Author

Klaus D. Dieterich

Centre Hospitalier Universitaire de GrenobleORCID 0000-0002-4362-4062Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Approach:statistical model· 2 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:protein structure prediction· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Yline CapriiD· 2 shared Abdelamdjid Benmansour· 1 shared Alain VerloèsiD· 1 shared Albert David· 1 shared Alexandra AfenjariD· 1 shared Alexandre MathieuiD· 1 shared Anju ShuklaiD· 1 shared Anne‐Claude TabetiD· 1 shared

Activity by Year

2017-2020 · peak 1/yr

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10 top collaborators · 37 mutual co-author links

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2 shared papersGenetics

Yline CapriORCID

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2 papers

Recent·Most cited

GeneticsThe American Journal of Human GeneticsPeer-reviewedJul 23, 2020

Mutations in MYLPF cause a novel segmental amyoplasia that manifests as distal arthrogryposis

Jessica X. Chong, Jared Coffin Talbot, Emily M. Teets…·Michael J. Bamshad

The paper identifies mutations in MYLPF causing segmental amyoplasia with distal arthrogryposis, showing both dominant and recessive inheritance patterns and linking MYLPF impairment to muscle degeneration.

34 citations

humanzebrafish

𝕏 PostBluesky

GeneticsbioRxivPreprintMar 18, 2017

A framework to identify modifier genes in patients with Phelan-McDermid syndrome

Anne‐Claude Tabet, Thomas Rolland, Marie Ducloy…·Thomas Bourgeron

This study identifies modifier genes in Phelan-McDermid syndrome patients by analyzing 22q13 rearrangements and their association with clinical features.

1 citation

humanstatistical model

𝕏 PostBluesky