Xiao Chen

Spinal muscular atrophy diagnosis and carrier screening from whole-genome sequencing data

Courtney E. French, D. Bentley, M. Eberle, 2020 .

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Courtney E. French, A. Halpern, D. Bentley, 2019, Genetics in Medicine.

The Effect of SMN Gene Dosage on ALS Risk and Disease Severity

M. Eberle, A. Al-Chalabi, P. Andersen, 2021, Annals of neurology.

Comprehensive SMN1 and SMN2 profiling for spinal muscular atrophy analysis using long-read PacBio HiFi sequencing

A. Hoischen, M. Eberle, E. Farrow, 2022, bioRxiv.

Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson’s disease-associated GBA gene

Sonja W. Scholz, M. Eberle, F. Sedlazeck, 2022, Communications Biology.

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Courtney E. French, D. Bentley, M. Eberle, 2019 .

Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease

M. Eberle, F. Sedlazeck, A. Schapira, 2021, Movement disorders : official journal of the Movement Disorder Society.

Cyrius: accurate CYP2D6 genotyping using whole-genome sequencing data

Xiao Chen, Fei Shen, Michael A Eberle, 2020, The Pharmacogenomics Journal.

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Courtney E. French, A. Halpern, D. Bentley, 2020, Genetics in Medicine.

Spinal muscular atrophy diagnosis and carrier screening from genome sequencing data

Courtney E. French, M. Eberle, Z. Kingsbury, 2020 .