Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone is a research paper published in Annals of Clinical and Translational Neurology (2024). On theSindex it has a DataRank of 0. It has been cited 23 times.
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National Human Genome Research Institute
Grant: R01HG009141
National Human Genome Research Institute
Grant: T32HG010464
National Health and Medical Research Council
Grant: APP1048816
National Health and Medical Research Council
Grant: APP1056285
National Health and Medical Research Council
Grant: APP1074954
National Health and Medical Research Council
Grant: APP1080587
National Health and Medical Research Council
Grant: APP1090428
National Health and Medical Research Council
Grant: APP1106084
National Health and Medical Research Council
Grant: APP1136197
National Health and Medical Research Council
Grant: APP1194364
National Health and Medical Research Council
Grant: APP1195236
National Health and Medical Research Council
Grant: APP2002640
National Institutes of Health
Grant: 5UM1HG008900-04
Joint Center for Mendelian Genomics
National Health and Medical Research Council (NHMRC)
Grant: 1194364
Pathogenic repeat expansions in ataxia: advancing gene discovery and genetic diagnosis
National Health and Medical Research Council (NHMRC)
Grant: 1048816
Dysferlin coordinates membrane repair for skeletal and cardiac injury
National Health and Medical Research Council (NHMRC)
Grant: 1090428
Disease gene discovery and improved genetic diagnosis in neuromuscular disorders
National Health and Medical Research Council (NHMRC)
Grant: 2002640
Novel genomic approaches to identify the missing genetics underlying skeletal muscle disease.
National Health and Medical Research Council (NHMRC)
Grant: 1195236
Gene discovery and functional insights for neurological and retinal disorders
National Health and Medical Research Council (NHMRC)
Grant: 1080587
Identifying disease genes for neurogenetic disorders using next generation sequencing
National Health and Medical Research Council (NHMRC)
Grant: 1074954
To improve the diagnosis of limb-girdle muscular dystrophy using new genetic techniques of DNA sequencing known as next generation sequencing
National Institutes of Health
Grant: 2T32HG010464-06
Mass General Brigham Training Program in Precision and Genomic Medicine
National Institutes of Health
Grant: 5R01HG009141-02
A powerful web-based discovery platform for rare disease genetics
National Health and Medical Research Council (NHMRC)
Grant: 1136197
Translating innovations in Genomic Medicine for diagnosis and treatment for families with rare Neuromuscular disorders.
National Health and Medical Research Council (NHMRC)
Grant: 1056285
Advancing Diagnostics for the Congenital Muscular Dystrophies
NHGRI NIH HHS
Grant: UM1 HG008900
NEI NIH HHS
FWCI
9.71
Citation Percentile
1.0%
Influential Citations
1
Citation Trend
Fields of Study
MeSH Terms
Keywords
Sustainable Development Goals