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Nissan V. Baratang

Université de Montréal

11

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174

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Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of 7 new subjects and review of the literature.

2020 Journal of Inherited Metabolic Disease
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Inherited glycophosphatidylinositol deficiency variant database and analysis of pathogenic variants

2019 Molecular Genetics & Genomic Medicine
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Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases

2019 American Journal of Human Genetics
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A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder

2019 European Journal of Medical Genetics
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Hot water epilepsy and SYN1 variants

2018 Epilepsia
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Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy

2018 American Journal of Human Genetics
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Novel mutations in fibronectin associated with metaphyseal fractures - Expanding the phenotype of patients with a subtype of spondylomethaphyseal dysplasia with "corner fractures"

2018 Journal of Bone and Mineral Research
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Mutations in Fibronectin Cause a Subtype of Spondylometaphyseal Dysplasia with ``Corner Fractures''

2017 American Journal of Human Genetics
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