Associated Papers
The first clinical validation of whole-genome screening on standard trophectoderm biopsies of preimplantation embryos.
Xia Y et al.
F&s Reports, 2024
Lack of genotype-phenotype correlations and outcome in MCAD deficiency diagnosed by newborn screening in New York State.
Arnold GL et al.
Molecular Genetics and Metabolism, 2010
Interstitial deletion of 1p22.2p31.1 and medium-chain acyl-CoA dehydrogenase deficiency in a patient with global developmental delay.
Maegawa GH et al.
American Journal of Medical Genetics. Part A, 2008
Novel mutations causing medium chain acyl-CoA dehydrogenase deficiency: under-representation of the common c.985 A > G mutation in the New York state population.
Nichols MJ et al.
American Journal of Medical Genetics. Part A, 2008
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