Adele A. Mitchell
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View article: A whole genomic CRISPR-Cas9 screen identifies the amino acid transporter <i>SLC43A1</i> (LAT3) as a major determinant of oxaliplatin sensitivity in colorectal cancer cells
A whole genomic CRISPR-Cas9 screen identifies the amino acid transporter <i>SLC43A1</i> (LAT3) as a major determinant of oxaliplatin sensitivity in colorectal cancer cells Open
Colorectal cancer (CRC) is the second leading cause of cancer deaths in the United States, with a five-year survival rate of 65%. Oxaliplatin was the first platinum drug shown to improve CRC patient outcomes and is now a common adjuvant th…
View article: Landscapes of missense variant impact for human superoxide dismutase 1
Landscapes of missense variant impact for human superoxide dismutase 1 Open
Amyotrophic lateral sclerosis (ALS) is a progressive motor neuron disease for which important subtypes are caused by variation in the Superoxide Dismutase 1 gene SOD1 . Diagnosis based on SOD1 sequencing can not only be definitive but also…
View article: ALS Identified: two‐year findings from a sponsored ALS genetic testing program
ALS Identified: two‐year findings from a sponsored ALS genetic testing program Open
Objective To report initial results from the Amyotrophic Lateral Sclerosis (ALS) Identified genetic testing (GT) program on characteristics of individuals tested and frequency of reported disease‐causing variants. Methods ALS Identified us…
View article: Reciprocal Duplication of the Williams-Beuren Syndrome Deletion on Chromosome 7q11.23 Is Associated with Schizophrenia
Reciprocal Duplication of the Williams-Beuren Syndrome Deletion on Chromosome 7q11.23 Is Associated with Schizophrenia Open
Several copy number variants (CNVs) have been implicated as susceptibility factors for schizophrenia (SZ). Some of these same CNV also increase risk for autism spectrum disorders (ASD), suggesting an etiologic overlap between these conditi…
View article: Phenotype-specific information improves prediction of functional impact for noncoding variants
Phenotype-specific information improves prediction of functional impact for noncoding variants Open
Functional characterization of the noncoding genome is essential for the biological understanding of gene regulation and disease. Here, we introduce the computational framework PINES (Phenotype-Informed Noncoding Element Scoring) which pre…