A citation-based method for searching scientific literature

Diane B Zastrow, Heather Baudet, Wei Shen, Amanda Thomas, Yue Si, Meredith A Weaver, Angela M Lager, Jixia Liu, Rachel Mangels, Selina S Dwight, Matt W Wright, Steven F Dobrowolski, Karen Eilbeck, Gregory M Enns, Annette Feigenbaum, Uta Lichter-Konecki, Elaine Lyon, Marzia Pasquali, Michael Watson, Nenad Blau, Robert D Steiner, William J Craigen, Rong Mao. Hum Mutat 2018
Times Cited: 24







List of co-cited articles
69 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
87

ClinGen's RASopathy Expert Panel consensus methods for variant interpretation.
Bruce D Gelb, Hélène Cavé, Mitchell W Dillon, Karen W Gripp, Jennifer A Lee, Heather Mason-Suares, Katherine A Rauen, Bradley Williams, Martin Zenker, Lisa M Vincent. Genet Med 2018
77
58

Adaptation and validation of the ACMG/AMP variant classification framework for MYH7-associated inherited cardiomyopathies: recommendations by ClinGen's Inherited Cardiomyopathy Expert Panel.
Melissa A Kelly, Colleen Caleshu, Ana Morales, Jillian Buchan, Zena Wolf, Steven M Harrison, Stuart Cook, Mitchell W Dillon, John Garcia, Eden Haverfield,[...]. Genet Med 2018
160
50

Recommendations for interpreting the loss of function PVS1 ACMG/AMP variant criterion.
Ahmad N Abou Tayoun, Tina Pesaran, Marina T DiStefano, Andrea Oza, Heidi L Rehm, Leslie G Biesecker, Steven M Harrison. Hum Mutat 2018
211
50

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel.
Jessica L Mester, Rajarshi Ghosh, Tina Pesaran, Robert Huether, Rachid Karam, Kathleen S Hruska, Helio A Costa, Katherine Lachlan, Joanne Ngeow, Jill Barnholtz-Sloan,[...]. Hum Mutat 2018
66
50

Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variants.
Kristy Lee, Kate Krempely, Maegan E Roberts, Michael J Anderson, Fatima Carneiro, Elizabeth Chao, Katherine Dixon, Joana Figueiredo, Rajarshi Ghosh, David Huntsman,[...]. Hum Mutat 2018
69
50

Expert specification of the ACMG/AMP variant interpretation guidelines for genetic hearing loss.
Andrea M Oza, Marina T DiStefano, Sarah E Hemphill, Brandon J Cushman, Andrew R Grant, Rebecca K Siegert, Jun Shen, Alex Chapin, Nicole J Boczek, Lisa A Schimmenti,[...]. Hum Mutat 2018
162
50

Updated recommendation for the benign stand-alone ACMG/AMP criterion.
Rajarshi Ghosh, Steven M Harrison, Heidi L Rehm, Sharon E Plon, Leslie G Biesecker. Hum Mutat 2018
41
33

ClinGen Variant Curation Expert Panel experiences and standardized processes for disease and gene-level specification of the ACMG/AMP guidelines for sequence variant interpretation.
Edgar A Rivera-Muñoz, Laura V Milko, Steven M Harrison, Danielle R Azzariti, C Lisa Kurtz, Kristy Lee, Jessica L Mester, Meredith A Weaver, Erin Currey, William Craigen,[...]. Hum Mutat 2018
72
33

Modeling the ACMG/AMP variant classification guidelines as a Bayesian classification framework.
Sean V Tavtigian, Marc S Greenblatt, Steven M Harrison, Robert L Nussbaum, Snehit A Prabhu, Kenneth M Boucher, Leslie G Biesecker. Genet Med 2018
156
33

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
264
29


Clinical laboratories collaborate to resolve differences in variant interpretations submitted to ClinVar.
Steven M Harrison, Jill S Dolinsky, Amy E Knight Johnson, Tina Pesaran, Danielle R Azzariti, Sherri Bale, Elizabeth C Chao, Soma Das, Lisa Vincent, Heidi L Rehm. Genet Med 2017
135
25

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
573
20

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
296
20

Sources of discordance among germ-line variant classifications in ClinVar.
Shan Yang, Stephen E Lincoln, Yuya Kobayashi, Keith Nykamp, Robert L Nussbaum, Scott Topper. Genet Med 2017
56
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
20

Recommendations for application of the functional evidence PS3/BS3 criterion using the ACMG/AMP sequence variant interpretation framework.
Sarah E Brnich, Ahmad N Abou Tayoun, Fergus J Couch, Garry R Cutting, Marc S Greenblatt, Christopher D Heinen, Dona M Kanavy, Xi Luo, Shannon M McNulty, Lea M Starita,[...]. Genome Med 2019
124
20

ClinGen Myeloid Malignancy Variant Curation Expert Panel recommendations for germline RUNX1 variants.
Xi Luo, Simone Feurstein, Shruthi Mohan, Christopher C Porter, Sarah A Jackson, Sioban Keel, Michael Chicka, Anna L Brown, Chimene Kesserwan, Anupriya Agarwal,[...]. Blood Adv 2019
52
20

Reassessment of Genomic Sequence Variation to Harmonize Interpretation for Personalized Medicine.
Kathryn B Garber, Lisa M Vincent, John J Alexander, Lora J H Bean, Sherri Bale, Madhuri Hegde. Am J Hum Genet 2016
39
16


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
746
16

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
205
16

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
667
16

Navigating the nuances of clinical sequence variant interpretation in Mendelian disease.
Natasha T Strande, Sarah E Brnich, Tamara S Roman, Jonathan S Berg. Genet Med 2018
26
12

A survey assessing adoption of the ACMG-AMP guidelines for interpreting sequence variants and identification of areas for continued improvement.
Annie Niehaus, Danielle R Azzariti, Steven M Harrison, Marina T DiStefano, Sarah E Hemphill, Ozlem Senol-Cosar, Heidi L Rehm. Genet Med 2019
14
21


In silico prediction of splice-altering single nucleotide variants in the human genome.
Xueqiu Jian, Eric Boerwinkle, Xiaoming Liu. Nucleic Acids Res 2014
238
12

Predicting Splicing from Primary Sequence with Deep Learning.
Kishore Jaganathan, Sofia Kyriazopoulou Panagiotopoulou, Jeremy F McRae, Siavash Fazel Darbandi, David Knowles, Yang I Li, Jack A Kosmicki, Juan Arbelaez, Wenwu Cui, Grace B Schwartz,[...]. Cell 2019
452
12


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
287
12

The BabySeq project: implementing genomic sequencing in newborns.
Ingrid A Holm, Pankaj B Agrawal, Ozge Ceyhan-Birsoy, Kurt D Christensen, Shawn Fayer, Leslie A Frankel, Casie A Genetti, Joel B Krier, Rebecca C LaMay, Harvey L Levy,[...]. BMC Pediatr 2018
54
12


Care in Specialized Centers and Data Sharing Increase Agreement in Hypertrophic Cardiomyopathy Genetic Test Interpretation.
Aisha Furqan, Patricia Arscott, Francesca Girolami, Allison L Cirino, Michelle Michels, Sharlene M Day, Iacopo Olivotto, Carolyn Y Ho, Euan Ashley, Eric M Green,[...]. Circ Cardiovasc Genet 2017
28
8


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
238
8

Integrating somatic variant data and biomarkers for germline variant classification in cancer predisposition genes.
Michael F Walsh, Deborah I Ritter, Chimene Kesserwan, Dmitriy Sonkin, Debyani Chakravarty, Elizabeth Chao, Rajarshi Ghosh, Yelena Kemel, Gang Wu, Kristy Lee,[...]. Hum Mutat 2018
19
10

Scaling resolution of variant classification differences in ClinVar between 41 clinical laboratories through an outlier approach.
Steven M Harrison, Jill S Dolinksy, Wenjie Chen, Christin D Collins, Soma Das, Joshua L Deignan, Kathryn B Garber, John Garcia, Olga Jarinova, Amy E Knight Johnson,[...]. Hum Mutat 2018
27
8

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.
Roddy Walsh, Francesco Mazzarotto, Nicola Whiffin, Rachel Buchan, William Midwinter, Alicja Wilk, Nicholas Li, Leanne Felkin, Nathan Ingold, Risha Govind,[...]. Genome Med 2019
53
8

Phenylketonuria: genotype-phenotype correlations based on expression analysis of structural and functional mutations in PAH.
Angel L Pey, Lourdes R Desviat, Alejandra Gámez, Magdalena Ugarte, Belén Pérez. Hum Mutat 2003
91
8

The Monarch Initiative: an integrative data and analytic platform connecting phenotypes to genotypes across species.
Christopher J Mungall, Julie A McMurry, Sebastian Köhler, James P Balhoff, Charles Borromeo, Matthew Brush, Seth Carbon, Tom Conlin, Nathan Dunn, Mark Engelstad,[...]. Nucleic Acids Res 2017
145
8


Relationship between genotype, phenylalanine hydroxylase expression and in vitro activity and metabolic phenotype in phenylketonuria.
Nastassja Himmelreich, Nan Shen, Jürgen G Okun, Christian Thiel, Georg F Hoffmann, Nenad Blau. Mol Genet Metab 2018
14
14

Molecular basis of phenotypic heterogeneity in phenylketonuria.
Y Okano, R C Eisensmith, F Güttler, U Lichter-Konecki, D S Konecki, F K Trefz, M Dasovich, T Wang, K Henriksen, H Lou. N Engl J Med 1991
225
8

In vitro residual activity of phenylalanine hydroxylase variants and correlation with metabolic phenotypes in PKU.
Roberta Trunzo, Rosa Santacroce, Nan Shen, Sabine Jung-Klawitter, Angelica Leccese, Giuseppe De Girolamo, Maurizio Margaglione, Nenad Blau. Gene 2016
8
25

Aberrant splicing of phenylalanine hydroxylase mRNA: the major cause for phenylketonuria in parts of southern Europe.
B Dworniczak, C Aulehla-Scholz, L Kalaydjieva, K Bartholomé, K Grudda, J Horst. Genomics 1991
65
8

Gene ontology: tool for the unification of biology. The Gene Ontology Consortium.
M Ashburner, C A Ball, J A Blake, D Botstein, H Butler, J M Cherry, A P Davis, K Dolinski, S S Dwight, J T Eppig,[...]. Nat Genet 2000
8

Evidence for the widespread coupling of alternative splicing and nonsense-mediated mRNA decay in humans.
Benjamin P Lewis, Richard E Green, Steven E Brenner. Proc Natl Acad Sci U S A 2003
720
8

The nonsense-mediated decay RNA surveillance pathway.
Yao-Fu Chang, J Saadi Imam, Miles F Wilkinson. Annu Rev Biochem 2007
877
8

Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Dona M Kanavy, Shannon M McNulty, Meera K Jairath, Sarah E Brnich, Chris Bizon, Bradford C Powell, Jonathan S Berg. Genome Med 2019
14
14


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.