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Paper Details

Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
Genome Med
75
2022
12,500 genes, Mendelian disease, Mendelian disorder, RNA, RNA-seq, disease genes, disease-associated genes, dominant disorders, genes, haploinsufficiency, mitochondrial disease, mono, patient, skin fibroblasts, splice-disrupting variants, transcriptomes, whole blood
Author NameAffiliation
Peter Freisinger
Susan J HayflickOregon Health & Science University
Yasushi OkazakiIntractable Disease Research Center, Juntendo University, Graduate School of Medicine
Yasushi OkazakiIntractable Disease Research Center, Juntendo University, Graduate School of Medicine
Thomas SchwarzmayrInstitute of Human Genetics, Technical University of Munich
Thomas SchwarzmayrInstitute of Neurogenomics
Tim M StromInstitute of Human Genetics, Technical University of Munich
Tim M StromInstitute of Neurogenomics
Fang FangBeijing Children's Hospital, Capital Medical University, National Center for Children's Health
Johannes A MayrUniversity Children's Hospital, Paracelsus Medical University Salzburg
Robert W TaylorTranslational and Clinical Research Institute, Newcastle University
Robert W TaylorRoyal Victoria Infirmary, Newcastle upon Tyne Hospitals NHS Foundation Trust
Thomas MeitingerInstitute of Human Genetics, Technical University of Munich
Thomas MeitingerInstitute of Human Genetics, Technical University of Munich
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