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Shobhana Bommireddipalli

Showing results (1-10 of 7) with videos related to

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European Journal of Medical Genetics|July 6, 2020
Two novel B9D1 variants causing Joubert syndrome: Utility of mRNA and splicing studiesDisha Katiyar, Neil Anderson, Shobhana Bommireddipalli, et al.
Nature Genetics|February 6, 2023
SpliceVault predicts the precise nature of variant-associated mis-splicingRuebena Dawes, Adam M Bournazos, Samantha J Bryen, et al.
Clinical Genetics|February 17, 2023
Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disordersSamantha J Bryen, Katharine Zhang, Gregory Dziaduch, et al.
International Journal of Molecular Sciences|February 25, 2023
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head TraumaNicole J Van Bergen, Karen Gunanayagam, Adam M Bournazos, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 29, 2022
Clinical impact of whole-genome sequencing in patients with early-onset dementiaAamira J Huq, Bryony Thompson, Mark F Bennett, et al.
Nature Genetics|March 1, 2024
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathyAna Töpf, Dan Cox, Irina T Zaharieva, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsAdam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, et al.
Pageof 1

Showing results (1-10 of 7) with videos related to

Sort By:
Pageof 1
European Journal of Medical Genetics|July 6, 2020
Two novel B9D1 variants causing Joubert syndrome: Utility of mRNA and splicing studiesDisha Katiyar, Neil Anderson, Shobhana Bommireddipalli, et al.
Nature Genetics|February 6, 2023
SpliceVault predicts the precise nature of variant-associated mis-splicingRuebena Dawes, Adam M Bournazos, Samantha J Bryen, et al.
Clinical Genetics|February 17, 2023
Compound heterozygous splicing variants expand the genotypic spectrum of EMC1-related disordersSamantha J Bryen, Katharine Zhang, Gregory Dziaduch, et al.
International Journal of Molecular Sciences|February 25, 2023
Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head TraumaNicole J Van Bergen, Karen Gunanayagam, Adam M Bournazos, et al.
Journal of Neurology, Neurosurgery, and Psychiatry|July 29, 2022
Clinical impact of whole-genome sequencing in patients with early-onset dementiaAamira J Huq, Bryony Thompson, Mark F Bennett, et al.
Nature Genetics|March 1, 2024
Digenic inheritance involving a muscle-specific protein kinase and the giant titin protein causes a skeletal muscle myopathyAna Töpf, Dan Cox, Irina T Zaharieva, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|December 15, 2021
Standardized practices for RNA diagnostics using clinically accessible specimens reclassifies 75% of putative splicing variantsAdam M Bournazos, Lisa G Riley, Shobhana Bommireddipalli, et al.
Pageof 1