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Alison M. Muir

University of Washington

24

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383

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Rare variants in KDR, encoding VEGF Receptor 2, are associated with tetralogy of Fallot.

2021 Genetics in Medicine
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A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes a neurodevelopmental disorder with microcephaly and speech delay

2021
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Variants in GNAI1 cause a syndrome associated with variable features including developmental delay, seizures, and hypotonia.

2021 Genetics in Medicine
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Pathogenic MAST3 Variants in the STK Domain Are Associated with Epilepsy

2021 Annals of Neurology
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Pathogenic Variants in CEP85L Cause Sporadic and Familial Posterior Predominant Lissencephaly

2020 Neuron
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NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns.

2020 Genetics in Medicine
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Bi-allelic Loss-of-Function Variants in NUP188 Cause a Recognizable Syndrome Characterized by Neurologic, Ocular, and Cardiac Abnormalities.

2020 American Journal of Human Genetics
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The epileptology of GNB5 encephalopathy

2019 Epilepsia
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Correction: TANGO2: expanding the clinical phenotype and spectrum of pathogenic variants (Genetics in Medicine, (2019), 21, 3, (601-607), 10.1038/s41436-018-0137-y)

2019 Genetics in Medicine
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Disruptive mutations in TANC2 define a neurodevelopmental syndrome associated with psychiatric disorders

2019 Nature Communications
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Citations (18)