Genetics in Medicine Open (Jan 2024)
P750: Clinical validation of transcriptome analysis for the diagnosis of Mendelian disorders
- Kristina Macakova,
- Jefferson Sinson,
- Sen Zhao,
- Hongzheng Dai,
- Jill Rosenfeld,
- Gladys Zapata,
- Shenglan Li,
- Patricia Ward,
- Christiana Wang,
- Chunjing Qu,
- Becky Maywald,
- Undiagnosed Disease Network,
- Brendan Lee,
- Christine Eng,
- Pengfei Liu
Affiliations
- Kristina Macakova
- Graduate Program in Diagnostic Genetics and Genomics, The University of Texas MD Anderson Cancer Center School of Health Professions, Baylor College of Medicine
- Jefferson Sinson
- Baylor College of Medicine
- Sen Zhao
- Baylor College of Medicine
- Hongzheng Dai
- Baylor College of Medicine, Baylor Genetics
- Jill Rosenfeld
- Baylor College of Medicine
- Gladys Zapata
- Baylor College of Medicine
- Shenglan Li
- Baylor College of Medicine
- Patricia Ward
- Baylor College of Medicine, Baylor Genetics
- Christiana Wang
- Baylor College of Medicine
- Chunjing Qu
- Baylor Genetics
- Becky Maywald
- Baylor College of Medicine
- Undiagnosed Disease Network
- Undiagnosed Disease Network
- Brendan Lee
- Baylor College of Medicine
- Christine Eng
- Baylor College of Medicine, Baylor Genetics
- Pengfei Liu
- Baylor College of Medicine, Baylor Genetics
- Journal volume & issue
-
Vol. 2
p. 101654