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



Jennifer E Posey, Tamar Harel, Pengfei Liu, Jill A Rosenfeld, Regis A James, Zeynep H Coban Akdemir, Magdalena Walkiewicz, Weimin Bi, Rui Xiao, Yan Ding, Fan Xia, Arthur L Beaudet, Donna M Muzny, Richard A Gibbs, Eric Boerwinkle, Christine M Eng, V Reid Sutton, Chad A Shaw, Sharon E Plon, Yaping Yang, James R Lupski. N Engl J Med 2017
Times Cited: 391




List of shared articles



Times cited

Methods to Improve Molecular Diagnosis in Genomic Cold Cases in Pediatric Neurology.
Magda K Kadlubowska, Isabelle Schrauwen. Genes (Basel) 2022
0

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

Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome.
Sarah E M Stephenson, Gregory Costain, Laura E R Blok, Michael A Silk, Thanh Binh Nguyen, Xiaomin Dong, Dana E Alhuzaimi, James J Dowling, Susan Walker, Kimberly Amburgey,[...]. Am J Hum Genet 2022
0

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

Variants in PHF8 cause a spectrum of X-linked neurodevelopmental disorders and facial dysmorphology.
Andrew K Sobering, Laura M Bryant, Dong Li, Julie McGaughran, Isabelle Maystadt, Stephanie Moortgat, John M Graham, Arie van Haeringen, Claudia Ruivenkamp, Roos Cuperus,[...]. HGG Adv 2022
0

How to proceed after "negative" exome: A review on genetic diagnostics, limitations, challenges, and emerging new multiomics techniques.
Saskia B Wortmann, Machteld M Oud, Mariëlle Alders, Karlien L M Coene, Saskia N van der Crabben, René G Feichtinger, Alejandro Garanto, Alex Hoischen, Mirjam Langeveld, Dirk Lefeber,[...]. J Inherit Metab Dis 2022
0

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