Author

Arnold Münnich

Hôpital Necker-Enfants MaladesORCID 0000-0001-6117-7588Unclaimed 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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Organism:human· 2 Assay:bulk RNA-seq· 1 Research Focus:cell type annotation· 1 Research Focus:differential expression· 1 Approach:experimental assay· 1 Assay:metabolomics· 1 Approach:statistical model· 1

Frequent Co-Authors

Giulia BarciaiD· 2 shared Nathalie BoddaertiD· 2 shared Adolfo SaiardiiD· 1 shared Agnès RötigiD· 1 shared Benedetta RuzzenenteiD· 1 shared Catherine Fossoud· 1 shared Céline BanaliD· 1 shared Charles‐Joris RouxiD· 1 shared

Activity by Year

2020-2020 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 29 mutual co-author links

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2 shared papersGenetics

Giulia BarciaORCID

Mutual co-authors in cluster

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2 papers

Recent·Most cited

GeneticsNature CommunicationsPeer-reviewedNov 30, 2020

MINPP1 prevents intracellular accumulation of the cation chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

Ekin Ucuncu, Karthyayani Rajamani, Miranda Wilson…·Vincent Cantagrel

This study identifies MINPP1 mutations as a cause of Pontocerebellar Hypoplasia, showing that MINPP1 deficiency leads to IP6 accumulation and cation chelation, disrupting brain development.

62 citationstop 2%

humanbulk RNA-seq

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Genetic & Genomic MedicineEuropean Journal of Human GeneticsPeer-reviewedNov 9, 2020

Novel FARS2 mutations in patients with non-fatal early onset encephalopathy with or without epilepsy

Giulia Barcia, Marlène Rio, Zahra Assouline…·Benedetta Ruzzenente

The paper reports three novel compound heterozygous FARS2 mutations in patients with non-fatal early onset encephalopathy and epilepsy.

12 citations

human

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