A citation-based method for searching scientific literature

Lauge Farnaes, Amber Hildreth, Nathaly M Sweeney, Michelle M Clark, Shimul Chowdhury, Shareef Nahas, Julie A Cakici, Wendy Benson, Robert H Kaplan, Richard Kronick, Matthew N Bainbridge, Jennifer Friedman, Jeffrey J Gold, Yan Ding, Narayanan Veeraraghavan, David Dimmock, Stephen F Kingsmore. NPJ Genom Med 2018
Times Cited: 196







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



Times Cited
  Times     Co-cited
Similarity


A clinical utility study of exome sequencing versus conventional genetic testing in pediatric neurology.
Lisenka E L M Vissers, Kirsten J M van Nimwegen, Jolanda H Schieving, Erik-Jan Kamsteeg, Tjitske Kleefstra, Helger G Yntema, Rolph Pfundt, Gert Jan van der Wilt, Lotte Krabbenborg, Han G Brunner,[...]. Genet Med 2017
128
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
715
4

Systematic evidence-based review: outcomes from exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability.
Jennifer Malinowski, David T Miller, Laurie Demmer, Jennifer Gannon, Elaine Maria Pereira, Molly C Schroeder, Maren T Scheuner, Anne Chun-Hui Tsai, Scott E Hickey, Jun Shen. Genet Med 2020
23
17

Mortality in a neonate with molybdenum cofactor deficiency illustrates the need for a comprehensive rapid precision medicine system.
Stephen F Kingsmore, Nanda Ramchandar, Kiely James, Anna-Kaisa Niemi, Annette Feigenbaum, Yan Ding, Wendy Benson, Charlotte Hobbs, Shareef Nahas, Shimul Chowdhury,[...]. Cold Spring Harb Mol Case Stud 2020
10
40

Parents of newborns in the NICU enrolled in genome sequencing research: hopeful, but not naïve.
Courtney Berrios, Catherine Koertje, Janelle Noel-MacDonnell, Sarah Soden, John Lantos. Genet Med 2020
15
26

Truncations of titin causing dilated cardiomyopathy.
Daniel S Herman, Lien Lam, Matthew R G Taylor, Libin Wang, Polakit Teekakirikul, Danos Christodoulou, Lauren Conner, Steven R DePalma, Barbara McDonough, Elizabeth Sparks,[...]. N Engl J Med 2012
821
4

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
640
4

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
710
4

Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Sheng Chih Jin, Jason Homsy, Samir Zaidi, Qiongshi Lu, Sarah Morton, Steven R DePalma, Xue Zeng, Hongjian Qi, Weni Chang, Michael C Sierant,[...]. Nat Genet 2017
370
4

The Human Gene Mutation Database (HGMD®): optimizing its use in a clinical diagnostic or research setting.
Peter D Stenson, Matthew Mort, Edward V Ball, Molly Chapman, Katy Evans, Luisa Azevedo, Matthew Hayden, Sally Heywood, David S Millar, Andrew D Phillips,[...]. Hum Genet 2020
154
4

Next-generation diagnostics and disease-gene discovery with the Exomiser.
Damian Smedley, Julius O B Jacobsen, Marten Jäger, Sebastian Köhler, Manuel Holtgrewe, Max Schubach, Enrico Siragusa, Tomasz Zemojtel, Orion J Buske, Nicole L Washington,[...]. Nat Protoc 2015
151
4

Genomics is failing on diversity.
Alice B Popejoy, Stephanie M Fullerton. Nature 2016
723
4

Phevor combines multiple biomedical ontologies for accurate identification of disease-causing alleles in single individuals and small nuclear families.
Marc V Singleton, Stephen L Guthery, Karl V Voelkerding, Karin Chen, Brett Kennedy, Rebecca L Margraf, Jacob Durtschi, Karen Eilbeck, Martin G Reese, Lynn B Jorde,[...]. Am J Hum Genet 2014
120
4

Exome sequencing in neonates: diagnostic rates, characteristics, and time to diagnosis.
Zöe Powis, Kelly D Farwell Hagman, Virginia Speare, Taylor Cain, Kirsten Blanco, Layla S Mowlavi, Emily M Mayerhofer, David Tilstra, Timothy Vedder, Jesse M Hunter,[...]. Genet Med 2018
22
18

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
Caroline F Wright, Tomas W Fitzgerald, Wendy D Jones, Stephen Clayton, Jeremy F McRae, Margriet van Kogelenberg, Daniel A King, Kirsty Ambridge, Daniel M Barrett, Tanya Bayzetinova,[...]. Lancet 2015
440
4

Integrating Genomics into Healthcare: A Global Responsibility.
Zornitza Stark, Lena Dolman, Teri A Manolio, Brad Ozenberger, Sue L Hill, Mark J Caulfied, Yves Levy, David Glazer, Julia Wilson, Mark Lawler,[...]. Am J Hum Genet 2019
165
4

A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases.
Neil A Miller, Emily G Farrow, Margaret Gibson, Laurel K Willig, Greyson Twist, Byunggil Yoo, Tyler Marrs, Shane Corder, Lisa Krivohlavek, Adam Walter,[...]. Genome Med 2015
141
4


Deaths in a neonatal intensive care unit: a 10-year perspective.
Cathrine Monrad Hagen, Thor Willy Ruud Hansen. Pediatr Crit Care Med 2004
48
8

The Genetic Basis of Mendelian Phenotypes: Discoveries, Challenges, and Opportunities.
Jessica X Chong, Kati J Buckingham, Shalini N Jhangiani, Corinne Boehm, Nara Sobreira, Joshua D Smith, Tanya M Harrell, Margaret J McMillin, Wojciech Wiszniewski, Tomasz Gambin,[...]. Am J Hum Genet 2015
393
4


Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants.
Huijun Wang, Yanyan Qian, Yulan Lu, Qian Qin, Guoping Lu, Guoqiang Cheng, Ping Zhang, Lin Yang, Bingbing Wu, Wenhao Zhou. NPJ Genom Med 2020
6
66

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses.
Kiely N James, Michelle M Clark, Brandon Camp, Cyrielle Kint, Peter Schols, Sergey Batalov, Benjamin Briggs, Narayanan Veeraraghavan, Shimul Chowdhury, Stephen F Kingsmore. NPJ Genom Med 2020
16
25

Improving genetic diagnosis in Mendelian disease with transcriptome sequencing.
Beryl B Cummings, Jamie L Marshall, Taru Tukiainen, Monkol Lek, Sandra Donkervoort, A Reghan Foley, Veronique Bolduc, Leigh B Waddell, Sarah A Sandaradura, Gina L O'Grady,[...]. Sci Transl Med 2017
347
4

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.
Aurélie Bourchany, Christel Thauvin-Robinet, Daphné Lehalle, Ange-Line Bruel, Alice Masurel-Paulet, Nolwenn Jean, Sophie Nambot, Marjorie Willems, Laetitia Lambert, Salima El Chehadeh-Djebbar,[...]. Eur J Med Genet 2017
17
23

Intersociety policy statement on the use of whole-exome sequencing in the critically ill newborn infant.
Alessandro Borghesi, Maria Antonietta Mencarelli, Luigi Memo, Giovanni Battista Ferrero, Andrea Bartuli, Maurizio Genuardi, Mauro Stronati, Alberto Villani, Alessandra Renieri, Giovanni Corsello. Ital J Pediatr 2017
32
12

Genetic aetiology of early infant deaths in a neonatal intensive care unit.
Lin Yang, Xu Liu, Zixiu Li, Peng Zhang, Bingbing Wu, Huijun Wang, Liyuan Hu, Guoqiang Cheng, Laishuan Wang, Wenhao Zhou. J Med Genet 2020
14
28

CADD: predicting the deleteriousness of variants throughout the human genome.
Philipp Rentzsch, Daniela Witten, Gregory M Cooper, Jay Shendure, Martin Kircher. Nucleic Acids Res 2019
4

Diagnostic and service impact of genomic testing technologies in a neonatal intensive care unit.
Natalie B Tan, Tiong Yang Tan, Melissa M Martyn, Ravi Savarirayan, David J Amor, Amanda Moody, Susan M White, Zornitza Stark. J Paediatr Child Health 2019
9
44

Whole-exome sequencing in intellectual disability; cost before and after a diagnosis.
Terry Vrijenhoek, Eline M Middelburg, Glen R Monroe, Koen L I van Gassen, Joost W Geenen, Anke M Hövels, Nine V Knoers, Hans Kristian Ploos van Amstel, Gerardus W J Frederix. Eur J Hum Genet 2018
34
11

Rapid acute care genomics: Challenges and opportunities for genetic counselors.
Fiona Lynch, Amy Nisselle, Clara L Gaff, Belinda McClaren. J Genet Couns 2021
8
50

The burden of rare diseases.
Carlos R Ferreira. Am J Med Genet A 2019
100
4

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database.
Stéphanie Nguengang Wakap, Deborah M Lambert, Annie Olry, Charlotte Rodwell, Charlotte Gueydan, Valérie Lanneau, Daniel Murphy, Yann Le Cam, Ana Rath. Eur J Hum Genet 2020
303
4


Estimating the burden and economic impact of pediatric genetic disease.
Nina Gonzaludo, John W Belmont, Vladimir G Gainullin, Ryan J Taft. Genet Med 2019
29
13

Learning from scaling up ultra-rapid genomic testing for critically ill children to a national level.
Stephanie Best, Helen Brown, Sebastian Lunke, Chirag Patel, Jason Pinner, Christopher P Barnett, Meredith Wilson, Sarah A Sandaradura, Belinda McClaren, Gemma R Brett,[...]. NPJ Genom Med 2021
9
44

Rapid exome sequencing as the first-tier investigation for diagnosis of acutely and severely ill children and adults in Thailand.
Wuttichart Kamolvisit, Prasit Phowthongkum, Ponghatai Boonsimma, Chulaluck Kuptanon, Kitiwan Rojnueangnit, Duangrurdee Wattanasirichaigoon, Mongkol Chanvanichtrakool, Chutima Phuaksaman, Pattara Wiromrat, Chalurmpon Srichomthong,[...]. Clin Genet 2021
7
57

The cost trajectory of the diagnostic care pathway for children with suspected genetic disorders.
Nick Dragojlovic, Clara D M van Karnebeek, Aisha Ghani, Dallas Genereaux, Ellen Kim, Patricia Birch, Alison M Elliott, Jan M Friedman, Larry D Lynd. Genet Med 2020
20
20

Ultrarapid Nanopore Genome Sequencing in a Critical Care Setting.
John E Gorzynski, Sneha D Goenka, Kishwar Shafin, Tanner D Jensen, Dianna G Fisk, Megan E Grove, Elizabeth Spiteri, Trevor Pesout, Jean Monlong, Gunjan Baid,[...]. N Engl J Med 2022
26
15

ACMG SF v3.0 list for reporting of secondary findings in clinical exome and genome sequencing: a policy statement of the American College of Medical Genetics and Genomics (ACMG).
David T Miller, Kristy Lee, Wendy K Chung, Adam S Gordon, Gail E Herman, Teri E Klein, Douglas R Stewart, Laura M Amendola, Kathy Adelman, Sherri J Bale,[...]. Genet Med 2021
143
4

100,000 Genomes Pilot on Rare-Disease Diagnosis in Health Care - Preliminary Report.
Damian Smedley, Katherine R Smith, Antonio Martin, Ellen A Thomas, Ellen M McDonagh, Valentina Cipriani, Jamie M Ellingford, Gavin Arno, Arianna Tucci, Jana Vandrovcova,[...]. N Engl J Med 2021
92
4

Returning a Genomic Result for an Adult-Onset Condition to the Parents of a Newborn: Insights From the BabySeq Project.
Ingrid A Holm, Amy McGuire, Stacey Pereira, Heidi Rehm, Robert C Green, Alan H Beggs. Pediatrics 2019
27
11

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
3

The complete costs of genome sequencing: a microcosting study in cancer and rare diseases from a single center in the United Kingdom.
Katharina Schwarze, James Buchanan, Jilles M Fermont, Helene Dreau, Mark W Tilley, John M Taylor, Pavlos Antoniou, Samantha J L Knight, Carme Camps, Melissa M Pentony,[...]. Genet Med 2020
64
4

Clinical exome sequencing: results from 2819 samples reflecting 1000 families.
Daniel Trujillano, Aida M Bertoli-Avella, Krishna Kumar Kandaswamy, Maximilian Er Weiss, Julia Köster, Anett Marais, Omid Paknia, Rolf Schröder, Jose Maria Garcia-Aznar, Martin Werber,[...]. Eur J Hum Genet 2017
204
3

Whole genome sequencing reveals novel IGHMBP2 variant leading to unique cryptic splice-site and Charcot-Marie-Tooth phenotype with early onset symptoms.
Thomas A Cassini, Laura Duncan, Lynette C Rives, John H Newman, John A Phillips, Mary E Koziura, Jennifer Brault, Rizwan Hamid, Joy Cogan. Mol Genet Genomic Med 2019
14
21

Copy-number variants in clinical genome sequencing: deployment and interpretation for rare and undiagnosed disease.
Andrew M Gross, Subramanian S Ajay, Vani Rajan, Carolyn Brown, Krista Bluske, Nicole J Burns, Aditi Chawla, Alison J Coffey, Alka Malhotra, Alicia Scocchia,[...]. Genet Med 2019
54
5

HGVS Recommendations for the Description of Sequence Variants: 2016 Update.
Johan T den Dunnen, Raymond Dalgleish, Donna R Maglott, Reece K Hart, Marc S Greenblatt, Jean McGowan-Jordan, Anne-Francoise Roux, Timothy Smith, Stylianos E Antonarakis, Peter E M Taschner. Hum Mutat 2016
809
3

Parents' experiences of receiving their child's genetic diagnosis: a qualitative study to inform clinical genetics practice.
Setareh Ashtiani, Nancy Makela, Prescilla Carrion, Jehannine Austin. Am J Med Genet A 2014
33
9

Meta-analysis and multidisciplinary consensus statement: exome sequencing is a first-tier clinical diagnostic test for individuals with neurodevelopmental disorders.
Siddharth Srivastava, Jamie A Love-Nichols, Kira A Dies, David H Ledbetter, Christa L Martin, Wendy K Chung, Helen V Firth, Thomas Frazier, Robin L Hansen, Lisa Prock,[...]. Genet Med 2019
193
3


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.