publication venue for
- Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy. 7:18. 2022
- A recurrent SHANK3 frameshift variant in Autism Spectrum Disorder. 6:91. 2021
- Contribution of rare variant associations to neurodegenerative disease presentation. 6:80. 2021
- Genes and genomes and unnecessary complexity in precision medicine.. 5:21. 2020
- Genes and genomes and unnecessary complexity in precision medicine. 5:21. 2020
- A large data resource of genomic copy number variation across neurodevelopmental disorders. 4:26. 2019
- Reanalysing genomic data by normalized coverage values uncovers CNVs in bone marrow failure gene panels. 4:30. 2019
- User considerations in assessing pharmacogenomic tests and their clinical support tools. 3:26. 2018
- The clinical impact of copy number variants in inherited bone marrow failure syndromes. 2:18. 2017
- Variable phenotype expression in a family segregating microdeletions of the NRXN1 and MBD5 autism spectrum disorder susceptibility genes. 2:17. 2017
- Phenotypic profiling of CFTR modulators in patient-derived respiratory epithelia. 2. 2017
- Phenotypic profiling of CFTR modulators in patient-derived respiratory epithelia. 2:12. 2017
- Genome-wide characteristics of de novo mutations in autism. 1:160271-1602710. 2016
- Whole-genome sequencing expands diagnostic utility and improves clinical management in paediatric medicine. 1:15012-. 2016