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Nancy Braverman

Johns Hopkins University
Montreal Children's Hospital
McGill University Health Centre

67

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2738

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A PEX1 terminal deletion retains partial PEX1 protein function resulting in an attenuated Zellweger spectrum phenotype

2021 Molecular Genetics and Metabolism
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A Retrospective Study of Hearing Loss in Patients Diagnosed with Peroxisome Biogenesis Disorders in the Zellweger Spectrum.

2021 Ear and Hearing
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Peroxisomal Disorders in Children

2021
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Molecular, biochemical and neuropathological characterization of novel PEX7 deletion variants in patients with classic (severe) rhizomelic chondrodysplasia punctata type 1

2021 Molecular Genetics and Metabolism
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The biochemical basis of mitochondrial dysfunction in Zellweger Spectrum Disorder.

2021 EMBO Reports
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Natural history and systematic review of ophthalmic findings in peroxisome biogenesis disorders-Zellweger spectrum

2021 Molecular Genetics and Metabolism
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Clinical, biochemical, and molecular characterization of mild (nonclassic) rhizomelic chondrodysplasia punctata.

2021 Journal of Inherited Metabolic Disease
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Evaluating the strength of evidence for genes implicated in peroxisomal disorders using the ClinGen clinical validity framework

2021 Molecular Genetics and Metabolism
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Clinical, neuroradiological, and molecular phenotyping of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations

2021 Molecular Genetics and Metabolism
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Figure 4. [Characteristic facial features of classic...].

2020
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