Author

Jonas Denecke

University Medical Center Hamburg-EppendorfORCID 0000-0002-8228-4013Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:statistical model· 3 Organism:human· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Research Focus:gene regulatory network inference· 1 Research Focus:variant calling· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Christian KubischiD· 2 shared Davor LesseliD· 2 shared Maja HempeliD· 2 shared Tatjana BierhalsiD· 2 shared Adam JacksoniD· 1 shared Alexander P.A. StegmanniD· 1 shared Alexandra AfenjariD· 1 shared Ana Beleza‐MeirelesiD· 1 shared

Activity by Year

2017-2023 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Christian KubischORCID

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3 papers

Recent·Most cited

A Novel Autosomal Dominant Childhood-Onset Disorder Associated with Pathogenic Variants in VCP

Annelise Yoo Mah-Som, Jil Daw, Diana Huynh, Mengcheng Wu, Benjamin C. Creekmore, William Burns, Steven A. Skinner, Øystein L. Holla, Marie Falkenberg Smeland, Marc Planes, Kévin Uguen, Sylvia Redon, Tatjana Bierhals, Tasja Scholz, Jonas Denecke, , Marwan S. Shinawi

The paper identifies novel VCP variants causing a childhood-onset neurodevelopmental disorder through exome sequencing and functional analysis.

medRxiv · Jun 19, 2023 · PreprintGenetic & Genomic Medicine

Genotype-phenotype correlations and novel molecular insights into the DHX30-associated neurodevelopmental disorders

Ilaria Mannucci, Nghi Doan-Phuong Dang, Hannes Huber, Jaclyn B. Murry, Jeff Abramson, Thorsten Althoff, Siddharth Banka, Gareth S Baynam, David R. Bearden, Ana Beleza‐Meireles, Paul J. Benke, Siren Berland, Tatjana Bierhals, Frédéric Bilan, Laurence Albert Bindoff, , Davor Lessel

This study identifies 25 individuals with DHX30 mutations, showing two clinical subtypes based on variant type and severity of developmental and neurological symptoms.

Genome Medicine · May 21, 2021Peer-reviewedGenetic & Genomic Medicine

Survival Beyond the Perinatal Period Expands the Phenotypes Caused by Mutations in GLE1

Edith Said, Jessica X. Chong, Maja Hempel, Jonas Denecke, Paul Soler, Tim Matthias Strom, Deborah A. Nickerson, Christian Kubisch, Michael J. Bamshad, Davor Lessel

The paper reports two individuals with GLE1 mutations surviving beyond the perinatal period, expanding the phenotype of LAAHD to include childhood survival.

American Journal of Medical Genetics Part A · Sep 8, 2017Peer-reviewedGenetics