Lukas Soellner

Koeln, NW, Germany

Last Updated: 09/26/2026

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Found 26 publications

A striking hand phenotype and guselkumab efficacy in NIPAL4-linked autosomal recessive congenital ichthyosis.

A striking hand phenotype and guselkumab efficacy in NIPAL4-linked autosomal recessive congenital ichthyosis.

Journal: Clinical and experimental dermatology

Published: September 02, 2024

Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers.

Search for cis-acting factors and maternal effect variants in Silver-Russell patients with ICR1 hypomethylation and their mothers.

Journal: European journal of human genetics : EJHG

Published: March 09, 2018

De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia.

De Novo Duplication of 11p15 Associated With Congenital Diaphragmatic Hernia.

Journal: Frontiers in pediatrics

Published: February 02, 2018

NLRP genes and their role in preeclampsia and multi-locus imprinting disorders.

NLRP genes and their role in preeclampsia and multi-locus imprinting disorders.

Journal: Journal of perinatal medicine

Published: December 12, 2016

Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring.

Maternal heterozygous NLRP7 variant results in recurrent reproductive failure and imprinting disturbances in the offspring.

Journal: European journal of human genetics : EJHG

Published: November 10, 2016

Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself.

Maternal uniparental disomy of chromosome 16 [upd(16)mat]: clinical features are rather caused by (hidden) trisomy 16 mosaicism than by upd(16)mat itself.

Journal: Clinical genetics

Published: October 07, 2016

Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management.

Targeted Next Generation Sequencing Approach in Patients Referred for Silver-Russell Syndrome Testing Increases the Mutation Detection Rate and Provides Decisive Information for Clinical Management.

Journal: The Journal of pediatrics

Published: October 07, 2016

Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances.

Phenotypic spectrum and extent of DNA methylation defects associated with multilocus imprinting disturbances.

Journal: Epigenomics

Published: June 21, 2016

Recent Advances in Imprinting Disorders.

Recent Advances in Imprinting Disorders.

Journal: Clinical genetics

Published: April 28, 2016

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

EMQN best practice guidelines for the molecular genetic testing and reporting of chromosome 11p15 imprinting disorders: Silver-Russell and Beckwith-Wiedemann syndrome.

Journal: European journal of human genetics : EJHG

Published: November 26, 2015

Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.

Examinations of maternal uniparental disomy and epimutations for chromosomes 6, 14, 16 and 20 in Silver-Russell syndrome-like phenotypes.

Journal: BMC medical genetics

Published: November 17, 2015

The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.

The Frequency of Methylation Abnormalities Among Estonian Patients Selected by Clinical Diagnostic Scoring Systems for Silver-Russell Syndrome and Beckwith-Wiedemann Syndrome.

Journal: Genetic testing and molecular biomarkers

Published: October 28, 2015

Showing 1-12 of 26

Last Updated: 09/26/2026