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Elise Valkanas

Broad Institute

21

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467

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Systematic evaluation of genome sequencing as a first-tier diagnostic test for prenatal and pediatric disorders

2020 bioRxiv
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Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness

2020 Genetics in Medicine
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A structural variation reference for medical and population genetics

2020 Nature
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P.175Detection and interpretation of variants in dystroglycanopathy-causing genes in a cohort of 1,566 patients with unexplained limb-girdle muscle weakness

2019 Neuromuscular Disorders
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Contribution of noncoding pathogenic variants to RPGRIP1 -mediated inherited retinal degeneration

2019 Genetics in Medicine
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Contribution of non-coding mutations to RPGRIP1-mediated inherited retinal degeneration.

2018 bioRxiv
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Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan

2018 Physiological Genomics
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matchbox: An open‐source tool for patient matching via the Matchmaker Exchange

2018 Human Mutation
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An international collaboration applying targeted whole exome sequencing to detect causative variants in 1001 patients affected by limb-girdle weakness of unknown origin

2018 Neuromuscular Disorders
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Structural and splicing RPGRIP1 mutations in inherited retinal degenerations

2018 Investigative Ophthalmology & Visual Science
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