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Human Mutation|December 30, 2014
Can we afford to sequence every newborn baby's genome?Jacques S BeckmannHuman Mutation|December 30, 2014
Rare LRP6 variants identified in spina bifida patientsYunping Lei, Kristin Fathe, Danielle McCartney, et al.Human Mutation|November 12, 2014
VariSNP, a benchmark database for variations from dbSNPGerard C P Schaafsma, Mauno VihinenHuman Mutation|November 12, 2014
Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2)Arnaud V Vanlander, Björn Menten, Joél Smet, et al.Human Mutation|September 23, 2014
Identification and characterization of aberrant GAA pre-mRNA splicing in pompe disease using a generic approachAtze J Bergsma, Marian Kroos, Marianne Hoogeveen-Westerveld, et al.Human Mutation|October 22, 2014
Next generation sequencing identifies a novel rearrangement in the HBB cluster permitting to-the-base characterizationClaire Shooter, Helen Rooks, Swee Lay Thein, et al.Human Mutation|January 17, 2020
Mutations in FASTKD2 are associated with mitochondrial disease with multi-OXPHOS deficiencyXiujuan Wei, Miaomiao Du, Dongxiao Li, et al.Human Mutation|January 18, 2020
Single-molecule detection of cancer mutations using a novel PCR-LDR-qPCR assayCristian Ruiz, Jianmin Huang, Sarah F Giardina, et al.Human Mutation|September 9, 2020
Quantification of DNA methylation independent of sodium bisulfite conversion using methylation-sensitive restriction enzymes and digital PCRRogier J Nell, Debby van Steenderen, Nino V Menger, et al.Human Mutation|September 9, 2020
Comprehensive analysis and ACMG-based classification of CHEK2 variants in hereditary cancer patientsGardenia Vargas-Parra, Jesús Del Valle, Paula Rofes, et al.Pageof 583