Author

Sam Loughlin

Great Ormond Street Hospital for Children NHS Foundation Trust

Listed by name: these papers carry no ORCID for this author, so different people with the same name may be mixed together.

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genetics· 1 Genomics· 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 Research Focus:gene regulatory network inference· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Aguilera Paula· 1 shared Alain FischeriD· 1 shared Alain Lefèvre‐UtileiD· 1 shared Alan Michael PittmaniD· 1 shared Alexander Antipenko· 1 shared Alexandre BolzeiD· 1 shared Alison M. MaleiD· 1 shared Amir BahreiniiD· 1 shared

Activity by Year

2018-2024 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 17 mutual co-author links

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Curved chords = mutual co-authorship

1 shared paperGenomics

Aguilera Paula

Mutual co-authors in cluster

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3 papers

Recent·Most cited

Genetic & Genomic MedicinemedRxivPreprintFeb 9, 2024

Biallelic variation in the choline and ethanolamine transporter FLVCR1 underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders

Daniel G. Calame, Jovi Huixin Wong, Puravi Panda…·Long Nam Nguyen

The paper identifies biallelic FLVCR1 variants causing a range of neurodevelopmental and neurodegenerative disorders, linking them to choline and ethanolamine transport dysfunction.

3 citations

humanwhole-exome sequencing

𝕏 PostBluesky

GenomicsGenetics in MedicinePeer-reviewedJun 18, 2021

Inherited duplications of PPP2R3B promote naevi and melanoma via a novel C21orf91-driven proliferative phenotype

Satyamaanasa Polubothu, Lara Al-Olabi, Daniël A. Lionarons…·Veronica A. Kinsler

This study identifies inherited PPP2R3B duplications as a melanoma predisposing factor, revealing a C21orf91-driven proliferative phenotype in melanocytes.

7 citations

humanbulk RNA-seq

𝕏 PostBluesky

GeneticsProceedings of the National Academy of SciencesPeer-reviewedAug 2, 2018

Incomplete penetrance for isolated congenital asplenia in humans with mutations in translated and untranslated RPSA exons

Alexandre Bolze, Bertrand Boisson, Barbara Bosch…·Jean‐Laurent Casanova

The paper reports new RPSA mutations causing isolated congenital asplenia, including 5-UTR mutations and incomplete penetrance in some cases.

44 citations

human

𝕏 PostBluesky