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Publications by Marie T. McDonald

Mutations in NCAPG2 Cause a Severe Neurodevelopmental Syndrome That Expands the Phenotypic Spectrum of Condensinopathies

American Journal of Human Genetics

English

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Mutations in KCNK4 That Affect Gating Cause a Recognizable Neurodevelopmental Syndrome

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Mutations in TMEM260 Cause a Pediatric Neurodevelopmental, Cardiac, and Renal Syndrome

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Mutations in LNPK , Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome

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Barth Syndrome Mutations That Cause Tafazzin Complex Lability

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Mutations in KPTN Cause Macrocephaly, Neurodevelopmental Delay, and Seizures

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Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy

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PTPN11 Mutations in Noonan Syndrome: Molecular Spectrum, Genotype-Phenotype Correlation, and Phenotypic Heterogeneity

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Activating Mutations in PAK1, Encoding P21-Activated Kinase 1, Cause a Neurodevelopmental Disorder

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LRIG2 Mutations Cause Urofacial Syndrome

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