A citation-based method for searching scientific literature

Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.
Maya S Safarova, Eric W Klee, Linnea M Baudhuin, Erin M Winkler, Michelle L Kluge, Suzette J Bielinski, Janet E Olson, Iftikhar J Kullo. Eur J Hum Genet 2017
Times Cited: 8






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List of co-cited articles
62 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
13612
5
62

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
1643
4
50

Use of low-density lipoprotein cholesterol gene score to distinguish patients with polygenic and monogenic familial hypercholesterolaemia: a case-control study.
Philippa J Talmud, Sonia Shah, Ros Whittall, Marta Futema, Philip Howard, Jackie A Cooper, Seamus C Harrison, Kawah Li, Fotios Drenos, Frederik Karpe,[...]. Lancet 2013
392
3
37

Child-Parent Familial Hypercholesterolemia Screening in Primary Care.
David S Wald, Jonathan P Bestwick, Joan K Morris, Ken Whyte, Lucy Jenkins, Nicholas J Wald. N Engl J Med 2016
180
3
37

Refinement of variant selection for the LDL cholesterol genetic risk score in the diagnosis of the polygenic form of clinical familial hypercholesterolemia and replication in samples from 6 countries.
Marta Futema, Sonia Shah, Jackie A Cooper, KaWah Li, Ros A Whittall, Mahtab Sharifi, Olivia Goldberg, Euridiki Drogari, Vasiliki Mollaki, Albert Wiegman,[...]. Clin Chem 2015
139
3
37

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
1011
3
37

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
281
3
37

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
170
3
37

Estimating the prevalence of heterozygous familial hypercholesterolaemia: a systematic review and meta-analysis.
Leo E Akioyamen, Jacques Genest, Shubham D Shan, Rachel L Reel, Jordan M Albaum, Anna Chu, Jack V Tu. BMJ Open 2017
179
3
37

Familial hypercholesterolaemia.
Joep C Defesche, Samuel S Gidding, Mariko Harada-Shiba, Robert A Hegele, Raul D Santos, Anthony S Wierzbicki. Nat Rev Dis Primers 2017
208
3
37

Familial hypercholesterolaemia is underdiagnosed and undertreated in the general population: guidance for clinicians to prevent coronary heart disease: consensus statement of the European Atherosclerosis Society.
Børge G Nordestgaard, M John Chapman, Steve E Humphries, Henry N Ginsberg, Luis Masana, Olivier S Descamps, Olov Wiklund, Robert A Hegele, Frederick J Raal, Joep C Defesche,[...]. Eur Heart J 2013
1595
3
37

Polygenic risk score predicts prevalence of cardiovascular disease in patients with familial hypercholesterolemia.
Martine Paquette, Michael Chong, Sébastien Thériault, Robert Dufour, Guillaume Paré, Alexis Baass. J Clin Lipidol 2017
67
3
37

Knowing the Prevalence of Familial Hypercholesterolemia Matters.
Anne C Goldberg, Samuel S Gidding. Circulation 2016
25
2
25

Treatment Gaps in Adults With Heterozygous Familial Hypercholesterolemia in the United States: Data From the CASCADE-FH Registry.
Emil M deGoma, Zahid S Ahmad, Emily C O'Brien, Iris Kindt, Peter Shrader, Connie B Newman, Yashashwi Pokharel, Seth J Baum, Linda C Hemphill, Lisa C Hudgins,[...]. Circ Cardiovasc Genet 2016
132
2
25

Prevalence of Familial Hypercholesterolemia in the 1999 to 2012 United States National Health and Nutrition Examination Surveys (NHANES).
Sarah D de Ferranti, Angie Mae Rodday, Michael M Mendelson, John B Wong, Laurel K Leslie, R Christopher Sheldrick. Circulation 2016
240
2
25

Clinical experience of scoring criteria for Familial Hypercholesterolaemia (FH) genetic testing in Wales.
K Haralambos, S D Whatley, R Edwards, R Gingell, D Townsend, P Ashfield-Watt, P Lansberg, D B N Datta, I F W McDowell. Atherosclerosis 2015
82
2
25

Whole exome sequencing of familial hypercholesterolaemia patients negative for LDLR/APOB/PCSK9 mutations.
Marta Futema, Vincent Plagnol, KaWah Li, Ros A Whittall, H Andrew W Neil, Mary Seed, Stefano Bertolini, Sebastiano Calandra, Olivier S Descamps, Colin A Graham,[...]. J Med Genet 2014
85
2
25

Familial hypercholesterolaemia in children and adolescents: gaining decades of life by optimizing detection and treatment.
Albert Wiegman, Samuel S Gidding, Gerald F Watts, M John Chapman, Henry N Ginsberg, Marina Cuchel, Leiv Ose, Maurizio Averna, Catherine Boileau, Jan Borén,[...]. Eur Heart J 2015
434
2
25

Prevalence and management of familial hypercholesterolaemia in coronary patients: An analysis of EUROASPIRE IV, a study of the European Society of Cardiology.
Guy De Backer, Joost Besseling, John Chapman, G Kees Hovingh, John J P Kastelein, Kornelia Kotseva, Kausik Ray, Željko Reiner, David Wood, Dirk De Bacquer. Atherosclerosis 2015
113
2
25

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
148
2
25

Evolving health care through personal genomics.
Heidi L Rehm. Nat Rev Genet 2017
63
2
25

Clinical Impact and Cost-Effectiveness of Whole Exome Sequencing as a Diagnostic Tool: A Pediatric Center's Experience.
C Alexander Valencia, Ammar Husami, Jennifer Holle, Judith A Johnson, Yaping Qian, Abhinav Mathur, Chao Wei, Subba Rao Indugula, Fanggeng Zou, Haiying Meng,[...]. Front Pediatr 2015
122
2
25

Building the foundation for genomics in precision medicine.
Samuel J Aronson, Heidi L Rehm. Nature 2015
231
2
25

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
245
2
25

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
58
2
25

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
395
2
25

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
6634
2
25

Cardiovascular disease in familial hypercholesterolemia: Validation and refinement of the Montreal-FH-SCORE.
Martine Paquette, Diane Brisson, Robert Dufour, Étienne Khoury, Daniel Gaudet, Alexis Baass. J Clin Lipidol 2017
37
2
25

The Agenda for Familial Hypercholesterolemia: A Scientific Statement From the American Heart Association.
Samuel S Gidding, Mary Ann Champagne, Sarah D de Ferranti, Joep Defesche, Matthew K Ito, Joshua W Knowles, Brian McCrindle, Frederick Raal, Daniel Rader, Raul D Santos,[...]. Circulation 2015
392
2
25

Diagnostic scoring for familial hypercholesterolaemia in practice.
Kate Haralambos, Pauline Ashfield-Watt, Ian F W McDowell. Curr Opin Lipidol 2016
20
2
25

Mutations in STAP1 are associated with autosomal dominant hypercholesterolemia.
Sigrid W Fouchier, Geesje M Dallinga-Thie, Joost C M Meijers, Noam Zelcer, John J P Kastelein, Joep C Defesche, G Kees Hovingh. Circ Res 2014
116
2
25

Simplified Canadian Definition for Familial Hypercholesterolemia.
Isabelle Ruel, Diane Brisson, Sumayah Aljenedil, Zuhier Awan, Alexis Baass, Alexandre Bélanger, Jean Bergeron, David Bewick, James M Brophy, Liam R Brunham,[...]. Can J Cardiol 2018
45
2
25

Inhibition of PCSK9 with evolocumab in homozygous familial hypercholesterolaemia (TESLA Part B): a randomised, double-blind, placebo-controlled trial.
Frederick J Raal, Narimon Honarpour, Dirk J Blom, G Kees Hovingh, Feng Xu, Rob Scott, Scott M Wasserman, Evan A Stein. Lancet 2015
502
2
25

The 9p21.3 locus and cardiovascular risk in familial hypercholesterolemia.
Martine Paquette, Michael Chong, Yascara Grisel Luna Saavedra, Guillaume Paré, Robert Dufour, Alexis Baass. J Clin Lipidol 2017
15
2
25

Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically.
Jian Wang, Jacqueline S Dron, Matthew R Ban, John F Robinson, Adam D McIntyre, Maher Alazzam, Pei Jun Zhao, Allison A Dilliott, Henian Cao, Murray W Huff,[...]. Arterioscler Thromb Vasc Biol 2016
138
2
25

Predicting Cardiovascular Events in Familial Hypercholesterolemia: The SAFEHEART Registry (Spanish Familial Hypercholesterolemia Cohort Study).
Leopoldo Pérez de Isla, Rodrigo Alonso, Nelva Mata, Cristina Fernández-Pérez, Ovidio Muñiz, José Luis Díaz-Díaz, Adriana Saltijeral, Francisco Fuentes-Jiménez, Raimundo de Andrés, Daniel Zambón,[...]. Circulation 2017
190
2
25

Homozygous familial hypercholesterolaemia: new insights and guidance for clinicians to improve detection and clinical management. A position paper from the Consensus Panel on Familial Hypercholesterolaemia of the European Atherosclerosis Society.
Marina Cuchel, Eric Bruckert, Henry N Ginsberg, Frederick J Raal, Raul D Santos, Robert A Hegele, Jan Albert Kuivenhoven, Børge G Nordestgaard, Olivier S Descamps, Elisabeth Steinhagen-Thiessen,[...]. Eur Heart J 2014
629
2
25

Genetically Confirmed Familial Hypercholesterolemia in Patients With Acute Coronary Syndrome.
Almudena Amor-Salamanca, Sergio Castillo, Emiliano Gonzalez-Vioque, Fernando Dominguez, Lucía Quintana, Carla Lluís-Ganella, Juan Manuel Escudier, Javier Ortega, Enrique Lara-Pezzi, Luis Alonso-Pulpon,[...]. J Am Coll Cardiol 2017
86
2
25

Homozygous Familial Hypercholesterolemia Patients With Identical Mutations Variably Express the LDLR (Low-Density Lipoprotein Receptor): Implications for the Efficacy of Evolocumab.
Aurélie Thedrez, Dirk J Blom, Stéphane Ramin-Mangata, Valentin Blanchard, Mikaël Croyal, Kévin Chemello, Brice Nativel, Matthieu Pichelin, Bertrand Cariou, Steeve Bourane,[...]. Arterioscler Thromb Vasc Biol 2018
57
2
25

Diagnostic Yield and Clinical Utility of Sequencing Familial Hypercholesterolemia Genes in Patients With Severe Hypercholesterolemia.
Amit V Khera, Hong-Hee Won, Gina M Peloso, Kim S Lawson, Traci M Bartz, Xuan Deng, Elisabeth M van Leeuwen, Pradeep Natarajan, Connor A Emdin, Alexander G Bick,[...]. J Am Coll Cardiol 2016
513
2
25

Long-term treatment with evolocumab added to conventional drug therapy, with or without apheresis, in patients with homozygous familial hypercholesterolaemia: an interim subset analysis of the open-label TAUSSIG study.
Frederick J Raal, G Kees Hovingh, Dirk Blom, Raul D Santos, Mariko Harada-Shiba, Eric Bruckert, Patrick Couture, Handrean Soran, Gerald F Watts, Christopher Kurtz,[...]. Lancet Diabetes Endocrinol 2017
144
2
25

Coronary Heart Disease, Peripheral Arterial Disease, and Stroke in Familial Hypercholesterolaemia: Insights From the SAFEHEART Registry (Spanish Familial Hypercholesterolaemia Cohort Study).
Leopoldo Pérez de Isla, Rodrigo Alonso, Nelva Mata, Adriana Saltijeral, Ovidio Muñiz, Patricia Rubio-Marin, José L Diaz-Diaz, Francisco Fuentes, Raimundo de Andrés, Daniel Zambón,[...]. Arterioscler Thromb Vasc Biol 2016
97
2
25

Efficacy of alirocumab in 1191 patients with a wide spectrum of mutations in genes causative for familial hypercholesterolemia.
Joep C Defesche, Claudia Stefanutti, Gisle Langslet, Paul N Hopkins, Werner Seiz, Marie T Baccara-Dinet, Sara C Hamon, Poulabi Banerjee, John J P Kastelein. J Clin Lipidol 2017
31
2
25

Low-density lipoproteins cause atherosclerotic cardiovascular disease. 1. Evidence from genetic, epidemiologic, and clinical studies. A consensus statement from the European Atherosclerosis Society Consensus Panel.
Brian A Ference, Henry N Ginsberg, Ian Graham, Kausik K Ray, Chris J Packard, Eric Bruckert, Robert A Hegele, Ronald M Krauss, Frederick J Raal, Heribert Schunkert,[...]. Eur Heart J 2017
1377
2
25

Greater preclinical atherosclerosis in treated monogenic familial hypercholesterolemia vs. polygenic hypercholesterolemia.
Mahtab Sharifi, Elizabeth Higginson, Sven Bos, Angela Gallivan, Darren Harvey, Ka Wah Li, Amali Abeysekera, Angela Haddon, Helen Ashby, Kate E Shipman,[...]. Atherosclerosis 2017
52
2
25

Defining severe familial hypercholesterolaemia and the implications for clinical management: a consensus statement from the International Atherosclerosis Society Severe Familial Hypercholesterolemia Panel.
Raul D Santos, Samuel S Gidding, Robert A Hegele, Marina A Cuchel, Philip J Barter, Gerald F Watts, Seth J Baum, Alberico L Catapano, M John Chapman, Joep C Defesche,[...]. Lancet Diabetes Endocrinol 2016
237
2
25

Review of first 5 years of screening for familial hypercholesterolaemia in the Netherlands.
M A Umans-Eckenhausen, J C Defesche, E J Sijbrands, R L Scheerder, J J Kastelein. Lancet 2001
324
2
25

ABO blood group is a cardiovascular risk factor in patients with familial hypercholesterolemia.
Martine Paquette, Robert Dufour, Alexis Baass. J Clin Lipidol 2018
17
2
25

High lipoprotein(a) as a possible cause of clinical familial hypercholesterolaemia: a prospective cohort study.
Anne Langsted, Pia R Kamstrup, Marianne Benn, Anne Tybjærg-Hansen, Børge G Nordestgaard. Lancet Diabetes Endocrinol 2016
166
2
25

Universal Screening for Familial Hypercholesterolemia in Children.
Gašper Klančar, Urh Grošelj, Jernej Kovač, Nevenka Bratanič, Nataša Bratina, Katarina Trebušak Podkrajšek, Tadej Battelino. J Am Coll Cardiol 2015
97
2
25


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.

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