A citation-based method for searching scientific literature

Jessica L Mester, Rajarshi Ghosh, Tina Pesaran, Robert Huether, Rachid Karam, Kathleen S Hruska, Helio A Costa, Katherine Lachlan, Joanne Ngeow, Jill Barnholtz-Sloan, Kaitlin Sesock, Felicia Hernandez, Liying Zhang, Laura Milko, Sharon E Plon, Madhuri Hegde, Charis Eng. Hum Mutat 2018
Times Cited: 66







List of co-cited articles
427 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
74

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
43

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
40

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
39

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
36

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
30

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
28

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
25

ClinVar: improving access to variant interpretations and supporting evidence.
Melissa J Landrum, Jennifer M Lee, Mark Benson, Garth R Brown, Chen Chao, Shanmuga Chitipiralla, Baoshan Gu, Jennifer Hart, Douglas Hoffman, Wonhee Jang,[...]. Nucleic Acids Res 2018
22

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
21

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
34

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
21


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
21


Unique aspects of sequence variant interpretation for inborn errors of metabolism (IEM): The ClinGen IEM Working Group and the Phenylalanine Hydroxylase Gene.
Diane B Zastrow, Heather Baudet, Wei Shen, Amanda Thomas, Yue Si, Meredith A Weaver, Angela M Lager, Jixia Liu, Rachel Mangels, Selina S Dwight,[...]. Hum Mutat 2018
24
50

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
18

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
18

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
23

Lifetime cancer risks in individuals with germline PTEN mutations.
Min-Han Tan, Jessica L Mester, Joanne Ngeow, Lisa A Rybicki, Mohammed S Orloff, Charis Eng. Clin Cancer Res 2012
469
16

Multiplex assessment of protein variant abundance by massively parallel sequencing.
Kenneth A Matreyek, Lea M Starita, Jason J Stephany, Beth Martin, Melissa A Chiasson, Vanessa E Gray, Martin Kircher, Arineh Khechaduri, Jennifer N Dines, Ronald J Hause,[...]. Nat Genet 2018
133
16

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
15

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
15

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
15

Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations.
M G Butler, M J Dasouki, X-P Zhou, Z Talebizadeh, M Brown, T N Takahashi, J H Miles, C H Wang, R Stratton, R Pilarski,[...]. J Med Genet 2005
518
13

Accurate classification of BRCA1 variants with saturation genome editing.
Gregory M Findlay, Riza M Daza, Beth Martin, Melissa D Zhang, Anh P Leith, Molly Gasperini, Joseph D Janizek, Xingfan Huang, Lea M Starita, Jay Shendure. Nature 2018
284
13


Specifications of the ACMG/AMP variant interpretation guidelines for germline TP53 variants.
Cristina Fortuno, Kristy Lee, Magali Olivier, Tina Pesaran, Phuong L Mai, Kelvin C de Andrade, Laura D Attardi, Stephanie Crowley, D Gareth Evans, Bing-Jian Feng,[...]. Hum Mutat 2021
28
32

Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome.
D Liaw, D J Marsh, J Li, P L Dahia, S I Wang, Z Zheng, S Bose, K M Call, H C Tsou, M Peacocke,[...]. Nat Genet 1997
12

A clinical scoring system for selection of patients for PTEN mutation testing is proposed on the basis of a prospective study of 3042 probands.
Min-Han Tan, Jessica Mester, Charissa Peterson, Yiran Yang, Jin-Lian Chen, Lisa A Rybicki, Kresimira Milas, Holly Pederson, Berna Remzi, Mohammed S Orloff,[...]. Am J Hum Genet 2011
232
12


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
12

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
12


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
12

Functionally distinct groups of inherited PTEN mutations in autism and tumour syndromes.
Laura Spinelli, Fiona M Black, Jonathan N Berg, Britta J Eickholt, Nicholas R Leslie. J Med Genet 2015
65
10

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
936
10

Human Splicing Finder: an online bioinformatics tool to predict splicing signals.
François-Olivier Desmet, Dalil Hamroun, Marine Lalande, Gwenaëlle Collod-Béroud, Mireille Claustres, Christophe Béroud. Nucleic Acids Res 2009
10

Suppression of cellular proliferation and invasion by the concerted lipid and protein phosphatase activities of PTEN.
L Davidson, H Maccario, N M Perera, X Yang, L Spinelli, P Tibarewal, B Glancy, A Gray, C J Weijer, C P Downes,[...]. Oncogene 2010
99
9

Cancer-associated PTEN mutants act in a dominant-negative manner to suppress PTEN protein function.
Antonella Papa, Lixin Wan, Massimo Bonora, Leonardo Salmena, Min Sup Song, Robin M Hobbs, Andrea Lunardi, Kaitlyn Webster, Christopher Ng, Ryan H Newton,[...]. Cell 2014
189
9

Functional evaluation of PTEN missense mutations using in vitro phosphoinositide phosphatase assay.
S Y Han, H Kato, S Kato, T Suzuki, H Shibata, S Ishii, K Shiiba, S Matsuno, R Kanamaru, C Ishioka. Cancer Res 2000
121
9

High cumulative risks of cancer in patients with PTEN hamartoma tumour syndrome.
Virginie Bubien, Françoise Bonnet, Veronique Brouste, Stéphanie Hoppe, Emmanuelle Barouk-Simonet, Albert David, Patrick Edery, Armand Bottani, Valérie Layet, Olivier Caron,[...]. J Med Genet 2013
175
9


PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome.
D J Marsh, J B Kum, K L Lunetta, M J Bennett, R J Gorlin, S F Ahmed, J Bodurtha, C Crowe, M A Curtis, M Dasouki,[...]. Hum Mol Genet 1999
415
9

PTEN, a putative protein tyrosine phosphatase gene mutated in human brain, breast, and prostate cancer.
J Li, C Yen, D Liaw, K Podsypanina, S Bose, S I Wang, J Puc, C Miliaresis, L Rodgers, R McCombie,[...]. Science 1997
9

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
9

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
22

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
10

Sequence variant classification and reporting: recommendations for improving the interpretation of cancer susceptibility genetic test results.
Sharon E Plon, Diana M Eccles, Douglas Easton, William D Foulkes, Maurizio Genuardi, Marc S Greenblatt, Frans B L Hogervorst, Nicoline Hoogerbrugge, Amanda B Spurdle, Sean V Tavtigian. Hum Mutat 2008
584
9

Application of a 5-tiered scheme for standardized classification of 2,360 unique mismatch repair gene variants in the InSiGHT locus-specific database.
Bryony A Thompson, Amanda B Spurdle, John-Paul Plazzer, Marc S Greenblatt, Kiwamu Akagi, Fahd Al-Mulla, Bharati Bapat, Inge Bernstein, Gabriel Capellá, Johan T den Dunnen,[...]. Nat Genet 2014
316
9


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.