Omid Paknia

Clinical exome sequencing: results from 2819 samples reflecting 1000 families

Daniel Trujillano, Aida M. Bertoli‐Avella, Krishna Kumar Kandaswamy et al. · European Journal of Human Genetics · 2016 · 361 citations · Full text

Wes Processes, Genetics, Genetic Epidemiology +21

Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort

Aida M. Bertoli‐Avella, Christian Beetz, Najim Ameziane et al. · European Journal of Human Genetics · 2020 · 115 citations · Full text

The marker choice: Unexpected resolving power of an unexplored CO1 region for layered DNA barcoding approaches

Jessica Rach, Tjard Bergmann, Omid Paknia et al. · PLoS ONE · 2017 · 45 citations · Full text

Comparative Genomics, Genetics, Dna Analysis +25

Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population

Peter Bauer, Krishna Kumar Kandaswamy, Maximilian E. R. Weiss et al. · Genetics in Medicine · 2018 · 45 citations · Full text

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility

Huma Arshad Cheema, Aida M. Bertoli‐Avella, Volha Skrahina et al. · npj Genomic Medicine · 2020 · 42 citations · Full text