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Human Mutation|October 13, 2018
ClinGen Allele Registry links information about genetic variantsPiotr Pawliczek, Ronak Y Patel, Lillian R Ashmore, et al.Human Mutation|October 13, 2018
Specifications of the ACMG/AMP variant curation guidelines for the analysis of germline CDH1 sequence variantsKristy Lee, Kate Krempely, Maegan E Roberts, et al.Human Mutation|October 13, 2018
The ClinGen Epilepsy Gene Curation Expert Panel-Bridging the divide between clinical domain knowledge and formal gene curation criteriaIngo Helbig, Erin Rooney Riggs, Carrie-Anne Barry, et al.Human Mutation|October 13, 2018
ClinGen advancing genomic data-sharing standards as a GA4GH driver projectLena Dolman, Angela Page, Lawrence Babb, et al.Human Mutation|October 13, 2018
Updated recommendation for the benign stand-alone ACMG/AMP criterionRajarshi Ghosh, Steven M Harrison, Heidi L Rehm, et al.Human Mutation|October 13, 2018
On the verge of diagnosis: Detection, reporting, and investigation of de novo variants in novel genes identified by clinical sequencingIsabelle Thiffault, Maxime Cadieux-Dion, Emily Farrow, et al.Human Mutation|February 28, 2022
An expanded phenotype centric benchmark of variant prioritisation toolsDenise Anderson, Timo LassmannHuman Mutation|February 28, 2022
ModelMatcher: A scientist-centric online platform to facilitate collaborations between stakeholders of rare and undiagnosed disease researchJ Michael Harnish, Lucian Li, Sanja Rogic, et al.Human Mutation|June 14, 2018
Further delineation of Malan syndromeManuela Priolo, Denny Schanze, Katrin Tatton-Brown, et al.Human Mutation|May 5, 2018
Mutations and common variants in the human arginase 1 (ARG1) gene: Impact on patients, diagnostics, and protein structure considerationsCarmen Diez-Fernandez, Véronique Rüfenacht, Corinne Gemperle, et al.Pageof 577