Associated Papers
Whole genome sequencing from dried blood spots for newborn screening of Menkes disease and 36 other actionable inherited neurometabolic disorders.
Kaler SG et al.
Molecular Genetics and Metabolism, 2026
Neck masses due to internal jugular vein phlebectasia: Frequency in Menkes disease and literature review of 85 pediatric subjects.
Stevens KE et al.
American Journal of Medical Genetics. Part A, 2020
Characterization of ATP7A missense mutants suggests a correlation between intracellular trafficking and severity of Menkes disease.
Skjørringe T et al.
Scientific Reports, 2017
Neurodevelopment and brain growth in classic Menkes disease is influenced by age and symptomatology at initiation of copper treatment.
Kaler SG
Journal of Trace Elements in Medicine and Biology : Organ of the Society for Minerals and Trace Elements (gms), 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
A silent nucleotide substitution in the ATP7A gene in a child with Menkes disease.
Møller LB et al.
Molecular Genetics and Metabolism, 2013
Molecular correlates of epilepsy in early diagnosed and treated Menkes disease.
Kaler SG et al.
Journal of Inherited Metabolic Disease, 2010
Severe bilateral panlobular emphysema and pulmonary arterial hypoplasia: unusual manifestations of Menkes disease.
Grange DK et al.
American Journal of Medical Genetics. Part A, 2005
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