Joan Steyermark

Biallelic Mutations in FUT8 Cause a Congenital Disorder of Glycosylation with Defective Fucosylation

Bobby G. Ng, Gege Xu, Nandini Chandy et al. · The American Journal of Human Genetics · 2018 · 72 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Genomics Integration Into Nephrology Practice

Filippo Pinto e Vairo, Carri A. Prochnow, Jennifer L. Kemppainen et al. · Kidney Medicine · 2021 · 30 citations · Full text

Life Sciences, Genetics, Nephrology +10

Mosaicism of the UDP-Galactose transporter SLC35A2 in a female causing a congenital disorder of glycosylation: a case report

Kristen Westenfield, Kyriakie Sarafoglou, Laura C. Speltz et al. · BMC Medical Genetics · 2018 · 15 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

Clinically Actionable Findings Derived From Predictive Genomic Testing Offered in a Medical Practice Setting

Jennifer L. Anderson, Teresa Kruisselbrink, Emily C. Lisi et al. · Mayo Clinic Proceedings · 2020 · 13 citations

Life Sciences, Genetics, Molecular Genetics +16