ScienceDirect Publication: Genetics in Medicine Open ScienceDirect RSS
- “Evidence of Variations in Genetic Prevalence for Loss of Function PKP2 variants between European and African Ancestry Individuals”
en abril 29, 2026 a las 3:41 pmPublication date: Available online 3 April 2026Source: Genetics in Medicine OpenAuthor(s): Alexandra Winters, Renae Judy, Choudhary Anwar A. Chahal, Ghaith Sharaf Dabbagh, Ravi A. Shah, Scott Damrauer, Melissa A. Kelly, Cynthia A. James, Crystal Tichnell, Brittney Murray, Diane Smelser, H. Shanker Rao, David J. Carey, Christopher Haggerty, Eric Carruth
- 12-month outcomes of elexacaftor/tezacaftor/ivacaftor (ELX/TEZ/IVA) in rare CFTR missense varianten abril 29, 2026 a las 3:41 pm
Publication date: Available online 3 April 2026Source: Genetics in Medicine OpenAuthor(s): Sona VEKARIA, Hind AL-ABBASI, Siobhain MULRENNAN
- Rapid Functional RNA Analysis via Amniocyte Transdifferentiation Resolves Prenatal Variant Ambiguity in Fetal Akinesia Syndromeen abril 29, 2026 a las 3:41 pm
Publication date: Available online 23 March 2026Source: Genetics in Medicine OpenAuthor(s): Yiming Qi, Jiahui Sun, Wei He, Jing Wu, Aihua Yin
- Health Actions Following Direct-to-Consumer Genetic Testing for Medically Actionable Conditionsen abril 29, 2026 a las 3:41 pm
Publication date: Available online 16 February 2026Source: Genetics in Medicine OpenAuthor(s): Amy C. Sturm, Stacey Detweiler, Jessica Bielenberg, Sungmin Park, Eloycsia Ukandu, Hannah Llorin, Sarah L. Elson, Matthew H. McIntyre, Noura S. Abul-Husn
- Rates of Unbalanced Chromosome Rearrangements Associated with Pericentric and Paracentric Inversions: Analysis of Molecular Chromosome Results in Embryo Samplesen abril 29, 2026 a las 3:41 pm
Publication date: Available online 4 February 2026Source: Genetics in Medicine OpenAuthor(s): Katrina Merrion, Jessica Adsit, Katherine L. Howard, Anjali D. Zimmer, Jeffrey T. Meltzer, Youbao Sha