Where I see patients (4)
Selected research
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A novel splice site variant in DEGS1 leads to aberrant splicing and loss of DEGS1 enzyme activity, a VUS resolved.
medRxiv : the preprint server for health sciences
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Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Brain : a journal of neurology
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Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
NPJ genomic medicine
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Soothing the soul
Our music therapy program nurtures patients with bedside serenades, rap workshops and more.
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