Influence of Genetic Variation on Alternate MUTYH Transcript Isoforms
How Real Are Our Data? Copy Number Variation in Lymphoblastoid and Other Cell Lines
Regulatory Variations in the Era of Next-Generation Sequencing: Implications for Clinical Molecular Diagnostics
Rett Networked Database: An Integrated Clinical and Genetic Network of Rett Syndrome Databases
Frameshift Mutation in p53 Regulator RPL26 is Associated with Multiple Physical Abnormalities and a Specific Pre-Ribosomal RNA Processing Defect in Diamond–Blackfan Anemia
Deep Intronic APC Mutations Explain a Substantial Proportion of Patients with Familial or Early-Onset Adenomatous Polyposis
Insertion of an Sva Element, a Nonautonomous Retrotransposon, in PMS2 Intron 7 as a Novel Cause of Lynch Syndrome
Inherited Deleterious Variants in GALNT12 are Associated with CRC Susceptibility
Targeted Exome Sequencing in Clear Cell Renal Cell Carcinoma Tumors Suggests Aberrant Chromatin Regulation as A Crucial Step in ccRCC Development
A Novel 13 Base Pair Insertion in the Sonic Hedgehog ZRS Limb Enhancer (ZRS/ LMBR1 ) Causes Preaxial Polydactyly with Triphalangeal Thumb
MUTYH Gene Expression and Alternative Splicing in Controls and Polyposis Patients
Chromosomal Variation in Lymphoblastoid Cell Lines
Deep Sequencing of The LRRK2 Gene in 14,002 Individuals Reveals Evidence of Purifying Selection and Independent Origin of the p.Arg1628pro Mutation in Europe
More Single-Nucleotide Mutations Surround Small Insertions Than Small Deletions in Primates
Correlation Assessment among Clinical Phenotypes, Expression Analysis and Molecular Modeling of 14 Novel Variations in the Human Galactose-1-Phosphate Uridylyltransferase Gene
SAMHD1 is a Nucleic-Acid Binding Protein That is Mislocalized Due to Aicardi–GoutiÈRes Syndrome-Associated Mutations
11q13 Is a Susceptibility Locus for Hormone Receptor Positive Breast Cancer
Systematic Analysis and Functional Annotation of Variations in the Genome of an Indian Individual
Splice Site, Frameshift, and Chimeric GFAP Mutations in Alexander Disease