Jonathan Schoof

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 · 57 citations · Full text

Genetics, Molecular Biology, Pathology +20

Androgenetic/Biparental Mosaicism in an Infant with Hepatic Mesenchymal Hamartoma and Placental Mesenchymal Dysplasia

Robyn C. Reed, Linda Beischel, Jonathan Schoof et al. · Pediatric and Developmental Pathology · 2008 · 54 citations

Cytogenetics, Genetics, Human Polymorphism +16

Overrepresentation of pregnancies conceived by artificial reproductive technology in prenatally identified fetuses with Beckwith-Wiedemann syndrome

John P. Johnson, Linda Beischel, Corbin Schwanke et al. · Journal of Assisted Reproduction and Genetics · 2018 · 25 citations · Full text

Beckwith-wiedemann Syndrome, Artificial Reproductive Technology, Infertility +11

The identification of a (CGG) 6 AGG insertion within the CGG repeat of the FMR1 gene in Asians

S.-H. Chen, Jonathan Schoof, Norman E. Buroker et al. · Human Genetics · 1997 · 18 citations

Allelic Variant, Fmr1 Gene, Genetic Disorder +10

<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 · 17 citations · Full text

Conventional Methods, Glycobiology, Molecular Biology +18