Author

Martin Jakob Larsen

Odense University HospitalORCID 0000-0003-4107-8771Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 2 Neuroscience· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Research Focus:differential expression· 2 Approach:statistical model· 2 Assay:bulk RNA-seq· 1 Approach:experimental assay· 1

Frequent Co-Authors

Christina Ringmann FagerbergiD· 3 shared Maria Kibæk· 2 shared Mathilde NizoniD· 2 shared Abinayah JohniD· 1 shared Ada HamoshiD· 1 shared Alan H. BeggsiD· 1 shared Alice PoissoniD· 1 shared André ReisiD· 1 shared

Activity by Year

2021-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 33 mutual co-author links

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3 shared papersGenetic & Genomic Medicine

Christina Ringmann FagerbergORCID

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3 papers

Recent·Most cited

Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedJan 28, 2022

Expanding the genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder

Holly Melland, Fabian Bumbak, Anna Kolesnik…·Kate Baker

This study expands the known genotype and phenotype spectrum of SYT1-associated neurodevelopmental disorder by analyzing 22 individuals with de novo missense variants.

46 citationstop 3%

humanstatistical model

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NeuroscienceScientific ReportsPeer-reviewedJan 18, 2022

Mutations affecting the N-terminal domains of SHANK3 point to different pathomechanisms in neurodevelopmental disorders.

Daniel Woike, Emily Wang, Debora Tibbe…·Hans‐Jürgen Kreienkamp

The paper identifies a SHANK3 missense mutation linked to ADHD-like phenotype and shows it disrupts protein interactions critical for neurodevelopmental function.

15 citations

humanexperimental assay

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Genetic & Genomic MedicineGenetics in MedicinePeer-reviewedMar 3, 2021

Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior

Holly K. Harris, Tojo Nakayama, Jenny F. Lai…·Timothy W. Yu

The paper identifies RFX3, RFX4, and RFX7 mutations as causes of neurodevelopmental disorders including autism, ADHD, and intellectual disability, and links these genes to ASD risk genes through bioinformatic analysis.

84 citationstop 3%

humanbulk RNA-seq

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