Author
Seattle Children's HospitalORCID 0000-0001-9886-4082Unclaimed ORCID profile · follow to get notified of new preprints
Mutual co-authors in cluster
4 papers
Recent·Most cited
Christy W. LaFlamme, Cassandra Rastin, Soham Sengupta…·Heather C. Mefford
This study evaluates genome-wide DNA methylation analysis in genetically unsolved DEEs, identifying 10 causative or candidate genetic causes and refining a CHD2 episignature.
Helen Chen, Yong‐Dong Wang, Aidan W. Blan…·Heather C. Mefford
The paper develops a patient-derived cortical organoid model of UBA5-associated encephalopathy, identifies neurodevelopmental defects, and highlights potential therapeutic strategies.
Danny E. Miller, Arvis Sulovari, Tianyun Wang…·Evan E. Eichler
This paper introduces targeted long-read sequencing to identify complex structural variants and disease-causing mutations missed by conventional methods, improving diagnostic accuracy in genetic disorders.
Janel O. Johnson, Ruth Chia, Danny E. Miller…·Bryan J. Traynor
The paper identifies de-novo SPTLC1 mutations in juvenile ALS patients and suggests serine supplementation may alleviate symptoms.