Almuth Caliebe

Kiel, SH, Germany

Last Updated: 09/26/2026

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Found 60 publications

Comprehensive androgen-dependent transcriptome analysis in human genital tissue.

Comprehensive androgen-dependent transcriptome analysis in human genital tissue.

Journal: BMC genomics
Published: July 09, 2025

DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects.

DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects.

Journal: Genome medicine
Published: May 09, 2025

Williams-Beuren Syndrome and Epilepsy: A Retrospective Analysis of 589 Patients.

Williams-Beuren Syndrome and Epilepsy: A Retrospective Analysis of 589 Patients.

Journal: Journal of child neurology
Published: January 22, 2025

Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.

Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.

Journal: Genome medicine
Published: December 20, 2024

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

LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome.

LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome.

Journal: Scientific reports
Published: March 11, 2024

Annular pancreas in two sisters: The story goes on.

Annular pancreas in two sisters: The story goes on.

Journal: American journal of medical genetics. Part A
Published: August 22, 2023

Formin-mediated nuclear actin at androgen receptors promotes transcription.

Formin-mediated nuclear actin at androgen receptors promotes transcription.

Journal: Nature
Published: May 17, 2022

Case Report: GNAQ- and SF3B1 Mutations in an Aggressive Case of Relapsing Uveal Ring Melanoma.

Case Report: GNAQ- and SF3B1 Mutations in an Aggressive Case of Relapsing Uveal Ring Melanoma.

Journal: Frontiers in oncology
Published: February 10, 2022

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.

Journal: Nature
Published: November 09, 2021

Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.

Journal: PLoS genetics
Published: September 21, 2021

Genome sequencing in families with congenital limb malformations.

Genome sequencing in families with congenital limb malformations.

Journal: Human genetics
Published: March 18, 2021
Showing 1-12 of 60

Last Updated: 09/26/2026