A citation-based method for searching scientific literature

Jennifer J Johnston, Wendy S Rubinstein, Flavia M Facio, David Ng, Larry N Singh, Jamie K Teer, James C Mullikin, Leslie G Biesecker. Am J Hum Genet 2012
Times Cited: 159



Michael O Dorschner, Laura M Amendola, Emily H Turner, Peggy D Robertson, Brian H Shirts, Carlos J Gallego, Robin L Bennett, Kelly L Jones, Mari J Tokita, James T Bennett, Jerry H Kim, Elisabeth A Rosenthal, Daniel S Kim, Holly K Tabor, Michael J Bamshad, Arno G Motulsky, C Ronald Scott, Colin C Pritchard, Tom Walsh, Wylie Burke, Wendy H Raskind, Peter Byers, Fuki M Hisama, Deborah A Nickerson, Gail P Jarvik. Am J Hum Genet 2013
Times Cited: 268




List of shared articles



Times cited

Management of Secondary Genomic Findings.
Alexander E Katz, Robert L Nussbaum, Benjamin D Solomon, Heidi L Rehm, Marc S Williams, Leslie G Biesecker. Am J Hum Genet 2020
5

Incidental diagnosis of mucopolysaccharidosis type I in an infant with chronic intestinal pseudoobstruction by exome sequencing.
Auriane Cospain, Christèle Dubourg, Swellen Gastineau, Samia Pichard, Virginie Gandemer, Jacinthe Bonneau, Marie de Tayrac, Caroline Moreau, Sylvie Odent, Laurent Pasquier,[...]. Mol Genet Metab Rep 2020
0

Diagnostic power and clinical impact of exome sequencing in a cohort of 500 patients with rare diseases.
Caio Robledo D'Angioli Costa Quaio, Caroline Monaco Moreira, Gil Monteiro Novo-Filho, Patricia Rossi Sacramento-Bobotis, Michele Groenner Penna, Sandro Felix Perazzio, Aurelio Pimenta Dutra, Rafael Alves da Silva, Monize Nakamoto Provisor Santos, Vanessa Yurie Nozaki de Arruda,[...]. Am J Med Genet C Semin Med Genet 2020
3

Secondary findings from clinical genomic sequencing: prevalence, patient perspectives, family history assessment, and health-care costs from a multisite study.
M Ragan Hart, Barbara B Biesecker, Carrie L Blout, Kurt D Christensen, Laura M Amendola, Katie L Bergstrom, Sawona Biswas, Kevin M Bowling, Kyle B Brothers, Laura K Conlin,[...]. Genet Med 2019
48

Secondary findings: How did we get here, and where are we going?
Kelly E Ormond, Julianne M O'Daniel, Sarah S Kalia. J Genet Couns 2019
14

Rates of Actionable Genetic Findings in Individuals with Colorectal Cancer or Polyps Ascertained from a Community Medical Setting.
Adam S Gordon, Elisabeth A Rosenthal, David S Carrell, Laura M Amendola, Michael O Dorschner, Aaron Scrol, Ian B Stanaway, Shannon DeVange, James D Ralston, Hana Zouk,[...]. Am J Hum Genet 2019
2

Towards precision nephrology: the opportunities and challenges of genomic medicine.
Jordan G Nestor, Emily E Groopman, Ali G Gharavi. J Nephrol 2018
6

Secondary findings in 421 whole exome-sequenced Chinese children.
Wen Chen, Wenke Li, Yi Ma, Yujing Zhang, Bianmei Han, Xuewen Liu, Kun Zhao, Meixian Zhang, Jie Mi, Yuanyuan Fu,[...]. Hum Genomics 2018
2

Ethical Issues in Contemporary Clinical Genetics.
Genna Braverman, Zachary E Shapiro, Jonathan A Bernstein. Mayo Clin Proc Innov Qual Outcomes 2018
4

High-frequency actionable pathogenic exome variants in an average-risk cohort.
Shannon Rego, Orit Dagan-Rosenfeld, Wenyu Zhou, M Reza Sailani, Patricia Limcaoco, Elizabeth Colbert, Monika Avina, Jessica Wheeler, Colleen Craig, Denis Salins,[...]. Cold Spring Harb Mol Case Stud 2018
9

Assessing the capability of massively parallel sequencing for opportunistic pharmacogenetic screening.
David Ng, Celine S Hong, Larry N Singh, Jennifer J Johnston, James C Mullikin, Leslie G Biesecker. Genet Med 2017
7

Design of a randomized controlled trial for genomic carrier screening in healthy patients seeking preconception genetic testing.
Tia L Kauffman, Benjamin S Wilfond, Gail P Jarvik, Michael C Leo, Frances L Lynch, Jacob A Reiss, C Sue Richards, Carmit McMullen, Deborah Nickerson, Michael O Dorschner,[...]. Contemp Clin Trials 2017
16

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
8

The Human Gene Mutation Database: towards a comprehensive repository of inherited mutation data for medical research, genetic diagnosis and next-generation sequencing studies.
Peter D Stenson, Matthew Mort, Edward V Ball, Katy Evans, Matthew Hayden, Sally Heywood, Michelle Hussain, Andrew D Phillips, David N Cooper. Hum Genet 2017
592

Gene and Variant Annotation for Mendelian Disorders in the Era of Advanced Sequencing Technologies.
Samya Chakravorty, Madhuri Hegde. Annu Rev Genomics Hum Genet 2017
21

A semiquantitative metric for evaluating clinical actionability of incidental or secondary findings from genome-scale sequencing.
Jonathan S Berg, Ann Katherine M Foreman, Julianne M O'Daniel, Jessica K Booker, Lacey Boshe, Timothy Carey, Kristy R Crooks, Brian C Jensen, Eric T Juengst, Kristy Lee,[...]. Genet Med 2016
52

Whole-exome sequencing identifies mutations of TBC1D1 encoding a Rab-GTPase-activating protein in patients with congenital anomalies of the kidneys and urinary tract (CAKUT).
Anne Kosfeld, Martin Kreuzer, Christoph Daniel, Frank Brand, Anne-Kathrin Schäfer, Alexandra Chadt, Anna-Carina Weiss, Vera Riehmer, Cécile Jeanpierre, Michael Klintschar,[...]. Hum Genet 2016
16

Personal Genome Sequencing in Ostensibly Healthy Individuals and the PeopleSeq Consortium.
Michael D Linderman, Daiva E Nielsen, Robert C Green. J Pers Med 2016
29

A standardized, evidence-based protocol to assess clinical actionability of genetic disorders associated with genomic variation.
Jessica Ezzell Hunter, Stephanie A Irving, Leslie G Biesecker, Adam Buchanan, Brian Jensen, Kristy Lee, Christa Lese Martin, Laura Milko, Kristin Muessig, Annie D Niehaus,[...]. Genet Med 2016
53

Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer.
Kara N Maxwell, Steven N Hart, Joseph Vijai, Kasmintan A Schrader, Thomas P Slavin, Tinu Thomas, Bradley Wubbenhorst, Vignesh Ravichandran, Raymond M Moore, Chunling Hu,[...]. Am J Hum Genet 2016
68

Recommendations for the integration of genomics into clinical practice.
Sarah Bowdin, Adel Gilbert, Emma Bedoukian, Christopher Carew, Margaret P Adam, John Belmont, Barbara Bernhardt, Leslie Biesecker, Hans T Bjornsson, Miriam Blitzer,[...]. Genet Med 2016
79

Legal approaches regarding health-care decisions involving minors: implications for next-generation sequencing.
Karine Sénécal, Kristof Thys, Danya F Vears, Kristof Van Assche, Bartha M Knoppers, Pascal Borry. Eur J Hum Genet 2016
6

Actionable Genes, Core Databases, and Locus-Specific Databases.
Amélie Pinard, Morgane Miltgen, Arnaud Blanchard, Hélène Mathieu, Jean-Pierre Desvignes, David Salgado, Aurélie Fabre, Pauline Arnaud, Laura Barré, Martin Krahn,[...]. Hum Mutat 2016
4



Assessment of incidental findings in 232 whole-exome sequences from the Baylor-Hopkins Center for Mendelian Genomics.
Julie Jurgens, Hua Ling, Kurt Hetrick, Elizabeth Pugh, Francois Schiettecatte, Kimberly Doheny, Ada Hamosh, Dimitri Avramopoulos, David Valle, Nara Sobreira. Genet Med 2015
30

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
215

The Human Genome Project, and recent advances in personalized genomics.
Brenda J Wilson, Stuart G Nicholls. Risk Manag Healthc Policy 2015
26

Use of Whole Genome Sequencing for Diagnosis and Discovery in the Cancer Genetics Clinic.
Samantha B Foley, Jonathan J Rios, Victoria E Mgbemena, Linda S Robinson, Heather L Hampel, Amanda E Toland, Leslie Durham, Theodora S Ross. EBioMedicine 2015
29

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
38

Exome sequencing reveals frequent deleterious germline variants in cancer susceptibility genes in women with invasive breast cancer undergoing neoadjuvant chemotherapy.
Marissa S Ellingson, Steven N Hart, Krishna R Kalari, Vera Suman, Kimberly A Schahl, Travis J Dockter, Sara J Felten, Jason P Sinnwell, Kevin J Thompson, Xiaojia Tang,[...]. Breast Cancer Res Treat 2015
13

Identification of Medically Actionable Secondary Findings in the 1000 Genomes.
Emily Olfson, Catherine E Cottrell, Nicholas O Davidson, Christina A Gurnett, Jonathan W Heusel, Nathan O Stitziel, Li-Shiun Chen, Sarah Hartz, Rakesh Nagarajan, Nancy L Saccone,[...]. PLoS One 2015
49

A protocol for the identification and validation of novel genetic causes of kidney disease.
Andrew Mallett, Chirag Patel, Barbara Maier, Julie McGaughran, Michael Gabbett, Minoru Takasato, Anne Cameron, Peter Trnka, Stephen I Alexander, Gopala Rangan,[...]. BMC Nephrol 2015
7

Management of Incidental Findings in Clinical Genomic Sequencing.
Joel B Krier, Robert C Green. Curr Protoc Hum Genet 2015
6

Illustrative case studies in the return of exome and genome sequencing results.
Laura M Amendola, Denise Lautenbach, Sarah Scollon, Barbara Bernhardt, Sawona Biswas, Kelly East, Jessica Everett, Marian J Gilmore, Patricia Himes, Victoria M Raymond,[...]. Per Med 2015
31

Assessing the Costs and Cost-Effectiveness of Genomic Sequencing.
Kurt D Christensen, Dmitry Dukhovny, Uwe Siebert, Robert C Green. J Pers Med 2015
58