Microdeletions, Rearrangements, and Cancer Susceptibility
Multiallelic Positions in the Human Genome: Challenges for Genetic Analyses
dbNSFP v3.0: A One-Stop Database of Functional Predictions and Annotations for Human Nonsynonymous and Splice-Site SNVs
Identification and Characterization of a Novel Constitutional PIK3CA Mutation in a Child Lacking the Typical Segmental Overgrowth of “ PIK3CA -Related Overgrowth Spectrum”
ADIPOR1 Is Mutated in Syndromic Retinitis Pigmentosa
The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes
MCM3AP and POMP Mutations Cause a DNA-Repair and DNA-Damage-Signaling Defect in an Immunodeficient Child
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy
Enhanced SRSF5 Protein Expression Reinforces Lamin A mRNA Production in HeLa Cells and Fibroblasts of Progeria Patients
Genetic Variants in MicroRNAs and Their Binding Sites Are Associated with the Risk of Parkinson Disease
Weaver Syndrome-Associated EZH2 Protein Variants Show Impaired Histone Methyltransferase Function In Vitro
MESP1 Mutations in Patients with Congenital Heart Defects
Long-Read Single Molecule Real-Time Full Gene Sequencing of Cytochrome P450-2D6
Does IARS2 Deficiency Cause an Intrinsic Disorder of Bone Development (Skeletal Dysplasia) or Are the Reported Skeletal Changes Secondary to Growth Hormone Deficiency and Neuromuscular Involvement?