A citation-based method for searching scientific literature

Holly K Tabor, Paul L Auer, Seema M Jamal, Jessica X Chong, Joon-Ho Yu, Adam S Gordon, Timothy A Graubert, Christopher J O'Donnell, Stephen S Rich, Deborah A Nickerson, Michael J Bamshad. Am J Hum Genet 2014
Times Cited: 64







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



Times Cited
  Times     Co-cited
Similarity


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
37

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
32

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
31

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
23

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
21

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
767
20

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
792
20

Actionable exomic incidental findings in 6503 participants: challenges of variant classification.
Laura M Amendola, Michael O Dorschner, Peggy D Robertson, Joseph S Salama, Ragan Hart, Brian H Shirts, Mitzi L Murray, Mari J Tokita, Carlos J Gallego, Daniel Seung Kim,[...]. Genome Res 2015
215
20

Evolution and functional impact of rare coding variation from deep sequencing of human exomes.
Jacob A Tennessen, Abigail W Bigham, Timothy D O'Connor, Wenqing Fu, Eimear E Kenny, Simon Gravel, Sean McGee, Ron Do, Xiaoming Liu, Goo Jun,[...]. Science 2012
18

Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants.
Wenqing Fu, Timothy D O'Connor, Goo Jun, Hyun Min Kang, Goncalo Abecasis, Suzanne M Leal, Stacey Gabriel, Mark J Rieder, David Altshuler, Jay Shendure,[...]. Nature 2013
612
17

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
430
17

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
17

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
17

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
799
17

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
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
14

Return of genomic results to research participants: the floor, the ceiling, and the choices in between.
Gail P Jarvik, Laura M Amendola, Jonathan S Berg, Kyle Brothers, Ellen W Clayton, Wendy Chung, Barbara J Evans, James P Evans, Stephanie M Fullerton, Carlos J Gallego,[...]. Am J Hum Genet 2014
235
14


A systematic survey of loss-of-function variants in human protein-coding genes.
Daniel G MacArthur, Suganthi Balasubramanian, Adam Frankish, Ni Huang, James Morris, Klaudia Walter, Luke Jostins, Lukas Habegger, Joseph K Pickrell, Stephen B Montgomery,[...]. Science 2012
751
12

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
558
12

ACMG recommendations for standards for interpretation and reporting of sequence variations: Revisions 2007.
C Sue Richards, Sherri Bale, Daniel B Bellissimo, Soma Das, Wayne W Grody, Madhuri R Hegde, Elaine Lyon, Brian E Ward. Genet Med 2008
517
10

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
619
10

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
961
10

Exome sequencing as a tool for Mendelian disease gene discovery.
Michael J Bamshad, Sarah B Ng, Abigail W Bigham, Holly K Tabor, Mary J Emond, Deborah A Nickerson, Jay Shendure. Nat Rev Genet 2011
10

An integrated map of genetic variation from 1,092 human genomes.
Goncalo R Abecasis, Adam Auton, Lisa D Brooks, Mark A DePristo, Richard M Durbin, Robert E Handsaker, Hyun Min Kang, Gabor T Marth, Gil A McVean. Nature 2012
10

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
10

Attitudes of genetics professionals toward the return of incidental results from exome and whole-genome sequencing.
Joon-Ho Yu, Tanya M Harrell, Seema M Jamal, Holly K Tabor, Michael J Bamshad. Am J Hum Genet 2014
86
9


Secondary variants in individuals undergoing exome sequencing: screening of 572 individuals identifies high-penetrance mutations in cancer-susceptibility genes.
Jennifer J Johnston, Wendy S Rubinstein, Flavia M Facio, David Ng, Larry N Singh, Jamie K Teer, James C Mullikin, Leslie G Biesecker. Am J Hum Genet 2012
159
9

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
9

A new initiative on precision medicine.
Francis S Collins, Harold Varmus. N Engl J Med 2015
9

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
482
9

Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics.
Julie Jurgens, Hua Ling, Kurt Hetrick, Elizabeth Pugh, Francois Schiettecatte, Kimberly Doheny, Ada Hamosh, Dimitri Avramopoulos, David Valle, Nara Sobreira. Genet Med 2015
30
20

Clinical interpretation and implications of whole-genome sequencing.
Frederick E Dewey, Megan E Grove, Cuiping Pan, Benjamin A Goldstein, Jonathan A Bernstein, Hassan Chaib, Jason D Merker, Rachel L Goldfeder, Gregory M Enns, Sean P David,[...]. JAMA 2014
285
7

Diagnostic clinical genome and exome sequencing.
Leslie G Biesecker, Robert C Green. N Engl J Med 2014
340
7

A map of human genome variation from population-scale sequencing.
Gonçalo R Abecasis, David Altshuler, Adam Auton, Lisa D Brooks, Richard M Durbin, Richard A Gibbs, Matt E Hurles, Gil A McVean. Nature 2010
7


Proportionally more deleterious genetic variation in European than in African populations.
Kirk E Lohmueller, Amit R Indap, Steffen Schmidt, Adam R Boyko, Ryan D Hernandez, Melissa J Hubisz, John J Sninsky, Thomas J White, Shamil R Sunyaev, Rasmus Nielsen,[...]. Nature 2008
252
7

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
131
7


Human Gene Mutation Database (HGMD): 2003 update.
Peter D Stenson, Edward V Ball, Matthew Mort, Andrew D Phillips, Jacqueline A Shiel, Nick S T Thomas, Shaun Abeysinghe, Michael Krawczak, David N Cooper. Hum Mutat 2003
7

ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data.
Kai Wang, Mingyao Li, Hakon Hakonarson. Nucleic Acids Res 2010
7

Utilizing ethnic-specific differences in minor allele frequency to recategorize reported pathogenic deafness variants.
A Eliot Shearer, Robert W Eppsteiner, Kevin T Booth, Sean S Ephraim, José Gurrola, Allen Simpson, E Ann Black-Ziegelbein, Swati Joshi, Harini Ravi, Angelica C Giuffre,[...]. Am J Hum Genet 2014
97
7

A systematic approach to assessing the clinical significance of genetic variants.
H Duzkale, J Shen, H McLaughlin, A Alfares, M A Kelly, T J Pugh, B H Funke, H L Rehm, M S Lebo. Clin Genet 2013
106
6

DNA sequencing with chain-terminating inhibitors.
F Sanger, S Nicklen, A R Coulson. Proc Natl Acad Sci U S A 1977
6

Challenges in the clinical application of whole-genome sequencing.
Kelly E Ormond, Matthew T Wheeler, Louanne Hudgins, Teri E Klein, Atul J Butte, Russ B Altman, Euan A Ashley, Henry T Greely. Lancet 2010
151
6

Implementing genomic medicine in the clinic: the future is here.
Teri A Manolio, Rex L Chisholm, Brad Ozenberger, Dan M Roden, Marc S Williams, Richard Wilson, David Bick, Erwin P Bottinger, Murray H Brilliant, Charis Eng,[...]. Genet Med 2013
331
6


Initial sequencing and analysis of the human genome.
E S Lander, L M Linton, B Birren, C Nusbaum, M C Zody, J Baldwin, K Devon, K Dewar, M Doyle, W FitzHugh,[...]. Nature 2001
6

The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.
Lauren Lawrence, Murat Sincan, Thomas Markello, David R Adams, Fred Gill, Rena Godfrey, Gretchen Golas, Catherine Groden, Dennis Landis, Michele Nehrebecky,[...]. Genet Med 2014
40
10


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.