Jet van der Spek

Disease characteristics of MCT8 deficiency: an international, retrospective, multicentre cohort study

Stefan Groeneweg, Ferdy S. van Geest, Ayhan Abacı et al. · The Lancet Diabetes & Endocrinology · 2020 · 107 citations

Disease Characteristics, Disease Mechanism, Genetic Disorder +10

PhenoScore quantifies phenotypic variation for rare genetic diseases by combining facial analysis with other clinical features using a machine-learning framework

Alexander J.M. Dingemans, Max Hinne, Kim M. G. Truijen et al. · Nature Genetics · 2023 · 67 citations · Full text

Phenotypic Variation, Engineering, Machine-learning Framework +12

Hematopoietic stem cell transplantation outcomes for 11 patients with dedicator of cytokinesis 8 deficiency

Waleed Al–Herz, Julia Chu, Jet van der Spek et al. · Journal of Allergy and Clinical Immunology · 2016 · 56 citations · Full text

Cell Therapy, Transplantation, Autoimmune Disease +11

Growth of human foreskin fibroblasts in a serum‐free, defined medium without platelet‐derived growth factor

Robert S. Weinstein, G A Hoover, Joseph M. Majure et al. · Journal of Cellular Physiology · 1982 · 37 citations

Outcomes of hematopoietic stem cell gene therapy for Wiskott-Aldrich syndrome

Roxane Labrosse, Julia Chu, Myriam Armant et al. · Blood · 2023 · 37 citations · Full text