Jaclyn Haven

SLC35A2‐CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals

Bobby G. Ng, Paulina Sosicka, Satish Agadi et al. · Human Mutation · 2019 · 67 citations · Full text

Life Sciences, Genetics, Molecular Genetics +15

Pathogenic variants in <scp><i>SQOR</i></scp> encoding sulfide:quinone oxidoreductase are a potentially treatable cause of Leigh disease

Marisa W. Friederich, Abdallah F. Elias, Alice Küster et al. · Journal of Inherited Metabolic Disease · 2020 · 62 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Truncating de novo mutations in the Krüppel-type zinc-finger gene ZNF148 in patients with corpus callosum defects, developmental delay, short stature, and dysmorphisms

Servi J.C. Stevens, Anthonie J. van Essen, Conny M.A. van Ravenswaaij et al. · Genome Medicine · 2016 · 29 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

<i>N</i>‐glycome analysis detects dysglycosylation missed by conventional methods in <scp>SLC39A8</scp> deficiency

Julien H. Park, Robert G. Mealer, Abdallah F. Elias et al. · Journal of Inherited Metabolic Disease · 2020 · 19 citations · Full text

Life Sciences, Biochemistry, Molecular Genetics +15