Author

Cristina Domínguez‐González

Research Institute Hospital 12 de OctubreORCID 0000-0001-5151-988XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetics· 1

Signature Assays, Organisms & Methods

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

Frequent Co-Authors

Abdulaziz Alsaman· 1 shared Ana TöpfiD· 1 shared Andrew R. FindlayiD· 1 shared Ankan Kumar BhadraiD· 1 shared Aurelio Hernández‐LaíniD· 1 shared Conrad Chris WeihliD· 1 shared Gianina RavenscroftiD· 1 shared Hayley Goullée· 1 shared

Activity by Year

2022-2022 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 45 mutual co-author links

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1 shared paperGenetics

Abdulaziz Alsaman

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1 paper

Recent·Most cited

GeneticsActa NeuropathologicaPeer-reviewedOct 20, 2022

Loss of function variants in DNAJB4 cause a myopathy with early respiratory failure

Conrad Chris Weihl, Ana Töpf, Rocío Bengoechea…·Volker W. Straub

The paper identifies DNAJB4 loss of function variants causing a myopathy with early respiratory failure through exome sequencing and functional studies.

30 citations

humanmouse