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Sonal Mahida

Boston Children's Hospital

7

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Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings.

2021 Annals of clinical and translational neurology
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A pathogenic UFSP2 variant in an autosomal recessive form of pediatric neurodevelopmental anomalies and epilepsy.

2021 Genetics in Medicine
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Genetic diagnoses in epilepsy: The impact of dynamic exome analysis in a pediatric cohort

2020 Epilepsia
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Expansion of the clinical spectrum associated with AARS2 ‐related disorders

2019 American Journal of Medical Genetics Part A
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