Author

Marta Biderman Waberski

Observed names: Marta Biderman, Waberski, Marta Biderman

Observed institutions: Inova Health System, National Institutes of Health, Virginia Commonwealth University, Inova Fairfax Hospital, National Human Genome Research Institute, Inova Children's Hospital

OpenAlex ID: A5023646709

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

2016 · Jessica Duis, Shannon Dean, et al. · Annals of Neurology · 64

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

2018 · Marta Biderman Waberski, Marjorie Lindhurst, et al. · Genetics in Medicine · 33

A recurrent, de novo pathogenic variant in ARPC4 disrupts actin filament formation and causes microcephaly and speech delay

2021 · Dianne Laboy Cintron, Alison M. Muir, et al. · Human Genetics and Genomics Advances · 11

RSRC1 loss-of-function variants cause mild to moderate autosomal recessive intellectual disability

2020 · Marcello Scala, Majid Mojarrad, et al. · Brain · 11

Heterozygous UBR5 variants result in a neurodevelopmental syndrome with developmental delay, autism, and intellectual disability

2024 · Pascale Sabeh, Samantha A. Dumas, et al. · The American Journal of Human Genetics · 10

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia

2024 · Scott Barish, Sheng-Jia Lin, et al. · The American Journal of Human Genetics · 5

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

2022 · Diederik De Graef, Jehan Mousa, et al. · Therapeutic Advances in Rare Disease · 4

Sudden Cardiac Arrest and Takotsubo-Like Cardiomyopathy as the Initial Presentation of Primary Carnitine Deficiency

2026 · Nidhi Talasani, Robert Przybylski, et al. · JACC Case Reports

P050: Late diagnosis of attenuated MPS I in a 35-year-old adult

2026 · Marta Biderman Waberski, Akos Berthold · Genetics in Medicine Open

P495: Hunter syndrome and hemophilia A: A case of two X-linked syndromes occurring in one individual

2025 · Anjana Bhami Shenoy, Marta Biderman Waberski · Genetics in Medicine Open

Works count: 11

Citation count: 138

H-index: 5

I10-index: 5