genet Med 2019
19
21

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
134
15

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
842
15

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing.
Robert C Green, Jonathan S Berg, Wayne W Grody, Sarah S Kalia, Bruce R Korf, Christa L Martin, Amy L McGuire, Robert L Nussbaum, Julianne M O'Daniel, Kelly E Ormond,[...]. Genet Med 2013
11



The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions.
Michael J Bamshad, Jay A Shendure, David Valle, Ada Hamosh, James R Lupski, Richard A Gibbs, Eric Boerwinkle, Richard P Lifton, Mark Gerstein, Murat Gunel,[...]. Am J Med Genet A 2012
82
11

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
567
11

An exome sequencing strategy to diagnose lethal autosomal recessive disorders.
Sian Ellard, Emma Kivuva, Peter Turnpenny, Karen Stals, Matthew Johnson, Weijia Xie, Richard Caswell, Hana Lango Allen. Eur J Hum Genet 2015
33
11

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
141
11

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
206
11

Prenatal whole exome sequencing: the views of clinicians, scientists, genetic counsellors and patient representatives.
Elizabeth Quinlan-Jones, Mark D Kilby, Sheila Greenfield, Michael Parker, Dominic McMullan, Matthew E Hurles, Sarah C Hillman. Prenat Diagn 2016
27
11

Prenatal and pre-implantation genetic diagnosis.
Joris Robert Vermeesch, Thierry Voet, Koenraad Devriendt. Nat Rev Genet 2016
73
11

Making new genetic diagnoses with old data: iterative reanalysis and reporting from genome-wide data in 1,133 families with developmental disorders.
Caroline F Wright, Jeremy F McRae, Stephen Clayton, Giuseppe Gallone, Stuart Aitken, Tomas W FitzGerald, Philip Jones, Elena Prigmore, Diana Rajan, Jenny Lord,[...]. Genet Med 2018
128
11

Importance of complete phenotyping in prenatal whole exome sequencing.
Mahmoud Aarabi, Olivia Sniezek, Huaiyang Jiang, Devereux N Saller, Daniel Bellissimo, Svetlana A Yatsenko, Aleksandar Rajkovic. Hum Genet 2018
31
11


Genomic approaches to diagnose rare bone disorders.
Félix Falardeau, Maria Vittoria Camurri, Philippe M Campeau. Bone 2017
9
33

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
11

Fetal exome sequencing: yield and limitations in a tertiary referral center.
H Daum, V Meiner, O Elpeleg, T Harel. Ultrasound Obstet Gynecol 2019
25
12

Whole Exome Sequencing: Applications in Prenatal Genetics.
Angie C Jelin, Neeta Vora. Obstet Gynecol Clin North Am 2018
28
11

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
54
11

Genetic assessment following increased nuchal translucency and normal karyotype.
Eugene Pergament, Christina Alamillo, Katrin Sak, Morris Fiddler. Prenat Diagn 2011
31
7

Increased nuchal translucency in the presence of normal chromosomes: what's next?
Christina M L Alamillo, Morris Fiddler, Eugene Pergament. Curr Opin Obstet Gynecol 2012
15
13

Carrier testing for severe childhood recessive diseases by next-generation sequencing.
Callum J Bell, Darrell L Dinwiddie, Neil A Miller, Shannon L Hateley, Elena E Ganusova, Joann Mudge, Ray J Langley, Lu Zhang, Clarence C Lee, Faye D Schilkey,[...]. Sci Transl Med 2011
431
7

Unlocking Mendelian disease using exome sequencing.
Christian Gilissen, Alexander Hoischen, Han G Brunner, Joris A Veltman. Genome Biol 2011
182
7

Exome sequencing identifies the cause of a mendelian disorder.
Sarah B Ng, Kati J Buckingham, Choli Lee, Abigail W Bigham, Holly K Tabor, Karin M Dent, Chad D Huff, Paul T Shannon, Ethylin Wang Jabs, Deborah A Nickerson,[...]. Nat Genet 2010
7


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.