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Human Mutation|August 22, 2019
Dutch genome diagnostic laboratories accelerated and improved variant interpretation and increased accuracy by sharing dataIvo F A C Fokkema, Kasper J van der Velde, Mariska K Slofstra, et al.
Human Mutation|July 13, 2019
Future directions for high-throughput splicing assays in precision medicineChristy L Rhine, Christopher Neil, David T Glidden, et al.
Human Mutation|December 26, 2003
Five novel mutations in the lysosomal sialidase gene (NEU1) in type II sialidosis patients and assessment of their impact on enzyme activity and intracellular targeting using adenovirus-mediated expressionSusan Pattison, Michael Pankarican, C Anthony Rupar, et al.
Human Mutation|December 26, 2003
DGGE-based whole-gene mutation scanning of the dystrophin gene in Duchenne and Becker muscular dystrophy patientsRobert M W Hofstra, Inge M Mulder, Rolf Vossen, et al.
Human Mutation|December 26, 2003
Nonclassical splicing mutations in the coding and noncoding regions of the ATM Gene: maximum entropy estimates of splice junction strengthsLaura Eng, Gabriela Coutinho, Shareef Nahas, et al.
Human Mutation|December 26, 2003
Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locusS M Sauter, W Engel, L M Neumann, et al.
Human Mutation|January 12, 2005
A novel constitutional mutation affecting splicing of retinoblastoma tumor suppressor gene intron 23 causes partial loss of pRB activityFrancisco Sánchez-Sánchez, Maja Kruetzfeldt, Carmen Nájera, et al.
Human Mutation|January 12, 2005
A common haplotype at the 5' end of the RET proto-oncogene, overrepresented in Hirschsprung patients, is associated with reduced gene expressionPaola Griseri, Tiziana Bachetti, Francesca Puppo, et al.
Human Mutation|February 16, 2005
Seventeen novel PLP1 mutations in patients with Pelizaeus-Merzbacher diseaseChristian A Hübner, Ulrike Orth, Arne Senning, et al.
Human Mutation|February 16, 2005
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseasesKoji M Nishiguchi, Michael A Sandberg, Nasim Gorji, et al.
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