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



Caroline F Wright, Jeremy F McRae, Stephen Clayton, Giuseppe Gallone, Stuart Aitken, Tomas W FitzGerald, Philip Jones, Elena Prigmore, Diana Rajan, Jenny Lord, Alejandro Sifrim, Rosemary Kelsell, Michael J Parker, Jeffrey C Barrett, Matthew E Hurles, David R FitzPatrick, Helen V Firth. Genet Med 2018
Times Cited: 160




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

Re-analysis of genomic data: An overview of the mechanisms and complexities of clinical adoption.
Alan J Robertson, Natalie B Tan, Amanda B Spurdle, Alejandro Metke-Jimenez, Clair Sullivan, Nicola Waddell. Genet Med 2022
3

PhenomeCentral: 7 years of rare disease matchmaking.
Matthew Osmond, Taila Hartley, Brittney Johnstone, Sasha Andjic, Marta Girdea, Meredith Gillespie, Orion Buske, Sergiu Dumitriu, Veronika Koltunova, Arun Ramani,[...]. Hum Mutat 2022
4

The RD-Connect Genome-Phenome Analysis Platform: Accelerating diagnosis, research, and gene discovery for rare diseases.
Steven Laurie, Davide Piscia, Leslie Matalonga, Alberto Corvó, Marcos Fernández-Callejo, Carles Garcia-Linares, Carles Hernandez-Ferrer, Cristina Luengo, Inés Martínez, Anastasios Papakonstantinou,[...]. 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

Genome Alert!: A standardized procedure for genomic variant reinterpretation and automated gene-phenotype reassessment in clinical routine.
Kevin Yauy, François Lecoquierre, Stéphanie Baert-Desurmont, Detlef Trost, Aicha Boughalem, Armelle Luscan, Jean-Marc Costa, Vanna Geromel, Laure Raymond, Pascale Richard,[...]. Genet Med 2022
1

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

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

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