Whole Exome Sequencing to Map the Genomic Evolution of Metastatic Prostate Cancer
A Disruptive Paradigm of Genetic Data Sharing and Analysis
Free the Data: One Laboratory's Approach to Knowledge-Based Genomic Variant Classification and Preparation for EMR Integration of Genomic Data
HAPLOFIND: A New Method for High-Throughput mtDNA Haplogroup Assignment
The Syndrome of Microcornea, Myopic Chorioretinal Atrophy, and Telecanthus (MMCAT) Is Caused by Mutations in ADAMTS18
The Sac1 Domain of SYNJ1 Identified Mutated in a Family with Early-Onset Progressive Parkinsonism with Generalized Seizures
Mutation in the SYNJ1 Gene Associated with Autosomal Recessive, Early-Onset Parkinsonism
Large Numbers of Genetic Variants Considered to be Pathogenic are Common in Asymptomatic Individuals
Rare Nonconservative LRP6 Mutations Are Associated with Metabolic Syndrome
Genetic Abnormalities in FOXP1 Are Associated with Congenital Heart Defects
Somatic Alterations Contributing to Metastasis of a Castration-Resistant Prostate Cancer
Functional Analysis of a De Novo ACTB Mutation in a Patient with Atypical Baraitser–Winter Syndrome
Chimeric Negative Regulation of p14ARF and TBX1 by a t(9;22) Translocation Associated with Melanoma, Deafness, and DNA Repair Deficiency
Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease
Novel CLCNKB Mutations Causing Bartter Syndrome Affect Channel Surface Expression
Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype of FKBP10 Mutations
Functional Interaction Between SNPs and Microsatellite in the Transcriptional Regulation of Insulin-Like Growth Factor 1
0.5 Mb Array as a First-Line Prenatal Cytogenetic Test in Cases without Ultrasound Abnormalities and Its Implementation in Clinical Practice
Rapid Multiplexed Genotyping of Simple Tandem Repeats using Capture and High-Throughput Sequencing
dbNSFP v2.0: A Database of Human Non-synonymous SNVs and Their Functional Predictions and Annotations