Rebekah Jobling

Correction: The development and usability of ‘The Genetics Navigator’: a digital solution for adult and paediatric clinical genetics services

Saumeh Saeedi, Daena Hirjikaka, Marc Clausen, Stephanie Luca et autres

ca, us, gb (code pays fourni par la source)

P601: Evaluation of AI-assisted variant prioritization from genomic data for diagnosing patients with rare disease

Ted Higginbotham, Anna Szuto, Caitlin Chisholm, Meredith Gillespie et autres

ca, it, us (code pays fourni par la source)

Canadian Cardiovascular Society Clinical Practice Update on Cardiogenetic Testing

Melanie Care, Laura Arbour, Liam R. Brunham, Susan Christian et autres

ca (code pays fourni par la source)

Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies

Sébastien Küry, Janelle E. Stanton, Geeske M. van Woerden, Amélie Bosc-Rosati et autres

fr, ie, nl, de, ca, us, cn, me, au, ch, am, cz, il, gb, es (code pays fourni par la source)

Comparing the performance of exome and genome sequencing for rare disease diagnostics: A randomized implementation effectiveness trial

Robin Z. Hayeems, Wendy J. Ungar, Christian R. Marshall, Meredith Gillespie et autres

ca (code pays fourni par la source)

A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B

Esra Erkut, Cherith Somerville, M. Schwartz, Laura A. McDonald et autres

ca, us, nl, fr, gb, ch, pt (code pays fourni par la source)

Yield on Reinterpretation of Genetic Variants in Pediatric Cardiomyopathy

Takanori Suzuki, Robert Lesurf, Rajadurai Akilen, Xiaoqiao Xu et autres

ca, de, in, gb, au, es, us, jp, fr (code pays fourni par la source)

Clinical applications of and molecular insights from RNA sequencing in a rare disease cohort

Jamie C Stark, Neta Pipko, Yijing Liang, Anna Szuto et autres

ca (code pays fourni par la source)

The development and usability of ‘The Genetics Navigator’: a digital solution for adult and paediatric clinical genetics services

Saumeh Saeedi, Daena Hirijkaka, Marc Clausen, Stephanie Luca et autres

ca, us, gb (code pays fourni par la source)

KIDINS220 Variant Associated With Hypoplasia of the Corpus Callosum and Aqueduct Stenosis

Kimia Ghannad‐Zadeh, Patrick Shannon, Rebekah Jobling, Elka Miller et autres

ca (code pays fourni par la source)

The yield on re-interpretation of genetic variants in pediatric cardiomyopathy

Takanori Suzuki, Robert Lesurf, Rajadurai Akilen, Xiaoqiao Xu et autres

ca, de, in, au, es, jp, fr (code pays fourni par la source)

490P Reclassification of missense variant pathogenicity from a hereditary spastic paraplegia gene panel using ClinGen recommendations for in silico predictor scores

Jemethious Dube, Sae Hun Kim, Lynette Lau, Tina Higginbotham et autres