Harald M. Surowy

Essen, NW, Germany

Last Updated: 09/26/2026

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Found 56 publications

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.

Journal: Nature genetics

Published: October 02, 2024

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity.

Journal: American journal of human genetics

Published: November 09, 2023

Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

Delineation of the adult phenotype of Coffin-Siris syndrome in 35 individuals.

Journal: Human genetics

Published: August 28, 2023

Gene expression profiling in porocarcinoma indicates heterogeneous tumor development and substantiates poromas as precursor lesions.

Gene expression profiling in porocarcinoma indicates heterogeneous tumor development and substantiates poromas as precursor lesions.

Journal: Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

Published: May 15, 2023

FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family.

FGF9-Associated Multiple Synostoses Syndrome Type 3 in a Multigenerational Family.

Journal: Genes

Published: February 03, 2023

Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain.

Expanding the spectrum of EEF1D neurodevelopmental disorders: Biallelic variants in the guanine exchange domain.

Journal: Clinical genetics

Published: October 05, 2022

Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study.

Physical activity, sedentary time and breast cancer risk: a Mendelian randomisation study.

Journal: British journal of sports medicine

Published: June 29, 2022

Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry.

Aggregation tests identify new gene associations with breast cancer in populations with diverse ancestry.

Journal: Genome medicine

Published: May 05, 2022

Noncancer-related Secondary Findings in a Cohort of 231 Children With Cancer and Their Parents.

Noncancer-related Secondary Findings in a Cohort of 231 Children With Cancer and Their Parents.

Journal: Journal of pediatric hematology/oncology

Published: November 11, 2021

Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.

Correction to: The recurrent missense mutation p.(Arg367Trp) in YARS1 causes a distinct neurodevelopmental phenotype.

Journal: Journal of molecular medicine (Berlin, Germany)

Published: October 18, 2021

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Breast cancer risks associated with missense variants in breast cancer susceptibility genes.

Journal: Genome medicine

Published: August 20, 2021

High tumour mutational burden and EGFR/MAPK pathway activation are therapeutic targets in metastatic porocarcinoma.

High tumour mutational burden and EGFR/MAPK pathway activation are therapeutic targets in metastatic porocarcinoma.

Journal: The British journal of dermatology

Published: June 26, 2021

Showing 1-12 of 56

Last Updated: 09/26/2026