A citation-based method for searching scientific literature

Colin Mitchell, Corrette Ploem, Valesca Retèl, Sjef Gevers, Raoul Hennekam. Eur J Med Genet 2020
Times Cited: 4







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



Times Cited
  Times     Co-cited
Similarity


Analysis of VUS reporting, variant reinterpretation and recontact policies in clinical genomic sequencing consent forms.
Danya F Vears, Emilia Niemiec, Heidi Carmen Howard, Pascal Borry. Eur J Hum Genet 2018
30
75

A 'joint venture' model of recontacting in clinical genomics: challenges for responsible implementation.
Sandi Dheensa, Daniele Carrieri, Susan Kelly, Angus Clarke, Shane Doheny, Peter Turnpenny, Anneke Lucassen. Eur J Med Genet 2017
17
75

Is there a duty to recontact in light of new genetic technologies? A systematic review of the literature.
Ellen Otten, Mirjam Plantinga, Erwin Birnie, Marian A Verkerk, Anneke M Lucassen, Adelita V Ranchor, Irene M Van Langen. Genet Med 2015
49
75

Recontacting or not recontacting? A survey of current practices in clinical genetics centres in Europe.
Fabio Sirchia, Daniele Carrieri, Sandi Dheensa, Caroline Benjamin, Hülya Kayserili, Christophe Cordier, Carla G van El, Peter D Turnpenny, Bela Melegh, Álvaro Mendes,[...]. Eur J Hum Genet 2018
17
75


Recontacting in clinical practice: the views and expectations of patients in the United Kingdom.
Daniele Carrieri, Sandi Dheensa, Shane Doheny, Angus J Clarke, Peter D Turnpenny, Anneke M Lucassen, Susan E Kelly. Eur J Hum Genet 2017
15
50

A duty to recontact in genetics: context matters.
Noor A A Giesbertz, Wim H van Harten, Annelien L Bredenoord. Nat Rev Genet 2019
7
50

Recontacting patients in clinical genetics services: recommendations of the European Society of Human Genetics.
Daniele Carrieri, Heidi C Howard, Caroline Benjamin, Angus J Clarke, Sandi Dheensa, Shane Doheny, Naomi Hawkins, Tanya F Halbersma-Konings, Leigh Jackson, Hülya Kayserili,[...]. Eur J Hum Genet 2019
33
50

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
122
50

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
45
50

Recontacting in clinical practice: an investigation of the views of healthcare professionals and clinical scientists in the United Kingdom.
Daniele Carrieri, Sandi Dheensa, Shane Doheny, Angus J Clarke, Peter D Turnpenny, Anneke M Lucassen, Susan E Kelly. Eur J Hum Genet 2017
22
50

Variant classification changes over time in BRCA1 and BRCA2.
Chloe Mighton, George S Charames, Marina Wang, Kathleen-Rose Zakoor, Andrew Wong, Salma Shickh, Nicholas Watkins, Matthew S Lebo, Yvonne Bombard, Jordan Lerner-Ellis. Genet Med 2019
11
25

Genetic data sharing and privacy.
Marco D Sorani, John K Yue, Sourabh Sharma, Geoffrey T Manley, Adam R Ferguson. Neuroinformatics 2015
17
25


Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Rolph Pfundt, Marisol Del Rosario, Lisenka E L M Vissers, Michael P Kwint, Irene M Janssen, Nicole de Leeuw, Helger G Yntema, Marcel R Nelen, Dorien Lugtenberg, Erik-Jan Kamsteeg,[...]. Genet Med 2017
75
25

Patient portals and health apps: Pitfalls, promises, and what one might learn from the other.
Jessica L Baldwin, Hardeep Singh, Dean F Sittig, Traber Davis Giardina. Healthc (Amst) 2017
50
25

Complete functional characterization of disease-associated genetic variants in the complement factor H gene.
Héctor Martín Merinero, Sheila Pinto García, Jesús García-Fernández, Emilia Arjona, Agustín Tortajada, Santiago Rodríguez de Córdoba. Kidney Int 2018
26
25

Reinterpretation of sequence variants: one diagnostic laboratory's experience, and the need for standard guidelines.
Caitlin Chisholm, Hussein Daoud, Mahdi Ghani, Gabrielle Mettler, Jean McGowan-Jordan, Liz Sinclair-Bourque, Amanda Smith, Olga Jarinova. Genet Med 2018
15
25

Opening the psychological black box in genetic counseling. The psychological impact of DNA testing is predicted by the counselees' perception, the medical impact by the pathogenic or uninformative BRCA1/2-result.
Joël Vos, Encarna Gómez-García, Jan C Oosterwijk, Fred H Menko, Reinoud D Stoel, Christi J van Asperen, Anna M Jansen, Anne M Stiggelbout, Aad Tibben. Psychooncology 2012
48
25

Classification of Genes: Standardized Clinical Validity Assessment of Gene-Disease Associations Aids Diagnostic Exome Analysis and Reclassifications.
Erica D Smith, Kelly Radtke, Mari Rossi, Deepali N Shinde, Sourat Darabi, Dima El-Khechen, Zöe Powis, Katherine Helbig, Kendra Waller, Dorothy K Grange,[...]. Hum Mutat 2017
44
25

Identification of a new VHL exon and complex splicing alterations in familial erythrocytosis or von Hippel-Lindau disease.
Marion Lenglet, Florence Robriquet, Klaus Schwarz, Carme Camps, Anne Couturier, David Hoogewijs, Alexandre Buffet, Samantha J L Knight, Sophie Gad, Sophie Couvé,[...]. Blood 2018
26
25

The Responsibility to Recontact Research Participants after Reinterpretation of Genetic and Genomic Research Results.
Yvonne Bombard, Kyle B Brothers, Sara Fitzgerald-Butt, Nanibaa' A Garrison, Leila Jamal, Cynthia A James, Gail P Jarvik, Jennifer B McCormick, Tanya N Nelson, Kelly E Ormond,[...]. Am J Hum Genet 2019
46
25


Reanalysis and optimisation of bioinformatic pipelines is critical for mutation detection.
Mark J Cowley, Yu-Chi Liu, Karen L Oliver, Gemma Carvill, Candace T Myers, Velimir Gayevskiy, Martin Delatycki, Danique R M Vlaskamp, Ying Zhu, Heather Mefford,[...]. Hum Mutat 2019
5
25

Lynch Syndrome Limbo: Patient Understanding of Variants of Uncertain Significance.
Ilana Solomon, Elizabeth Harrington, Gillian Hooker, Lori Erby, Jennifer Axilbund, Heather Hampel, Kara Semotiuk, Amie Blanco, William M P Klein, Francis Giardiello,[...]. J Genet Couns 2017
28
25

MPZL2 is a novel gene associated with autosomal recessive nonsyndromic moderate hearing loss.
Guney Bademci, Clemer Abad, Armagan Incesulu, Abolfazl Rad, Ozgul Alper, Susanne M Kolb, Filiz B Cengiz, Oscar Diaz-Horta, Fatma Silan, Ercan Mihci,[...]. Hum Genet 2018
7
25

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
25

Identification of Misclassified ClinVar Variants via Disease Population Prevalence.
Naisha Shah, Ying-Chen Claire Hou, Hung-Chun Yu, Rachana Sainger, C Thomas Caskey, J Craig Venter, Amalio Telenti. Am J Hum Genet 2018
55
25

Communicating new knowledge on previously reported genetic variants.
Samuel J Aronson, Eugene H Clark, Matthew Varugheese, Samantha Baxter, Lawrence J Babb, Heidi L Rehm. Genet Med 2012
69
25

Letter: Relearning the 3 R's? Reinterpretation, recontact, and return of genetic variants.
Bartha Maria Knoppers, Adrian Thorogood, Ma'n H Zawati. Genet Med 2019
6
25

Guidelines for diagnostic next-generation sequencing.
Gert Matthijs, Erika Souche, Mariëlle Alders, Anniek Corveleyn, Sebastian Eck, Ilse Feenstra, Valérie Race, Erik Sistermans, Marc Sturm, Marjan Weiss,[...]. Eur J Hum Genet 2016
228
25

Systematic reanalysis of genomic data improves quality of variant interpretation.
S M Hiatt, M D Amaral, K M Bowling, C R Finnila, M L Thompson, D E Gray, J M J Lawlor, J N Cochran, E M Bebin, K B Brothers,[...]. Clin Genet 2018
15
25

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
137
25



Analyzing and Reanalyzing the Genome: Findings from the MedSeq Project.
Kalotina Machini, Ozge Ceyhan-Birsoy, Danielle R Azzariti, Himanshu Sharma, Peter Rossetti, Lisa Mahanta, Laura Hutchinson, Heather McLaughlin, Robert C Green, Matthew Lebo,[...]. Am J Hum Genet 2019
16
25


Next Generation Sequencing: From Research Area to Clinical Practice.
Chiara Di Resta, Maurizio Ferrari. EJIFCC 2018
20
25

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
20
25

Increased diagnostic and new genes identification outcome using research reanalysis of singleton exome sequencing.
Ange-Line Bruel, Sophie Nambot, Virginie Quéré, Antonio Vitobello, Julien Thevenon, Mirna Assoum, Sébastien Moutton, Nada Houcinat, Daphné Lehalle, Nolwenn Jean-Marçais,[...]. Eur J Hum Genet 2019
11
25

Clinical implications of systematic phenotyping and exome sequencing in patients with primary antibody deficiency.
Hassan Abolhassani, Asghar Aghamohammadi, Mingyan Fang, Nima Rezaei, Chongyi Jiang, Xiao Liu, Qiang Pan-Hammarström, Lennart Hammarström. Genet Med 2019
51
25

Reinterpretation of BRCA1 and BRCA2 variants of uncertain significance in patients with hereditary breast/ovarian cancer using the ACMG/AMP 2015 guidelines.
Min-Kyung So, Tae-Dong Jeong, Woosung Lim, Byung-In Moon, Nam Sun Paik, Seung Cheol Kim, Jungwon Huh. Breast Cancer 2019
15
25

From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Anna Lindstrand, Jesper Eisfeldt, Maria Pettersson, Claudia M B Carvalho, Malin Kvarnung, Giedre Grigelioniene, Britt-Marie Anderlid, Olof Bjerin, Peter Gustavsson, Anna Hammarsjö,[...]. Genome Med 2019
32
25

Diagnostic Yield of Epilepsy Panel Testing in Patients With Seizure Onset Within the First Year of Life.
Se Song Jang, Soo Yeon Kim, Hunmin Kim, Hee Hwang, Jong Hee Chae, Ki Joong Kim, Jong-Il Kim, Byung Chan Lim. Front Neurol 2019
8
25

Clinical Application of Targeted Next-Generation Sequencing Panels and Whole Exome Sequencing in Childhood Epilepsy.
Gregory Costain, Dawn Cordeiro, Diana Matviychuk, Saadet Mercimek-Andrews. Neuroscience 2019
28
25

Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield.
Cynthia S Gubbels, Grace E VanNoy, Jill A Madden, Deborah Copenheaver, Sandra Yang, Monica H Wojcik, Nina B Gold, Casie A Genetti, Joan Stoler, Richard B Parad,[...]. Genet Med 2020
26
25

Content analysis: method, applications, and issues.
B Downe-Wamboldt. Health Care Women Int 1992
648
25

Increased diagnostic yield by reanalysis of data from a hearing loss gene panel.
Yu Sun, Jiale Xiang, Yidong Liu, Sen Chen, Jintao Yu, Jiguang Peng, Zijing Liu, Lisha Chen, Jun Sun, Yun Yang,[...]. BMC Med Genomics 2019
5
25

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
63
25

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses.
Samuel W Baker, Jill R Murrell, Addie I Nesbitt, Kieran B Pechter, Jorune Balciuniene, Xiaonan Zhao, Zhenming Yu, Elizabeth H Denenberg, Elizabeth T DeChene, Alisha B Wilkens,[...]. J Mol Diagn 2019
25
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.