Publications by authors named "Caliebe Almuth"

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DNA methylation analysis of NOTCH1 variants reveals the first episignature for non-syndromic congenital heart defects.
Gregor Dombrowsky, Liselot van der Laan, Ananília Silva, Jeroen Breckpot, Enrique Audain, Almuth Caliebe

Genome Med· January 2026

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Comprehensive androgen-dependent transcriptome analysis in human genital tissue.
Radhika Sivaprasad, Kristian Händler, Almuth Caliebe, Malte Spielmann, Paul-Martin Holterhus

BMC Genomics· November 2025

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Evaluating genome sequencing strategies: trio, singleton, and standard testing in rare disease diagnosis.
Daniel Kaschta, Christina Post, Franziska Gaass, Milad Al-Tawil, Vincent Arriens, Almuth Caliebe

Genome Med· September 2025

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Dominant variants in major spliceosome U4 and U5 small nuclear RNA genes cause neurodevelopmental disorders through splicing disruption.
Caroline Nava, Benjamin Cogne, Amandine Santini, Elsa Leitão, François Lecoquierre, Almuth Caliebe

Nat Genet· June 2025

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Williams-Beuren Syndrome and Epilepsy: A Retrospective Analysis of 589 Patients.
Johanna Pohl, Harry Nuss, Almuth Caliebe, Angela Gosch, Elke Reutershahn

J Child Neurol· May 2025

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LINE1-mediated epigenetic repression of androgen receptor transcription causes androgen insensitivity syndrome.
Jelena Pozojevic, Radhika Sivaprasad, Joshua Laß, Franziska Haarich, Joanne Trinh, Almuth Caliebe

Sci Rep· July 2024

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Annular pancreas in two sisters: The story goes on.
Philipp Elischer, Almuth Caliebe, Inga Nagel, Robert Bergholz, Martin Schrappe

Am J Med Genet A· February 2024

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Formin-mediated nuclear actin at androgen receptors promotes transcription.
Julian Knerr, Ralf Werner, Carsten Schwan, Hong Wang, Peter Gebhardt, Almuth Caliebe

Nature· May 2023

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Aberrant phase separation and nucleolar dysfunction in rare genetic diseases.
Martin A Mensah, Henri Niskanen, Alexandre P Magalhaes, Shaon Basu, Martin Kircher, Almuth Caliebe

Nature· February 2023

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Case Report: - and Mutations in an Aggressive Case of Relapsing Uveal Ring Melanoma.
Michelle Prasuhn, Josephine Christin Freitag, Sabine Lüken, Vinodh Kakkassery, Hartmut Merz, Almuth Caliebe

Front Oncol· May 2022

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Aggressive B-cell lymphoma cases with 11q aberration patterns indicate a spectrum beyond Burkitt-like lymphoma.
Niklas Gebauer, Hanno M Witte, Hartmut Merz, Ilske Oschlies, Wolfram Klapper, Almuth Caliebe

Blood Adv· December 2021

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Correction: Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Almuth Caliebe

PLoS Genet· September 2021

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Genome sequencing in families with congenital limb malformations.
Jonas Elsner, Martin A Mensah, Manuel Holtgrewe, Jakob Hertzberg, Stefania Bigoni, Almuth Caliebe

Hum Genet· August 2021

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Integrative analysis of genomic variants reveals new associations of candidate haploinsufficient genes with congenital heart disease.
Enrique Audain, Anna Wilsdon, Jeroen Breckpot, Jose M G Izarzugaza, Tomas W Fitzgerald, Almuth Caliebe

PLoS Genet· July 2021

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Telangiectasia-ectodermal dysplasia-brachydactyly-cardiac anomaly syndrome is caused by de novo mutations in .
Svenja Alter, Andreas David Zimmer, Misun Park, Jianli Gong, Almuth Caliebe

J Med Genet· June 2021

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A Giant Mammary Hamartoma in a Young Breast Cancer Patient.
Anna-Lena Rumpf, Micaela Mathiak, Fritz K Schäfer, Almuth Caliebe, Andre Farrokh

Breast Care (Basel)· February 2021

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Mucopolysaccharidosis type I due to maternal uniparental disomy of chromosome 4 with partial isodisomy of 4p16.3p15.2.
Kloth Katja, Vater Inga, Lindschau Ramona, Caliebe Almuth, Muschol Nicole Maria

Mol Genet Metab Rep· December 2020

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A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder.
Miles D Thompson, Alexej A Knaus, Bruce A Barshop, Almuth Caliebe, Hiltrud Muhle

Eur J Med Genet· April 2020

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Association of Genomic Domains in and with Prostate Cancer Risk and Aggressiveness.
Vivek L Patel, Evan L Busch, Tara M Friebel, Angel Cronin, Goska Leslie, Almuth Caliebe

Cancer Res· February 2020

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CTCF variants in 39 individuals with a variable neurodevelopmental disorder broaden the mutational and clinical spectrum.
Enrico D H Konrad, Niels Nardini, Almuth Caliebe, Inga Nagel, Dana Young

Genet Med· December 2019

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The :p.Arg658* truncating variant is associated with risk of triple-negative breast cancer.
Gisella Figlioli, Massimo Bogliolo, Irene Catucci, Laura Caleca, Sandra Viz Lasheras, Almuth Caliebe

NPJ Breast Cancer· November 2019

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Reduced Androgen Receptor Expression in Genital Skin Fibroblasts From Patients With 45,X/46,XY Mosaicism.
Nadine C Hornig, Jeta Demiri, Pascal Rodens, Eva Maria Murga Penas, Almuth Caliebe

J Clin Endocrinol Metab· October 2019

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Large scale multifactorial likelihood quantitative analysis of BRCA1 and BRCA2 variants: An ENIGMA resource to support clinical variant classification.
Michael T Parsons, Emma Tudini, Hongyan Li, Eric Hahnen, Barbara Wappenschmidt, Almuth Caliebe

Hum Mutat· September 2019

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DNA methylation profiling allows for characterization of atrial and ventricular cardiac tissues and hiPSC-CMs.
Kirstin Hoff, Marta Lemme, Anne-Karin Kahlert, Kerstin Runde, Enrique Audain, Almuth Caliebe

Clin Epigenetics· June 2019

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A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.
Elisa De Franco, Rachel A Watson, Wolfgang J Weninger, Chi C Wong, Sarah E Flanagan, Almuth Caliebe

Am J Hum Genet· May 2019

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