Author

Charlotte A. Haaxma

Radboud University NijmegenORCID 0000-0002-0682-345XUnclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:zebrafish· 2 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Research Focus:gene regulatory network inference· 1 Organism:human· 1 Approach:statistical model· 1 Organism:yeast· 1

Frequent Co-Authors

Anne Michele SlavotinekiD· 2 shared Adam JacksoniD· 1 shared Alexander P.A. StegmanniD· 1 shared Ambro van HoofiD· 1 shared Ana Beleza‐MeirelesiD· 1 shared Anita H. CorbettiD· 1 shared Billur Moghaddam· 1 shared Boris KereniD· 1 shared

Activity by Year

2020-2021 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 31 mutual co-author links

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2 shared papersGenetic & Genomic Medicine

Anne Michele SlavotinekORCID

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2 papers

Recent·Most cited

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

Biallelic variants in the RNA exosome gene EXOSC5 are associated with developmental delays, short stature, cerebellar hypoplasia and motor weakness

Anne Michele Slavotinek, Doriana Misceo, Stephanie Htun, Linda Mathisen, Eirik Frengen, Michelle Foreman, Jennifer E. Hurtig, Liz Enyenihi, Maria C. Sterrett, Sara W. Leung, Dina Schneidman‐Duhovny, Juvianee I. Estrada‐Veras, Jacque L. Duncan, Charlotte A. Haaxma, Erik‐Jan Kamsteeg, , Anita H. Corbett

The paper reports three patients with biallelic EXOSC5 variants causing developmental delays, short stature, and cerebellar hypoplasia, and shows functional defects in RNA exosome activity.

Human Molecular Genetics · Jun 1, 2020Peer-reviewedGenetics