A citation-based method for searching scientific literature

Sandra Janssens, Davit Chokoshvili, Danya F Vears, Anne De Paepe, Pascal Borry. BMC Med Ethics 2017
Times Cited: 5







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



Times Cited
  Times     Co-cited
Similarity


Responsible implementation of expanded carrier screening.
Lidewij Henneman, Pascal Borry, Davit Chokoshvili, Martina C Cornel, Carla G van El, Francesca Forzano, Alison Hall, Heidi C Howard, Sandra Janssens, Hülya Kayserili,[...]. Eur. J. Hum. Genet. 2016
85
60

Expanded carrier screening for monogenic disorders: where are we now?
Davit Chokoshvili, Danya Vears, Pascal Borry. Prenat. Diagn. 2018
29
60

Changing trends in carrier screening for genetic disease in the United States.
Shivani B Nazareth, Gabriel A Lazarin, James D Goldberg. Prenat. Diagn. 2015
29
40

An empirical estimate of carrier frequencies for 400+ causal Mendelian variants: results from an ethnically diverse clinical sample of 23,453 individuals.
Gabriel A Lazarin, Imran S Haque, Shivani Nazareth, Kevin Iori, A Scott Patterson, Jessica L Jacobson, John R Marshall, William K Seltzer, Pasquale Patrizio, Eric A Evans,[...]. Genet. Med. 2013
112
40



A universal carrier test for the long tail of Mendelian disease.
Balaji S Srinivasan, Eric A Evans, Jason Flannick, A Scott Patterson, Christopher C Chang, Tuan Pham, Sharon Young, Amit Kaushal, James Lee, Jessica L Jacobson,[...]. Reprod. Biomed. Online 2010
58
40


Population-based preconception carrier screening: how potential users from the general population view a test for 50 serious diseases.
Mirjam Plantinga, Erwin Birnie, Kristin M Abbott, Richard J Sinke, Anneke M Lucassen, Juliette Schuurmans, Seyma Kaplan, Marian A Verkerk, Adelita V Ranchor, Irene M van Langen. Eur. J. Hum. Genet. 2016
33
40


Preconceptional genetic carrier testing and the commercial offer directly-to-consumers.
Pascal Borry, Lidewij Henneman, Phillis Lakeman, Leo P ten Kate, Martina C Cornel, Heidi C Howard. Hum. Reprod. 2011
53
20

Nonpropositional content in direct-to-consumer genetic testing advertisements.
Pascal Borry, Mahsa Shabani, Heidi Carmen Howard. Am J Bioeth 2013
7
20

Informational content, literacy demands, and usability of websites offering health-related genetic tests directly to consumers.
Christina R Lachance, Lori A H Erby, Beth M Ford, Vincent C Allen, Kimberly A Kaphingst. Genet. Med. 2010
60
20

Expanded carrier screening: A review of early implementation and literature.
Gabriel A Lazarin, Imran S Haque. Semin. Perinatol. 2016
27
20




Informed choice in direct-to-consumer genetic testing (DTCGT) websites: a content analysis of benefits, risks, and limitations.
Amanda Singleton, Lori Hamby Erby, Kathryn V Foisie, Kimberly A Kaphingst. J Genet Couns 2012
31
20


Growing complexity of (expanded) carrier screening: Direct-to-consumer, physician-mediated, and clinic-based offers.
Davit Chokoshvili, Danya F Vears, Pascal Borry. Best Pract Res Clin Obstet Gynaecol 2017
9
20

Secondary findings and carrier test frequencies in a large multiethnic sample.
Tomasz Gambin, Shalini N Jhangiani, Jennifer E Below, Ian M Campbell, Wojciech Wiszniewski, Donna M Muzny, Jeffrey Staples, Alanna C Morrison, Matthew N Bainbridge, Samantha Penney,[...]. Genome Med 2015
34
20

Business and Breakthrough: Framing (Expanded) Genetic Carrier Screening for the Public.
Avery E Holton, Heather E Canary, Bob Wong. Health Commun 2017
3
33

Creation of a National, At-home Model for Ashkenazi Jewish Carrier Screening.
Karen Arnovitz Grinzaid, Patricia Zartman Page, Jessica Johnson Denton, Jessica Ginsberg. J Genet Couns 2015
9
20

Carrier testing for severe childhood recessive diseases by next-generation sequencing.
Callum J Bell, Darrell L Dinwiddie, Neil A Miller, Shannon L Hateley, Elena E Ganusova, Joann Mudge, Ray J Langley, Lu Zhang, Clarence C Lee, Faye D Schilkey,[...]. Sci Transl Med 2011
390
20

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: new mutations and the paradox between genotype and phenotype.
J L Keulemans, A J Reuser, M A Kroos, R Willemsen, M M Hermans, A M van den Ouweland, J G de Jong, R A Wevers, W O Renier, D Schindler,[...]. J. Med. Genet. 1996
18
20

Diagnostic exome sequencing to elucidate the genetic basis of likely recessive disorders in consanguineous families.
Periklis Makrythanasis, Mari Nelis, Federico A Santoni, Michel Guipponi, Anne Vannier, Frédérique Béna, Stefania Gimelli, Elisavet Stathaki, Samia Temtamy, André Mégarbané,[...]. Hum. Mutat. 2014
45
20

Advantages of expanded universal carrier screening: what is at stake?
Sanne van der Hout, Kim Ca Holtkamp, Lidewij Henneman, Guido de Wert, Wybo J Dondorp. Eur J Hum Genet 2016
18
20

The molecular basis of glutamate formiminotransferase deficiency.
John F Hilton, Karen E Christensen, David Watkins, Benjamin A Raby, Yannick Renaud, Susanna de la Luna, Xavier Estivill, Robert E MacKenzie, Thomas J Hudson, David S Rosenblatt. Hum. Mutat. 2003
28
20

Calcium blocks formation of apoptosome by preventing nucleotide exchange in Apaf-1.
Qing Bao, Wenyun Lu, Joshua D Rabinowitz, Yigong Shi. Mol. Cell 2007
57
20

Disease gene identification strategies for exome sequencing.
Christian Gilissen, Alexander Hoischen, Han G Brunner, Joris A Veltman. Eur. J. Hum. Genet. 2012
247
20

Primary and secondary CoQ(10) deficiencies in humans.
Catarina M Quinzii, Michio Hirano. Biofactors 2011
56
20

Palladin mutation causes familial pancreatic cancer and suggests a new cancer mechanism.
Kay L Pogue-Geile, Ru Chen, Mary P Bronner, Tatjana Crnogorac-Jurcevic, Kara White Moyes, Sally Dowen, Carol A Otey, David A Crispin, Ryan D George, David C Whitcomb,[...]. PLoS Med. 2006
120
20

Analysis of the Born in Bradford birth cohort--authors' reply.
Eamonn Sheridan, John Wright, Peter Corry, Sam Oddie, Neil Small, Roger C Parslow. Lancet 2014
2
50

Apaf1 is required for mitochondrial pathways of apoptosis and brain development.
H Yoshida, Y Y Kong, R Yoshida, A J Elia, A Hakem, R Hakem, J M Penninger, T W Mak. Cell 1998
750
20

Human alpha-N-acetylgalactosaminidase (alpha-NAGA) deficiency: no association with neuroaxonal dystrophy?
H D Bakker, M L de Sonnaville, P Vreken, N G Abeling, J E Groener, J L Keulemans, O P van Diggelen. Eur. J. Hum. Genet. 2001
14
20

Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis.
E Rudd, Y T Bryceson, C Zheng, J Edner, S M Wood, K Ramme, S Gavhed, A Gürgey, M Hellebostad, A G Bechensteen,[...]. J. Med. Genet. 2008
34
20

Clinical whole-exome sequencing for the diagnosis of mendelian disorders.
Yaping Yang, Donna M Muzny, Jeffrey G Reid, Matthew N Bainbridge, Alecia Willis, Patricia A Ward, Alicia Braxton, Joke Beuten, Fan Xia, Zhiyv Niu,[...]. N. Engl. J. Med. 2013
20

Cathepsin D deficiency is associated with a human neurodegenerative disorder.
Robert Steinfeld, Konstanze Reinhardt, Kathrin Schreiber, Merle Hillebrand, Ralph Kraetzner, Wolfgang Bruck, Paul Saftig, Jutta Gartner. Am. J. Hum. Genet. 2006
159
20

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
20

Consanguineous marriage and reproductive risk: attitudes and understanding of ethnic groups practising consanguinity in Western society.
Marieke E Teeuw, Ghariba Loukili, Edien Ac Bartels, Leo P ten Kate, Martina C Cornel, Lidewij Henneman. Eur. J. Hum. Genet. 2014
16
20

An exome sequencing strategy to diagnose lethal autosomal recessive disorders.
Sian Ellard, Emma Kivuva, Peter Turnpenny, Karen Stals, Matthew Johnson, Weijia Xie, Richard Caswell, Hana Lango Allen. Eur. J. Hum. Genet. 2015
24
20

Integrated sequence analysis pipeline provides one-stop solution for identifying disease-causing mutations.
Hao Hu, Thomas F Wienker, Luciana Musante, Vera M Kalscheuer, Kimia Kahrizi, Hossein Najmabadi, H Hilger Ropers. Hum. Mutat. 2014
23
20

Disruption of palladin results in neural tube closure defects in mice.
Huijun Luo, Xuesong Liu, Fang Wang, Qiuhua Huang, Shuhong Shen, Long Wang, Guojiang Xu, Xia Sun, Hui Kong, Mingmin Gu,[...]. Mol. Cell. Neurosci. 2005
56
20

BRAT1 mutations are associated with infantile epileptic encephalopathy, mitochondrial dysfunction, and survival into childhood.
Denise Horn, Bernhard Weschke, Ellen Knierim, Björn Fischer-Zirnsak, Werner Stenzel, Markus Schuelke, Tomasz Zemojtel. Am. J. Med. Genet. A 2016
10
20



Apaf-1 deficiency and neural tube closure defects are found in fog mice.
N Honarpour, S L Gilbert, B T Lahn, X Wang, J Herz. Proc. Natl. Acad. Sci. U.S.A. 2001
57
20

First steps in exploring prospective exome sequencing of consanguineous couples.
Marieke Teeuw, Quinten Waisfisz, Petra J G Zwijnenburg, Erik A Sistermans, Marjan M Weiss, Lidewij Henneman, Leo P ten Kate, Martina C Cornel, Hanne Meijers-Heijboer. Eur J Med Genet 2014
8
20

Whole-Exome Sequencing and Whole-Genome Sequencing in Critically Ill Neonates Suspected to Have Single-Gene Disorders.
Laurie D Smith, Laurel K Willig, Stephen F Kingsmore. Cold Spring Harb Perspect Med 2015
40
20

Compound heterozygous BRAT1 mutations cause familial Ohtahara syndrome with hypertonia and microcephaly.
Hirotomo Saitsu, Sumimasa Yamashita, Yukichi Tanaka, Yoshinori Tsurusaki, Mitsuko Nakashima, Noriko Miyake, Naomichi Matsumoto. J. Hum. Genet. 2014
22
20


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.