Marta Biderman Waberski

KIF5A mutations cause an infantile onset phenotype including severe myoclonus with evidence of mitochondrial dysfunction

T. Crawford, A. Hamosh, C. Stafstrom, 2016, Annals of neurology.

Urine cell-free DNA is a biomarker for nephroblastomatosis or Wilms Tumor in PIK3CA-related overgrowth spectrum (PROS)

L. Biesecker, K. Gripp, D. Adams, 2018, Genetics in Medicine.

Mannose treatment improves immune deficiency in mannose phosphate isomerase–congenital disorder of glycosylation: case report and review of literature

E. Morava, Jehan Mousa, Marta Biderman Waberski, 2022, Therapeutic advances in rare disease.