Associated Papers
Genotyping as Part of Routine Clinical Care-The Outcomes for a Large Paediatric Vascular Anomaly Cohort.
O'Sullivan S et al.
American Journal of Medical Genetics. Part A, 2025
Phase separation as a possible mechanism for dosage sensitivity.
Yang L et al.
Genome Biology, 2024
38225666 (PubMed )
Supplement: 13059_2023_3128_MOESM3_ESM.xlsx › NMD_mutations
Actionability of unanticipated monogenic disease risks in newborn genomic screening: Findings from the BabySeq Project.
Green RC et al.
American Journal of Human Genetics, 2023
A case of familial glomuvenous malformation with report of a novel genetic mutation.
Esteves M et al.
International Journal of Dermatology, 2020
Interpretation of Genomic Sequencing Results in Healthy and Ill Newborns: Results from the BabySeq Project.
Ceyhan-Birsoy O et al.
American Journal of Human Genetics, 2019
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