A citation-based method for searching scientific literature

Jasmine L F Fung, Mullin H C Yu, Shushu Huang, Claudia C Y Chung, Marcus C Y Chan, Sander Pajusalu, Christopher C Y Mak, Vivian C C Hui, Mandy H Y Tsang, Kit San Yeung, Monkol Lek, Brian H Y Chung. NPJ Genom Med 2020
Times Cited: 9







List of co-cited articles
39 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
55

Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers.
Aaron M Wenger, Harendra Guturu, Jonathan A Bernstein, Gill Bejerano. Genet Med 2017
140
44

Reanalysis of Clinical Exome Sequencing Data.
Pengfei Liu, Linyan Meng, Elizabeth A Normand, Fan Xia, Xiaofei Song, Andrew Ghazi, Jill Rosenfeld, Pilar L Magoulas, Alicia Braxton, Patricia Ward,[...]. N Engl J Med 2019
72
44

Patient re-contact after revision of genomic test results: points to consider-a statement of the American College of Medical Genetics and Genomics (ACMG).
Karen L David, Robert G Best, Leslie Manace Brenman, Lynn Bush, Joshua L Deignan, David Flannery, Jodi D Hoffman, Ingrid Holm, David T Miller, James O'Leary,[...]. Genet Med 2019
46
33

The mutational constraint spectrum quantified from variation in 141,456 humans.
Konrad J Karczewski, Laurent C Francioli, Grace Tiao, Beryl B Cummings, Jessica Alföldi, Qingbo Wang, Ryan L Collins, Kristen M Laricchia, Andrea Ganna, Daniel P Birnbaum,[...]. Nature 2020
33

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
125
33

Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen).
Erin Rooney Riggs, Erica F Andersen, Athena M Cherry, Sibel Kantarci, Hutton Kearney, Ankita Patel, Gordana Raca, Deborah I Ritter, Sarah T South, Erik C Thorland,[...]. Genet Med 2020
194
33

Duty to re-contact.
K Hirschhorn, L D Fleisher, L Godmilow, R R Howell, R R Lebel, E R McCabe, M J McGinniss, A Milunsky, M Z Pelias, R E Pyeritz,[...]. Genet Med 1999
35
22

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
22

Physicians' perspectives on the uncertainties and implications of chromosomal microarray testing of children and families.
M Reiff, K Ross, S Mulchandani, K J Propert, R E Pyeritz, N B Spinner, B A Bernhardt. Clin Genet 2013
44
22

"What does it mean?": uncertainties in understanding results of chromosomal microarray testing.
Marian Reiff, Barbara A Bernhardt, Surabhi Mulchandani, Danielle Soucier, Diana Cornell, Reed E Pyeritz, Nancy B Spinner. Genet Med 2012
76
22

An evidence-based approach to establish the functional and clinical significance of copy number variants in intellectual and developmental disabilities.
Erin B Kaminsky, Vineith Kaul, Justin Paschall, Deanna M Church, Brian Bunke, Dawn Kunig, Daniel Moreno-De-Luca, Andres Moreno-De-Luca, Jennifer G Mulle, Stephen T Warren,[...]. Genet Med 2011
290
22

GeneMatcher: a matching tool for connecting investigators with an interest in the same gene.
Nara Sobreira, François Schiettecatte, David Valle, Ada Hamosh. Hum Mutat 2015
612
22

Unique bioinformatic approach and comprehensive reanalysis improve diagnostic yield of clinical exomes.
Klaus Schmitz-Abe, Qifei Li, Samantha M Rosen, Neeharika Nori, Jill A Madden, Casie A Genetti, Monica H Wojcik, Sadhana Ponnaluri, Cynthia S Gubbels, Jonathan D Picker,[...]. Eur J Hum Genet 2019
22
22

A robust model for read count data in exome sequencing experiments and implications for copy number variant calling.
Vincent Plagnol, James Curtis, Michael Epstein, Kin Y Mok, Emma Stebbings, Sofia Grigoriadou, Nicholas W Wood, Sophie Hambleton, Siobhan O Burns, Adrian J Thrasher,[...]. Bioinformatics 2012
309
22

Genetic studies in intellectual disability and related disorders.
Lisenka E L M Vissers, Christian Gilissen, Joris A Veltman. Nat Rev Genet 2016
328
22

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
641
22

Developmental brain dysfunction: revival and expansion of old concepts based on new genetic evidence.
Andres Moreno-De-Luca, Scott M Myers, Thomas D Challman, Daniel Moreno-De-Luca, David W Evans, David H Ledbetter. Lancet Neurol 2013
178
22

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
22

Evaluating the Clinical Validity of Gene-Disease Associations: An Evidence-Based Framework Developed by the Clinical Genome Resource.
Natasha T Strande, Erin Rooney Riggs, Adam H Buchanan, Ozge Ceyhan-Birsoy, Marina DiStefano, Selina S Dwight, Jenny Goldstein, Rajarshi Ghosh, Bryce A Seifert, Tam P Sneddon,[...]. Am J Hum Genet 2017
191
22

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
22

Clinical application of whole-exome sequencing across clinical indications.
Kyle Retterer, Jane Juusola, Megan T Cho, Patrik Vitazka, Francisca Millan, Federica Gibellini, Annette Vertino-Bell, Nizar Smaoui, Julie Neidich, Kristin G Monaghan,[...]. Genet Med 2016
458
22

Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.
Kyle Retterer, Julie Scuffins, Daniel Schmidt, Rachel Lewis, Daniel Pineda-Alvarez, Amanda Stafford, Lindsay Schmidt, Stephanie Warren, Federica Gibellini, Anastasia Kondakova,[...]. Genet Med 2015
76
22


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
22

Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders.
Oliver James Dillon, Sebastian Lunke, Zornitza Stark, Alison Yeung, Natalie Thorne, Clara Gaff, Susan M White, Tiong Yang Tan. Eur J Hum Genet 2018
51
22

Increasing the diagnostic yield of exome sequencing by copy number variant analysis.
Daniel S Marchuk, Kristy Crooks, Natasha Strande, Kathleen Kaiser-Rogers, Laura V Milko, Alicia Brandt, Alexandra Arreola, Christian R Tilley, Chris Bizon, Neeta L Vora,[...]. PLoS One 2018
26
22

Exome sequencing covers >98% of mutations identified on targeted next generation sequencing panels.
Holly LaDuca, Kelly D Farwell, Huy Vuong, Hsiao-Mei Lu, Wenbo Mu, Layla Shahmirzadi, Sha Tang, Jefferey Chen, Shruti Bhide, Elizabeth C Chao. PLoS One 2017
49
22


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
31
22

Whole-exome sequencing reanalysis at 12 months boosts diagnosis and is cost-effective when applied early in Mendelian disorders.
Lisa J Ewans, Deborah Schofield, Rupendra Shrestha, Ying Zhu, Velimir Gayevskiy, Kevin Ying, Corrina Walsh, Eric Lee, Edwin P Kirk, Alison Colley,[...]. Genet Med 2018
59
22

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
22

Reanalysis of exome sequencing data of intellectual disability samples: Yields and benefits.
Maryam Al-Nabhani, Samiya Al-Rashdi, Fathiya Al-Murshedi, Adila Al-Kindi, Khalid Al-Thihli, Abeer Al-Saegh, Amna Al-Futaisi, Watfa Al-Mamari, Fahad Zadjali, Almundher Al-Maawali. Clin Genet 2018
27
22

Meta-analysis of the diagnostic and clinical utility of genome and exome sequencing and chromosomal microarray in children with suspected genetic diseases.
Michelle M Clark, Zornitza Stark, Lauge Farnaes, Tiong Y Tan, Susan M White, David Dimmock, Stephen F Kingsmore. NPJ Genom Med 2018
174
22

Effectiveness of whole-exome sequencing and costs of the traditional diagnostic trajectory in children with intellectual disability.
Glen R Monroe, Gerardus W Frederix, Sanne M C Savelberg, Tamar I de Vries, Karen J Duran, Jasper J van der Smagt, Paulien A Terhal, Peter M van Hasselt, Hester Y Kroes, Nanda M Verhoeven-Duif,[...]. Genet Med 2016
104
22

International Cooperation to Enable the Diagnosis of All Rare Genetic Diseases.
Kym M Boycott, Ana Rath, Jessica X Chong, Taila Hartley, Fowzan S Alkuraya, Gareth Baynam, Anthony J Brookes, Michael Brudno, Angel Carracedo, Johan T den Dunnen,[...]. Am J Hum Genet 2017
156
22

The added value of WES reanalysis in the field of genetic diagnosis: lessons learned from 200 exomes in the Lebanese population.
Nadine Jalkh, Sandra Corbani, Zahraa Haidar, Nadine Hamdan, Elias Farah, Joelle Abou Ghoch, Rouba Ghosn, Nabiha Salem, Ali Fawaz, Claudia Djambas Khayat,[...]. BMC Med Genomics 2019
16
22

Evaluating systematic reanalysis of clinical genomic data in rare disease from single center experience and literature review.
Natalie B Tan, Rachel Stapleton, Zornitza Stark, Martin B Delatycki, Alison Yeung, Matthew F Hunter, David J Amor, Natasha J Brown, Chloe A Stutterd, George McGillivray,[...]. Mol Genet Genomic Med 2020
6
33

Enhanced utility of family-centered diagnostic exome sequencing with inheritance model-based analysis: results from 500 unselected families with undiagnosed genetic conditions.
Kelly D Farwell, Layla Shahmirzadi, Dima El-Khechen, Zöe Powis, Elizabeth C Chao, Brigette Tippin Davis, Ruth M Baxter, Wenqi Zeng, Cameron Mroske, Melissa C Parra,[...]. Genet Med 2015
292
22

Genetic variation and the de novo assembly of human genomes.
Mark J P Chaisson, Richard K Wilson, Evan E Eichler. Nat Rev Genet 2015
171
11

Uncertainty and perceived personal control among parents of children with rare chromosome conditions: the role of genetic counseling.
Shawn E Lipinski, Michael J Lipinski, Leslie G Biesecker, Barbara B Biesecker. Am J Med Genet C Semin Med Genet 2006
48
11

The role of hope in adaptation to uncertainty: the experience of caregivers of children with Down syndrome.
Megan Truitt, Barbara Biesecker, George Capone, Thomas Bailey, Lori Erby. Patient Educ Couns 2012
32
11

FBN1 Coding Variants and Nonsyndromic Aortic Disease.
Scott M Damrauer, Kara Hardie, Rachel L Kember, Renae Judy, David Birtwell, Heather Williams, Daniel J Rader, Reed E Pyeritz. Circ Genom Precis Med 2019
2
50

Personalized medicine and genetic malpractice.
Gary E Marchant, Rachel A Lindor. Genet Med 2013
14
11



Finding Fault? Exploring Legal Duties to Return Incidental Findings in Genomic Research.
Elizabeth R Pike, Karen H Rothenberg, Benjamin E Berkman. Georgetown Law J 2014
14
11

CORRIGENDUM: 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 2017
21
11

Factors associated with perceived uncertainty among parents of children with undiagnosed medical conditions.
Anne C Madeo, Kathleen E O'Brien, Barbara A Bernhardt, Barbara B Biesecker. Am J Med Genet A 2012
39
11



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.