Lyndon Gallacher

Genome Sequencing for Diagnosing Rare Diseases

Monica H. Wojcik, Gabrielle Lemire, Eva Berger et al. · New England Journal of Medicine · 2024 · 144 citations · Full text

Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variants

Adam Bournazos, Lisa G. Riley, Shobhana Bommireddipalli et al. · Genetics in Medicine · 2021 · 99 citations

Medicine, Genetics, Rna Splicing +11

De novo variants in the RNU4-2 snRNA cause a frequent neurodevelopmental syndrome

Yuyang Chen, Ruebena Dawes, Hyung Chul Kim et al. · Nature · 2024 · 93 citations · Full text

SPEN haploinsufficiency causes a neurodevelopmental disorder overlapping proximal 1p36 deletion syndrome with an episignature of X chromosomes in females

Francesca Clementina Radio, Kaifang Pang, Andrea Ciolfi et al. · The American Journal of Human Genetics · 2021 · 80 citations · Full text

Down Syndrome, Deletion Syndrome, Developmental Biology +11

Genetic counseling in pediatric acute care: Reflections on ultra‐rapid genomic diagnoses in neonates

Samantha Ayres, Lyndon Gallacher, Zornitza Stark et al. · Journal of Genetic Counseling · 2019 · 53 citations