A citation-based method for searching scientific literature

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, Vrunda Sheth, Jimmy E Woodward, Heather E Peckham, Gary P Schroth, Ryan W Kim, Stephen F Kingsmore. Sci Transl Med 2011
Times Cited: 428







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



Times Cited
  Times     Co-cited
Similarity


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
36


Responsible implementation of expanded carrier screening.
Lidewij Henneman, Pascal Borry, Davit Chokoshvili, Martina C Cornel, Carla G van El, Francesca Forzano, Alison Hall, Heidi C Howard, Sandra Janssens, Hülya Kayserili,[...]. Eur J Hum Genet 2016
116
24

Modeled Fetal Risk of Genetic Diseases Identified by Expanded Carrier Screening.
Imran S Haque, Gabriel A Lazarin, H Peter Kang, Eric A Evans, James D Goldberg, Ronald J Wapner. JAMA 2016
83
20

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
15

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
13


Expanded carrier screening for monogenic disorders: where are we now?
Davit Chokoshvili, Danya Vears, Pascal Borry. Prenat Diagn 2018
40
32

Systematic Classification of Disease Severity for Evaluation of Expanded Carrier Screening Panels.
Gabriel A Lazarin, Felicia Hawthorne, Nicholas S Collins, Elizabeth A Platt, Eric A Evans, Imran S Haque. PLoS One 2014
49
26

ACMG position statement on prenatal/preconception expanded carrier screening.
Wayne W Grody, Barry H Thompson, Anthony R Gregg, Lora H Bean, Kristin G Monaghan, Adele Schneider, Roger V Lebo. Genet Med 2013
165
12



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
11

Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases.
Mirjam Plantinga, Erwin Birnie, Kristin M Abbott, Richard J Sinke, Anneke M Lucassen, Juliette Schuurmans, Seyma Kaplan, Marian A Verkerk, Adelita V Ranchor, Irene M van Langen. Eur J Hum Genet 2016
42
26

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
Gabriel A Lazarin, Imran S Haque, Shivani Nazareth, Kevin Iori, A Scott Patterson, Jessica L Jacobson, John R Marshall, William K Seltzer, Pasquale Patrizio, Eric A Evans,[...]. Genet Med 2013
127
10

The evolving landscape of expanded carrier screening: challenges and opportunities.
Stephanie A Kraft, Devan Duenas, Benjamin S Wilfond, Katrina A B Goddard. Genet Med 2019
29
34

A general framework for estimating the relative pathogenicity of human genetic variants.
Martin Kircher, Daniela M Witten, Preti Jain, Brian J O'Roak, Gregory M Cooper, Jay Shendure. Nat Genet 2014
9

Advantages of expanded universal carrier screening: what is at stake?
Sanne van der Hout, Kim Ca Holtkamp, Lidewij Henneman, Guido de Wert, Wybo J Dondorp. Eur J Hum Genet 2016
25
36

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
783
9

Changing trends in carrier screening for genetic disease in the United States.
Shivani B Nazareth, Gabriel A Lazarin, James D Goldberg. Prenat Diagn 2015
42
21

Clinical Utility of Expanded Carrier Screening: Reproductive Behaviors of At-Risk Couples.
Caroline E Ghiossi, James D Goldberg, Imran S Haque, Gabriel A Lazarin, Kenny K Wong. J Genet Couns 2018
29
31

Reasons for Declining Preconception Expanded Carrier Screening Using Genome Sequencing.
Marian J Gilmore, Jennifer Schneider, James V Davis, Tia L Kauffman, Michael C Leo, Kellene Bergen, Jacob A Reiss, Patricia Himes, Elissa Morris, Carol Young,[...]. J Genet Couns 2017
23
39

Clinical utility of expanded carrier screening: results-guided actionability and outcomes.
Katherine A Johansen Taber, Kyle A Beauchamp, Gabriel A Lazarin, Dale Muzzey, Aishwarya Arjunan, James D Goldberg. Genet Med 2019
25
36

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
8

Guidelines for investigating causality of sequence variants in human disease.
D G MacArthur, T A Manolio, D P Dimmock, H L Rehm, J Shendure, G R Abecasis, D R Adams, R B Altman, S E Antonarakis, E A Ashley,[...]. Nature 2014
765
8

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
8

Comprehensive carrier genetic test using next-generation deoxyribonucleic acid sequencing in infertile couples wishing to conceive through assisted reproductive technology.
Julio Martin, Asan, Yuting Yi, Trinidad Alberola, Beatriz Rodríguez-Iglesias, Jorge Jiménez-Almazán, Qin Li, Huiqian Du, Pilar Alama, Amparo Ruiz,[...]. Fertil Steril 2015
36
22

Expanded carrier screening: A review of early implementation and literature.
Gabriel A Lazarin, Imran S Haque. Semin Perinatol 2016
36
22

Actionable, pathogenic incidental findings in 1,000 participants' exomes.
Michael O Dorschner, Laura M Amendola, Emily H Turner, Peggy D Robertson, Brian H Shirts, Carlos J Gallego, Robin L Bennett, Kelly L Jones, Mari J Tokita, James T Bennett,[...]. Am J Hum Genet 2013
268
8

The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data.
Aaron McKenna, Matthew Hanna, Eric Banks, Andrey Sivachenko, Kristian Cibulskis, Andrew Kernytsky, Kiran Garimella, David Altshuler, Stacey Gabriel, Mark Daly,[...]. Genome Res 2010
8

Validation of an Expanded Carrier Screen that Optimizes Sensitivity via Full-Exon Sequencing and Panel-wide Copy Number Variant Identification.
Gregory J Hogan, Valentina S Vysotskaia, Kyle A Beauchamp, Stefanie Seisenberger, Peter V Grauman, Kevin R Haas, Sun Hae Hong, Diana Jeon, Shera Kash, Henry H Lai,[...]. Clin Chem 2018
29
27

Clinical impact and cost-effectiveness of a 176-condition expanded carrier screen.
Kyle A Beauchamp, Katherine A Johansen Taber, Dale Muzzey. Genet Med 2019
21
38

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
7

Expanded carrier screening in an infertile population: how often is clinical decision making affected?
Jason M Franasiak, Meir Olcha, Paul A Bergh, Kathleen H Hong, Marie D Werner, Eric J Forman, Rebekah S Zimmerman, Richard T Scott. Genet Med 2016
21
33


Finding Middle Ground in Constructing a Clinically Useful Expanded Carrier Screening Panel.
Blair Stevens, Nevena Krstic, Malorie Jones, Lauren Murphy, Jennifer Hoskovec. Obstet Gynecol 2017
25
28

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
7

Systematic design and comparison of expanded carrier screening panels.
Kyle A Beauchamp, Dale Muzzey, Kenny K Wong, Gregory J Hogan, Kambiz Karimi, Sophie I Candille, Nikita Mehta, Rebecca Mar-Heyming, K Eerik Kaseniit, H Peter Kang,[...]. Genet Med 2018
24
29

A universal carrier test for the long tail of Mendelian disease.
Balaji S Srinivasan, Eric A Evans, Jason Flannick, A Scott Patterson, Christopher C Chang, Tuan Pham, Sharon Young, Amit Kaushal, James Lee, Jessica L Jacobson,[...]. Reprod Biomed Online 2010
64
10

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
7

Reproductive genetic carrier screening for cystic fibrosis, fragile X syndrome, and spinal muscular atrophy in Australia: outcomes of 12,000 tests.
Alison Dalton Archibald, Melanie Jane Smith, Trent Burgess, Katrina Louise Scarff, Justine Elliott, Clare Elizabeth Hunt, Zoe McDonald, Caitlin Barns-Jenkins, Chelsea Holt, Karina Sandoval,[...]. Genet Med 2018
42
16

Swedish parents' interest in preconception genetic carrier screening.
Maria Ekstrand Ragnar, Tanja Tydén, Ulrik Kihlbom, Margareta Larsson. Ups J Med Sci 2016
17
41

Deleterious- and disease-allele prevalence in healthy individuals: insights from current predictions, mutation databases, and population-scale resequencing.
Yali Xue, Yuan Chen, Qasim Ayub, Ni Huang, Edward V Ball, Matthew Mort, Andrew D Phillips, Katy Shaw, Peter D Stenson, David N Cooper,[...]. Am J Hum Genet 2012
182
6

Identifying a high fraction of the human genome to be under selective constraint using GERP++.
Eugene V Davydov, David L Goode, Marina Sirota, Gregory M Cooper, Arend Sidow, Serafim Batzoglou. PLoS Comput Biol 2010
839
6


Carrier screening in individuals of Ashkenazi Jewish descent.
Susan J Gross, Beth A Pletcher, Kristin G Monaghan. Genet Med 2008
122
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
783
6

Using high-resolution variant frequencies to empower clinical genome interpretation.
Nicola Whiffin, Eric Minikel, Roddy Walsh, Anne H O'Donnell-Luria, Konrad Karczewski, Alexander Y Ing, Paul J R Barton, Birgit Funke, Stuart A Cook, Daniel MacArthur,[...]. Genet Med 2017
168
6

Factors for successful implementation of population-based expanded carrier screening: learning from existing initiatives.
Kim C A Holtkamp, Inge B Mathijssen, Phillis Lakeman, Merel C van Maarle, Wybo J Dondorp, Lidewij Henneman, Martina C Cornel. Eur J Public Health 2017
22
27


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.