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Michael C. Schneider

Urbana University

12

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336

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NRF1 association with AUTS2-Polycomb mediates specific gene activation in the brain.

2021 Molecular Cell
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Neuronal mechanisms of mutations in SCN8A causing epilepsy or intellectual disability

2019 Brain
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Refining the phenotype associated with GNB1 mutations: Clinical data on 18 newly identified patients and review of the literature.

2018 American Journal of Medical Genetics Part A
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PUF60 variants cause a syndrome of ID, short stature, microcephaly, coloboma, craniofacial, cardiac, renal and spinal features

2017 European Journal of Human Genetics
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De novo mutations in CSNK2A1 are associated with neurodevelopmental abnormalities and dysmorphic features

2016 Human Genetics
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Gain-of-Function Mutations in RARB Cause Intellectual Disability with Progressive Motor Impairment

2016 Human Mutation
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Deletion of and Novel Missense Mutation in POU3F4 in 2 Families Segregating X-Linked Nonsyndromic Deafness

2005 Archives of Otolaryngology-head & Neck Surgery
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Large Germline Deletions of Mitochondrial Complex II Subunits SDHB and SDHD in Hereditary Paraganglioma

2004 The Journal of Clinical Endocrinology and Metabolism
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Deoxyribonuclease I-like III Is an Inducible Macrophage Barrier to Liposomal Transfection

2002 Molecular Therapy
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Citations (33)