Author

Pavel N. Pichurin

Mayo ClinicORCID 0000-0002-6336-136XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2

Signature Assays, Organisms & Methods

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Organism:human· 2 Research Focus:differential expression· 1 Approach:statistical model· 1

Frequent Co-Authors

Alban C. ZiegleriD· 1 shared Alexander P.A. StegmanniD· 1 shared Alice GardhamiD· 1 shared Alice GoldenbergiD· 1 shared Amber Hogart BegtrupiD· 1 shared Andrea CiolfiiD· 1 shared Anita M. RauchiD· 1 shared Anne‐Marie GuerrotiD· 1 shared

Activity by Year

2022-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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1 shared paperGenetic & Genomic Medicine

Alban C. ZieglerORCID

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2 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintJun 13, 2023

Loss-of-function variants in CUL3 cause a syndromic neurodevelopmental disorder

Patrick R. Blackburn, Frédéric Ebstein, Tzung‐Chien Hsieh…·Tianyun Wang

The paper reports a cohort of 35 individuals with CUL3 variants causing a syndromic neurodevelopmental disorder, showing loss-of-function variants disrupt protein homeostasis by impairing proteasomal degradation of CUL3 substrates.

9 citations

humanstatistical model

𝕏 PostBluesky

Genetic & Genomic MedicineNature GeneticsPeer-reviewedOct 1, 2022

Defective X-gating caused by de novo gain-of-function mutations in KCNK3 underlies a developmental disorder with sleep apnea

Janina Sörmann, Marcus Schewe, Peter Proks…·Stephen J. Tucker

The paper identifies de novo gain-of-function mutations in KCNK3 causing a developmental disorder with sleep apnea by disrupting X-gating of TASK-1 channels.

30 citations

𝕏 PostBluesky