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Disease Markers|February 25, 2021
Next Generation Exome Sequencing of Pediatric Asthma Identifies Rare and Novel Variants in Candidate GenesNeda M Bogari, Amr A Amin, Husni H Rayes, et al.
Scientific Reports|March 1, 2019
Comprehensive sequencing of the myocilin gene in a selected cohort of severe primary open-angle glaucoma patientsLuke O'Gorman, Angela J Cree, Daniel Ward, et al.
Stem Cell Research|February 5, 2022
Generation of a patient-derived induced pluripotent cell line (SCTCi016-A) carrying a homozygous variant in RPE65Irene Vázquez-Domínguez, Michael Kwint, Hester Y Kroes, et al.
NPJ Genomic Medicine|April 22, 2025
Long-read technologies identify a hidden LINE-1/ERV1 insertion in IQCB1 as causative variant for Senior-Løken syndromeSuzanne E de Bruijn, L Ingeborgh van den Born, Ronny Derks, et al.
Plos Genetics|August 14, 2023
Exome sequencing identified rare recurrent copy number variants and hereditary breast cancer susceptibilityTimo A Kumpula, Sandra Vorimo, Taneli T Mattila, et al.
Molecular Oncology|August 7, 2026
Intrapatient tumour heterogeneity and clonal evolution in an autopsy study of metastatic salivary gland cancerGerben Lassche, Niels J van Ruitenbeek, Charlotte Adang, et al.
European Journal of Pharmaceutical Sciences : Official Journal of the European Federation for Pharmaceutical Sciences|August 18, 2024
Human enteroid monolayers as a potential alternative for Ussing chamber and Caco-2 monolayers to study passive permeability and drug effluxEva J Streekstra, Marit Keuper-Navis, Jeroen J M W van den Heuvel, et al.
Genome Medicine|May 9, 2023
Comprehensive de novo mutation discovery with HiFi long-read sequencingErdi Kucuk, Bart P G H van der Sanden, Luke O'Gorman, et al.
Scientific Reports|September 15, 2019
A small gene sequencing panel realises a high diagnostic rate in patients with congenital nystagmus following basic phenotypingLuke O'Gorman, Chelsea S Norman, Luke Michaels, et al.
Scientific Reports|July 2, 2017
Identification of a functionally significant tri-allelic genotype in the Tyrosinase gene (TYR) causing hypomorphic oculocutaneous albinism (OCA1B)Chelsea S Norman, Luke O'Gorman, Jane Gibson, et al.
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