Our recent study found that phenotype-based patient selection is effective at identifying critically ill neonates with a high likelihood of receiving a molecular diagnosis via rapid-turnaround exome sequencing, leading to faster and more accurate diagnoses, reducing unnecessary testing and procedures, and informing medical care.
Read MoreToday marks the publication of our manuscript, “Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease,” in the New England Journal of Medicine on October 9, 2019. This article describes an example of truly individualized genomic medicine: the development of a customized oligonucleotide treatment for a young girl with a rare, progressive, neurodegenerative disease
Read MoreThe data in our latest publication in Nature Genetics refine estimates of the contribution of recessive mutations to ASD and suggest new paths for illuminating previously unknown biological pathways responsible for this condition.
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