Pawel Gawlinski

17a Kasprzaka Street
Warsaw, MZ 01211, Poland

Last Updated: 09/26/2026

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Found 22 publications

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

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

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

A Zebrafish/Drosophila Dual System Model for Investigating Human Microcephaly.

A Zebrafish/Drosophila Dual System Model for Investigating Human Microcephaly.

Journal: Cells

Published: August 14, 2022

Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.

Results from Genetic Studies in Patients Affected with Craniosynostosis: Clinical and Molecular Aspects.

Journal: Frontiers in molecular biosciences

Published: January 29, 2022

De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.

De Novo ACTG1 Variant Expands the Phenotype and Genotype of Partial Deafness and Baraitser-Winter Syndrome.

Journal: International journal of molecular sciences

Published: December 01, 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

Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant.

Kosaki overgrowth syndrome due to a novel de novo PDGFRB variant.

Journal: Clinical genetics

Published: July 31, 2021

The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*).

The MED13L haploinsufficiency syndrome associated with de novo nonsense variant (P.GLN1981*).

Journal: Journal of mother and child

Published: April 30, 2021

Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene.

Clinical and molecular characterization of craniofrontonasal syndrome: new symptoms and novel pathogenic variants in the EFNB1 gene.

Journal: Orphanet journal of rare diseases

Published: April 25, 2021

Showing 1-12 of 22

Last Updated: 09/26/2026