Linda M. Randolph, MD

Associate Professor of Clinical Pediatrics

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Publications

A novel variant combination in COASY associates with severe prenatal onset PCH12: expanding the clinical and genetic spectrum. MedScience. 2026 Jun; 20(3):539-545.. View in PubMed
A novel homozygous missense variant in ARSK causes MPS X, a new subtype of mucopolysaccharidosis. Genes Dis. 2024 May; 11(3):101025.. View in PubMed
Infant with Asymmetric Crying Facies. Neoreviews. 2023 01 01; 24(1):47-50.. View in PubMed
Diagnosing newborns with suspected mitochondrial disorders: an economic evaluation comparing early exome sequencing to current typical care. Genet Med. 2021 10; 23(10):1854-1863.. View in PubMed
Long-term outcomes of patients with mucopolysaccharidosis VI treated with galsulfase enzyme replacement therapy since infancy. Mol Genet Metab. 2021 05; 133(1):100-108.. View in PubMed
Assessment of Facial Morphologic Features in Patients With Congenital Adrenal Hyperplasia Using Deep Learning. JAMA Netw Open. 2020 11 02; 3(11):e2022199.. View in PubMed
When moments matter: Finding answers with rapid exome sequencing. Mol Genet Genomic Med. 2020 02; 8(2):e1027.. View in PubMed
PEDIA: prioritization of exome data by image analysis. Genet Med. 2019 12; 21(12):2807-2814.. View in PubMed
Androgenetic chimerism as an etiology for Beckwith-Wiedemann syndrome: diagnosis and management. Genet Med. 2019 11; 21(11):2644-2649.. View in PubMed
Correction: Expanding the clinical phenotype of individuals with a 3-bp in-frame deletion of the NF1 gene (c.2970_2972del): an update of genotype-phenotype correlation. Genet Med. 2019 03; 21(3):764-765.. View in PubMed

Linda M. Randolph, MD

Publications

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