Associated Papers
Clinical utility of a genetic diagnosis in individuals with cerebral palsy and related motor disorders.
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Annals of Clinical and Translational Neurology, 2024
ECHS1 deficiency and its biochemical and clinical phenotype.
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American Journal of Medical Genetics. Part A, 2022
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
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35586607 (PubMed )
Supplement: mmc2.xlsx › Sheet1
Mendelian etiologies identified with whole exome sequencing in cerebral palsy.
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