Peter N Robinson
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Explore the profile of Peter N Robinson including associated specialties, affiliations and a list of published articles.
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314
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Recent Articles
1.
Chimirri L, Caufield J, Bridges Y, Matentzoglu N, Gargano M, Cazalla M, et al.
medRxiv
. 2025 Mar;
PMID: 40061308
Background: Large language models (LLMs) are increasingly used in the medical field for diverse applications including differential diagnostic support. The estimated training data used to create LLMs such as the...
2.
Matentzoglu N, Bello S, Stefancsik R, Alghamdi S, Anagnostopoulos A, Balhoff J, et al.
Genetics
. 2025 Mar;
PMID: 40048704
Phenotypic data are critical for understanding biological mechanisms and consequences of genomic variation, and are pivotal for clinical use cases such as disease diagnostics and treatment development. For over a...
3.
Cipriani V, Vestito L, Magavern E, Jacobsen J, Arno G, Behr E, et al.
Nature
. 2025 Feb;
PMID: 40011789
Up to 80% of rare disease patients remain undiagnosed after genomic sequencing, with many probably involving pathogenic variants in yet to be discovered disease-gene associations. To search for such associations,...
4.
Graefe A, Hubner M, Rehburg F, Sander S, Klopfenstein S, Alkarkoukly S, et al.
Sci Data
. 2025 Feb;
12(1):234.
PMID: 39922817
Although rare diseases (RDs) affect over 260 million individuals worldwide, low data quality and scarcity challenge effective care and research. This work aims to harmonise the Common Data Set by...
5.
Werren E, Kalsner L, Ewald J, Peracchio M, King C, Vats P, et al.
Am J Med Genet A
. 2025 Jan;
e64006.
PMID: 39876536
P21-activated kinase 2 (PAK2) is a serine/threonine kinase essential for a variety of cellular processes including signal transduction, cellular survival, proliferation, and migration. A recent report proposed monoallelic PAK2 variants...
6.
Shear M, Robinson P, Sparks T
Best Pract Res Clin Obstet Gynaecol
. 2024 Dec;
98:102575.
PMID: 39740319
Genetic tests available in the prenatal setting have expanded rapidly with next generation sequencing, and fetal imaging can detect a breadth of many structural and functional abnormalities. To identify a...
7.
Gliozzo J, Soto-Gomez M, Guarino V, Bonometti A, Cabri A, Cavalleri E, et al.
Artif Intell Med
. 2024 Dec;
160():103049.
PMID: 39673960
Multi-omics data have revolutionized biomedical research by providing a comprehensive understanding of biological systems and the molecular mechanisms of disease development. However, analyzing multi-omics data is challenging due to high...
8.
Karlebach G, Hansen P, Kohler K, Robinson P
NAR Genom Bioinform
. 2024 Dec;
6(4):lqae165.
PMID: 39660256
Gene Ontology overrepresentation analysis (GO-ORA) is a standard approach towards characterizing salient functional characteristics of sets of differentially expressed genes (DGE) in RNA sequencing (RNA-seq) experiments. GO-ORA compares the distribution...
9.
Hansen P, Blau H, Hecht J, Karlebach G, Krannich A, Steinhaus R, et al.
NAR Genom Bioinform
. 2024 Dec;
6(4):lqae156.
PMID: 39660253
Hi-C and capture Hi-C (CHi-C) both leverage paired-end sequencing of chimeric fragments to gauge the strength of interactions based on the total number of paired-end reads mapped to a common...
10.
Karlebach G, Steinhaus R, Danis D, Devoucoux M, Anczukow O, Sheynkman G, et al.
NPJ Genom Med
. 2024 Nov;
9(1):54.
PMID: 39496626
Numerous factors regulate alternative splicing of human genes at a co-transcriptional level. However, how alternative splicing depends on the regulation of gene expression is poorly understood. We leveraged data from...