Wojciech K. Wiszniewski

Medical Genetics | Pediatrics

3181 Sw Sam Jackson Park Rd
Portland, OR 97239

Last Updated: 09/26/2026

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Found 41 publications

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

Journal: medRxiv : the preprint server for health sciences

Published: December 19, 2025

Sex differences in aortopathy, arteriopathy, and mortality in vascular Ehlers-Danlos syndrome.

Sex differences in aortopathy, arteriopathy, and mortality in vascular Ehlers-Danlos syndrome.

Journal: Journal of vascular surgery

Published: November 17, 2025

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.

Journal: American journal of human genetics

Published: June 20, 2025

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.

Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.

Journal: Genome medicine

Published: February 06, 2024

Practice Patterns and Barriers to Vascular Genetic Testing Among Vascular Surgeons.

Practice Patterns and Barriers to Vascular Genetic Testing Among Vascular Surgeons.

Journal: Annals of vascular surgery

Published: November 05, 2023

Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans.

Biallelic variants in CELSR1 cause brain malformations, neurodevelopmental disorders and epilepsy in humans.

Journal: Nature communications

Published: October 25, 2023

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

Biallelic variants in CSMD1 are implicated in a neurodevelopmental disorder with intellectual disability and variable cortical malformations.

Journal: Cell death & disease

Published: July 14, 2023

Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism.

Congenital coenzyme Q5-linked pathology: causal genetic association, core phenotype, and molecular mechanism.

Journal: Journal of applied genetics

Published: April 29, 2023

Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon.

Population screening shows risk of inherited cancer and familial hypercholesterolemia in Oregon.

Journal: American journal of human genetics

Published: March 12, 2023

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.

Monoallelic variation in DHX9, the gene encoding the DExH-box helicase DHX9, underlies neurodevelopment disorders and Charcot-Marie-Tooth disease.

Journal: American journal of human genetics

Published: February 23, 2023

Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.

Pathogenic missense variants altering codon 336 of GARS1 lead to divergent dominant phenotypes.

Journal: Human mutation

Published: November 22, 2021

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.

Exome Sequencing Reveals Novel Variants and Expands the Genetic Landscape for Congenital Microcephaly.

Journal: Genes

Published: November 18, 2021

Showing 1-12 of 41

Last Updated: 09/26/2026