Marta B. Waberski

Marta B. Waberski

Medical Genetics | Pediatrics

8280 Willow Oaks Corporate Dr
300
Fairfax, VA 22031

Last Updated: 09/26/2026

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Found 4 publications

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.

Homozygous variants in WDR83OS lead to a neurodevelopmental disorder with hypercholanemia.

Journal: American journal of human genetics

Published: May 28, 2023

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

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

Journal: HGG advances

Published: July 30, 2021

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

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

Journal: Brain : a journal of neurology

Published: April 01, 2020

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

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

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: August 16, 2017

Showing 1-4 of 4

Last Updated: 09/26/2026