(Un)standardized testing: the diagnostic odyssey of children with rare genetic disorders in Alberta, Canada

Estimating cumulative point prevalence of rare diseases: analysis of the Orphanet database

Stéphanie Nguengang Wakap, Deborah M. Lambert, Annie Olry et al. · European Journal of Human Genetics · 2019 · 1.8K citations · Full text

Public Health, Health Sciences, Population Health Sciences +16

Effectiveness of exome and genome sequencing guided by acuity of illness for diagnosis of neurodevelopmental disorders

Sarah Soden, Carol Saunders, Laurel K. Willig et al. · Science Translational Medicine · 2014 · 532 citations

Life Sciences, Genetics, Pediatrics +6

Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine

Dimitri J. Stavropoulos, Daniele Merico, Rebekah Jobling et al. · npj Genomic Medicine · 2016 · 377 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions

Tiong Yang Tan, Oliver James Dillon, Zornitza Stark et al. · JAMA Pediatrics · 2017 · 327 citations

Life Sciences, Genetics, Pediatrics +17

The utility of the traditional medical genetics diagnostic evaluation in the context of next-generation sequencing for undiagnosed genetic disorders

Vandana Shashi, Allyn McConkie‐Rosell, Bruce Rosell et al. · Genetics in Medicine · 2013 · 293 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16