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Nature Communications|March 8, 2025
Genome-wide profiling of highly similar paralogous genes using HiFi sequencingXiao Chen, Daniel Baker, Egor Dolzhenko, et al.
Brain : a Journal of Neurology|December 21, 2023
Biallelic BORCS8 variants cause an infantile-onset neurodegenerative disorder with altered lysosome dynamicsRaffaella De Pace, Reza Maroofian, Adeline Paimboeuf, et al.
Human Mutation|February 11, 2017
Matchmaking facilitates the diagnosis of an autosomal-recessive mitochondrial disease caused by biallelic mutation of the tRNA isopentenyltransferase (TRIT1) geneKristin D Kernohan, David A Dyment, Mihaela Pupavac, et al.
BMJ Open|February 3, 2025
Pathway Of Low Anterior Resection syndrome (LARS) relief after Surgery (POLARiS): protocol for an international, open-label, multi-arm, phase 3 randomised superiority trial within a cohort, with economic evaluation, process evaluation and qualitative sub-study, to explore the natural history of LARS and compare transanal irrigation and sacral neuromodulation to optimised conservative management for people with major LARS following a high or low anterior resection for colorectal cancerJulie Croft, Emily Farrow, Alexandra Harriet Coxon-Meggy, et al.
Nature Biotechnology|January 3, 2024
Characterization and visualization of tandem repeats at genome scaleEgor Dolzhenko, Adam English, Harriet Dashnow, et al.
Nature Communications|May 29, 2023
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohortWarren A Cheung, Adam F Johnson, William J Rowell, et al.
American Journal of Human Genetics|September 27, 2016
Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset EncephalopathyElisabetta Flex, Marcello Niceta, Serena Cecchetti, et al.
American Journal of Human Genetics|April 17, 2018
Dual Molecular Effects of Dominant RORA Mutations Cause Two Variants of Syndromic Intellectual Disability with Either Autism or Cerebellar AtaxiaClaire Guissart, Xenia Latypova, Paul Rollier, et al.
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