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Biorxiv : the Preprint Server for Biology|January 27, 2025
LARP6 regulates the mRNA translation of fibrogenic genes in liver fibrosisHyun Young Kim, Orel Mizrahi, Wonseok Lee, et al.
Cell Systems|April 23, 2026
Comprehensive RNA-binding protein analyses and deep learning uncover genetic constraints and disease associations in protein-RNA interfacesHsuan-Lin Her, Brian A Yee, Shuhao Xu, et al.
Pigment Cell & Melanoma Research|July 23, 2015
Identification and functional characterization of natural human melanocortin 1 receptor mutant alleles in Pakistani populationMohsin Shahzad, Julia Sires Campos, Nabeela Tariq, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Identification of clinically actionable variants from genome sequencing of families with congenital heart diseaseDimuthu Alankarage, Eddie Ip, Justin O Szot, et al.
Genome Medicine|October 14, 2024
A validated heart-specific model for splice-disrupting variants in childhood heart diseaseRobert Lesurf, Jeroen Breckpot, Jade Bouwmeester, et al.
HGG Advances|July 7, 2025
Haploinsufficient variants in SMAD5 are associated with isolated congenital heart diseaseDimuthu Alankarage, Iryna Leshchynska, Stephanie Portelli, et al.
The Journal of Clinical Investigation|February 26, 2026
RNA-binding protein LARP6 coordinates hepatic stellate cell activation and liver fibrosisHyun Young Kim, Orel Mizrahi, Wonseok Lee, et al.
Nature Communications|November 4, 2021
Gain-of-function cardiomyopathic mutations in RBM20 rewire splicing regulation and re-distribute ribonucleoprotein granules within processing bodiesAidan M Fenix, Yuichiro Miyaoka, Alessandro Bertero, et al.
Neuron|November 1, 2024
Inhibition of RNA splicing triggers CHMP7 nuclear entry, impacting TDP-43 function and leading to the onset of ALS cellular phenotypesNorah Al-Azzam, Jenny H To, Vaishali Gautam, et al.
Human Molecular Genetics|December 10, 2019
Functional genomics and gene-environment interaction highlight the complexity of congenital heart disease caused by Notch pathway variantsGavin Chapman, Julie L M Moreau, Eddie I P, et al.
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