Last Updated: 09/26/2026
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Found 23 publications
Molecular features unique to circulating tumor DNA enable the tumor-naïve liquid biopsy of glioblastoma.
Journal: NPJ precision oncology
Published: October 25, 2025
The insidious degeneration of white matter and cognitive decline in Fabry disease.
Journal: PloS one
Published: May 12, 2025
Pathogenic UNC13A variants cause a neurodevelopmental syndrome by impairing synaptic function.
Journal: Nature genetics
Published: June 16, 2024
Clustered de novo start-loss variants in GLUL result in a developmental and epileptic encephalopathy via stabilization of glutamine synthetase.
Journal: American journal of human genetics
Published: December 19, 2023
Leveraging the Fragment Length of Circulating Tumour DNA to Improve Molecular Profiling of Solid Tumour Malignancies with Next-Generation Sequencing: A Pathway to Advanced Non-invasive Diagnostics in Precision Oncology?
Journal: Molecular diagnosis & therapy
Published: April 29, 2021
Detection of circulating tumor DNA without a tumor-informed search using next-generation sequencing is a prognostic biomarker in pancreatic ductal adenocarcinoma.
Journal: Neoplasia (New York, N.Y.)
Published: February 08, 2021
VPS4A Mutations in Humans Cause Syndromic Congenital Dyserythropoietic Anemia due to Cytokinesis and Trafficking Defects.
Journal: American journal of human genetics
Published: July 03, 2020
Heterozygous variants that disturb the transcriptional repressor activity of FOXP4 cause a developmental disorder with speech/language delays and multiple congenital abnormalities.
Journal: Genetics in medicine : official journal of the American College of Medical Genetics
Published: May 29, 2020
Somalier: rapid relatedness estimation for cancer and germline studies using efficient genome sketches.
Journal: Genome medicine
Published: December 11, 2019
Last Updated: 09/26/2026