A citation-based method for searching scientific literature

Anthony A Philippakis, Danielle R Azzariti, Sergi Beltran, Anthony J Brookes, Catherine A Brownstein, Michael Brudno, Han G Brunner, Orion J Buske, Knox Carey, Cassie Doll, Sergiu Dumitriu, Stephanie O M Dyke, Johan T den Dunnen, Helen V Firth, Richard A Gibbs, Marta Girdea, Michael Gonzalez, Melissa A Haendel, Ada Hamosh, Ingrid A Holm, Lijia Huang, Matthew E Hurles, Ben Hutton, Joel B Krier, Andriy Misyura, Christopher J Mungall, Justin Paschall, Benedict Paten, Peter N Robinson, François Schiettecatte, Nara L Sobreira, Ganesh J Swaminathan, Peter E Taschner, Sharon F Terry, Nicole L Washington, Stephan Züchner, Kym M Boycott, Heidi L Rehm. Hum Mutat 2015
Times Cited: 274



Michelle M Clark, Zornitza Stark, Lauge Farnaes, Tiong Y Tan, Susan M White, David Dimmock, Stephen F Kingsmore. NPJ Genom Med 2018
Times Cited: 234




List of shared articles



Times cited

Lessons learnt from multifaceted diagnostic approaches to the first 150 families in Victoria's Undiagnosed Diseases Program.
Thomas Cloney, Lyndon Gallacher, Lynn S Pais, Natalie B Tan, Alison Yeung, Zornitza Stark, Natasha J Brown, George McGillivray, Martin B Delatycki, Michelle G de Silva,[...]. J Med Genet 2022
1

A clinician's guide to omics resources in dermatology.
Brent J Doolan, John A McGrath, Alexandros Onoufriadis. Clin Exp Dermatol 2022
0

Genomics4RD: An integrated platform to share Canadian deep-phenotype and multiomic data for international rare disease gene discovery.
Hannah G Driver, Taila Hartley, E Magda Price, Andrei L Turinsky, Orion J Buske, Matthew Osmond, Arun K Ramani, Emily Kirby, Kristin D Kernohan, Madeline Couse,[...]. Hum Mutat 2022
2

A guide for the diagnosis of rare and undiagnosed disease: beyond the exome.
Shruti Marwaha, Joshua W Knowles, Euan A Ashley. Genome Med 2022
6

seqr: A web-based analysis and collaboration tool for rare disease genomics.
Lynn S Pais, Hana Snow, Ben Weisburd, Shifa Zhang, Samantha M Baxter, Stephanie DiTroia, Emily O'Heir, Eleina England, Katherine R Chao, Gabrielle Lemire,[...]. Hum Mutat 2022
2

Best practices for the interpretation and reporting of clinical whole genome sequencing.
Christina A Austin-Tse, Vaidehi Jobanputra, Denise L Perry, David Bick, Ryan J Taft, Eric Venner, Richard A Gibbs, Ted Young, Sarah Barnett, John W Belmont,[...]. NPJ Genom Med 2022
1

Singapore Undiagnosed Disease Program: Genomic Analysis aids Diagnosis and Clinical Management.
Neha S Bhatia, Jiin Ying Lim, Carine Bonnard, Jyn-Ling Kuan, Maggie Brett, Heming Wei, Breana Cham, Huilin Chin, Celia Bosso-Lefevre, Perumal Dharuman,[...]. Arch Dis Child 2021
6

Genetic Testing in Neurodevelopmental Disorders.
Juliann M Savatt, Scott M Myers. Front Pediatr 2021
34

Strategies to Uplift Novel Mendelian Gene Discovery for Improved Clinical Outcomes.
Eleanor G Seaby, Heidi L Rehm, Anne O'Donnell-Luria. Front Genet 2021
5

Interest of exome sequencing trio-like strategy based on pooled parental DNA for diagnosis and translational research in rare diseases.
Frederic Tran Mau-Them, Yannis Duffourd, Antonio Vitobello, Ange-Line Bruel, Anne-Sophie Denommé-Pichon, Sophie Nambot, Julian Delanne, Sebastien Moutton, Arthur Sorlin, Victor Couturier,[...]. Mol Genet Genomic Med 2021
1

GA4GH: International policies and standards for data sharing across genomic research and healthcare.
Heidi L Rehm, Angela J H Page, Lindsay Smith, Jeremy B Adams, Gil Alterovitz, Lawrence J Babb, Maxmillian P Barkley, Michael Baudis, Michael J S Beauvais, Tim Beck,[...]. Cell Genom 2021
19

New Diagnostic Approaches for Undiagnosed Rare Genetic Diseases.
Taila Hartley, Gabrielle Lemire, Kristin D Kernohan, Heather E Howley, David R Adams, Kym M Boycott. Annu Rev Genomics Hum Genet 2020
24

Genomic Data Sharing for Novel Mendelian Disease Gene Discovery: The Matchmaker Exchange.
Danielle R Azzariti, Ada Hamosh. Annu Rev Genomics Hum Genet 2020
23