D. Dalloyaux

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

A. Hoischen, T. Meitinger, T. Strom, 2017, American Journal of Human Genetics.

Droplet digital polymerase chain reaction for rapid broad‐spectrum detection of bloodstream infections

H. Wertheim, H. Roelofs, C. Bleeker‐Rovers, 2019, Microbial biotechnology.

Mutations in ATP 6 V 1 E 1 or ATP 6 V 1 A Cause Autosomal-Recessive Cutis Laxa

A. Hoischen, T. Meitinger, T. Strom, 2016 .

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies.

Alexander Hoischen, Arnold Munnich, Ron A Wevers, 2018, American journal of human genetics.

Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa

A. Hoischen, H. Venselaar, R. Wevers, 2020, Journal of inherited metabolic disease.

Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa.

A. Hoischen, T. Meitinger, T. Strom, 2020, American journal of human genetics.