Publications
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Filters: Keyword is Infant and Author is Withers, Marjorie [Clear All Filters]
NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity. Hum Mol Genet. 2021 ;29(21):3516-3531.
. Recurrent De Novo and Biallelic Variation of ATAD3A, Encoding a Mitochondrial Membrane Protein, Results in Distinct Neurological Syndromes. Am J Hum Genet. 2016 ;99(4):831-845.
. Human CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system function. Cell. 2014 ;157(3):636-50.
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