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Lisa M. Crowther

Boston Children's Hospital

11

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162

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The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study

2019 European Journal of Human Genetics
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New insights into human lysine degradation pathways with relevance to pyridoxine‐dependent epilepsy due to antiquitin deficiency

2019 Journal of Inherited Metabolic Disease
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Multiomics tools for the diagnosis and treatment of rare neurological disease

2018 Journal of Inherited Metabolic Disease
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Confirmation of mutations in PROSC as a novel cause of vitamin B6-dependent epilepsy

2017 Journal of Medical Genetics
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Confirmation of mutations in the PROSC gene as a novel cause of vitamin B6 dependent epilepsy

2017 European Journal of Paediatric Neurology
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Plasma metabolomics reveals a diagnostic metabolic fingerprint for mitochondrial aconitase (ACO2) deficiency

2017 PLOS ONE
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A Combined Metabolic–Genetic Approach to Early-Onset Epileptic Encephalopathies: Results from a Swiss Study Cohort

2016 Neuropediatrics
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The value of plasma vitamin B6 profiles in early onset epileptic encephalopathies

2016 Journal of Inherited Metabolic Disease
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Citations (16)