Marie R Mooney

4PUBLICATIONS
32CO-AUTHORS
Neurology and neuromuscular diseasesEpigenetics (incl. genome methylation and epigenomics)Gene expression (incl. microarray and other genome-wide approaches)Developmental genetics (incl. sex determination)
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Publications (4)

|Jul 25, 2020
Mutations in FAM50A suggest that Armfield XLID syndrome is a spliceosomopathy.

Yu-Ri Lee, Kamal Khan, Kim Armfield-Uhas

|May 01, 2019
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.

Kamal Khan, Michael Zech, Angela T Morgan

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