标题/作者	年份
Single-nucleus cross-tissue molecular reference maps toward understanding disease gene function G Eraslan, E Drokhlyansky, S Anand, E Fiskin, A Subramanian, M Slyper, ... Science 376 (6594), eabl4290	2022
Genetics of mitochondrial diseases: Identifying mutations to help diagnosis SL Stenton, H Prokisch EBioMedicine 56	2020
Diagnostic utility of transcriptome sequencing for rare Mendelian diseases H Lee, AY Huang, L Wang, AJ Yoon, G Renteria, A Eskin, RH Signer, ... Genetics in Medicine 22 (3), 490-499	2020
Blood RNA analysis can increase clinical diagnostic rate and resolve variants of uncertain significance HA Wai, J Lord, M Lyon, A Gunning, H Kelly, P Cibin, EG Seaby, ... Genetics in Medicine 22 (6), 1005-1014	2020
Genetic regulatory variation in populations informs transcriptome analysis in rare disease P Mohammadi, SE Castel, BB Cummings, J Einson, C Sousa, P Hoffman, ... Science 366 (6463), 351-356	2019
Transcriptome-directed analysis for Mendelian disease diagnosis overcomes limitations of conventional genomic testing DR Murdock, H Dai, LC Burrage, JA Rosenfeld, S Ketkar, MF Müller, ... The Journal of clinical investigation 131 (1)	2021
Prospective, phenotype-driven selection of critically ill neonates for rapid exome sequencing is associated with high diagnostic yield CS Gubbels, GE VanNoy, JA Madden, D Copenheaver, S Yang, ... Genetics in Medicine 22 (4), 736-744	2020
Detection of aberrant splicing events in RNA-seq data using FRASER C Mertes, IF Scheller, VA Yépez, MH Çelik, Y Liang, LS Kremer, M Gusic, ... Nature communications 12 (1), 529	2021
Transcriptome variation in human tissues revealed by long-read sequencing DA Glinos, G Garborcauskas, P Hoffman, N Ehsan, L Jiang, A Gokden, ... Nature 608 (7922), 353-359	2022
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome S Marwaha, JW Knowles, EA Ashley Genome medicine 14 (1), 1-22	2022
The diagnosis of inborn errors of metabolism by an integrative “multi‐omics” approach: A perspective encompassing genomics, transcriptomics, and proteomics SL Stenton, LS Kremer, R Kopajtich, C Ludwig, H Prokisch Journal of inherited metabolic disease 43 (1), 25-35	2020
Clinical implementation of RNA sequencing for Mendelian disease diagnostics VA Yépez, M Gusic, R Kopajtich, C Mertes, NH Smith, CL Alston, R Ban, ... Genome medicine 14 (1), 38	2022
Detection of aberrant gene expression events in RNA sequencing data VA Yépez, C Mertes, MF Müller, D Klaproth-Andrade, L Wachutka, ... Nature Protocols 16 (2), 1276-1296	2021
Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics S Maddirevula, H Kuwahara, N Ewida, HE Shamseldin, N Patel, ... Genome biology 21, 1-21	2020
Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq JK Aicher, P Jewell, J Vaquero-Garcia, Y Barash, EJ Bhoj Genetics in Medicine 22 (7), 1181-1190	2020
LAMA2-related dystrophies: clinical phenotypes, disease biomarkers, and clinical trial readiness A Sarkozy, AR Foley, AA Zambon, CG Bönnemann, F Muntoni Frontiers in Molecular Neuroscience 13, 123	2020
The dimensions of primary mitochondrial disorders LD Schlieben, H Prokisch Frontiers in Cell and Developmental Biology 8, 600079	2020
Splicing profile by capture RNA-seq identifies pathogenic germline variants in tumor suppressor genes T Landrith, B Li, AA Cass, BR Conner, H LaDuca, DB McKenna, ... NPJ precision oncology 4 (1), 4	2020
Neurogenetic fetal akinesia and arthrogryposis: genetics, expanding genotype-phenotypes and functional genomics G Ravenscroft, JS Clayton, F Faiz, P Sivadorai, D Milnes, R Cincotta, ... Journal of medical genetics 58 (9), 609-618	2021
Molecular and cellular basis of genetically inherited skeletal muscle disorders JJ Dowling, CC Weihl, MJ Spencer Nature Reviews Molecular Cell Biology 22 (11), 713-732	2021

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