Barbara Kloeckener‐Gruissem

机构：University of Zurich, ETH Zurich

发表论文 68 篇 · 总被引 2725 次 · h-index 26

代表论文

• Mutations in CDCA7 and HELLS cause immunodeficiency–centromeric instability–facial anomalies syndrome (2015 · Nature Communications · 被引 213)
• Dysfunctional LAT2 Amino Acid Transporter Is Associated With Cataract in Mouse and Humans (2019 · Frontiers in Physiology · 被引 48)
• Shedding light on myopia by studying complete congenital stationary night blindness (2023 · Progress in Retinal and Eye Research · 被引 37)
• Mutation in the Monocarboxylate Transporter 12 Gene Affects Guanidinoacetate Excretion but Does Not Cause Glucosuria (2015 · Journal of the American Society of Nephrology · 被引 25)
• Abnormal creatine transport of mutations in monocarboxylate transporter 12 (MCT12) found in patients with age-related cataract can be partially rescued by exogenous chaperone CD147 (2017 · Human Molecular Genetics · 被引 14)
• CHM mutation spectrum and disease: An update at the time of human therapeutic trials (2021 · Human Mutation · 被引 13)