Konstantinos Tsiakas

SLC39A8 Deficiency: A Disorder of Manganese Transport and Glycosylation

Julien H. Park, Max Hogrebe, Marianne Grüneberg et al. · The American Journal of Human Genetics · 2015 · 312 citations · Full text

Medicine, Genetics, Molecular Genetics +10

Cantú Syndrome Is Caused by Mutations in ABCC9

Bregje W.M. van Bon, Christian Gilissen, Dorothy K. Grange et al. · The American Journal of Human Genetics · 2012 · 167 citations · Full text

Life Sciences, Genetics, Molecular Genetics +7

Recessive mutations in <i>VPS13D</i> cause childhood onset movement disorders

Julie Gauthier, Inge A. Meijer, Davor Lessel et al. · Annals of Neurology · 2018 · 129 citations · Full text

Medicine, Genetics, Neurology +17

The Genomics of Arthrogryposis, a Complex Trait: Candidate Genes and Further Evidence for Oligogenic Inheritance

Davut Pehli̇van, Yavuz Bayram, Nilay Güneş et al. · The American Journal of Human Genetics · 2019 · 121 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

SLC39A8 deficiency: biochemical correction and major clinical improvement by manganese therapy

Julien H. Park, Max Hogrebe, Manfred Fobker et al. · Genetics in Medicine · 2017 · 84 citations · Full text

Life Sciences, Biochemistry, Glycobiology +12