A citation-based method for searching scientific literature

Mohammad K Eldomery, Zeynep Coban-Akdemir, Tamar Harel, Jill A Rosenfeld, Tomasz Gambin, Asbjørg Stray-Pedersen, Sébastien Küry, Sandra Mercier, Davor Lessel, Jonas Denecke, Wojciech Wiszniewski, Samantha Penney, Pengfei Liu, Weimin Bi, Seema R Lalani, Christian P Schaaf, Michael F Wangler, Carlos A Bacino, Richard Alan Lewis, Lorraine Potocki, Brett H Graham, John W Belmont, Fernando Scaglia, Jordan S Orange, Shalini N Jhangiani, Theodore Chiang, Harsha Doddapaneni, Jianhong Hu, Donna M Muzny, Fan Xia, Arthur L Beaudet, Eric Boerwinkle, Christine M Eng, Sharon E Plon, V Reid Sutton, Richard A Gibbs, Jennifer E Posey, Yaping Yang, James R Lupski. Genome Med 2017
Times Cited: 108







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



Times Cited
  Times     Co-cited
Similarity


Prospective comparison of the cost-effectiveness of clinical whole-exome sequencing with that of usual care overwhelmingly supports early use and reimbursement.
Zornitza Stark, Deborah Schofield, Khurshid Alam, William Wilson, Nessie Mupfeki, Ivan Macciocca, Rupendra Shrestha, Susan M White, Clara Gaff. Genet Med 2017
115
5

The Exome Clinic and the role of medical genetics expertise in the interpretation of exome sequencing results.
Dustin Baldridge, Jennifer Heeley, Marisa Vineyard, Linda Manwaring, Tomi L Toler, Emily Fassi, Elise Fiala, Sarah Brown, Charles W Goss, Marcia Willing,[...]. Genet Med 2017
47
10

Unlocking Mendelian disease using exome sequencing.
Christian Gilissen, Alexander Hoischen, Han G Brunner, Joris A Veltman. Genome Biol 2011
183
5

Novel findings with reassessment of exome data: implications for validation testing and interpretation of genomic data.
Kristin McDonald Gibson, Addie Nesbitt, Kajia Cao, Zhenming Yu, Elizabeth Denenberg, Elizabeth DeChene, Qiaoning Guan, Elizabeth Bhoj, Xiangdong Zhou, Bo Zhang,[...]. Genet Med 2018
17
29

Looking beyond the exome: a phenotype-first approach to molecular diagnostic resolution in rare and undiagnosed diseases.
Loren D M Pena, Yong-Hui Jiang, Kelly Schoch, Rebecca C Spillmann, Nicole Walley, Nicholas Stong, Sarah Rapisardo Horn, Jennifer A Sullivan, Allyn McConkie-Rosell, Sujay Kansagra,[...]. Genet Med 2018
26
19

Clinical application of exome sequencing in undiagnosed genetic conditions.
Anna C Need, Vandana Shashi, Yuki Hitomi, Kelly Schoch, Kevin V Shianna, Marie T McDonald, Miriam H Meisler, David B Goldstein. J Med Genet 2012
276
5

Debunking Occam's razor: Diagnosing multiple genetic diseases in families by whole-exome sequencing.
T B Balci, T Hartley, Y Xi, D A Dyment, C L Beaulieu, F P Bernier, L Dupuis, G A Horvath, R Mendoza-Londono, C Prasad,[...]. Clin Genet 2017
53
9

Undiagnosed Diseases Network International (UDNI): White paper for global actions to meet patient needs.
Domenica Taruscio, Stephen C Groft, Helene Cederroth, Béla Melegh, Paul Lasko, Kenjiro Kosaki, Gareth Baynam, Alexa McCray, William A Gahl. Mol Genet Metab 2015
40
12

Monoallelic and Biallelic Variants in EMC1 Identified in Individuals with Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.
Tamar Harel, Gozde Yesil, Yavuz Bayram, Zeynep Coban-Akdemir, Wu-Lin Charng, Ender Karaca, Ali Al Asmari, Mohammad K Eldomery, Jill V Hunter, Shalini N Jhangiani,[...]. Am J Hum Genet 2016
38
13

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
970
5

An Organismal CNV Mutator Phenotype Restricted to Early Human Development.
Pengfei Liu, Bo Yuan, Claudia M B Carvalho, Arthur Wuster, Klaudia Walter, Ling Zhang, Tomasz Gambin, Zechen Chong, Ian M Campbell, Zeynep Coban Akdemir,[...]. Cell 2017
43
11

Complex genomic rearrangements at the PLP1 locus include triplication and quadruplication.
Christine R Beck, Claudia M B Carvalho, Linda Banser, Tomasz Gambin, Danielle Stubbolo, Bo Yuan, Karen Sperle, Suzanne M McCahan, Marco Henneke, Pavel Seeman,[...]. PLoS Genet 2015
41
12

An integrative variant analysis suite for whole exome next-generation sequencing data.
Danny Challis, Jin Yu, Uday S Evani, Andrew R Jackson, Sameer Paithankar, Cristian Coarfa, Aleksandar Milosavljevic, Richard A Gibbs, Fuli Yu. BMC Bioinformatics 2012
200
5


Periodic reanalysis of whole-genome sequencing data enhances the diagnostic advantage over standard clinical genetic testing.
Gregory Costain, Rebekah Jobling, Susan Walker, Miriam S Reuter, Meaghan Snell, Sarah Bowdin, Ronald D Cohn, Lucie Dupuis, Stacy Hewson, Saadet Mercimek-Andrews,[...]. Eur J Hum Genet 2018
41
12

Detection of nonneutral substitution rates on mammalian phylogenies.
Katherine S Pollard, Melissa J Hubisz, Kate R Rosenbloom, Adam Siepel. Genome Res 2010
5

Are whole-exome and whole-genome sequencing approaches cost-effective? A systematic review of the literature.
Katharina Schwarze, James Buchanan, Jenny C Taylor, Sarah Wordsworth. Genet Med 2018
185
5

Improved diagnostics by exome sequencing following raw data reevaluation by clinical geneticists involved in the medical care of the individuals tested.
Lina Basel-Salmon, Naama Orenstein, Keren Markus-Bustani, Noa Ruhrman-Shahar, Yael Kilim, Nurit Magal, Monika Weisz Hubshman, Lily Bazak. Genet Med 2019
28
17

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance.
Davut Pehlivan, Yavuz Bayram, Nilay Gunes, Zeynep Coban Akdemir, Anju Shukla, Tatjana Bierhals, Burcu Tabakci, Yavuz Sahin, Alper Gezdirici, Jawid M Fatih,[...]. Am J Hum Genet 2019
36
13

New insights into the performance of human whole-exome capture platforms.
Janine Meienberg, Katja Zerjavic, Irene Keller, Michal Okoniewski, Andrea Patrignani, Katja Ludin, Zhenyu Xu, Beat Steinmann, Thierry Carrel, Benno Röthlisberger,[...]. Nucleic Acids Res 2015
66
6

Comparison of Exome and Genome Sequencing Technologies for the Complete Capture of Protein-Coding Regions.
Stefan H Lelieveld, Malte Spielmann, Stefan Mundlos, Joris A Veltman, Christian Gilissen. Hum Mutat 2015
87
4

From FastQ data to high confidence variant calls: the Genome Analysis Toolkit best practices pipeline.
Geraldine A Van der Auwera, Mauricio O Carneiro, Christopher Hartl, Ryan Poplin, Guillermo Del Angel, Ami Levy-Moonshine, Tadeusz Jordan, Khalid Shakir, David Roazen, Joel Thibault,[...]. Curr Protoc Bioinformatics 2013
4

Coming of age: ten years of next-generation sequencing technologies.
Sara Goodwin, John D McPherson, W Richard McCombie. Nat Rev Genet 2016
4

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications.
Xiaoyu Chen, Ole Schulz-Trieglaff, Richard Shaw, Bret Barnes, Felix Schlesinger, Morten Källberg, Anthony J Cox, Semyon Kruglyak, Christopher T Saunders. Bioinformatics 2016
498
4

Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations.
Seema R Lalani, Pengfei Liu, Jill A Rosenfeld, Levi B Watkin, Theodore Chiang, Magalie S Leduc, Wenmiao Zhu, Yan Ding, Shujuan Pan, Francesco Vetrini,[...]. Am J Hum Genet 2016
39
10

DNA REPAIR. Mus81 and converging forks limit the mutagenicity of replication fork breakage.
Ryan Mayle, Ian M Campbell, Christine R Beck, Yang Yu, Marenda Wilson, Chad A Shaw, Lotte Bjergbaek, James R Lupski, Grzegorz Ira. Science 2015
123
4


A drosophila genetic resource of mutants to study mechanisms underlying human genetic diseases.
Shinya Yamamoto, Manish Jaiswal, Wu-Lin Charng, Tomasz Gambin, Ender Karaca, Ghayda Mirzaa, Wojciech Wiszniewski, Hector Sandoval, Nele A Haelterman, Bo Xiong,[...]. Cell 2014
193
4

Rare-disease genetics in the era of next-generation sequencing: discovery to translation.
Kym M Boycott, Megan R Vanstone, Dennis E Bulman, Alex E MacKenzie. Nat Rev Genet 2013
425
4

Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research Consortium.
Laura M Amendola, Gail P Jarvik, Michael C Leo, Heather M McLaughlin, Yassmine Akkari, Michelle D Amaral, Jonathan S Berg, Sawona Biswas, Kevin M Bowling, Laura K Conlin,[...]. Am J Hum Genet 2016
237
4

Exome sequencing can improve diagnosis and alter patient management.
Tracy J Dixon-Salazar, Jennifer L Silhavy, Nitin Udpa, Jana Schroth, Stephanie Bielas, Ashleigh E Schaffer, Jesus Olvera, Vineet Bafna, Maha S Zaki, Ghada H Abdel-Salam,[...]. Sci Transl Med 2012
183
4


A survey of current practices for genomic sequencing test interpretation and reporting processes in US laboratories.
Julianne M O'Daniel, Heather M McLaughlin, Laura M Amendola, Sherri J Bale, Jonathan S Berg, David Bick, Kevin M Bowling, Elizabeth C Chao, Wendy K Chung, Laura K Conlin,[...]. Genet Med 2017
48
8

Molecular genetic testing and the future of clinical genomics.
Sara Huston Katsanis, Nicholas Katsanis. Nat Rev Genet 2013
207
4

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
781
4

Disease gene identification strategies for exome sequencing.
Christian Gilissen, Alexander Hoischen, Han G Brunner, Joris A Veltman. Eur J Hum Genet 2012
275
4

Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy.
James R Lupski, Jeffrey G Reid, Claudia Gonzaga-Jauregui, David Rio Deiros, David C Y Chen, Lynne Nazareth, Matthew Bainbridge, Huyen Dinh, Chyn Jing, David A Wheeler,[...]. N Engl J Med 2010
525
4

DECIPHER: database for the interpretation of phenotype-linked plausibly pathogenic sequence and copy-number variation.
Eugene Bragin, Eleni A Chatzimichali, Caroline F Wright, Matthew E Hurles, Helen V Firth, A Paul Bevan, G Jawahar Swaminathan. Nucleic Acids Res 2014
110
4

A novel method for detecting uniparental disomy from trio genotypes identifies a significant excess in children with developmental disorders.
Daniel A King, Tomas W Fitzgerald, Ray Miller, Natalie Canham, Jill Clayton-Smith, Diana Johnson, Sahar Mansour, Fiona Stewart, Pradeep Vasudevan, Matthew E Hurles. Genome Res 2014
35
11

Future of Rare Diseases Research 2017-2027: An IRDiRC Perspective.
Christopher P Austin, Christine M Cutillo, Lilian P L Lau, Anneliene H Jonker, Ana Rath, Daria Julkowska, David Thomson, Sharon F Terry, Béatrice de Montleau, Diego Ardigò,[...]. Clin Transl Sci 2018
68
5

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.
Keith Nykamp, Michael Anderson, Martin Powers, John Garcia, Blanca Herrera, Yuan-Yuan Ho, Yuya Kobayashi, Nila Patil, Janita Thusberg, Marjorie Westbrook,[...]. Genet Med 2017
230
4

Clinical detection of deletion structural variants in whole-genome sequences.
Aaron C Noll, Neil A Miller, Laurie D Smith, Byunggil Yoo, Stephanie Fiedler, Linda D Cooley, Laurel K Willig, Josh E Petrikin, Julie Cakici, John Lesko,[...]. NPJ Genom Med 2016
15
26

A Whole-Genome Analysis Framework for Effective Identification of Pathogenic Regulatory Variants in Mendelian Disease.
Damian Smedley, Max Schubach, Julius O B Jacobsen, Sebastian Köhler, Tomasz Zemojtel, Malte Spielmann, Marten Jäger, Harry Hochheiser, Nicole L Washington, Julie A McMurry,[...]. Am J Hum Genet 2016
100
4


Variant detection sensitivity and biases in whole genome and exome sequencing.
Alison M Meynert, Morad Ansari, David R FitzPatrick, Martin S Taylor. BMC Bioinformatics 2014
126
4

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Fadi F Hamdan, Candace T Myers, Patrick Cossette, Philippe Lemay, Dan Spiegelman, Alexandre Dionne Laporte, Christina Nassif, Ousmane Diallo, Jean Monlong, Maxime Cadieux-Dion,[...]. Am J Hum Genet 2017
176
4


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
75
5

The Human Phenotype Ontology: a tool for annotating and analyzing human hereditary disease.
Peter N Robinson, Sebastian Köhler, Sebastian Bauer, Dominik Seelow, Denise Horn, Stefan Mundlos. Am J Hum Genet 2008
465
4

REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
Nilah M Ioannidis, Joseph H Rothstein, Vikas Pejaver, Sumit Middha, Shannon K McDonnell, Saurabh Baheti, Anthony Musolf, Qing Li, Emily Holzinger, Danielle Karyadi,[...]. Am J Hum Genet 2016
518
4


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.