Jonathan Z. Luo

发表

Trajectory of exonic variant discovery in a large clinical population: implications for variant curation

M. Murray, D. Carey, K. Manickam, 2018, Genetics in Medicine.

Functional Invalidation of Putative Sudden Infant Death Syndrome–Associated Variants in the KCNH2-Encoded Kv11.1 Channel

Dustin N. Hartzel, C. January, M. Murray, 2018, Circulation. Arrhythmia and electrophysiology.

Whole-Exome Sequencing in Adults With Chronic Kidney Disease

Kevin Ho, Alex R. Chang, Jonathan Z. Luo, 2018, Annals of Internal Medicine.

Multiancestry exome sequencing reveals INHBE mutations associated with favorable fat distribution and protection from diabetes

Johnathon R. Walls, Mary E. Haas, R. Collins, 2022, Nature Communications.

Exome Sequencing of a Clinical Population for Autosomal Dominant Polycystic Kidney Disease.

Alexander R. Chang, Jonathan Z. Luo, T. Mirshahi, 2022, JAMA.

Electronic health record analysis identifies kidney disease as the leading risk factor for hospitalization in confirmed COVID-19 patients

Dustin N. Hartzel, D. Ledbetter, H. Kirchner, 2020, PloS one.

A Protein‐Truncating HSD17B13 Variant and Protection from Chronic Liver Disease

Alexander E. Lopez, Tanya M. Teslovich, Alexander Hanbo Li, 2018, The New England journal of medicine.

ALG9 Mutation Carriers Develop Kidney and Liver Cysts.

Dustin N. Hartzel, S. Mane, S. Somlo, 2019, Journal of the American Society of Nephrology : JASN.

Large scale clinical exome sequencing uncovers the scope and severity of skin disorders associated with MC1R genetic variants

Ann N. Stepanchick, Jonathan Z. Luo, T. Mirshahi, 2021, Genetics in Medicine.

Arrhythmia Variant Associations and Reclassifications in the eMERGE-III Sequencing Study

Joseph T. Glessner, J. Glessner, H. Hakonarson, 2021, medRxiv.

Diagnostic Utility of Exome Sequencing for Polycystic Kidney Disease

M. Taher, Jonathan Z. Luo, T. Mirshahi, 2022, medRxiv.