Christine C Bruels
5PUBLICATIONS
43CO-AUTHORS
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Publications (5)
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|Jul 16, 2025
Missense variants in TUBA4A cause myo-tubulinopathies.Mridul Johari, Chiara Folland, Yoshihiko Saito
|Jul 29, 2024
Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy.Johnnie Turner, Christine C Bruels, Audrey L Daugherty
|May 29, 2024
Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome.Geetanjali Rajamani, Seth A Stafki, Audrey L Daugherty
|Jun 23, 2022
Diagnostic capabilities of nanopore long-read sequencing in muscular dystrophy.Christine C Bruels, Hannah R Littel, Audrey L Daugherty
|Jan 29, 2019
Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites.Christine C Bruels, Chengcheng Li, Tonatiuh Mendoza
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Frequent Collaborators
5 joint publications
Peter B Kang
2 joint publications
Seth A Stafki
2 joint publications
Hannah R Littel
2 joint publications
Christina A Pacak
1 joint publications
Hemakumar M Reddy
1 joint publications
François Modave
1 joint publications
Isabelle Draper
1 joint publications
Basil T Darras
1 joint publications
Geetanjali Rajamani
1 joint publications
Audrey L Daugherty
