Author

Anna Ardissone

Fondazione IRCCS Istituto Neurologico Carlo BestaORCID 0000-0003-1969-0147Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1

Signature Assays, Organisms & Methods

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Research Focus:database / resource· 1 Research Focus:differential expression· 1 Organism:human· 1 Approach:statistical model· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Agnès RötigiD· 1 shared Akira OhtakeiD· 1 shared Albert Zishen LimiD· 1 shared Angela PyleiD· 1 shared Antònia RibesiD· 1 shared Bader AlhaddadiD· 1 shared Boriana BüchneriD· 1 shared Charlotte L. AlstoniD· 1 shared

Activity by Year

2021-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Agnès RötigORCID

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1 paper

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 21, 2021

Diagnosing pediatric mitochondrial disease: lessons from 2,000 exomes

Sarah L. Stenton, Masaru Shimura, Dorota Piekutowska‐Abramczuk…·Holger Prokisch

This study analyzes 2,023 pediatric exomes to diagnose mitochondrial disease, identifying 1,109 molecular diagnoses and 62 novel disease genes through exome sequencing and functional studies.

11 citations

humanwhole-exome sequencing

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